#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
MORN1	79906	hgsc.bcm.edu	37	1	2288951	2288951	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr1:2288951T>C	ENST00000378531.3	-	10	1129	c.956A>G	c.(955-957)gAc>gGc	p.D319G	MORN1_ENST00000378529.3_Missense_Mutation_p.D319G|MORN1_ENST00000606372.1_5'UTR	NM_024848.1	NP_079124.1	Q5T089	MORN1_HUMAN	MORN repeat containing 1	319										breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(1)|ovary(2)	9	all_cancers(77;0.000194)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.3e-15)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;2.21e-37)|OV - Ovarian serous cystadenocarcinoma(86;5.01e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00137)|BRCA - Breast invasive adenocarcinoma(365;0.00488)|STAD - Stomach adenocarcinoma(132;0.00665)|KIRC - Kidney renal clear cell carcinoma(229;0.0203)|Lung(427;0.212)		CAGGGGCACGTCGGCTTCTGC	0.647																																					p.D319G		Atlas-SNP	.											.	MORN1	38	.	0			c.A956G						.						48.0	53.0	51.0					1																	2288951		2203	4299	6502	SO:0001583	missense	79906	exon10			GGCACGTCGGCTT	AK024003	CCDS40.1, CCDS72688.1	1p36.33-p36.32	2008-02-05			ENSG00000116151	ENSG00000116151			25852	protein-coding gene	gene with protein product						12477932	Standard	XM_005244798		Approved	FLJ13941	uc001ajb.1	Q5T089	OTTHUMG00000001402	ENST00000378531.3:c.956A>G	chr1.hg19:g.2288951T>C	ENSP00000367792:p.Asp319Gly	253.0	0.0		174.0	38.0	NM_024848	A6NKZ6|Q8WW30|Q9H852	Missense_Mutation	SNP	ENST00000378531.3	hg19	CCDS40.1	.	.	.	.	.	.	.	.	.	.	T	11.14	1.550902	0.27739	.	.	ENSG00000116151	ENST00000378531;ENST00000378529	T;T	0.57907	0.68;0.37	3.2	3.2	0.36748	.	1.555720	0.04109	N	0.314273	T	0.55609	0.1931	M	0.61703	1.905	0.23581	N	0.997363	P;P	0.40180	0.705;0.483	B;B	0.41510	0.359;0.057	T	0.49351	-0.8949	10	0.56958	D	0.05	.	8.163	0.31209	0.0:0.0:0.0:1.0	.	319;319	Q5T089-2;Q5T089	.;MORN1_HUMAN	G	319	ENSP00000367792:D319G;ENSP00000367790:D319G	ENSP00000367790:D319G	D	-	2	0	MORN1	2278811	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	-0.043000	0.12043	1.698000	0.51180	0.460000	0.39030	GAC	.	.		0.647	MORN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000004055.1	NM_024848	
FAM213B	127281	hgsc.bcm.edu	37	1	2519820	2519820	+	Intron	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr1:2519820T>C	ENST00000378425.5	+	4	396				FAM213B_ENST00000378424.4_Silent_p.C152C|FAM213B_ENST00000537325.1_Intron|FAM213B_ENST00000484099.1_Intron|FAM213B_ENST00000444521.2_Silent_p.C122C|FAM213B_ENST00000419916.2_Intron			Q8TBF2	PGFS_HUMAN	family with sequence similarity 213, member B						arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|myelin sheath (GO:0043209)	oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|prostaglandin-F synthase activity (GO:0047017)										CGACCTGGTGTCTTCGCAGGT	0.637																																					p.C152C		Atlas-SNP	.											.	.	.	.	0			c.T456C						.						73.0	73.0	73.0					1																	2519820		2203	4300	6503	SO:0001627	intron_variant	127281	exon4			CTGGTGTCTTCGC	AK075273	CCDS44.1, CCDS44.2, CCDS55564.1, CCDS72690.1, CCDS72691.1	1p36.32	2011-12-08	2011-11-24	2011-11-24	ENSG00000157870	ENSG00000157870	1.11.1.20		28390	protein-coding gene	gene with protein product	"""prostamide/prostaglandin F synthase"""		"""chromosome 1 open reading frame 93"""	C1orf93		18006499	Standard	NM_152371		Approved	MGC26818	uc001ajv.2	Q8TBF2	OTTHUMG00000000847	ENST00000378425.5:c.321-9T>C	chr1.hg19:g.2519820T>C		115.0	0.0		79.0	4.0	NM_001195736	A8K793|B3KPY3|B4DQR9|B4E0S5|B7ZAC8|B9DI90|B9DI92|J3KQD0|Q8N2H0	Silent	SNP	ENST00000378425.5	hg19																																																																																				.	.		0.637	FAM213B-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_152371	
CCDC27	148870	hgsc.bcm.edu	37	1	3683876	3683876	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr1:3683876A>G	ENST00000294600.2	+	10	1694	c.1610A>G	c.(1609-1611)cAg>cGg	p.Q537R		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	537										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)		AGCCAGCTGCAGGAGCAGGTG	0.572																																					p.Q537R		Atlas-SNP	.											.	CCDC27	79	.	0			c.A1610G						.						57.0	55.0	56.0					1																	3683876		2203	4300	6503	SO:0001583	missense	148870	exon10			AGCTGCAGGAGCA		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.1610A>G	chr1.hg19:g.3683876A>G	ENSP00000294600:p.Gln537Arg	204.0	0.0		148.0	7.0	NM_152492	Q5TBV3|Q96M50	Missense_Mutation	SNP	ENST00000294600.2	hg19	CCDS50.1	.	.	.	.	.	.	.	.	.	.	A	16.71	3.197967	0.58126	.	.	ENSG00000162592	ENST00000294600	T	0.20069	2.1	5.24	5.24	0.73138	.	0.465836	0.19916	N	0.103198	T	0.24586	0.0596	L	0.27053	0.805	0.28090	N	0.931854	P	0.52692	0.955	P	0.53401	0.725	T	0.05053	-1.0909	10	0.49607	T	0.09	-27.3492	11.5015	0.50441	1.0:0.0:0.0:0.0	.	537	Q2M243	CCD27_HUMAN	R	537	ENSP00000294600:Q537R	ENSP00000294600:Q537R	Q	+	2	0	CCDC27	3673736	1.000000	0.71417	0.545000	0.28153	0.461000	0.32589	4.661000	0.61518	1.957000	0.56846	0.533000	0.62120	CAG	.	.		0.572	CCDC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009740.1	NM_152492	
C1orf174	339448	hgsc.bcm.edu	37	1	3807353	3807353	+	Missense_Mutation	SNP	G	G	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr1:3807353G>T	ENST00000361605.3	-	3	496	c.398C>A	c.(397-399)gCa>gAa	p.A133E	C1orf174_ENST00000486765.1_5'UTR	NM_207356.2	NP_997239.2	Q8IYL3	CA174_HUMAN	chromosome 1 open reading frame 174	133						nucleus (GO:0005634)				endometrium(1)|large_intestine(5)|lung(4)|prostate(1)	11	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_cancers(23;5.09e-25)|all_epithelial(116;9.35e-17)|all_lung(118;1.09e-06)|Lung NSC(185;0.000139)|all_neural(13;0.00287)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0219)|all_hematologic(16;0.027)|Colorectal(325;0.0276)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;1.55e-39)|OV - Ovarian serous cystadenocarcinoma(86;5.99e-23)|GBM - Glioblastoma multiforme(42;2.22e-17)|Colorectal(212;1.08e-05)|COAD - Colon adenocarcinoma(227;5.49e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000365)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.19)		TCTAGTCTTTGCTAAGCGAGA	0.582																																					p.A133E		Atlas-SNP	.											.	C1orf174	20	.	0			c.C398A						.						78.0	69.0	72.0					1																	3807353		2203	4300	6503	SO:0001583	missense	339448	exon3			GTCTTTGCTAAGC	BC035643	CCDS53.1	1p36.32	2012-07-25			ENSG00000198912	ENSG00000198912			27915	protein-coding gene	gene with protein product						12477932	Standard	NM_207356		Approved	RP13-531C17.2	uc001alf.3	Q8IYL3	OTTHUMG00000003739	ENST00000361605.3:c.398C>A	chr1.hg19:g.3807353G>T	ENSP00000355306:p.Ala133Glu	138.0	0.0		99.0	4.0	NM_207356	A8K0C8|A8MUG9|Q5SR20|Q6NX36	Missense_Mutation	SNP	ENST00000361605.3	hg19	CCDS53.1	.	.	.	.	.	.	.	.	.	.	G	16.17	3.048791	0.55110	.	.	ENSG00000198912	ENST00000361605	T	0.06608	3.28	5.56	1.36	0.22044	.	1.823430	0.02225	N	0.064345	T	0.15912	0.0383	L	0.53249	1.67	0.09310	N	1	D	0.63046	0.992	P	0.59948	0.866	T	0.13255	-1.0516	10	0.26408	T	0.33	0.4856	4.7974	0.13279	0.1639:0.0:0.5383:0.2977	.	133	Q8IYL3	CA174_HUMAN	E	133	ENSP00000355306:A133E	ENSP00000355306:A133E	A	-	2	0	C1orf174	3797213	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.346000	0.19997	-0.007000	0.14345	0.563000	0.77884	GCA	.	.		0.582	C1orf174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010539.1	NM_207356	
TMEM201	199953	hgsc.bcm.edu	37	1	9669927	9669927	+	Missense_Mutation	SNP	C	C	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr1:9669927C>T	ENST00000340381.6	+	8	1432	c.1423C>T	c.(1423-1425)Cca>Tca	p.P475S	TMEM201_ENST00000377376.4_Intron	NM_001130924.2	NP_001124396.2	Q5SNT2	TM201_HUMAN	transmembrane protein 201	475	Ser-rich.				fibroblast migration (GO:0010761)|nuclear migration (GO:0007097)	integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)				lung(3)|upper_aerodigestive_tract(1)	4	all_lung(157;0.222)	all_epithelial(116;2.09e-14)|Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.5e-08)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|STAD - Stomach adenocarcinoma(132;0.00345)|READ - Rectum adenocarcinoma(331;0.0419)		CGGTAGCCGCCCACCATCTCA	0.602																																					p.P475S		Atlas-SNP	.											.	TMEM201	63	.	0			c.C1423T						.						37.0	37.0	37.0					1																	9669927		692	1591	2283	SO:0001583	missense	199953	exon8			AGCCGCCCACCAT		CCDS30579.1, CCDS44055.1, CCDS44055.2	1p36.22	2009-11-06			ENSG00000188807	ENSG00000188807			33719	protein-coding gene	gene with protein product							Standard	NM_001130924		Approved	RP13-15M17.2, NET5	uc021ofy.1	Q5SNT2	OTTHUMG00000057457	ENST00000340381.6:c.1423C>T	chr1.hg19:g.9669927C>T	ENSP00000344503:p.Pro475Ser	133.0	0.0		80.0	4.0	NM_001130924	B9EH90|Q5SNT3	Missense_Mutation	SNP	ENST00000340381.6	hg19	CCDS44055.2	.	.	.	.	.	.	.	.	.	.	C	23.6	4.436826	0.83885	.	.	ENSG00000188807	ENST00000340381	.	.	.	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.60444	0.2269	L	0.36672	1.1	0.80722	D	1	.	.	.	.	.	.	T	0.54899	-0.8224	7	0.30854	T	0.27	-17.0285	17.7376	0.88399	0.0:1.0:0.0:0.0	.	.	.	.	S	475	.	ENSP00000344503:P475S	P	+	1	0	TMEM201	9592514	1.000000	0.71417	0.989000	0.46669	0.838000	0.47535	6.151000	0.71806	2.630000	0.89119	0.655000	0.94253	CCA	.	.		0.602	TMEM201-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127672.1	NM_001010866	
KIF1B	23095	hgsc.bcm.edu	37	1	10425293	10425293	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr1:10425293T>C	ENST00000377086.1	+	42	4704	c.4502T>C	c.(4501-4503)cTc>cCc	p.L1501P	KIF1B_ENST00000263934.6_Missense_Mutation_p.L1455P|KIF1B_ENST00000377081.1_Missense_Mutation_p.L1501P			O60333	KIF1B_HUMAN	kinesin family member 1B	1501					anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		AAGCTGGAGCTCCTACATGAG	0.557																																					p.L1455P		Atlas-SNP	.											.	KIF1B	242	.	0			c.T4364C						.						42.0	43.0	43.0					1																	10425293		2203	4300	6503	SO:0001583	missense	23095	exon40			TGGAGCTCCTACA	AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.4502T>C	chr1.hg19:g.10425293T>C	ENSP00000366290:p.Leu1501Pro	185.0	0.0		118.0	5.0	NM_015074	A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Missense_Mutation	SNP	ENST00000377086.1	hg19		.	.	.	.	.	.	.	.	.	.	T	14.58	2.578287	0.45902	.	.	ENSG00000054523	ENST00000355249;ENST00000263934;ENST00000377086;ENST00000377081	T;T;T	0.72942	-0.62;-0.7;-0.7	5.29	5.29	0.74685	.	0.072104	0.64402	D	0.000019	T	0.72078	0.3416	L	0.29908	0.895	0.80722	D	1	P;P;P;P;P;B	0.49862	0.863;0.8;0.863;0.929;0.641;0.118	B;B;P;P;B;B	0.59948	0.333;0.188;0.613;0.866;0.188;0.087	T	0.74460	-0.3658	10	0.62326	D	0.03	.	10.5023	0.44813	0.1446:0.0:0.0:0.8554	.	1487;1461;1501;1475;1501;1455	Q4R9M9;Q4R9M7;Q4VXC4;Q4R9M8;O60333;O60333-2	.;.;.;.;KIF1B_HUMAN;.	P	1501;1455;1501;1501	ENSP00000263934:L1455P;ENSP00000366290:L1501P;ENSP00000366284:L1501P	ENSP00000263934:L1455P	L	+	2	0	KIF1B	10347880	1.000000	0.71417	0.990000	0.47175	0.953000	0.61014	2.776000	0.47709	1.991000	0.58162	0.528000	0.53228	CTC	.	.		0.557	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1		
C1orf127	148345	hgsc.bcm.edu	37	1	11009710	11009710	+	Silent	SNP	G	G	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr1:11009710G>A	ENST00000377008.4	-	10	1206	c.760C>T	c.(760-762)Ctg>Ttg	p.L254L	C1orf127_ENST00000377004.4_Silent_p.L421L			Q8N9H9	CA127_HUMAN	chromosome 1 open reading frame 127	254	Pro-rich.									NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		GGCCGGTGCAGGAGGTCCCGA	0.622																																					p.L421L		Atlas-SNP	.											.	C1orf127	134	.	0			c.C1261T						.						42.0	36.0	38.0					1																	11009710		2199	4300	6499	SO:0001819	synonymous_variant	148345	exon11			GGTGCAGGAGGTC	AK094437	CCDS53267.1	1p36.22	2008-02-05			ENSG00000175262	ENSG00000175262			26730	protein-coding gene	gene with protein product						14702039	Standard	NM_001170754		Approved	FLJ37118	uc010oao.2	Q8N9H9	OTTHUMG00000002032	ENST00000377008.4:c.760C>T	chr1.hg19:g.11009710G>A		133.0	0.0		132.0	26.0	NM_001170754	A0AVG8|A6NKM7|Q5VXJ2	Silent	SNP	ENST00000377008.4	hg19																																																																																				.	.		0.622	C1orf127-202	KNOWN	basic	protein_coding	protein_coding		NM_173507	
MTHFR	4524	hgsc.bcm.edu	37	1	11854524	11854524	+	Missense_Mutation	SNP	G	G	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr1:11854524G>A	ENST00000376592.1	-	7	1366	c.1238C>T	c.(1237-1239)cCc>cTc	p.P413L	MTHFR_ENST00000376585.1_Missense_Mutation_p.P454L|MTHFR_ENST00000376583.3_Missense_Mutation_p.P454L|MTHFR_ENST00000376590.3_Missense_Mutation_p.P413L			P42898	MTHR_HUMAN	methylenetetrahydrofolate reductase (NAD(P)H)	413					blood circulation (GO:0008015)|cellular amino acid metabolic process (GO:0006520)|folic acid metabolic process (GO:0046655)|homocysteine metabolic process (GO:0050667)|methionine biosynthetic process (GO:0009086)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to vitamin B2 (GO:0033274)|S-adenosylmethionine metabolic process (GO:0046500)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|neuron projection (GO:0043005)	flavin adenine dinucleotide binding (GO:0050660)|methylenetetrahydrofolate reductase (NAD(P)H) activity (GO:0004489)|modified amino acid binding (GO:0072341)|NADP binding (GO:0050661)			NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Fluorouracil(DB00544)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Riboflavin(DB00140)|Tetrahydrofolic acid(DB00116)	CTCCTCCTTGGGGGACTTGCT	0.557																																					p.P413L		Atlas-SNP	.											.	MTHFR	65	.	0			c.C1238T						.						84.0	95.0	91.0					1																	11854524		2203	4300	6503	SO:0001583	missense	4524	exon8			TCCTTGGGGGACT	BC053509	CCDS137.1	1p36.3	2014-09-17	2010-05-04		ENSG00000177000	ENSG00000177000	1.5.1.20		7436	protein-coding gene	gene with protein product		607093	"""5,10-methylenetetrahydrofolate reductase (NADPH)"""			7920641	Standard	NM_005957		Approved		uc001atc.2	P42898	OTTHUMG00000002277	ENST00000376592.1:c.1238C>T	chr1.hg19:g.11854524G>A	ENSP00000365777:p.Pro413Leu	159.0	0.0		125.0	5.0	NM_005957	B2R7A6|Q5SNW6|Q5SNW9|Q7Z6M6|Q8IU73|Q9UQR2	Missense_Mutation	SNP	ENST00000376592.1	hg19	CCDS137.1	.	.	.	.	.	.	.	.	.	.	G	15.27	2.783056	0.49891	.	.	ENSG00000177000	ENST00000376592;ENST00000376583;ENST00000376590;ENST00000376585	D;D;D;D	0.82526	-1.6;-1.62;-1.6;-1.62	4.88	4.88	0.63580	.	0.103268	0.64402	D	0.000002	T	0.79399	0.4439	M	0.64404	1.975	0.80722	D	1	B;P	0.40000	0.029;0.698	B;B	0.32980	0.01;0.156	T	0.79412	-0.1814	10	0.29301	T	0.29	.	17.3796	0.87401	0.0:0.0:1.0:0.0	.	413;454	P42898;Q5SNW6	MTHR_HUMAN;.	L	413;454;413;454	ENSP00000365777:P413L;ENSP00000365767:P454L;ENSP00000365775:P413L;ENSP00000365770:P454L	ENSP00000365767:P454L	P	-	2	0	MTHFR	11777111	1.000000	0.71417	0.919000	0.36401	0.391000	0.30476	9.253000	0.95501	2.395000	0.81488	0.455000	0.32223	CCC	.	.		0.557	MTHFR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000006538.1	NM_005957	
TNFRSF8	943	hgsc.bcm.edu	37	1	12202458	12202458	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr1:12202458A>G	ENST00000263932.2	+	15	1880	c.1658A>G	c.(1657-1659)gAg>gGg	p.E553G	TNFRSF8_ENST00000479933.2_3'UTR|TNFRSF8_ENST00000417814.2_Missense_Mutation_p.E441G|TNFRSF8_ENST00000413146.2_Missense_Mutation_p.E90G	NM_001243.3|NM_001281430.1	NP_001234.2|NP_001268359.1	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily, member 8	553					cellular response to mechanical stimulus (GO:0071260)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of TRAIL biosynthetic process (GO:0045556)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Brentuximab vedotin(DB08870)	GAGGAGCTGGAGGCGGACCAT	0.652																																					p.E553G		Atlas-SNP	.											.	TNFRSF8	70	.	0			c.A1658G						.						31.0	35.0	34.0					1																	12202458		2200	4300	6500	SO:0001583	missense	943	exon15			AGCTGGAGGCGGA	M83554	CCDS144.1, CCDS59989.1	1p36	2008-02-05			ENSG00000120949	ENSG00000120949		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11923	protein-coding gene	gene with protein product		153243		CD30, D1S166E		1330892, 1310894	Standard	XM_006711049		Approved	KI-1	uc001atq.3	P28908	OTTHUMG00000001827	ENST00000263932.2:c.1658A>G	chr1.hg19:g.12202458A>G	ENSP00000263932:p.Glu553Gly	268.0	0.0		158.0	7.0	NM_001243	B1AN79|B9EGD9|D3YTD8|Q6P4D9	Missense_Mutation	SNP	ENST00000263932.2	hg19	CCDS144.1	.	.	.	.	.	.	.	.	.	.	A	16.12	3.033213	0.54896	.	.	ENSG00000120949	ENST00000263932;ENST00000417814;ENST00000413146	T;T;T	0.34275	1.37;1.37;1.37	5.4	5.4	0.78164	.	0.226584	0.29956	N	0.010772	T	0.54581	0.1867	L	0.59436	1.845	0.38392	D	0.945435	D;D	0.89917	1.0;1.0	D;D	0.80764	0.991;0.994	T	0.60777	-0.7196	10	0.72032	D	0.01	-29.3464	11.8024	0.52135	1.0:0.0:0.0:0.0	.	441;553	D3YTD8;P28908	.;TNR8_HUMAN	G	553;441;90	ENSP00000263932:E553G;ENSP00000390650:E441G;ENSP00000398337:E90G	ENSP00000263932:E553G	E	+	2	0	TNFRSF8	12125045	0.998000	0.40836	0.960000	0.40013	0.067000	0.16453	3.414000	0.52693	2.040000	0.60383	0.533000	0.62120	GAG	.	.		0.652	TNFRSF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005130.1		
HNRNPCL1	343069	hgsc.bcm.edu	37	1	12907747	12907747	+	Silent	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr1:12907747A>G	ENST00000317869.6	-	2	621	c.396T>C	c.(394-396)ccT>ccC	p.P132P		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1	O60812	HNRC1_HUMAN	heterogeneous nuclear ribonucleoprotein C-like 1	132						nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						TGGGAGGAGGAGGAGGTACAC	0.493																																					p.P132P		Atlas-SNP	.											.	HNRNPCL1	68	.	0			c.T396C						.						94.0	93.0	94.0					1																	12907747		2203	4299	6502	SO:0001819	synonymous_variant	343069	exon2			AGGAGGAGGAGGT	BC002696	CCDS30591.1	1p36.21	2013-02-12		2008-04-18	ENSG00000179172	ENSG00000179172		"""RNA binding motif (RRM) containing"""	29295	protein-coding gene	gene with protein product				HNRPCL1			Standard	NM_001013631		Approved			O60812	OTTHUMG00000001931	ENST00000317869.6:c.396T>C	chr1.hg19:g.12907747A>G		311.0	0.0		173.0	8.0	NM_001013631	B2RP44	Silent	SNP	ENST00000317869.6	hg19	CCDS30591.1																																																																																			.	.		0.493	HNRNPCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005462.1	NM_001013631	
PLEKHM2	23207	hgsc.bcm.edu	37	1	16051847	16051847	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr1:16051847T>C	ENST00000375799.3	+	8	975	c.748T>C	c.(748-750)Tcc>Ccc	p.S250P	RP11-288I21.1_ENST00000453804.1_RNA|PLEKHM2_ENST00000375793.2_Missense_Mutation_p.S230P	NM_015164.2	NP_055979.2	Q8IWE5	PKHM2_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 2	250	Interaction with KIF5B.				Golgi organization (GO:0007030)	cytoplasm (GO:0005737)	kinesin binding (GO:0019894)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		TGGTCCCCGCTCCACAGCCTC	0.672																																					p.S250P		Atlas-SNP	.											.	PLEKHM2	94	.	0			c.T748C						.						23.0	32.0	29.0					1																	16051847		1902	3836	5738	SO:0001583	missense	23207	exon8			CCCCGCTCCACAG	AB020649	CCDS44063.1	1p36.13	2013-01-10			ENSG00000116786	ENSG00000116786		"""Pleckstrin homology (PH) domain containing"""	29131	protein-coding gene	gene with protein product		609613				10048485	Standard	NM_015164		Approved	KIAA0842	uc010obo.2	Q8IWE5	OTTHUMG00000003062	ENST00000375799.3:c.748T>C	chr1.hg19:g.16051847T>C	ENSP00000364956:p.Ser250Pro	164.0	0.0		113.0	5.0	NM_015164	O94928|Q5VT65|Q6NUH9|Q7L8G1|Q8IVT7|Q8N2T4|Q96AY0|Q9NTF7	Missense_Mutation	SNP	ENST00000375799.3	hg19	CCDS44063.1	.	.	.	.	.	.	.	.	.	.	T	14.34	2.505231	0.44558	.	.	ENSG00000116786	ENST00000375799;ENST00000375793	T;T	0.58940	0.52;0.3	5.26	5.26	0.73747	.	0.178195	0.49916	D	0.000125	T	0.39733	0.1089	N	0.19112	0.55	0.50313	D	0.999866	B	0.26744	0.158	B	0.25506	0.061	T	0.28427	-1.0044	10	0.27785	T	0.31	-25.5943	9.6654	0.39981	0.0:0.0781:0.0:0.9219	.	250	Q8IWE5	PKHM2_HUMAN	P	250;230	ENSP00000364956:S250P;ENSP00000364950:S230P	ENSP00000364950:S230P	S	+	1	0	PLEKHM2	15924434	1.000000	0.71417	1.000000	0.80357	0.711000	0.40976	4.902000	0.63266	1.991000	0.58162	0.459000	0.35465	TCC	.	.		0.672	PLEKHM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008463.1	NM_015164	
SPEN	23013	hgsc.bcm.edu	37	1	16257506	16257506	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr1:16257506A>G	ENST00000375759.3	+	11	4975	c.4771A>G	c.(4771-4773)Aca>Gca	p.T1591A		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1591					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TATGGAGCTCACACGGATGCA	0.443																																					p.T1591A		Atlas-SNP	.											.	SPEN	374	.	0			c.A4771G						.						55.0	58.0	57.0					1																	16257506		2203	4300	6503	SO:0001583	missense	23013	exon11			GAGCTCACACGGA		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.4771A>G	chr1.hg19:g.16257506A>G	ENSP00000364912:p.Thr1591Ala	88.0	0.0		68.0	4.0	NM_015001	Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	ENST00000375759.3	hg19	CCDS164.1	.	.	.	.	.	.	.	.	.	.	A	17.53	3.412046	0.62511	.	.	ENSG00000065526	ENST00000375759	T	0.09911	2.93	4.76	4.76	0.60689	.	.	.	.	.	T	0.16769	0.0403	L	0.36672	1.1	0.46564	D	0.999102	D	0.61080	0.989	P	0.55391	0.775	T	0.05419	-1.0886	9	0.22109	T	0.4	-17.7366	14.4232	0.67198	1.0:0.0:0.0:0.0	.	1591	Q96T58	MINT_HUMAN	A	1591	ENSP00000364912:T1591A	ENSP00000364912:T1591A	T	+	1	0	SPEN	16130093	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.526000	0.81920	1.979000	0.57680	0.383000	0.25322	ACA	.	.		0.443	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001	
KLHDC7A	127707	hgsc.bcm.edu	37	1	18808601	18808601	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr1:18808601C>T	ENST00000400664.1	+	1	1178	c.1126C>T	c.(1126-1128)Cag>Tag	p.Q376*		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	376						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CCCAGAGCTGCAGCTGCAGCC	0.697																																					p.Q376X		Atlas-SNP	.											.	KLHDC7A	60	.	0			c.C1126T						.						12.0	16.0	14.0					1																	18808601		2120	4201	6321	SO:0001587	stop_gained	127707	exon1			GAGCTGCAGCTGC	AK096072	CCDS185.2	1p36.13	2008-02-05			ENSG00000179023	ENSG00000179023			26791	protein-coding gene	gene with protein product							Standard	NM_152375		Approved	FLJ38753	uc001bax.3	Q5VTJ3	OTTHUMG00000002431	ENST00000400664.1:c.1126C>T	chr1.hg19:g.18808601C>T	ENSP00000383505:p.Gln376*	74.0	0.0		42.0	4.0	NM_152375	Q8N8W6	Nonsense_Mutation	SNP	ENST00000400664.1	hg19	CCDS185.2	.	.	.	.	.	.	.	.	.	.	C	21.5	4.154560	0.78114	.	.	ENSG00000179023	ENST00000400664;ENST00000540290	.	.	.	5.16	5.16	0.70880	.	0.280867	0.28748	N	0.014272	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	17.203	0.86911	0.0:1.0:0.0:0.0	.	.	.	.	X	376;313	.	ENSP00000383505:Q376X	Q	+	1	0	KLHDC7A	18681188	0.956000	0.32656	0.791000	0.31998	0.114000	0.19823	3.277000	0.51654	2.400000	0.81607	0.313000	0.20887	CAG	.	.		0.697	KLHDC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006923.3	NM_152375	
OTUD3	23252	hgsc.bcm.edu	37	1	20224100	20224100	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr1:20224100A>G	ENST00000375120.3	+	4	552	c.551A>G	c.(550-552)gAc>gGc	p.D184G	OTUD3_ENST00000466697.1_3'UTR	NM_015207.1	NP_056022.1	Q5T2D3	OTUD3_HUMAN	OTU deubiquitinase 3	184	OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.				protein K11-linked deubiquitination (GO:0035871)|protein K6-linked deubiquitination (GO:0044313)		ubiquitin-specific protease activity (GO:0004843)			breast(1)|kidney(2)|large_intestine(4)|lung(1)|skin(1)	9		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000276)|Lung NSC(340;0.000338)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.12e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.000408)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GAGCACTACGACAGTGTTCGG	0.532																																					p.D184G		Atlas-SNP	.											.	OTUD3	25	.	0			c.A551G						.						114.0	114.0	114.0					1																	20224100		2035	4196	6231	SO:0001583	missense	23252	exon4			ACTACGACAGTGT	AB007928	CCDS41279.1	1p36.13	2014-02-24	2014-02-24		ENSG00000169914	ENSG00000169914		"""OTU domain containing"""	29038	protein-coding gene	gene with protein product		611758	"""OTU domain containing 3"""			9455484, 23827681	Standard	NM_015207		Approved	KIAA0459, DUBA4	uc001bcs.4	Q5T2D3	OTTHUMG00000002696	ENST00000375120.3:c.551A>G	chr1.hg19:g.20224100A>G	ENSP00000364261:p.Asp184Gly	89.0	0.0		75.0	4.0	NM_015207	O75047	Missense_Mutation	SNP	ENST00000375120.3	hg19	CCDS41279.1	.	.	.	.	.	.	.	.	.	.	A	29.2	4.988821	0.93106	.	.	ENSG00000169914	ENST00000375120	T	0.59638	0.25	5.78	5.78	0.91487	Ovarian tumour, otubain (1);	0.000000	0.85682	D	0.000000	T	0.77968	0.4210	M	0.88310	2.945	0.80722	D	1	D	0.60160	0.987	P	0.62089	0.898	T	0.82559	-0.0397	10	0.72032	D	0.01	.	14.9445	0.71020	1.0:0.0:0.0:0.0	.	184	Q5T2D3	OTUD3_HUMAN	G	184	ENSP00000364261:D184G	ENSP00000364261:D184G	D	+	2	0	OTUD3	20096687	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.501000	0.90501	2.205000	0.71048	0.533000	0.62120	GAC	.	.		0.532	OTUD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007655.1		
HSPG2	3339	hgsc.bcm.edu	37	1	22182319	22182319	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr1:22182319T>C	ENST00000374695.3	-	45	5741	c.5662A>G	c.(5662-5664)Agc>Ggc	p.S1888G	HSPG2_ENST00000430507.1_5'Flank	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	1888	Ig-like C2-type 4.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	CCTGTGGCGCTGCAGCGGAAC	0.672																																					p.S1888G		Atlas-SNP	.											.	HSPG2	311	.	0			c.A5662G						.						42.0	42.0	42.0					1																	22182319		2203	4300	6503	SO:0001583	missense	3339	exon45			TGGCGCTGCAGCG	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.5662A>G	chr1.hg19:g.22182319T>C	ENSP00000363827:p.Ser1888Gly	151.0	0.0		90.0	5.0	NM_005529	Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	ENST00000374695.3	hg19	CCDS30625.1	.	.	.	.	.	.	.	.	.	.	t	17.63	3.436349	0.62955	.	.	ENSG00000142798	ENST00000374695	T	0.67865	-0.29	5.37	5.37	0.77165	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.46758	D	0.000262	T	0.55970	0.1954	L	0.29908	0.895	0.39162	D	0.962425	B	0.29378	0.243	B	0.30716	0.119	T	0.59166	-0.7505	10	0.45353	T	0.12	.	13.3338	0.60505	0.0:0.0:0.0:1.0	.	1888	P98160	PGBM_HUMAN	G	1888	ENSP00000363827:S1888G	ENSP00000363827:S1888G	S	-	1	0	HSPG2	22054906	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	2.705000	0.47127	2.049000	0.60858	0.529000	0.55759	AGC	.	.		0.672	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529	
KDM1A	23028	hgsc.bcm.edu	37	1	23403758	23403758	+	Missense_Mutation	SNP	T	T	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr1:23403758T>A	ENST00000356634.3	+	14	1849	c.1700T>A	c.(1699-1701)gTa>gAa	p.V567E	KDM1A_ENST00000542151.1_Missense_Mutation_p.V591E|KDM1A_ENST00000400181.4_Missense_Mutation_p.V591E|RP1-184J9.2_ENST00000427154.1_RNA	NM_015013.3	NP_055828.2	O60341	KDM1A_HUMAN	lysine (K)-specific demethylase 1A	567	Demethylase activity.				blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|granulocyte differentiation (GO:0030851)|histone H3-K4 demethylation (GO:0034720)|histone H3-K9 demethylation (GO:0033169)|in utero embryonic development (GO:0001701)|muscle cell development (GO:0055001)|negative regulation of DNA binding (GO:0043392)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of protein binding (GO:0032091)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pituitary gland development (GO:0021983)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein demethylation (GO:0006482)|regulation of primitive erythrocyte differentiation (GO:0010725)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|demethylase activity (GO:0032451)|enzyme binding (GO:0019899)|flavin adenine dinucleotide binding (GO:0050660)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-K4 specific) (GO:0032453)|histone demethylase activity (H3-K9 specific) (GO:0032454)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|MRF binding (GO:0043426)|oxidoreductase activity (GO:0016491)|p53 binding (GO:0002039)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						CACCTGACAGTAAGGAATGGC	0.448																																					p.V591E		Atlas-SNP	.											.	KDM1A	49	.	0			c.T1772A						.						115.0	100.0	105.0					1																	23403758		2203	4300	6503	SO:0001583	missense	23028	exon16			TGACAGTAAGGAA	AL031428	CCDS30627.1, CCDS53278.1	1p36.12	2011-07-01	2009-09-29	2009-09-29	ENSG00000004487	ENSG00000004487		"""Chromatin-modifying enzymes / K-demethylases"""	29079	protein-coding gene	gene with protein product		609132	"""amine oxidase (flavin containing) domain 2"", ""lysine (K)-specific demethylase 1"""	AOF2, KDM1		9628581, 12493763	Standard	NM_015013		Approved	KIAA0601, BHC110, LSD1	uc001bgj.2	O60341	OTTHUMG00000003220	ENST00000356634.3:c.1700T>A	chr1.hg19:g.23403758T>A	ENSP00000349049:p.Val567Glu	126.0	0.0		79.0	5.0	NM_001009999	A8MWP9|Q5TH94|Q5TH95|Q86VT7|Q8IXK4|Q8NDP6|Q8TAZ3|Q96AW4	Missense_Mutation	SNP	ENST00000356634.3	hg19	CCDS30627.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.421652	0.83559	.	.	ENSG00000004487	ENST00000356634;ENST00000400181;ENST00000542151	T;T;T	0.10960	2.82;2.82;2.82	5.72	4.59	0.56863	Amine oxidase (1);	0.000000	0.85682	D	0.000000	T	0.40546	0.1121	M	0.92317	3.295	0.80722	D	1	D;D	0.89917	0.996;1.0	D;D	0.85130	0.958;0.997	T	0.47661	-0.9100	10	0.87932	D	0	-21.9466	11.0733	0.48016	0.0:0.0723:0.0:0.9277	.	591;567	O60341-2;O60341	.;KDM1A_HUMAN	E	567;591;591	ENSP00000349049:V567E;ENSP00000383042:V591E;ENSP00000439072:V591E	ENSP00000349049:V567E	V	+	2	0	KDM1A	23276345	1.000000	0.71417	0.998000	0.56505	0.964000	0.63967	8.021000	0.88750	0.983000	0.38602	0.533000	0.62120	GTA	.	.		0.448	KDM1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008880.3	NM_015013	
ZNF436	80818	hgsc.bcm.edu	37	1	23689249	23689249	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr1:23689249A>G	ENST00000314011.4	-	4	762	c.626T>C	c.(625-627)cTg>cCg	p.L209P	ZNF436_ENST00000374608.3_Missense_Mutation_p.L209P	NM_001077195.1	NP_001070663.1	Q9C0F3	ZN436_HUMAN	zinc finger protein 436	209					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;5.97e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000977)|KIRC - Kidney renal clear cell carcinoma(1967;0.00336)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		ATGCTGAATCAGGTGAGAACT	0.453																																					p.L209P		Atlas-SNP	.											.	ZNF436	49	.	0			c.T626C						.						128.0	134.0	132.0					1																	23689249		2203	4300	6503	SO:0001583	missense	80818	exon4			TGAATCAGGTGAG	AB051497	CCDS233.1	1p36	2013-01-08			ENSG00000125945	ENSG00000125945		"""Zinc fingers, C2H2-type"", ""-"""	20814	protein-coding gene	gene with protein product		611703				11214970	Standard	NM_001077195		Approved	KIAA1710, Zfp46	uc001bgt.3	Q9C0F3	OTTHUMG00000003232	ENST00000314011.4:c.626T>C	chr1.hg19:g.23689249A>G	ENSP00000313582:p.Leu209Pro	241.0	0.0		168.0	8.0	NM_001077195	Q658I9	Missense_Mutation	SNP	ENST00000314011.4	hg19	CCDS233.1	.	.	.	.	.	.	.	.	.	.	A	14.08	2.430000	0.43122	.	.	ENSG00000125945	ENST00000314011;ENST00000374609;ENST00000374608	T;T;T	0.53857	0.6;0.6;0.6	5.79	4.67	0.58626	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.51477	D	0.000083	T	0.62122	0.2402	H	0.94734	3.575	0.58432	D	0.999999	B	0.24651	0.108	B	0.12837	0.008	T	0.64947	-0.6287	10	0.87932	D	0	-30.4376	9.954	0.41655	0.9203:0.0:0.0797:0.0	.	209	Q9C0F3	ZN436_HUMAN	P	209	ENSP00000313582:L209P;ENSP00000363737:L209P;ENSP00000363736:L209P	ENSP00000313582:L209P	L	-	2	0	ZNF436	23561836	1.000000	0.71417	1.000000	0.80357	0.532000	0.34746	9.090000	0.94144	1.031000	0.39867	-0.250000	0.11733	CTG	.	.		0.453	ZNF436-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008908.1	NM_030634	
MAN1C1	57134	hgsc.bcm.edu	37	1	26080014	26080014	+	Silent	SNP	C	C	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr1:26080014C>T	ENST00000374332.4	+	5	1204	c.874C>T	c.(874-876)Ctg>Ttg	p.L292L	MAN1C1_ENST00000473891.1_3'UTR|MAN1C1_ENST00000374329.1_Silent_p.L63L|MAN1C1_ENST00000263979.3_Silent_p.L112L	NM_020379.2	NP_065112.1	Q9NR34	MA1C1_HUMAN	mannosidase, alpha, class 1C, member 1	292					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	calcium ion binding (GO:0005509)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2)	25		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)		AGAGAAGCTCCTGCCGGCGTT	0.587																																					p.L292L		Atlas-SNP	.											.	MAN1C1	48	.	0			c.C874T						.						51.0	48.0	49.0					1																	26080014		2203	4300	6503	SO:0001819	synonymous_variant	57134	exon5			AAGCTCCTGCCGG	AF261655	CCDS265.1	1p35	2008-02-05			ENSG00000117643	ENSG00000117643			19080	protein-coding gene	gene with protein product						10915796	Standard	XM_005245945		Approved	HMIC	uc001bkm.2	Q9NR34	OTTHUMG00000004417	ENST00000374332.4:c.874C>T	chr1.hg19:g.26080014C>T		158.0	0.0		102.0	5.0	NM_020379	A6NNE2|B2RNP2|Q9Y545	Silent	SNP	ENST00000374332.4	hg19	CCDS265.1																																																																																			.	.		0.587	MAN1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012828.3	NM_020379	
EXTL1	2134	hgsc.bcm.edu	37	1	26356101	26356101	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr1:26356101T>C	ENST00000374280.3	+	3	1751	c.884T>C	c.(883-885)aTc>aCc	p.I295T	EXTL1_ENST00000484339.1_Intron	NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN	exostosin-like glycosyltransferase 1	295					protein glycosylation (GO:0006486)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		GCCGGCTGCATCCCAGTGCTT	0.652																																					p.I295T		Atlas-SNP	.											.	EXTL1	61	.	0			c.T884C						.						14.0	15.0	15.0					1																	26356101		2203	4298	6501	SO:0001583	missense	2134	exon3			GCTGCATCCCAGT	U67191	CCDS271.1	1p36.1	2013-03-01	2013-03-01		ENSG00000158008	ENSG00000158008	2.4.1.224	"""Exostosin glycosyltransferase family"""	3515	protein-coding gene	gene with protein product	"""glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase"", ""alpha-N-acetylglucosaminyltransferase II"", ""glucuronyl-N-acetylglucosaminylproteoglycan alpha-1,4-N- acetylglucosaminyltransferase"", ""exostosin-L"""	601738	"""exostoses (multiple)-like 1"""			9037597	Standard	NM_004455		Approved	EXTL, MGC70794	uc001blf.3	Q92935	OTTHUMG00000007509	ENST00000374280.3:c.884T>C	chr1.hg19:g.26356101T>C	ENSP00000363398:p.Ile295Thr	120.0	0.0		95.0	4.0	NM_004455	Q6GSC1	Missense_Mutation	SNP	ENST00000374280.3	hg19	CCDS271.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.308971	0.81247	.	.	ENSG00000158008	ENST00000374280	D	0.99060	-5.38	4.69	4.69	0.59074	.	0.125717	0.52532	D	0.000078	D	0.99248	0.9738	M	0.89214	3.015	0.51012	D	0.999903	D	0.67145	0.996	D	0.72625	0.978	D	0.99226	1.0880	10	0.87932	D	0	-14.8822	11.6295	0.51166	0.0:0.0:0.0:1.0	.	295	Q92935	EXTL1_HUMAN	T	295	ENSP00000363398:I295T	ENSP00000363398:I295T	I	+	2	0	EXTL1	26228688	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.498000	0.81546	1.971000	0.57363	0.459000	0.35465	ATC	.	.		0.652	EXTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019749.1	NM_004455	
ARID1A	8289	hgsc.bcm.edu	37	1	27094372	27094372	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr1:27094372A>G	ENST00000324856.7	+	11	3451	c.3080A>G	c.(3079-3081)tAt>tGt	p.Y1027C	ARID1A_ENST00000374152.2_Missense_Mutation_p.Y644C|ARID1A_ENST00000457599.2_Missense_Mutation_p.Y1027C	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1027	ARID. {ECO:0000255|PROSITE- ProRule:PRU00355}.				androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GTGGACCGTTATCTGGCCTTC	0.507			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																p.Y1027C		Atlas-SNP	.		Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	.	ARID1A	842	.	0			c.A3080G						.						216.0	175.0	189.0					1																	27094372		2203	4300	6503	SO:0001583	missense	8289	exon11			ACCGTTATCTGGC	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.3080A>G	chr1.hg19:g.27094372A>G	ENSP00000320485:p.Tyr1027Cys	348.0	0.0		223.0	62.0	NM_006015	D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Missense_Mutation	SNP	ENST00000324856.7	hg19	CCDS285.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.471064	0.84533	.	.	ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152	T;T;T	0.46063	0.88;0.88;0.88	5.17	5.17	0.71159	ARID/BRIGHT DNA-binding domain (5);	0.060291	0.64402	D	0.000002	T	0.62097	0.2400	M	0.63843	1.955	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.997;1.0;1.0	T	0.65496	-0.6154	10	0.72032	D	0.01	-4.6331	15.1717	0.72878	1.0:0.0:0.0:0.0	.	1027;1027;681	O14497;O14497-2;Q4LE49	ARI1A_HUMAN;.;.	C	1027;1027;644	ENSP00000320485:Y1027C;ENSP00000387636:Y1027C;ENSP00000363267:Y644C	ENSP00000320485:Y1027C	Y	+	2	0	ARID1A	26966959	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	9.139000	0.94554	2.163000	0.67991	0.533000	0.62120	TAT	.	.		0.507	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135	
NR0B2	8431	hgsc.bcm.edu	37	1	27240242	27240242	+	Missense_Mutation	SNP	C	C	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr1:27240242C>A	ENST00000254227.3	-	1	215	c.190G>T	c.(190-192)Gcc>Tcc	p.A64S		NM_021969.2	NP_068804.1	Q15466	NR0B2_HUMAN	nuclear receptor subfamily 0, group B, member 2	64	Ligand-binding. {ECO:0000250}.				cholesterol metabolic process (GO:0008203)|gene expression (GO:0010467)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ regeneration (GO:0031100)|positive regulation of insulin secretion (GO:0032024)|response to glucose (GO:0009749)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription corepressor activity (GO:0003714)			NS(1)|large_intestine(1)|lung(3)	5		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.01e-51)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)		ACTGTCTTGGCCAGAACATCC	0.672																																					p.A64S		Atlas-SNP	.											.	NR0B2	14	.	0			c.G190T						.						22.0	26.0	24.0					1																	27240242		2203	4300	6503	SO:0001583	missense	8431	exon1			TCTTGGCCAGAAC	AF044316	CCDS291.1	1p36.1	2013-01-16			ENSG00000131910	ENSG00000131910		"""Nuclear hormone receptors"""	7961	protein-coding gene	gene with protein product		604630				9603951	Standard	NM_021969		Approved	SHP	uc001bnf.3	Q15466	OTTHUMG00000004231	ENST00000254227.3:c.190G>T	chr1.hg19:g.27240242C>A	ENSP00000254227:p.Ala64Ser	66.0	0.0		41.0	4.0	NM_021969	F1D8P5|Q5QP36	Missense_Mutation	SNP	ENST00000254227.3	hg19	CCDS291.1	.	.	.	.	.	.	.	.	.	.	C	18.32	3.597846	0.66332	.	.	ENSG00000131910	ENST00000254227	D	0.84223	-1.82	5.32	5.32	0.75619	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.329841	0.31636	N	0.007306	T	0.81592	0.4855	L	0.54323	1.7	0.35664	D	0.812785	P	0.35226	0.491	B	0.31946	0.138	D	0.84511	0.0622	10	0.32370	T	0.25	-24.7489	16.0321	0.80585	0.0:0.8657:0.1343:0.0	.	64	Q15466	NR0B2_HUMAN	S	64	ENSP00000254227:A64S	ENSP00000254227:A64S	A	-	1	0	NR0B2	27112829	0.955000	0.32602	1.000000	0.80357	0.994000	0.84299	1.938000	0.40203	2.485000	0.83878	0.561000	0.74099	GCC	.	.		0.672	NR0B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012185.1		
STX12	23673	hgsc.bcm.edu	37	1	28136791	28136791	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr1:28136791C>A	ENST00000373943.4	+	5	586	c.461C>A	c.(460-462)tCa>tAa	p.S154*		NM_177424.2	NP_803173.1	Q86Y82	STX12_HUMAN	syntaxin 12	154					cholesterol efflux (GO:0033344)|intracellular protein transport (GO:0006886)|protein stabilization (GO:0050821)|synaptic vesicle exocytosis (GO:0016079)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|phagocytic vesicle (GO:0045335)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)|SNARE binding (GO:0000149)			breast(1)|central_nervous_system(1)|large_intestine(3)|lung(3)	8		Colorectal(325;3.46e-05)|all_lung(284;9.43e-05)|Lung NSC(340;0.000185)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;3.96e-24)|Colorectal(126;3.46e-08)|COAD - Colon adenocarcinoma(152;1.83e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00258)|KIRC - Kidney renal clear cell carcinoma(1967;0.00302)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0649)		CAGCTGGTCTCATTTGACAGG	0.368																																					p.S154X	Ovarian(5;5 342 2097 9488 34083)	Atlas-SNP	.											.	STX12	26	.	0			c.C461A						.						95.0	94.0	95.0					1																	28136791		2203	4300	6503	SO:0001587	stop_gained	23673	exon5			TGGTCTCATTTGA	BC046999	CCDS310.1	1p35.3	2008-05-14			ENSG00000117758	ENSG00000117758			11430	protein-coding gene	gene with protein product		606892				9507000	Standard	NM_177424		Approved	STX13, STX14	uc001bou.4	Q86Y82	OTTHUMG00000003730	ENST00000373943.4:c.461C>A	chr1.hg19:g.28136791C>A	ENSP00000363054:p.Ser154*	132.0	0.0		87.0	4.0	NM_177424	B1AJQ7|O95564	Nonsense_Mutation	SNP	ENST00000373943.4	hg19	CCDS310.1	.	.	.	.	.	.	.	.	.	.	C	38	6.748282	0.97809	.	.	ENSG00000117758	ENST00000373943;ENST00000440806	.	.	.	5.72	5.72	0.89469	.	0.175694	0.52532	D	0.000078	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.6687	18.0594	0.89372	0.0:1.0:0.0:0.0	.	.	.	.	X	154	.	ENSP00000363054:S154X	S	+	2	0	STX12	28009378	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.453000	0.73488	2.704000	0.92352	0.563000	0.77884	TCA	.	.		0.368	STX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010519.1	NM_177424	
COL16A1	1307	hgsc.bcm.edu	37	1	32149324	32149324	+	Missense_Mutation	SNP	C	C	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr1:32149324C>T	ENST00000373672.3	-	34	2879	c.2363G>A	c.(2362-2364)gGa>gAa	p.G788E	COL16A1_ENST00000373668.3_Missense_Mutation_p.G788E|COL16A1_ENST00000271069.6_Missense_Mutation_p.G787E	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	788	Collagen-like 4.|Triple-helical region 5 (COL5) with 3 imperfections.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female pregnancy (GO:0007565)|integrin-mediated signaling pathway (GO:0007229)	collagen type XVI trimer (GO:0005597)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		TCCCTGGACTCCCCTTCCTGG	0.607																																					p.G788E	Colon(143;498 1786 21362 25193 36625)	Atlas-SNP	.											COL16A1,NS,carcinoma,0,1	COL16A1	137	.	0			c.G2363A						.						74.0	93.0	87.0					1																	32149324		1980	4153	6133	SO:0001583	missense	1307	exon34			TGGACTCCCCTTC	M92642	CCDS41297.1	1p35-p34	2013-01-16			ENSG00000084636	ENSG00000084636		"""Collagens"""	2193	protein-coding gene	gene with protein product		120326				1631157	Standard	NM_001856		Approved		uc001btk.1	Q07092	OTTHUMG00000003883	ENST00000373672.3:c.2363G>A	chr1.hg19:g.32149324C>T	ENSP00000362776:p.Gly788Glu	111.0	0.0		74.0	4.0	NM_001856	Q16593|Q59F89|Q71RG9	Missense_Mutation	SNP	ENST00000373672.3	hg19	CCDS41297.1	.	.	.	.	.	.	.	.	.	.	C	13.85	2.360954	0.41801	.	.	ENSG00000084636	ENST00000373672;ENST00000271069;ENST00000458715;ENST00000373668	D;D;D;D	0.99353	-5.77;-5.77;-5.52;-5.77	5.17	2.28	0.28536	.	0.126713	0.51477	D	0.000088	D	0.99042	0.9672	H	0.98333	4.205	0.23978	N	0.996285	B;B;B	0.15473	0.013;0.003;0.002	B;B;B	0.23419	0.046;0.013;0.008	D	0.99838	1.1059	10	0.72032	D	0.01	.	7.1895	0.25818	0.0:0.7033:0.1397:0.157	.	788;788;788	A6NCT7;Q07092;Q07092-2	.;COGA1_HUMAN;.	E	788;787;9;788	ENSP00000362776:G788E;ENSP00000271069:G787E;ENSP00000411457:G9E;ENSP00000362772:G788E	ENSP00000271069:G787E	G	-	2	0	COL16A1	31921911	0.001000	0.12720	0.028000	0.17463	0.897000	0.52465	0.032000	0.13732	0.414000	0.25790	-0.191000	0.12829	GGA	.	.		0.607	COL16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011057.2	NM_001856	
EIF3I	8668	hgsc.bcm.edu	37	1	32696740	32696740	+	Silent	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr1:32696740T>C	ENST00000373586.1	+	11	993	c.921T>C	c.(919-921)ggT>ggC	p.G307G	MTMR9LP_ENST00000441044.1_RNA	NM_003757.2	NP_003748.1			eukaryotic translation initiation factor 3, subunit I											breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)				GCGAAGATGGTTACGTCCGTA	0.537																																					p.G307G	Colon(102;1138 2140 2180 17876)	Atlas-SNP	.											.	EIF3I	38	.	0			c.T921C						.						85.0	85.0	85.0					1																	32696740		2203	4300	6503	SO:0001819	synonymous_variant	8668	exon11			AGATGGTTACGTC	U39067	CCDS357.1	1p34.1	2013-01-10	2007-07-27	2007-07-27	ENSG00000084623	ENSG00000084623		"""WD repeat domain containing"""	3272	protein-coding gene	gene with protein product		603911	"""eukaryotic translation initiation factor 3, subunit 2 beta, 36kDa"""	EIF3S2		7566156, 8995409	Standard	NM_003757		Approved	TRIP-1, eIF3-beta, eIF3-p36, eIF3i	uc009vuc.3	Q13347	OTTHUMG00000007364	ENST00000373586.1:c.921T>C	chr1.hg19:g.32696740T>C		117.0	0.0		84.0	4.0	NM_003757		Silent	SNP	ENST00000373586.1	hg19	CCDS357.1																																																																																			.	.		0.537	EIF3I-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019282.2	NM_003757	
ZBTB8B	728116	hgsc.bcm.edu	37	1	32950817	32950817	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr1:32950817A>G	ENST00000609129.1	+	4	1364	c.1286A>G	c.(1285-1287)gAc>gGc	p.D429G	RP1-27O5.3_ENST00000480336.1_Missense_Mutation_p.D429G	NM_001145720.1	NP_001139192.1	Q8NAP8	ZBT8B_HUMAN	zinc finger and BTB domain containing 8B	429					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)	1						TGCGTTACAGACACACCCGAT	0.542																																					p.D429G		Atlas-SNP	.											.	ZBTB8B	28	.	0			c.A1286G						.						75.0	62.0	66.0					1																	32950817		692	1591	2283	SO:0001583	missense	728116	exon4			TTACAGACACACC	AL442095	CCDS44104.1	1p35.1	2013-01-08			ENSG00000215897	ENSG00000273274		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	37057	protein-coding gene	gene with protein product							Standard	NM_001145720		Approved	RP1-27O5.1, DKFZp547H154, ZNF916B	uc001bvl.4	Q8NAP8	OTTHUMG00000167087	ENST00000609129.1:c.1286A>G	chr1.hg19:g.32950817A>G	ENSP00000476499:p.Asp429Gly	104.0	0.0		78.0	5.0	NM_001145720	Q15DG5|Q5VXR5|Q69YT7	Missense_Mutation	SNP	ENST00000609129.1	hg19	CCDS44104.1	.	.	.	.	.	.	.	.	.	.	A	8.081	0.772315	0.16051	.	.	ENSG00000215897	ENST00000415091	T	0.11930	2.73	5.08	2.55	0.30701	.	0.146593	0.64402	D	0.000020	T	0.07098	0.0180	N	0.24115	0.695	0.32741	N	0.507727	B	0.02656	0.0	B	0.01281	0.0	T	0.24728	-1.0152	10	0.11794	T	0.64	.	6.3262	0.21244	0.606:0.3021:0.0919:0.0	.	429	Q8NAP8	ZBT8B_HUMAN	G	429	ENSP00000400836:D429G	ENSP00000435749:D429G	D	+	2	0	ZBTB8B	32723404	0.998000	0.40836	0.566000	0.28421	0.575000	0.36095	3.888000	0.56204	1.015000	0.39444	0.533000	0.62120	GAC	.	.		0.542	ZBTB8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392986.2	NM_001145720	
PHC2	1912	hgsc.bcm.edu	37	1	33794700	33794700	+	Silent	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr1:33794700T>C	ENST00000257118.5	-	13	2246	c.2193A>G	c.(2191-2193)acA>acG	p.T731T	PHC2_ENST00000485928.1_5'UTR|PHC2_ENST00000431992.1_Silent_p.T702T|PHC2_ENST00000373418.3_Silent_p.T196T|PHC2_ENST00000373422.3_Silent_p.T337T|PHC2_ENST00000373416.1_Silent_p.T196T|PHC2_ENST00000419414.2_Silent_p.T732T	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN	polyhomeotic homolog 2 (Drosophila)	731					multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	heterochromatin (GO:0000792)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				CCTGGCTGTGTGTTAGCTGCA	0.542																																					p.T731T		Atlas-SNP	.											.	PHC2	78	.	0			c.A2193G						.						79.0	70.0	73.0					1																	33794700		2203	4300	6503	SO:0001819	synonymous_variant	1912	exon13			GCTGTGTGTTAGC	AJ419231	CCDS378.1, CCDS379.1	1p34.3	2013-01-10	2006-09-12	2002-11-15	ENSG00000134686	ENSG00000134686		"""Sterile alpha motif (SAM) domain containing"""	3183	protein-coding gene	gene with protein product		602979	"""early development regulator 2 (homolog of polyhomeotic 2)"", ""polyhomeotic-like 2 (Drosophila)"""	EDR2		9121482, 12384788	Standard	NM_198040		Approved	HPH2	uc001bxg.1	Q8IXK0	OTTHUMG00000004133	ENST00000257118.5:c.2193A>G	chr1.hg19:g.33794700T>C		88.0	0.0		78.0	4.0	NM_198040	A1L4Q1|A8KA40|D3DPR2|Q2TAL3|Q5T0C1|Q6NUJ6|Q6ZQR1|Q8N306|Q8TAG8|Q96BL4|Q9Y4Y7	Silent	SNP	ENST00000257118.5	hg19	CCDS378.1																																																																																			.	.		0.542	PHC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000011895.1	NM_198040	
ZSCAN20	7579	hgsc.bcm.edu	37	1	33955141	33955141	+	Silent	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr1:33955141T>C	ENST00000361328.3	+	5	858	c.705T>C	c.(703-705)caT>caC	p.H235H	ZSCAN20_ENST00000373413.2_Intron	NM_145238.3	NP_660281	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	235					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				CTGGCAAACATGCTGAGAAGG	0.562																																					p.H235H		Atlas-SNP	.											.	ZSCAN20	107	.	0			c.T705C						.						56.0	59.0	58.0					1																	33955141		1907	4122	6029	SO:0001819	synonymous_variant	7579	exon5			CAAACATGCTGAG	X52360	CCDS41300.1	1p34.3	2013-01-08	2007-02-20	2007-02-20	ENSG00000121903	ENSG00000121903		"""-"", ""Zinc fingers, C2H2-type"""	13093	protein-coding gene	gene with protein product		611315	"""zinc finger protein 31 (KOX 29)"", ""zinc finger protein 31"""	ZNF360, ZNF31		2288909	Standard	NM_145238		Approved	KOX29	uc001bxj.4	P17040	OTTHUMG00000004173	ENST00000361328.3:c.705T>C	chr1.hg19:g.33955141T>C		82.0	0.0		58.0	4.0	NM_145238	A8K2D0|B1ALI4|B1ALI5|B1ALI6|Q6ZN23|Q96FA9|Q96H84	Silent	SNP	ENST00000361328.3	hg19	CCDS41300.1																																																																																			.	.		0.562	ZSCAN20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277003.2	NM_145238	
ZMYM4	9202	hgsc.bcm.edu	37	1	35846860	35846860	+	Splice_Site	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr1:35846860A>G	ENST00000314607.6	+	8	1262	c.1182A>G	c.(1180-1182)aaA>aaG	p.K394K	ZMYM4_ENST00000373297.2_Splice_Site_p.K394K	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	394					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TTATTTTTAGAGACATTTTAA	0.308																																					p.K394K		Atlas-SNP	.											.	ZMYM4	143	.	0			c.A1182G						.						68.0	75.0	72.0					1																	35846860		2197	4296	6493	SO:0001630	splice_region_variant	9202	exon8			TTTTAGAGACATT	AB007885	CCDS389.1	1p34-p32	2013-01-08	2005-12-19	2005-12-19	ENSG00000146463	ENSG00000146463		"""Zinc fingers, MYM type"""	13055	protein-coding gene	gene with protein product		613568	"""zinc finger protein 262"""	ZNF262		10449923	Standard	NM_005095		Approved	KIAA0425, ZNF198L3, MYM	uc001byt.3	Q5VZL5	OTTHUMG00000004241	ENST00000314607.6:c.1182-1A>G	chr1.hg19:g.35846860A>G		89.0	0.0		82.0	4.0	NM_005095	A0JP19|A0JP20|O43308|Q5T5E1|Q5T5E2|Q7L3Q4	Silent	SNP	ENST00000314607.6	hg19	CCDS389.1	.	.	.	.	.	.	.	.	.	.	A	11.66	1.703972	0.30232	.	.	ENSG00000146463	ENST00000457946	.	.	.	5.39	3.05	0.35203	.	.	.	.	.	T	0.57315	0.2045	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49588	-0.8924	4	.	.	.	.	8.0777	0.30726	0.7517:0.0:0.2483:0.0	.	.	.	.	G	143	.	.	R	+	1	2	ZMYM4	35619447	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.402000	0.34600	0.347000	0.23924	0.482000	0.46254	AGA	.	.		0.308	ZMYM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012207.3	NM_005095	Silent
AGO1	26523	hgsc.bcm.edu	37	1	36367622	36367622	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr1:36367622A>G	ENST00000373204.4	+	10	1427	c.1214A>G	c.(1213-1215)gAg>gGg	p.E405G	AGO1_ENST00000373206.1_Missense_Mutation_p.E330G	NM_012199.2	NP_036331.1	Q9UL18	AGO1_HUMAN	argonaute RISC catalytic component 1	405					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|nuclear-transcribed mRNA catabolic process (GO:0000956)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)										GACATGACGGAGGTGACAGGG	0.562																																					p.E405G		Atlas-SNP	.											EIF2C1,colon,carcinoma,0,1	.	.	.	0			c.A1214G						.						82.0	81.0	81.0					1																	36367622		2203	4300	6503	SO:0001583	missense	26523	exon10			TGACGGAGGTGAC	AF093097	CCDS398.1	1p34.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000092847	ENSG00000092847		"""Argonaute/PIWI family"""	3262	protein-coding gene	gene with protein product	"""argonaute 1"""	606228	"""eukaryotic translation initiation factor 2C, 1"""	EIF2C1		10534406, 12906857	Standard	NM_012199		Approved	hAGO1	uc001bzl.3	Q9UL18	OTTHUMG00000007381	ENST00000373204.4:c.1214A>G	chr1.hg19:g.36367622A>G	ENSP00000362300:p.Glu405Gly	204.0	0.0		121.0	5.0	NM_012199	Q5TA57|Q6P4S0	Missense_Mutation	SNP	ENST00000373204.4	hg19	CCDS398.1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.194735	0.78902	.	.	ENSG00000092847	ENST00000373206;ENST00000373204	T;T	0.07216	3.21;3.21	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.20577	0.0495	M	0.89904	3.07	0.80722	D	1	P	0.34800	0.469	B	0.35182	0.197	T	0.01786	-1.1274	10	0.51188	T	0.08	-24.6192	16.6093	0.84858	1.0:0.0:0.0:0.0	.	405	Q9UL18	AGO1_HUMAN	G	330;405	ENSP00000362302:E330G;ENSP00000362300:E405G	ENSP00000362300:E405G	E	+	2	0	EIF2C1	36140209	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.339000	0.96797	2.324000	0.78689	0.533000	0.62120	GAG	.	.		0.562	AGO1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019337.3		
STK40	83931	hgsc.bcm.edu	37	1	36814368	36814368	+	Silent	SNP	C	C	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr1:36814368C>A	ENST00000373129.3	-	8	1078	c.672G>T	c.(670-672)gtG>gtT	p.V224V	STK40_ENST00000359297.2_Silent_p.V224V|STK40_ENST00000373130.3_Silent_p.V229V|STK40_ENST00000373132.3_Silent_p.V224V	NM_032017.1	NP_114406.1	Q8N2I9	STK40_HUMAN	serine/threonine kinase 40	224	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				glycogen metabolic process (GO:0005977)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|regulation of gene expression (GO:0010468)|regulation of MAPK cascade (GO:0043408)|respiratory system process (GO:0003016)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)	13		Myeloproliferative disorder(586;0.0393)				CCCCCTCGCTCACCAGATGCT	0.567																																					p.V224V		Atlas-SNP	.											.	STK40	53	.	0			c.G672T						.						103.0	80.0	88.0					1																	36814368		2203	4300	6503	SO:0001819	synonymous_variant	83931	exon8			CTCGCTCACCAGA	BC008344	CCDS407.1, CCDS60089.1	1p34.3	2008-02-05			ENSG00000196182	ENSG00000196182			21373	protein-coding gene	gene with protein product		609437					Standard	NM_032017		Approved	MGC4796, SgK495	uc001cak.1	Q8N2I9	OTTHUMG00000008238	ENST00000373129.3:c.672G>T	chr1.hg19:g.36814368C>A		154.0	0.0		114.0	5.0	NM_032017	D3DPS8|Q5VTK8|Q5VTK9|Q6ZMN1|Q8N2J8|Q8N3I6|Q96HN6|Q96I44|Q9BSA3|Q9H7H6	Silent	SNP	ENST00000373129.3	hg19	CCDS407.1																																																																																			.	.		0.567	STK40-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022592.1	NM_032017	
ZC3H12A	80149	hgsc.bcm.edu	37	1	37945926	37945926	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr1:37945926T>C	ENST00000373087.6	+	3	595	c.479T>C	c.(478-480)aTc>aCc	p.I160T		NM_025079.2	NP_079355.2			zinc finger CCCH-type containing 12A											NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TGCCGGGGCATCCTGCTGGCA	0.632																																					p.I160T		Atlas-SNP	.											.	ZC3H12A	58	.	0			c.T479C						.						84.0	74.0	77.0					1																	37945926		2203	4300	6503	SO:0001583	missense	80149	exon3			GGGGCATCCTGCT		CCDS417.1	1p34.3	2012-07-05			ENSG00000163874	ENSG00000163874		"""Zinc fingers, CCCH-type domain containing"""	26259	protein-coding gene	gene with protein product	"""MCP induced protein 1"""	610562				18178554, 22055188	Standard	NM_025079		Approved	FLJ23231, MCPIP1	uc001cbb.4	Q5D1E8	OTTHUMG00000004221	ENST00000373087.6:c.479T>C	chr1.hg19:g.37945926T>C	ENSP00000362179:p.Ile160Thr	202.0	0.0		119.0	5.0	NM_025079		Missense_Mutation	SNP	ENST00000373087.6	hg19	CCDS417.1	.	.	.	.	.	.	.	.	.	.	T	24.6	4.548188	0.86022	.	.	ENSG00000163874	ENST00000373087;ENST00000373082	T	0.55588	0.51	4.8	4.8	0.61643	Ribonuclease Zc3h12a-like (1);	0.000000	0.85682	D	0.000000	T	0.79197	0.4405	H	0.94462	3.54	0.80722	D	1	D	0.61080	0.989	D	0.69824	0.966	D	0.85644	0.1278	10	0.87932	D	0	-21.2355	14.6504	0.68792	0.0:0.0:0.0:1.0	.	160	Q5D1E8	ZC12A_HUMAN	T	160	ENSP00000362179:I160T	ENSP00000362174:I160T	I	+	2	0	ZC3H12A	37718513	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.606000	0.82863	1.934000	0.56057	0.460000	0.39030	ATC	.	.		0.632	ZC3H12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012154.2	NM_025079	
MACF1	23499	hgsc.bcm.edu	37	1	39757653	39757653	+	Silent	SNP	C	C	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr1:39757653C>T	ENST00000372915.3	+	15	1959	c.1872C>T	c.(1870-1872)caC>caT	p.H624H	MACF1_ENST00000564288.1_Silent_p.H619H|MACF1_ENST00000567887.1_Silent_p.H656H|MACF1_ENST00000317713.7_Silent_p.H624H|MACF1_ENST00000361689.2_Silent_p.H624H|MACF1_ENST00000545844.1_Silent_p.H624H|MACF1_ENST00000539005.1_Silent_p.H624H			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	624					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CACAGCAGCACATCCATACGA	0.478																																					p.H624H		Atlas-SNP	.											.	MACF1	909	.	0			c.C1872T						.						129.0	109.0	116.0					1																	39757653		2203	4300	6503	SO:0001819	synonymous_variant	23499	exon17			GCAGCACATCCAT	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.1872C>T	chr1.hg19:g.39757653C>T		109.0	0.0		84.0	4.0	NM_012090	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Silent	SNP	ENST00000372915.3	hg19																																																																																				.	.		0.478	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044	
MACF1	23499	hgsc.bcm.edu	37	1	39818713	39818713	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr1:39818713A>G	ENST00000372915.3	+	43	11336	c.11249A>G	c.(11248-11250)aAg>aGg	p.K3750R	MACF1_ENST00000564288.1_Missense_Mutation_p.K3745R|MACF1_ENST00000567887.1_Missense_Mutation_p.K3782R|MACF1_ENST00000317713.7_Missense_Mutation_p.K1683R|MACF1_ENST00000361689.2_Missense_Mutation_p.K1683R|MACF1_ENST00000289893.4_Missense_Mutation_p.K2185R|MACF1_ENST00000545844.1_Missense_Mutation_p.K1683R|MACF1_ENST00000539005.1_Missense_Mutation_p.K1683R|MACF1_ENST00000476350.1_3'UTR			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	3750					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GAGAACAAGAAGAAGATCGAT	0.488																																					p.K1683R		Atlas-SNP	.											.	MACF1	909	.	0			c.A5048G						.						93.0	80.0	85.0					1																	39818713		2203	4300	6503	SO:0001583	missense	23499	exon40			ACAAGAAGAAGAT	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.11249A>G	chr1.hg19:g.39818713A>G	ENSP00000362006:p.Lys3750Arg	128.0	0.0		80.0	4.0	NM_012090	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	hg19		.	.	.	.	.	.	.	.	.	.	A	1.898	-0.453738	0.04540	.	.	ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000530262;ENST00000289893	T;T;T;T;T;D;T	0.87029	0.11;0.18;0.11;0.08;0.27;-2.2;1.28	5.53	1.54	0.23209	.	0.728003	0.13496	N	0.383654	T	0.62877	0.2464	N	0.00926	-1.1	0.58432	D	0.999999	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.12156	0.002;0.007;0.002;0.002	T	0.46317	-0.9200	10	0.12430	T	0.62	.	8.6482	0.34018	0.5543:0.0:0.4457:0.0	.	3750;1683;1683;1648	Q9UPN3;F8W8Q1;Q9UPN3-2;Q9UPN3-3	MACF1_HUMAN;.;.;.	R	1683;3750;1683;1683;1683;1832;2185	ENSP00000439537:K1683R;ENSP00000362006:K3750R;ENSP00000354573:K1683R;ENSP00000313438:K1683R;ENSP00000444364:K1683R;ENSP00000437059:K1832R;ENSP00000289893:K2185R	ENSP00000289893:K2185R	K	+	2	0	MACF1	39591300	0.011000	0.17503	0.883000	0.34634	0.527000	0.34593	-0.086000	0.11233	0.025000	0.15241	-0.375000	0.07067	AAG	.	.		0.488	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044	
PPIE	10450	hgsc.bcm.edu	37	1	40218656	40218656	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr1:40218656T>C	ENST00000324379.5	+	9	788	c.769T>C	c.(769-771)Tgg>Cgg	p.W257R	PPIE_ENST00000372830.1_Missense_Mutation_p.W257R|PPIE_ENST00000470213.1_3'UTR|PPIE_ENST00000356511.2_Missense_Mutation_p.W257R	NM_006112.3	NP_006103.1	Q9UNP9	PPIE_HUMAN	peptidylprolyl isomerase E (cyclophilin E)	257	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				mRNA splicing, via spliceosome (GO:0000398)|positive regulation of viral genome replication (GO:0045070)|protein folding (GO:0006457)|regulation of transcription, DNA-templated (GO:0006355)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	cyclosporin A binding (GO:0016018)|nucleotide binding (GO:0000166)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			kidney(3)|large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	9	all_cancers(7;1.63e-13)|all_lung(5;2.27e-16)|all_epithelial(6;1.35e-15)|Lung NSC(20;1.49e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;2.7e-17)|all cancers(16;5.5e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CAAGACAGACTGGCTGGATGG	0.532																																					p.W257R		Atlas-SNP	.											.	PPIE	33	.	0			c.T769C						.						163.0	138.0	147.0					1																	40218656		2203	4300	6503	SO:0001583	missense	10450	exon9			ACAGACTGGCTGG	AF042385	CCDS442.1, CCDS443.1, CCDS53299.1	1p32	2013-02-12			ENSG00000084072	ENSG00000084072		"""RNA binding motif (RRM) containing"""	9258	protein-coding gene	gene with protein product	"""peptidyl-prolyl cis-trans isomerase E"", ""cyclophilin 33"", ""cyclophilin E"", ""PPIase E"", ""rotamase E"", ""peptidylprolyl isomerase E, isoform 1"""	602435				9747881	Standard	NM_203456		Approved	CyP-33, MGC3736, MGC111222	uc001cdw.3	Q9UNP9	OTTHUMG00000009248	ENST00000324379.5:c.769T>C	chr1.hg19:g.40218656T>C	ENSP00000312769:p.Trp257Arg	153.0	0.0		99.0	5.0	NM_006112	B2R971|O43634|O43635|Q32Q72|Q3S611|Q5TGA0|Q5TGA2|Q5TGA3|Q9UIZ5	Missense_Mutation	SNP	ENST00000324379.5	hg19	CCDS443.1	.	.	.	.	.	.	.	.	.	.	T	24.4	4.528578	0.85706	.	.	ENSG00000084072	ENST00000324379;ENST00000356511;ENST00000497370;ENST00000372835;ENST00000372830	T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;1.23	5.57	5.57	0.84162	Peptidyl-prolyl cis-trans isomerase, cyclophilin-type (4);Cyclophilin-like (1);	0.000000	0.85682	D	0.000000	T	0.73521	0.3597	M	0.93898	3.47	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.997;1.0;0.999;0.997	T	0.81437	-0.0933	10	0.87932	D	0	-9.1456	15.6874	0.77421	0.0:0.0:0.0:1.0	.	178;257;257;257	B4E3F2;Q5TGA3;Q9UNP9-2;Q9UNP9	.;.;.;PPIE_HUMAN	R	257;257;191;206;257	ENSP00000312769:W257R;ENSP00000348904:W257R;ENSP00000433475:W191R;ENSP00000361925:W206R;ENSP00000361918:W257R	ENSP00000312769:W257R	W	+	1	0	PPIE	39991243	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	5.022000	0.64078	2.243000	0.73865	0.533000	0.62120	TGG	.	.		0.532	PPIE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025642.2	NM_006112	
RLF	6018	hgsc.bcm.edu	37	1	40705226	40705226	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr1:40705226T>C	ENST00000372771.4	+	8	4879	c.4852T>C	c.(4852-4854)Tgt>Cgt	p.C1618R		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	1618					chromosome organization (GO:0051276)|DNA integration (GO:0015074)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			AAATAGAAGCTGTGAATCAGA	0.458																																					p.C1618R		Atlas-SNP	.											.	RLF	152	.	0			c.T4852C						.						51.0	52.0	51.0					1																	40705226		2203	4300	6503	SO:0001583	missense	6018	exon8			AGAAGCTGTGAAT		CCDS448.1	1p32	2010-05-07	2005-08-16		ENSG00000117000	ENSG00000117000		"""Zinc fingers, C2H2-type"""	10025	protein-coding gene	gene with protein product		180610	"""rearranged L-myc fusion sequence"""			1649386	Standard	NM_012421		Approved	ZNF292L, Zn-15L	uc001cfc.4	Q13129	OTTHUMG00000005763	ENST00000372771.4:c.4852T>C	chr1.hg19:g.40705226T>C	ENSP00000361857:p.Cys1618Arg	233.0	0.0		146.0	6.0	NM_012421	Q14CQ1|Q9NU60	Missense_Mutation	SNP	ENST00000372771.4	hg19	CCDS448.1	.	.	.	.	.	.	.	.	.	.	T	5.727	0.318627	0.10845	.	.	ENSG00000117000	ENST00000372771;ENST00000535839	T	0.14893	2.47	6.17	4.99	0.66335	.	0.370221	0.32301	N	0.006290	T	0.14700	0.0355	L	0.40543	1.245	0.54753	D	0.999984	B;B	0.15473	0.013;0.003	B;B	0.12156	0.007;0.002	T	0.03483	-1.1032	10	0.59425	D	0.04	-10.2534	9.2688	0.37659	0.2438:0.0:0.0:0.7562	.	1311;1618	F5H2M5;Q13129	.;RLF_HUMAN	R	1618;1311	ENSP00000361857:C1618R	ENSP00000361857:C1618R	C	+	1	0	RLF	40477813	0.976000	0.34144	1.000000	0.80357	0.502000	0.33828	0.696000	0.25541	2.371000	0.80710	0.533000	0.62120	TGT	.	.		0.458	RLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015767.1	NM_012421	
HIVEP3	59269	hgsc.bcm.edu	37	1	42046720	42046720	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr1:42046720A>G	ENST00000372583.1	-	4	4634	c.3749T>C	c.(3748-3750)cTc>cCc	p.L1250P	HIVEP3_ENST00000429157.2_Missense_Mutation_p.L1250P|HIVEP3_ENST00000372584.1_Missense_Mutation_p.L1250P|HIVEP3_ENST00000247584.5_Missense_Mutation_p.L1250P|HIVEP3_ENST00000460604.1_5'Flank	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1250					positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				ATCACCAGGGAGCTGAAGTGC	0.582																																					p.L1250P		Atlas-SNP	.											.	HIVEP3	235	.	0			c.T3749C						.						56.0	58.0	57.0					1																	42046720		2203	4300	6503	SO:0001583	missense	59269	exon4			CCAGGGAGCTGAA	AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"""Zinc fingers, C2H2-type"""	13561	protein-coding gene	gene with protein product	"""kappabinding protein-1"""	606649	"""human immunodeficiency virus type I enhancer-binding protein 3"""			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.3749T>C	chr1.hg19:g.42046720A>G	ENSP00000361664:p.Leu1250Pro	102.0	0.0		70.0	4.0	NM_024503	A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Missense_Mutation	SNP	ENST00000372583.1	hg19	CCDS463.1	.	.	.	.	.	.	.	.	.	.	A	10.27	1.304399	0.23736	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.07114	3.23;3.22;3.22;3.23	5.04	3.9	0.45041	.	0.154637	0.30602	N	0.009274	T	0.09905	0.0243	L	0.27053	0.805	0.53005	D	0.999966	D;D	0.59767	0.986;0.976	P;P	0.51135	0.66;0.459	T	0.18085	-1.0348	10	0.36615	T	0.2	-15.1113	10.93	0.47211	0.8593:0.0:0.0:0.1407	.	1250;1250	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	P	1250	ENSP00000361665:L1250P;ENSP00000361664:L1250P;ENSP00000247584:L1250P;ENSP00000410828:L1250P	ENSP00000247584:L1250P	L	-	2	0	HIVEP3	41819307	0.943000	0.32029	1.000000	0.80357	0.813000	0.45954	1.616000	0.36933	0.926000	0.37118	-0.468000	0.05107	CTC	.	.		0.582	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503	
FOXJ3	22887	hgsc.bcm.edu	37	1	42730811	42730811	+	Missense_Mutation	SNP	G	G	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr1:42730811G>C	ENST00000372572.1	-	6	730	c.419C>G	c.(418-420)cCt>cGt	p.P140R	FOXJ3_ENST00000372573.1_Missense_Mutation_p.P140R|FOXJ3_ENST00000361346.1_Missense_Mutation_p.P140R|FOXJ3_ENST00000361776.1_Missense_Mutation_p.P140R|FOXJ3_ENST00000545068.1_Missense_Mutation_p.P140R	NM_001198851.1	NP_001185780.1	Q9UPW0	FOXJ3_HUMAN	forkhead box J3	140					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CTTAGATCGAGGCACTTTAAG	0.333																																					p.P140R		Atlas-SNP	.											.	FOXJ3	59	.	0			c.C419G						.						142.0	146.0	145.0					1																	42730811		2203	4300	6503	SO:0001583	missense	22887	exon4			GATCGAGGCACTT	AB028964	CCDS30689.1, CCDS55594.1	1p34.2	2008-04-10			ENSG00000198815	ENSG00000198815		"""Forkhead boxes"""	29178	protein-coding gene	gene with protein product							Standard	NM_014947		Approved	KIAA1041	uc001chf.3	Q9UPW0	OTTHUMG00000007026	ENST00000372572.1:c.419C>G	chr1.hg19:g.42730811G>C	ENSP00000361653:p.Pro140Arg	85.0	0.0		80.0	4.0	NM_001198852	A7MBL7|A7MD18|D3DPW2|Q9NSS7	Missense_Mutation	SNP	ENST00000372572.1	hg19	CCDS30689.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.866291	0.91511	.	.	ENSG00000198815	ENST00000372573;ENST00000372572;ENST00000361346;ENST00000361776;ENST00000545068;ENST00000445886;ENST00000454417	D;D;D;D;D;D;D	0.95724	-3.79;-3.79;-3.79;-3.79;-3.79;-3.79;-3.79	5.65	5.65	0.86999	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.126578	0.51477	D	0.000085	D	0.97707	0.9248	M	0.81179	2.53	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.98283	1.0509	10	0.87932	D	0	.	17.2171	0.86947	0.0:0.0:1.0:0.0	.	140;140	Q9UPW0-2;Q9UPW0	.;FOXJ3_HUMAN	R	140;140;140;140;140;140;97	ENSP00000361654:P140R;ENSP00000361653:P140R;ENSP00000354620:P140R;ENSP00000354449:P140R;ENSP00000439044:P140R;ENSP00000393408:P140R;ENSP00000403060:P97R	ENSP00000354620:P140R	P	-	2	0	FOXJ3	42503398	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.238000	0.95380	2.653000	0.90120	0.563000	0.77884	CCT	.	.		0.333	FOXJ3-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000018310.1	NM_014947	
MPL	4352	hgsc.bcm.edu	37	1	43812146	43812146	+	Silent	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr1:43812146A>G	ENST00000372470.3	+	7	1053	c.1011A>G	c.(1009-1011)gaA>gaG	p.E337E	MPL_ENST00000413998.2_Silent_p.E337E	NM_005373.2	NP_005364.1	P40238	TPOR_HUMAN	MPL proto-oncogene, thrombopoietin receptor	337	Poly-Glu.				blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|homeostasis of number of cells (GO:0048872)|platelet activation (GO:0030168)|regulation of chemokine production (GO:0032642)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(551)|large_intestine(3)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	567	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			Eltrombopag(DB06210)|Romiplostim(DB05332)	GCGAAGAGGAAGAGAAAACAA	0.517			Mis		MPD	MPD	congenital amegakaryocytic thrombocytopenia																														p.E337E	NSCLC(52;534 1204 10016 41452 44427)	Atlas-SNP	.	yes	Dom	yes	Familial essential thrombocythemia	1	p34	4352	"""myeloproliferative leukemia virus oncogene, thrombopoietin receptor"""	yes	L	.	MPL	651	.	0			c.A1011G						.						75.0	74.0	74.0					1																	43812146		2203	4300	6503	SO:0001819	synonymous_variant	4352	exon7			AGAGGAAGAGAAA	M90102	CCDS483.1	1p34	2014-09-17	2014-06-26		ENSG00000117400	ENSG00000117400		"""CD molecules"", ""Fibronectin type III domain containing"""	7217	protein-coding gene	gene with protein product		159530	"""myeloproliferative leukemia virus oncogene"""			1608974	Standard	NM_005373		Approved	CD110, TPOR	uc001ciw.3	P40238	OTTHUMG00000007429	ENST00000372470.3:c.1011A>G	chr1.hg19:g.43812146A>G		156.0	0.0		103.0	5.0	NM_005373	Q5JUZ0	Silent	SNP	ENST00000372470.3	hg19	CCDS483.1																																																																																			.	.		0.517	MPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019522.1	NM_005373	
ERI3	79033	hgsc.bcm.edu	37	1	44818544	44818544	+	Silent	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr1:44818544A>G	ENST00000372257.2	-	2	370	c.189T>C	c.(187-189)ctT>ctC	p.L63L	ERI3_ENST00000495828.1_Intron|ERI3_ENST00000537474.1_5'UTR	NM_024066.1	NP_076971.1	O43414	ERI3_HUMAN	ERI1 exoribonuclease family member 3	63							exonuclease activity (GO:0004527)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(2)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CGAAGATGCCAAGACCGGCAG	0.493																																					p.L63L		Atlas-SNP	.											.	ERI3	39	.	0			c.T189C						.						137.0	147.0	144.0					1																	44818544		2203	4300	6503	SO:0001819	synonymous_variant	79033	exon2			GATGCCAAGACCG	AF007157	CCDS30696.1	1p34.1	2009-10-07	2009-10-07	2008-12-16	ENSG00000117419	ENSG00000117419		"""Enhanced RNAi three prime mRNA exonucleases"""	17276	protein-coding gene	gene with protein product	"""enhanced RNAi three prime mRNA exonuclease homolog 3 (C.elegans)"", ""exoribonuclease 3"""	609917	"""prion protein interacting protein"""	PRNPIP			Standard	XM_005271184		Approved	FLJ22943, PINT1	uc001clt.3	O43414	OTTHUMG00000007637	ENST00000372257.2:c.189T>C	chr1.hg19:g.44818544A>G		169.0	0.0		92.0	5.0	NM_024066	B1AK98|Q5T2T7|Q5T2T9|Q5TG35|Q9BQA0|Q9UEB4	Silent	SNP	ENST00000372257.2	hg19	CCDS30696.1																																																																																			.	.		0.493	ERI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020243.1	NM_024066	
PTCH2	8643	hgsc.bcm.edu	37	1	45294290	45294290	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr1:45294290T>C	ENST00000372192.3	-	12	1608	c.1478A>G	c.(1477-1479)gAg>gGg	p.E493G	PTCH2_ENST00000447098.2_Missense_Mutation_p.E493G	NM_003738.4	NP_003729.3	Q9Y6C5	PTC2_HUMAN	patched 2	493	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.		E -> K (in dbSNP:rs11573581). {ECO:0000269|Ref.5}.		epidermis development (GO:0008544)|hair cycle (GO:0042633)|negative regulation of smoothened signaling pathway (GO:0045879)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|smoothened binding (GO:0005119)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					CTGCAGACACTCGCCCATGCG	0.637									Basal Cell Nevus syndrome																												p.E493G		Atlas-SNP	.											.	PTCH2	96	.	0			c.A1478G						.						79.0	61.0	67.0					1																	45294290		2203	4300	6503	SO:0001583	missense	8643	exon12	Familial Cancer Database	Gorlin syndrome, Gorlin-Golz syndrome, Naevoid Basal Cell Carcinoma syndrome, NBCCS	AGACACTCGCCCA	AF091501	CCDS516.1, CCDS53312.1	1p34.1	2010-06-24	2010-06-24		ENSG00000117425	ENSG00000117425			9586	protein-coding gene	gene with protein product		603673	"""patched (Drosophila) homolog 2"", ""patched homolog 2 (Drosophila)"""			9811851, 9931336	Standard	NM_003738		Approved		uc010olf.2	Q9Y6C5	OTTHUMG00000008490	ENST00000372192.3:c.1478A>G	chr1.hg19:g.45294290T>C	ENSP00000361266:p.Glu493Gly	135.0	0.0		101.0	5.0	NM_001166292	O95341|O95856|Q53Z57|Q5QP87|Q6UX14	Missense_Mutation	SNP	ENST00000372192.3	hg19	CCDS516.1	.	.	.	.	.	.	.	.	.	.	T	14.32	2.501299	0.44455	.	.	ENSG00000117425	ENST00000447098;ENST00000372192	D;D	0.96300	-3.97;-3.97	4.47	2.0	0.26442	Sterol-sensing domain (1);	0.072962	0.51477	D	0.000083	D	0.94430	0.8208	M	0.72353	2.195	0.38903	D	0.957374	P;P	0.47191	0.647;0.891	B;B	0.43082	0.299;0.407	D	0.90891	0.4761	10	0.22706	T	0.39	-24.1087	10.7276	0.46077	0.0:0.0:0.3054:0.6946	.	493;493	Q9Y6C5-2;Q9Y6C5	.;PTC2_HUMAN	G	493	ENSP00000389703:E493G;ENSP00000361266:E493G	ENSP00000361266:E493G	E	-	2	0	PTCH2	45066877	1.000000	0.71417	0.912000	0.35992	0.961000	0.63080	4.502000	0.60400	0.215000	0.20761	0.379000	0.24179	GAG	.	.		0.637	PTCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023428.4	NM_003738	
HECTD3	79654	hgsc.bcm.edu	37	1	45473144	45473144	+	Missense_Mutation	SNP	T	T	C	rs367668335		TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr1:45473144T>C	ENST00000372172.4	-	10	1515	c.1444A>G	c.(1444-1446)Atg>Gtg	p.M482V	HECTD3_ENST00000372168.3_Missense_Mutation_p.M92V|HECTD3_ENST00000486132.1_5'Flank	NM_024602.5	NP_078878.3	Q5T447	HECD3_HUMAN	HECT domain containing E3 ubiquitin protein ligase 3	482					proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|stomach(1)	28	Acute lymphoblastic leukemia(166;0.155)					CGGTGTTCCATGGCAAGACGG	0.612																																					p.M482V		Atlas-SNP	.											.	HECTD3	158	.	0			c.A1444G						.	T	VAL/MET	0,4218		0,0,2109	86.0	90.0	89.0		1444	5.9	1.0	1		89	1,8445		0,1,4222	no	missense	HECTD3	NM_024602.5	21	0,1,6331	CC,CT,TT		0.0118,0.0,0.0079	benign	482/862	45473144	1,12663	2109	4223	6332	SO:0001583	missense	79654	exon10			GTTCCATGGCAAG	BC019105	CCDS41318.1	1p34.1	2012-02-23	2012-02-23		ENSG00000126107	ENSG00000126107			26117	protein-coding gene	gene with protein product			"""HECT domain containing 3"""			12477932	Standard	NM_024602		Approved	FLJ21156	uc009vxk.3	Q5T447	OTTHUMG00000008587	ENST00000372172.4:c.1444A>G	chr1.hg19:g.45473144T>C	ENSP00000361245:p.Met482Val	163.0	0.0		119.0	5.0	NM_024602	B3KPV7|B3KRH4|Q5T448|Q9H783	Missense_Mutation	SNP	ENST00000372172.4	hg19	CCDS41318.1	.	.	.	.	.	.	.	.	.	.	T	9.557	1.117427	0.20877	0.0	1.18E-4	ENSG00000126107	ENST00000372172;ENST00000372168	T;T	0.59224	0.28;0.59	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.42921	0.1224	L	0.27053	0.805	0.52501	D	0.99995	B;B	0.11235	0.004;0.001	B;B	0.04013	0.001;0.001	T	0.31447	-0.9943	10	0.30078	T	0.28	.	10.5681	0.45184	0.0:0.0718:0.0:0.9282	.	482;92	Q5T447;Q5T447-2	HECD3_HUMAN;.	V	482;92	ENSP00000361245:M482V;ENSP00000361241:M92V	ENSP00000361241:M92V	M	-	1	0	HECTD3	45245731	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.714000	0.61902	2.232000	0.73038	0.533000	0.62120	ATG	.	.		0.612	HECTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023734.1	NM_024602	
MUTYH	4595	hgsc.bcm.edu	37	1	45800076	45800076	+	Silent	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr1:45800076A>G	ENST00000372098.3	-	2	277	c.144T>C	c.(142-144)ccT>ccC	p.P48P	MUTYH_ENST00000528332.2_Silent_p.P48P|MUTYH_ENST00000354383.6_Silent_p.P34P|MUTYH_ENST00000529984.1_Silent_p.P34P|MUTYH_ENST00000372115.3_Silent_p.P48P|MUTYH_ENST00000372104.1_Silent_p.P34P|MUTYH_ENST00000528013.2_Silent_p.P34P|MUTYH_ENST00000456914.2_Silent_p.P34P|MUTYH_ENST00000355498.2_Silent_p.P34P|MUTYH_ENST00000372100.5_Silent_p.P34P|MUTYH_ENST00000450313.1_Silent_p.P48P|MUTYH_ENST00000448481.1_Silent_p.P34P|MUTYH_ENST00000372110.3_Silent_p.P48P|MUTYH_ENST00000488731.2_Silent_p.P34P|MUTYH_ENST00000531105.1_Silent_p.P34P			Q9UIF7	MUTYH_HUMAN	mutY homolog	48					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depurination (GO:0045007)|DNA repair (GO:0006281)|mismatch repair (GO:0006298)	mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|hydrolase activity, acting on glycosyl bonds (GO:0016798)|metal ion binding (GO:0046872)|MutSalpha complex binding (GO:0032407)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					CACAGGCAGAAGGCTTGGCCT	0.542			Mis			colorectal		Base excision repair (BER), DNA glycosylases	MUTYH-associated polyposis																												p.P48P		Atlas-SNP	.	yes	Rec		Adenomatous polyposis coli	1	1p34.3-1p32.1	4595	mutY homolog (E. coli)		E	.	MUTYH	38	.	0			c.T144C						.						181.0	137.0	152.0					1																	45800076		2203	4300	6503	SO:0001819	synonymous_variant	4595	exon2	Familial Cancer Database	MAP, MYH-associated polyposis	GGCAGAAGGCTTG	U63329	CCDS520.1, CCDS41320.1, CCDS41321.1, CCDS41322.1, CCDS72776.1, CCDS72777.1	1p34.1	2014-09-17	2013-09-12		ENSG00000132781	ENSG00000132781			7527	protein-coding gene	gene with protein product		604933	"""mutY (E. coli) homolog"", ""mutY homolog (E. coli)"""			7823963, 10684930	Standard	NM_012222		Approved	MYH	uc009vxp.3	Q9UIF7	OTTHUMG00000007682	ENST00000372098.3:c.144T>C	chr1.hg19:g.45800076A>G		109.0	0.0		80.0	4.0	NM_012222	D3DPZ4|Q15830|Q9UBP2|Q9UBS7|Q9UIF4|Q9UIF5|Q9UIF6	Silent	SNP	ENST00000372098.3	hg19	CCDS520.1																																																																																			.	.		0.542	MUTYH-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000020529.1	NM_012222	
CC2D1B	200014	hgsc.bcm.edu	37	1	52825005	52825005	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr1:52825005T>C	ENST00000371586.2	-	10	1181	c.1043A>G	c.(1042-1044)cAg>cGg	p.Q348R	CC2D1B_ENST00000284376.3_Missense_Mutation_p.Q348R|CC2D1B_ENST00000438831.1_5'UTR|CC2D1B_ENST00000460261.1_5'UTR	NM_032449.2	NP_115825.1	Q5T0F9	C2D1B_HUMAN	coiled-coil and C2 domain containing 1B	348						nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(1)|large_intestine(6)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	27						TGTGGGAGCCTGAGAAGCCTG	0.667																																					p.Q348R		Atlas-SNP	.											.	CC2D1B	73	.	0			c.A1043G						.						32.0	31.0	32.0					1																	52825005		2203	4300	6503	SO:0001583	missense	200014	exon10			GGAGCCTGAGAAG	AB058739	CCDS30714.1	1p32.3	2008-02-05			ENSG00000154222	ENSG00000154222			29386	protein-coding gene	gene with protein product						11347906	Standard	NM_032449		Approved	KIAA1836	uc001ctq.2	Q5T0F9	OTTHUMG00000008102	ENST00000371586.2:c.1043A>G	chr1.hg19:g.52825005T>C	ENSP00000360642:p.Gln348Arg	157.0	0.0		92.0	4.0	NM_032449	Q49AE8|Q5T0F8|Q5T0G0|Q6ZNQ1|Q96AP3|Q96I04|Q96JJ1	Missense_Mutation	SNP	ENST00000371586.2	hg19	CCDS30714.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.064|0.064	-1.217401|-1.217401	0.01542|0.01542	.|.	.|.	ENSG00000154222|ENSG00000154222	ENST00000371586;ENST00000284376;ENST00000371573|ENST00000438021;ENST00000450942	T;T|.	0.24538|.	1.85;1.85|.	4.43|4.43	2.11|2.11	0.27256|0.27256	.|.	1.648800|.	0.03044|.	N|.	0.153675|.	T|T	0.23370|0.23370	0.0565|0.0565	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	0.999996|0.999996	B;B|.	0.09022|.	0.0;0.002|.	B;B|.	0.04013|.	0.0;0.001|.	T|T	0.20174|0.20174	-1.0283|-1.0283	10|5	0.17832|.	T|.	0.49|.	-1.5774|-1.5774	5.6345|5.6345	0.17528|0.17528	0.0:0.2183:0.0:0.7817|0.0:0.2183:0.0:0.7817	.|.	134;348|.	Q5T0G1;Q5T0F9|.	.;C2D1B_HUMAN|.	R|G	348;348;262|135;268	ENSP00000360642:Q348R;ENSP00000284376:Q348R|.	ENSP00000284376:Q348R|.	Q|R	-|-	2|1	0|2	CC2D1B|CC2D1B	52597593|52597593	0.001000|0.001000	0.12720|0.12720	0.005000|0.005000	0.12908|0.12908	0.032000|0.032000	0.12392|0.12392	0.800000|0.800000	0.27042|0.27042	0.824000|0.824000	0.34613|0.34613	0.529000|0.529000	0.55759|0.55759	CAG|AGG	.	.		0.667	CC2D1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000022189.1	NM_032449	
TCEANC2	127428	hgsc.bcm.edu	37	1	54520126	54520126	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr1:54520126A>G	ENST00000234827.1	+	2	231	c.31A>G	c.(31-33)Atc>Gtc	p.I11V	TCEANC2_ENST00000498272.1_3'UTR|TMEM59_ENST00000234831.5_5'Flank|MIR4781_ENST00000585250.1_RNA|TCEANC2_ENST00000371331.1_Missense_Mutation_p.I41V|TMEM59_ENST00000371337.3_5'Flank|TMEM59_ENST00000371341.1_5'Flank	NM_153035.1	NP_694580.1	Q96MN5	TEAN2_HUMAN	transcription elongation factor A (SII) N-terminal and central domain containing 2	11					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			kidney(1)|lung(3)|pancreas(1)	5						AACGCCTAGAATCCAGAATAG	0.473																																					p.I11V		Atlas-SNP	.											.	TCEANC2	17	.	0			c.A31G						.						78.0	69.0	72.0					1																	54520126		2203	4300	6503	SO:0001583	missense	127428	exon2			CCTAGAATCCAGA	AK056674	CCDS587.1	1p32.3	2011-01-25	2011-01-25	2011-01-25	ENSG00000116205	ENSG00000116205			26494	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 83"""	C1orf83		12477932	Standard	NM_153035		Approved	FLJ32112	uc001cwt.1	Q96MN5	OTTHUMG00000008434	ENST00000234827.1:c.31A>G	chr1.hg19:g.54520126A>G	ENSP00000234827:p.Ile11Val	138.0	0.0		112.0	5.0	NM_153035	Q5T702|Q8N8N2	Missense_Mutation	SNP	ENST00000234827.1	hg19	CCDS587.1	.	.	.	.	.	.	.	.	.	.	A	13.03	2.116077	0.37339	.	.	ENSG00000116205	ENST00000234827;ENST00000371331	.	.	.	5.9	-4.89	0.03103	.	1.473130	0.03538	N	0.223471	T	0.30665	0.0772	L	0.36672	1.1	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.27191	-1.0081	9	0.30078	T	0.28	-0.0081	8.667	0.34127	0.2301:0.403:0.3669:0.0	.	11	Q96MN5	TEAN2_HUMAN	V	11;41	.	ENSP00000234827:I11V	I	+	1	0	TCEANC2	54292714	0.221000	0.23642	0.816000	0.32577	0.946000	0.59487	0.463000	0.21972	-0.361000	0.08125	0.533000	0.62120	ATC	.	.		0.473	TCEANC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023245.1	NM_153035	
C8A	731	hgsc.bcm.edu	37	1	57378098	57378098	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr1:57378098T>C	ENST00000361249.3	+	10	1499	c.1403T>C	c.(1402-1404)cTg>cCg	p.L468P		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	468	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						CACGAGGTGCTGCGGCACACA	0.622																																					p.L468P		Atlas-SNP	.											.	C8A	103	.	0			c.T1403C						.						43.0	45.0	44.0					1																	57378098		2203	4299	6502	SO:0001583	missense	731	exon10			AGGTGCTGCGGCA	M16974	CCDS606.1	1p32.2	2014-09-17			ENSG00000157131	ENSG00000157131		"""Complement system"""	1352	protein-coding gene	gene with protein product		120950					Standard	NM_000562		Approved		uc001cyo.2	P07357	OTTHUMG00000008306	ENST00000361249.3:c.1403T>C	chr1.hg19:g.57378098T>C	ENSP00000354458:p.Leu468Pro	104.0	0.0		79.0	4.0	NM_000562	A2RUI4|A2RUI5|Q13668|Q9H130	Missense_Mutation	SNP	ENST00000361249.3	hg19	CCDS606.1	.	.	.	.	.	.	.	.	.	.	T	17.67	3.447784	0.63178	.	.	ENSG00000157131	ENST00000361249	D	0.86627	-2.15	5.55	5.55	0.83447	Membrane attack complex component/perforin (MACPF) domain (3);	0.147190	0.46442	D	0.000295	D	0.93552	0.7942	M	0.83118	2.625	0.43688	D	0.996131	D	0.89917	1.0	D	0.85130	0.997	D	0.94384	0.7607	10	0.87932	D	0	-5.9833	14.2624	0.66094	0.0:0.0:0.0:1.0	.	468	P07357	CO8A_HUMAN	P	468	ENSP00000354458:L468P	ENSP00000354458:L468P	L	+	2	0	C8A	57150686	0.523000	0.26274	0.038000	0.18304	0.069000	0.16628	5.494000	0.66905	2.110000	0.64415	0.533000	0.62120	CTG	.	.		0.622	C8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022890.1	NM_000562	
C1orf87	127795	hgsc.bcm.edu	37	1	60491090	60491090	+	Silent	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr1:60491090A>G	ENST00000371201.3	-	8	1217	c.1110T>C	c.(1108-1110)ggT>ggC	p.G370G	C1orf87_ENST00000450089.2_Silent_p.G141G	NM_152377.2	NP_689590.1	Q8N0U7	CA087_HUMAN	chromosome 1 open reading frame 87	370							calcium ion binding (GO:0005509)			breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						CATTTTGGTAACCCAAATCTT	0.363																																					p.G370G	NSCLC(75;811 1386 4923 13371 51772)	Atlas-SNP	.											.	C1orf87	55	.	0			c.T1110C						.						116.0	119.0	118.0					1																	60491090		2203	4300	6503	SO:0001819	synonymous_variant	127795	exon8			TTGGTAACCCAAA	AK124828	CCDS614.1	1p32.1	2014-04-03			ENSG00000162598	ENSG00000162598			28547	protein-coding gene	gene with protein product	"""carcinoma-related EF-hand protein"""					12477932	Standard	NM_152377		Approved	MGC34837, CREF	uc001czs.2	Q8N0U7	OTTHUMG00000008992	ENST00000371201.3:c.1110T>C	chr1.hg19:g.60491090A>G		156.0	0.0		92.0	5.0	NM_152377	Q6ZU07|Q8IVS0	Silent	SNP	ENST00000371201.3	hg19	CCDS614.1																																																																																			.	.		0.363	C1orf87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024943.1	NM_152377	
INADL	10207	hgsc.bcm.edu	37	1	62593719	62593719	+	Missense_Mutation	SNP	G	G	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr1:62593719G>T	ENST00000371158.2	+	40	5233	c.5119G>T	c.(5119-5121)Gcc>Tcc	p.A1707S	INADL_ENST00000472512.1_3'UTR	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	1707	PDZ 10. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|intracellular signal transduction (GO:0035556)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						CGTATTTATTGCCATGATTCA	0.463																																					p.A1707S		Atlas-SNP	.											.	INADL	179	.	0			c.G5119T						.						92.0	88.0	89.0					1																	62593719		1912	4126	6038	SO:0001583	missense	10207	exon40			TTTATTGCCATGA	AB044807	CCDS617.2	1p31	2008-02-05			ENSG00000132849	ENSG00000132849			28881	protein-coding gene	gene with protein product		603199				9280290, 11374908	Standard	NM_176877		Approved	Cipp, PATJ	uc001dab.3	Q8NI35	OTTHUMG00000008560	ENST00000371158.2:c.5119G>T	chr1.hg19:g.62593719G>T	ENSP00000360200:p.Ala1707Ser	194.0	0.0		95.0	4.0	NM_176877	O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Missense_Mutation	SNP	ENST00000371158.2	hg19	CCDS617.2	.	.	.	.	.	.	.	.	.	.	G	29.8	5.032895	0.93575	.	.	ENSG00000132849	ENST00000371158	T	0.23552	1.9	6.06	5.13	0.70059	PDZ/DHR/GLGF (4);	0.238623	0.32244	N	0.006364	T	0.27524	0.0676	N	0.10645	0.015	0.80722	D	1	P	0.50443	0.935	D	0.66196	0.942	T	0.10497	-1.0627	10	0.08837	T	0.75	.	16.5268	0.84333	0.0:0.0:0.8683:0.1317	.	1707	Q8NI35	INADL_HUMAN	S	1707	ENSP00000360200:A1707S	ENSP00000360200:A1707S	A	+	1	0	INADL	62366307	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.400000	0.97290	1.509000	0.48786	0.650000	0.86243	GCC	.	.		0.463	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023639.2	NM_170605	
JAK1	3716	hgsc.bcm.edu	37	1	65310560	65310560	+	Missense_Mutation	SNP	G	G	T	rs377757935		TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr1:65310560G>T	ENST00000342505.4	-	16	2376	c.2128C>A	c.(2128-2130)Ctg>Atg	p.L710M	JAK1_ENST00000465376.1_5'UTR	NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	710	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-2-mediated signaling pathway (GO:0038110)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to antibiotic (GO:0046677)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	CCATGGACCAGGTCTTTATCC	0.527			Mis		ALL																																p.L710M		Atlas-SNP	.		Dom	yes		1	1p32.3-p31.3	3716	Janus kinase 1		L	.	JAK1	209	.	0			c.C2128A						.						86.0	96.0	93.0					1																	65310560		1997	4163	6160	SO:0001583	missense	3716	exon16			GGACCAGGTCTTT	M64174	CCDS41346.1	1p32.3-p31.3	2009-07-10	2009-04-23		ENSG00000162434	ENSG00000162434	2.7.10.1		6190	protein-coding gene	gene with protein product		147795		JAK1B		1848670, 7698020	Standard	NM_002227		Approved	JAK1A, JTK3	uc001dbu.1	P23458	OTTHUMG00000009310	ENST00000342505.4:c.2128C>A	chr1.hg19:g.65310560G>T	ENSP00000343204:p.Leu710Met	197.0	0.0		122.0	5.0	NM_002227	Q59GQ2|Q9UD26	Missense_Mutation	SNP	ENST00000342505.4	hg19	CCDS41346.1	.	.	.	.	.	.	.	.	.	.	G	16.73	3.204452	0.58234	.	.	ENSG00000162434	ENST00000342505	T	0.35973	1.28	5.0	-0.437	0.12272	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.27697	0.0681	M	0.81341	2.54	0.36515	D	0.869802	D	0.53745	0.962	P	0.49451	0.611	T	0.14868	-1.0457	9	0.59425	D	0.04	-4.311	3.8788	0.09069	0.5391:0.0:0.2816:0.1793	.	710	P23458	JAK1_HUMAN	M	710	ENSP00000343204:L710M	ENSP00000343204:L710M	L	-	1	2	JAK1	65083148	1.000000	0.71417	0.998000	0.56505	0.810000	0.45777	1.569000	0.36428	0.043000	0.15746	-0.244000	0.11960	CTG	.	.		0.527	JAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025791.1	NM_002227	
LRRC7	57554	hgsc.bcm.edu	37	1	70460299	70460299	+	Silent	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr1:70460299A>G	ENST00000035383.5	+	9	903	c.873A>G	c.(871-873)ctA>ctG	p.L291L	LRRC7_ENST00000310961.5_Silent_p.L296L|LRRC7_ENST00000415775.2_5'UTR	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	291						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TTACAATGCTACCCAATACAA	0.323																																					p.L291L		Atlas-SNP	.											.	LRRC7	400	.	0			c.A873G						.						107.0	111.0	110.0					1																	70460299		2203	4300	6503	SO:0001819	synonymous_variant	57554	exon9			AATGCTACCCAAT		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.873A>G	chr1.hg19:g.70460299A>G		109.0	0.0		70.0	4.0	NM_020794	Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Silent	SNP	ENST00000035383.5	hg19	CCDS645.1																																																																																			.	.		0.323	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794	
LRRC7	57554	hgsc.bcm.edu	37	1	70505146	70505146	+	Silent	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr1:70505146A>G	ENST00000035383.5	+	19	3555	c.3525A>G	c.(3523-3525)gaA>gaG	p.E1175E	LRRC7_ENST00000310961.5_Silent_p.E1180E|LRRC7_ENST00000415775.2_Silent_p.E459E	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1175						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						ATGAAGATGAACACCCTTCAT	0.502																																					p.E1175E		Atlas-SNP	.											.	LRRC7	400	.	0			c.A3525G						.						61.0	61.0	61.0					1																	70505146		2203	4300	6503	SO:0001819	synonymous_variant	57554	exon19			AGATGAACACCCT		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.3525A>G	chr1.hg19:g.70505146A>G		98.0	0.0		93.0	4.0	NM_020794	Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Silent	SNP	ENST00000035383.5	hg19	CCDS645.1																																																																																			.	.		0.502	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794	
LHX8	431707	hgsc.bcm.edu	37	1	75602350	75602350	+	Silent	SNP	C	C	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr1:75602350C>T	ENST00000294638.5	+	3	745	c.81C>T	c.(79-81)cgC>cgT	p.R27R	LHX8_ENST00000356261.3_Silent_p.R17R	NM_001001933.1	NP_001001933.1	Q68G74	LHX8_HUMAN	LIM homeobox 8	27					female gonad development (GO:0008585)|forebrain neuron development (GO:0021884)|learning or memory (GO:0007611)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	female germ cell nucleus (GO:0001674)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						GGAGGACTCGCAAAGGCGCCG	0.682																																					p.R27R		Atlas-SNP	.											.	LHX8	73	.	0			c.C81T						.						18.0	21.0	20.0					1																	75602350		1785	3340	5125	SO:0001819	synonymous_variant	431707	exon3			GACTCGCAAAGGC	AB050476	CCDS30756.1, CCDS58008.1	1p31.1	2011-06-20			ENSG00000162624	ENSG00000162624		"""Homeoboxes / LIM class"""	28838	protein-coding gene	gene with protein product		604425				9598319	Standard	NM_001256114		Approved	Lhx7	uc031pmx.1	Q68G74	OTTHUMG00000009692	ENST00000294638.5:c.81C>T	chr1.hg19:g.75602350C>T		163.0	0.0		93.0	20.0	NM_001001933	E9PGE3	Silent	SNP	ENST00000294638.5	hg19	CCDS30756.1																																																																																			.	.		0.682	LHX8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026700.1	NM_001001933	
FUBP1	8880	hgsc.bcm.edu	37	1	78432758	78432758	+	Silent	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr1:78432758T>C	ENST00000370768.2	-	5	399	c.318A>G	c.(316-318)aaA>aaG	p.K106K	FUBP1_ENST00000436586.2_Silent_p.K127K|FUBP1_ENST00000370767.1_Silent_p.K106K	NM_003902.3	NP_003893.2	Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	106	KH 1. {ECO:0000255|PROSITE- ProRule:PRU00117}.				positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						CATCTGGAACTTTGTATTCTT	0.269			"""F, N"""		oligodendroglioma																																p.K106K		Atlas-SNP	.		Rec	yes		1	1p13.1	8880	far upstream element (FUSE) binding protein 1		O	.	FUBP1	112	.	0			c.A318G						.						43.0	45.0	44.0					1																	78432758		2201	4293	6494	SO:0001819	synonymous_variant	8880	exon5			TGGAACTTTGTAT	U05040	CCDS683.1	1p31.1	2008-02-05			ENSG00000162613	ENSG00000162613			4004	protein-coding gene	gene with protein product		603444		FUBP		8125259	Standard	XM_005271309		Approved	FBP	uc001dii.3	Q96AE4	OTTHUMG00000040799	ENST00000370768.2:c.318A>G	chr1.hg19:g.78432758T>C		140.0	0.0		77.0	4.0	NM_003902	Q12828	Silent	SNP	ENST00000370768.2	hg19	CCDS683.1																																																																																			.	.		0.269	FUBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098030.3	NM_003902	
MCOLN2	255231	hgsc.bcm.edu	37	1	85431253	85431253	+	Missense_Mutation	SNP	C	C	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr1:85431253C>G	ENST00000370608.3	-	2	283	c.216G>C	c.(214-216)aaG>aaC	p.K72N	MCOLN2_ENST00000284027.5_Missense_Mutation_p.K44N|MCOLN2_ENST00000531325.1_5'UTR	NM_153259.2	NP_694991.2	Q8IZK6	MCLN2_HUMAN	mucolipin 2	72					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	18				all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217)		CCATGACTATCTTCAAAATCT	0.398																																					p.K72N		Atlas-SNP	.											.	MCOLN2	60	.	0			c.G216C						.						114.0	113.0	113.0					1																	85431253		2203	4300	6503	SO:0001583	missense	255231	exon2			GACTATCTTCAAA	AK094010	CCDS30762.1	1p22	2011-12-16			ENSG00000153898	ENSG00000153898		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	13357	protein-coding gene	gene with protein product		607399				16382100	Standard	XM_005270719		Approved	TRPML2, FLJ36691, TRP-ML2	uc001dkm.3	Q8IZK6	OTTHUMG00000009954	ENST00000370608.3:c.216G>C	chr1.hg19:g.85431253C>G	ENSP00000359640:p.Lys72Asn	186.0	0.0		127.0	23.0	NM_153259	A6NI99|Q2M3I6|Q5TAG5|Q8N9R3	Missense_Mutation	SNP	ENST00000370608.3	hg19	CCDS30762.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.166249	0.78339	.	.	ENSG00000153898	ENST00000370608;ENST00000284027	T;T	0.58358	0.34;0.34	5.87	4.96	0.65561	.	0.000000	0.85682	D	0.000000	T	0.69628	0.3132	M	0.86097	2.795	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	T	0.77169	-0.2686	10	0.87932	D	0	-16.8897	15.0754	0.72074	0.0:0.9322:0.0:0.0678	.	72	Q8IZK6	MCLN2_HUMAN	N	72;44	ENSP00000359640:K72N;ENSP00000284027:K44N	ENSP00000284027:K44N	K	-	3	2	MCOLN2	85203841	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.160000	0.42348	1.620000	0.50308	0.655000	0.94253	AAG	.	.		0.398	MCOLN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000027567.2	NM_153259	
BARHL2	343472	hgsc.bcm.edu	37	1	91182635	91182635	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr1:91182635T>C	ENST00000370445.4	-	1	159	c.118A>G	c.(118-120)Acc>Gcc	p.T40A		NM_020063.1	NP_064447.1	Q9NY43	BARH2_HUMAN	BarH-like homeobox 2	40					cell fate determination (GO:0001709)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|positive regulation of translation (GO:0045727)|regulation of axon extension (GO:0030516)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			cervix(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_lung(203;0.0263)|Lung SC(238;0.128)		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)		AAATCCGCGGTCCTGGCCTCA	0.577																																					p.T40A	GBM(199;3561 4100 22440)	Atlas-SNP	.											.	BARHL2	62	.	0			c.A118G						.						91.0	100.0	97.0					1																	91182635		2203	4300	6503	SO:0001583	missense	343472	exon1			CCGCGGTCCTGGC	AJ251753	CCDS730.1	1p22.2	2011-07-08	2007-07-09		ENSG00000143032	ENSG00000143032		"""Homeoboxes / ANTP class : NKL subclass"""	954	protein-coding gene	gene with protein product		605212	"""BarH (Drosophila)-like 2"""				Standard	NM_020063		Approved		uc001dns.3	Q9NY43	OTTHUMG00000010020	ENST00000370445.4:c.118A>G	chr1.hg19:g.91182635T>C	ENSP00000359474:p.Thr40Ala	129.0	0.0		98.0	5.0	NM_020063	A0AVP2|Q7Z4N7	Missense_Mutation	SNP	ENST00000370445.4	hg19	CCDS730.1	.	.	.	.	.	.	.	.	.	.	T	17.62	3.433875	0.62955	.	.	ENSG00000143032	ENST00000370445	D	0.90844	-2.74	5.82	5.82	0.92795	.	0.162260	0.53938	D	0.000052	T	0.64702	0.2622	N	0.08118	0	0.39524	D	0.968553	B	0.02656	0.0	B	0.01281	0.0	T	0.62891	-0.6758	10	0.11794	T	0.64	.	8.6418	0.33981	0.0:0.0846:0.0:0.9154	.	40	Q9NY43	BARH2_HUMAN	A	40	ENSP00000359474:T40A	ENSP00000359474:T40A	T	-	1	0	BARHL2	90955223	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.986000	0.49370	2.222000	0.72286	0.528000	0.53228	ACC	.	.		0.577	BARHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027728.2		
RPAP2	79871	hgsc.bcm.edu	37	1	92789692	92789692	+	Silent	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr1:92789692A>G	ENST00000610020.1	+	8	1324	c.1215A>G	c.(1213-1215)gaA>gaG	p.E405E		NM_024813.2	NP_079089.2	Q8IXW5	RPAP2_HUMAN	RNA polymerase II associated protein 2	405					dephosphorylation of RNA polymerase II C-terminal domain (GO:0070940)|snRNA transcription (GO:0009301)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nucleolus (GO:0005730)|nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	22		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)		TGGTTAAAGAAGAACTTGATG	0.423																																					p.E405E		Atlas-SNP	.											.	RPAP2	48	.	0			c.A1215G						.						86.0	88.0	87.0					1																	92789692		2203	4300	6503	SO:0001819	synonymous_variant	79871	exon8			TAAAGAAGAACTT	AK023212	CCDS740.1	1p22.1	2014-01-28	2007-07-26	2007-07-26	ENSG00000122484	ENSG00000122484			25791	protein-coding gene	gene with protein product		611476	"""chromosome 1 open reading frame 82"""	C1orf82		17643375	Standard	NM_024813		Approved	FLJ13150	uc001dot.2	Q8IXW5	OTTHUMG00000010288	ENST00000610020.1:c.1215A>G	chr1.hg19:g.92789692A>G		151.0	0.0		98.0	4.0	NM_024813	C9JKB5|Q49AS7|Q9H8Y2	Silent	SNP	ENST00000610020.1	hg19	CCDS740.1																																																																																			.	.		0.423	RPAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028368.2	NM_024813	
RPAP2	79871	hgsc.bcm.edu	37	1	92789911	92789911	+	Silent	SNP	C	C	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr1:92789911C>T	ENST00000610020.1	+	8	1543	c.1434C>T	c.(1432-1434)acC>acT	p.T478T		NM_024813.2	NP_079089.2	Q8IXW5	RPAP2_HUMAN	RNA polymerase II associated protein 2	478					dephosphorylation of RNA polymerase II C-terminal domain (GO:0070940)|snRNA transcription (GO:0009301)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nucleolus (GO:0005730)|nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	22		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)		AAGAAACCACCAAATCACAAG	0.398																																					p.T478T		Atlas-SNP	.											.	RPAP2	48	.	0			c.C1434T						.						44.0	45.0	45.0					1																	92789911		2099	4259	6358	SO:0001819	synonymous_variant	79871	exon8			AACCACCAAATCA	AK023212	CCDS740.1	1p22.1	2014-01-28	2007-07-26	2007-07-26	ENSG00000122484	ENSG00000122484			25791	protein-coding gene	gene with protein product		611476	"""chromosome 1 open reading frame 82"""	C1orf82		17643375	Standard	NM_024813		Approved	FLJ13150	uc001dot.2	Q8IXW5	OTTHUMG00000010288	ENST00000610020.1:c.1434C>T	chr1.hg19:g.92789911C>T		136.0	0.0		89.0	4.0	NM_024813	C9JKB5|Q49AS7|Q9H8Y2	Silent	SNP	ENST00000610020.1	hg19	CCDS740.1																																																																																			.	.		0.398	RPAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028368.2	NM_024813	
FAM69A	388650	hgsc.bcm.edu	37	1	93309606	93309606	+	Silent	SNP	C	C	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr1:93309606C>T	ENST00000370310.4	-	5	691	c.621G>A	c.(619-621)gtG>gtA	p.V207V	SNORA51_ENST00000384295.1_RNA	NM_001006605.4|NM_001252269.1|NM_001252271.1	NP_001006606.2|NP_001239198.1|NP_001239200.1	Q5T7M9	FA69A_HUMAN	family with sequence similarity 69, member A	207						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)	4		all_lung(203;0.00265)|Lung NSC(277;0.00562)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)		GBM - Glioblastoma multiforme(16;0.000563)|all cancers(265;0.000751)|Epithelial(280;0.127)		CTTGAAGTATCACCATGAGAA	0.428																																					p.V207V		Atlas-SNP	.											.	FAM69A	30	.	0			c.G621A						.						73.0	59.0	63.0					1																	93309606		692	1591	2283	SO:0001819	synonymous_variant	388650	exon5			AAGTATCACCATG	AK027146	CCDS44173.1, CCDS72822.1, CCDS72823.1, CCDS72824.1, CCDS72825.1	1p22	2014-06-25			ENSG00000154511	ENSG00000154511			32213	protein-coding gene	gene with protein product		614542				21334309	Standard	NM_001006605		Approved	FLJ23493	uc001dpg.3	Q5T7M9	OTTHUMG00000010894	ENST00000370310.4:c.621G>A	chr1.hg19:g.93309606C>T		165.0	0.0		97.0	4.0	NM_001006605	Q6IRV2	Silent	SNP	ENST00000370310.4	hg19	CCDS44173.1																																																																																			.	.		0.428	FAM69A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030046.2	NM_001006605	
DNTTIP2	30836	hgsc.bcm.edu	37	1	94342288	94342288	+	Silent	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr1:94342288T>C	ENST00000436063.2	-	2	1260	c.1203A>G	c.(1201-1203)gaA>gaG	p.E401E	DNTTIP2_ENST00000460191.1_5'UTR	NM_014597.4	NP_055412.2	Q5QJE6	TDIF2_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 2	401					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	38		all_lung(203;0.0111)|Lung NSC(277;0.0347)		all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128)		CTGTGGACTCTTCTTCATCAT	0.413																																					p.E401E		Atlas-SNP	.											.	DNTTIP2	59	.	0			c.A1203G						.						280.0	268.0	272.0					1																	94342288		1968	4144	6112	SO:0001819	synonymous_variant	30836	exon2			GGACTCTTCTTCA	AY394925	CCDS44174.1	1p22.1	2008-02-05			ENSG00000067334	ENSG00000067334			24013	protein-coding gene	gene with protein product	"""acidic 82 kDa protein mRNA"""	611199				15047147	Standard	NM_014597		Approved	HSU15552, ERBP, TdIF2	uc001dqf.3	Q5QJE6	OTTHUMG00000010268	ENST00000436063.2:c.1203A>G	chr1.hg19:g.94342288T>C		851.0	0.0		547.0	135.0	NM_014597	Q12987|Q53H59|Q5TFJ4|Q6TLI0|Q76MJ8|Q86WX9	Silent	SNP	ENST00000436063.2	hg19	CCDS44174.1																																																																																			.	.		0.413	DNTTIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028317.2	NM_014597	
ABCA4	24	hgsc.bcm.edu	37	1	94520726	94520726	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr1:94520726A>G	ENST00000370225.3	-	16	2614	c.2528T>C	c.(2527-2529)aTg>aCg	p.M843T	ABCA4_ENST00000535735.1_Missense_Mutation_p.M769T	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	843					phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		ATCAAGGAGCATCATCTGCAT	0.512																																					p.M843T		Atlas-SNP	.											.	ABCA4	275	.	0			c.T2528C						.						192.0	141.0	158.0					1																	94520726		2203	4300	6503	SO:0001583	missense	24	exon16			AGGAGCATCATCT	U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"""ATP binding cassette transporters / subfamily A"""	34	protein-coding gene	gene with protein product	"""Stargardt disease"""	601691	"""ATP-binding cassette transporter, retinal-specific"""	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.2528T>C	chr1.hg19:g.94520726A>G	ENSP00000359245:p.Met843Thr	138.0	0.0		102.0	5.0	NM_000350	O15112|O60438|O60915|Q0QD48|Q4LE31	Missense_Mutation	SNP	ENST00000370225.3	hg19	CCDS747.1	.	.	.	.	.	.	.	.	.	.	A	19.54	3.847014	0.71603	.	.	ENSG00000198691	ENST00000370225;ENST00000535735	D;D	0.88431	-2.38;-2.35	5.41	5.41	0.78517	.	0.079791	0.85682	D	0.000000	D	0.90590	0.7050	M	0.89414	3.03	0.50039	D	0.999849	P;B	0.50272	0.933;0.206	P;B	0.47346	0.544;0.18	D	0.92555	0.6053	10	0.87932	D	0	.	15.1039	0.72306	1.0:0.0:0.0:0.0	.	769;843	F5H6E5;P78363	.;ABCA4_HUMAN	T	843;769	ENSP00000359245:M843T;ENSP00000437682:M769T	ENSP00000359245:M843T	M	-	2	0	ABCA4	94293314	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	9.339000	0.96797	2.067000	0.61834	0.454000	0.30748	ATG	.	.		0.512	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350	
EXTL2	2135	hgsc.bcm.edu	37	1	101339876	101339876	+	Silent	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr1:101339876A>G	ENST00000370114.3	-	5	2051	c.615T>C	c.(613-615)ggT>ggC	p.G205G	EXTL2_ENST00000535414.1_Silent_p.G192G|EXTL2_ENST00000370113.3_Silent_p.G205G	NM_001033025.2|NM_001261440.1	NP_001028197.1|NP_001248369.1	Q9UBQ6	EXTL2_HUMAN	exostosin-like glycosyltransferase 2	205					heparan sulfate proteoglycan biosynthetic process (GO:0015012)|N-acetylglucosamine metabolic process (GO:0006044)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	alpha-1,4-N-acetylgalactosaminyltransferase activity (GO:0035248)|glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0001888)|metal ion binding (GO:0046872)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	14		all_epithelial(167;2.48e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)		Epithelial(280;0.0425)|all cancers(265;0.0628)|COAD - Colon adenocarcinoma(174;0.148)|Colorectal(144;0.167)|Lung(183;0.195)		AGTACTGGTCACCATTTCCAG	0.408																																					p.G213G		Atlas-SNP	.											.	EXTL2	57	.	0			c.T639C						.						49.0	47.0	48.0					1																	101339876		2203	4299	6502	SO:0001819	synonymous_variant	2135	exon6			CTGGTCACCATTT	U76189	CCDS775.1, CCDS72831.1	1p21	2013-03-01	2013-03-01		ENSG00000162694	ENSG00000162694	2.4.1.223	"""Exostosin glycosyltransferase family"""	3516	protein-coding gene	gene with protein product	"""alpha-1,4-N-acteylhexosaminyltransferase"""	602411	"""exostoses (multiple)-like 2"""			9450183, 15831490	Standard	NM_001439		Approved		uc001dtk.2	Q9UBQ6	OTTHUMG00000011814	ENST00000370114.3:c.615T>C	chr1.hg19:g.101339876A>G		164.0	0.0		125.0	5.0	NM_001261441	B2R795|D3DT60	Silent	SNP	ENST00000370114.3	hg19	CCDS775.1																																																																																			.	.		0.408	EXTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032705.1	NM_001439	
SLC30A7	148867	hgsc.bcm.edu	37	1	101379339	101379339	+	Missense_Mutation	SNP	G	G	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr1:101379339G>T	ENST00000370112.4	+	6	819	c.632G>T	c.(631-633)gGa>gTa	p.G211V	SLC30A7_ENST00000357650.4_Missense_Mutation_p.G211V	NM_001144884.1|NM_133496.4	NP_001138356.1|NP_598003.2	Q8NEW0	ZNT7_HUMAN	solute carrier family 30 (zinc transporter), member 7	211	His-rich loop.				cellular protein metabolic process (GO:0044267)|sequestering of zinc ion (GO:0032119)|transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|vesicle (GO:0031982)	cation transmembrane transporter activity (GO:0008324)			endometrium(3)|large_intestine(2)|lung(10)	15		all_epithelial(167;0.000445)|all_lung(203;0.00645)|Lung NSC(277;0.0119)		Epithelial(280;0.0437)|all cancers(265;0.0498)|COAD - Colon adenocarcinoma(174;0.162)|Colorectal(144;0.19)|Lung(183;0.201)		CATGCTCATGGACATGGACAC	0.428																																					p.G211V	NSCLC(91;473 1491 3102 16827 21633)	Atlas-SNP	.											.	SLC30A7	33	.	0			c.G632T						.						156.0	125.0	135.0					1																	101379339		2203	4300	6503	SO:0001583	missense	148867	exon6			CTCATGGACATGG	AF233345	CCDS776.1	1p21.1	2013-05-22			ENSG00000162695	ENSG00000162695		"""Solute carriers"""	19306	protein-coding gene	gene with protein product		611149				12446736	Standard	NM_133496		Approved	ZnTL2, ZNT7	uc001dto.2	Q8NEW0	OTTHUMG00000011815	ENST00000370112.4:c.632G>T	chr1.hg19:g.101379339G>T	ENSP00000359130:p.Gly211Val	123.0	0.0		84.0	4.0	NM_133496	B2R949|D3DT61|Q8TCH2	Missense_Mutation	SNP	ENST00000370112.4	hg19	CCDS776.1	.	.	.	.	.	.	.	.	.	.	G	15.94	2.981306	0.53827	.	.	ENSG00000162695	ENST00000370112;ENST00000357650	T;T	0.66460	-0.21;-0.21	5.53	4.62	0.57501	.	0.208589	0.49916	D	0.000123	T	0.61022	0.2314	M	0.70595	2.14	0.80722	D	1	P	0.46784	0.884	P	0.47528	0.549	T	0.63056	-0.6722	10	0.35671	T	0.21	-0.7518	14.0985	0.65039	0.0724:0.0:0.9276:0.0	.	211	Q8NEW0	ZNT7_HUMAN	V	211	ENSP00000359130:G211V;ENSP00000350278:G211V	ENSP00000350278:G211V	G	+	2	0	SLC30A7	101151927	0.990000	0.36364	0.082000	0.20525	0.850000	0.48378	2.371000	0.44248	1.338000	0.45544	0.585000	0.79938	GGA	.	.		0.428	SLC30A7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032711.1	NM_133496	
COL11A1	1301	hgsc.bcm.edu	37	1	103428283	103428283	+	Missense_Mutation	SNP	G	G	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr1:103428283G>A	ENST00000370096.3	-	39	3262	c.2950C>T	c.(2950-2952)Cgt>Tgt	p.R984C	COL11A1_ENST00000512756.1_Missense_Mutation_p.R868C|COL11A1_ENST00000358392.2_Missense_Mutation_p.R996C|COL11A1_ENST00000353414.4_Missense_Mutation_p.R945C	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	984	Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GGATGCCCACGTTCCCCTATT	0.453																																					p.R996C		Atlas-SNP	.											.	COL11A1	972	.	0			c.C2986T						.						93.0	91.0	91.0					1																	103428283		2203	4300	6503	SO:0001583	missense	1301	exon39			GCCCACGTTCCCC	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.2950C>T	chr1.hg19:g.103428283G>A	ENSP00000359114:p.Arg984Cys	273.0	0.0		166.0	7.0	NM_080629	B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	hg19	CCDS778.1	.	.	.	.	.	.	.	.	.	.	G	17.44	3.390189	0.62066	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	D;D;D;D	0.93426	-3.22;-3.22;-3.22;-3.2	5.67	5.67	0.87782	.	0.115539	0.56097	D	0.000025	D	0.96898	0.8987	M	0.91090	3.175	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.85130	0.982;0.996;0.997;0.99;0.992	D	0.97238	0.9889	10	0.72032	D	0.01	.	12.8063	0.57616	0.0:0.0:0.7276:0.2724	.	868;945;996;984;204	E9PCU0;P12107-3;P12107-2;P12107;F5H5Z5	.;.;.;COBA1_HUMAN;.	C	984;996;945;204;868	ENSP00000359114:R984C;ENSP00000351163:R996C;ENSP00000302551:R945C;ENSP00000426533:R868C	ENSP00000302551:R945C	R	-	1	0	COL11A1	103200871	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.671000	0.46842	2.673000	0.90976	0.557000	0.71058	CGT	.	.		0.453	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630	
FAM212B	55924	hgsc.bcm.edu	37	1	112270030	112270030	+	Nonsense_Mutation	SNP	G	G	A	rs267597925		TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr1:112270030G>A	ENST00000357260.5	-	2	635	c.454C>T	c.(454-456)Cga>Tga	p.R152*	FAM212B_ENST00000444059.2_Nonsense_Mutation_p.R137*|FAM212B_ENST00000534365.1_Intron	NM_019099.4	NP_061972.1	Q9NTI7	F212B_HUMAN	family with sequence similarity 212, member B	152										cervix(1)|endometrium(1)	2						AGAGGCTGTCGATTCCGGCCC	0.592																																					p.R152X		Atlas-SNP	.											FAM212B,NS,carcinoma,0,2	FAM212B	17	.	0			c.C454T						.						74.0	66.0	69.0					1																	112270030		2203	4300	6503	SO:0001587	stop_gained	55924	exon2			GCTGTCGATTCCG	AK055667	CCDS841.1, CCDS44195.1	1p13.2	2011-11-24	2011-11-24	2011-11-24	ENSG00000197852	ENSG00000197852			28045	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 183"""	C1orf183			Standard	NM_019099		Approved	FLJ31105	uc001ebo.2	Q9NTI7	OTTHUMG00000011953	ENST00000357260.5:c.454C>T	chr1.hg19:g.112270030G>A	ENSP00000349805:p.Arg152*	96.0	0.0		57.0	4.0	NM_019099	B3KP38|B4DF94|Q9NTI6	Nonsense_Mutation	SNP	ENST00000357260.5	hg19	CCDS841.1	.	.	.	.	.	.	.	.	.	.	G	19.45	3.830825	0.71258	.	.	ENSG00000197852	ENST00000357260;ENST00000444059;ENST00000527621	.	.	.	5.13	4.21	0.49690	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-30.5002	13.1095	0.59265	0.0795:0.0:0.9205:0.0	.	.	.	.	X	152;137;161	.	ENSP00000349805:R152X	R	-	1	2	C1orf183	112071553	1.000000	0.71417	0.847000	0.33407	0.993000	0.82548	3.042000	0.49815	1.126000	0.42016	0.484000	0.47621	CGA	.	.		0.592	FAM212B-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000033060.2	NM_019099	
IGSF3	3321	hgsc.bcm.edu	37	1	117156433	117156433	+	Missense_Mutation	SNP	C	C	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr1:117156433C>A	ENST00000369486.3	-	4	1551	c.786G>T	c.(784-786)atG>atT	p.M262I	IGSF3_ENST00000369483.1_Missense_Mutation_p.M262I|IGSF3_ENST00000318837.6_Missense_Mutation_p.M262I	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	262	Ig-like C2-type 2.				lacrimal gland development (GO:0032808)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		GCTTTCGGGTCATAGCATACC	0.592																																					p.M262I		Atlas-SNP	.											.	IGSF3	294	.	0			c.G786T						.						39.0	35.0	36.0					1																	117156433		2203	4299	6502	SO:0001583	missense	3321	exon4			TCGGGTCATAGCA	AF031174	CCDS30813.1, CCDS30814.1	1p13	2013-01-29			ENSG00000143061	ENSG00000143061		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5950	protein-coding gene	gene with protein product		603491				9790749	Standard	NM_001007237		Approved	V8, EWI-3, MGC117164	uc031pnr.1	O75054	OTTHUMG00000022751	ENST00000369486.3:c.786G>T	chr1.hg19:g.117156433C>A	ENSP00000358498:p.Met262Ile	180.0	0.0		135.0	32.0	NM_001542	A6NJZ6|A6NMC7	Missense_Mutation	SNP	ENST00000369486.3	hg19	CCDS30813.1	.	.	.	.	.	.	.	.	.	.	C	9.632	1.136666	0.21123	.	.	ENSG00000143061	ENST00000369486;ENST00000369483;ENST00000318837	T;T;T	0.01804	4.64;4.63;4.63	4.77	3.86	0.44501	Immunoglobulin subtype (1);	0.043187	0.85682	N	0.000000	T	0.00552	0.0018	N	0.08118	0	0.53005	D	0.999962	B;B	0.25486	0.127;0.0	B;B	0.41174	0.349;0.002	T	0.42207	-0.9465	10	0.02654	T	1	-56.2366	10.7921	0.46438	0.0:0.9073:0.0:0.0927	.	262;262	O75054;A6NJZ6	IGSF3_HUMAN;.	I	262	ENSP00000358498:M262I;ENSP00000358495:M262I;ENSP00000321184:M262I	ENSP00000321184:M262I	M	-	3	0	IGSF3	116957956	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.624000	0.67764	1.236000	0.43740	0.557000	0.71058	ATG	.	.		0.592	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000059040.1	NM_001542	
HRNR	388697	hgsc.bcm.edu	37	1	152192435	152192435	+	Missense_Mutation	SNP	C	C	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr1:152192435C>G	ENST00000368801.2	-	3	1745	c.1670G>C	c.(1669-1671)aGc>aCc	p.S557T	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	557					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGGCCATAGCTGGAAGACTG	0.587																																					p.S557T		Atlas-SNP	.											HRNR,right_upper_lobe,carcinoma,0,1	HRNR	403	.	0			c.G1670C						.						148.0	158.0	154.0					1																	152192435		2203	4300	6503	SO:0001583	missense	388697	exon3			CCATAGCTGGAAG	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.1670G>C	chr1.hg19:g.152192435C>G	ENSP00000357791:p.Ser557Thr	255.0	0.0		291.0	27.0	NM_001009931	Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	hg19	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	-	5.104	0.204884	0.09704	.	.	ENSG00000197915	ENST00000368801	T	0.02787	4.16	3.92	1.99	0.26369	.	.	.	.	.	T	0.00552	0.0018	N	0.19112	0.55	0.09310	N	1	B	0.19331	0.035	B	0.12156	0.007	T	0.46176	-0.9210	9	0.16896	T	0.51	.	4.1562	0.10261	0.0:0.5902:0.1939:0.2159	.	557	Q86YZ3	HORN_HUMAN	T	557	ENSP00000357791:S557T	ENSP00000357791:S557T	S	-	2	0	HRNR	150459059	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.357000	0.20199	0.322000	0.23283	-0.265000	0.10407	AGC	.	.		0.587	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868	
TMEM79	84283	hgsc.bcm.edu	37	1	156255196	156255196	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr1:156255196A>G	ENST00000405535.2	+	2	350	c.179A>G	c.(178-180)gAg>gGg	p.E60G	TMEM79_ENST00000295694.5_Missense_Mutation_p.E60G|TMEM79_ENST00000495881.1_3'UTR|SMG5_ENST00000368267.5_5'Flank|SMG5_ENST00000361813.5_5'Flank|TMEM79_ENST00000357501.2_Intron	NM_032323.2	NP_115699.1	Q9BSE2	TMM79_HUMAN	transmembrane protein 79	60					cornification (GO:0070268)|cuticle development (GO:0042335)|epithelial cell maturation (GO:0002070)|establishment of skin barrier (GO:0061436)|hair follicle morphogenesis (GO:0031069)|positive regulation of epidermis development (GO:0045684)|regulated secretory pathway (GO:0045055)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|urinary_tract(1)	21	Hepatocellular(266;0.158)					ACAGCCATAGAGGGGGCTGAG	0.652																																					p.E60G		Atlas-SNP	.											.	TMEM79	43	.	0			c.A179G						.						43.0	47.0	45.0					1																	156255196		2203	4300	6503	SO:0001583	missense	84283	exon2			CCATAGAGGGGGC	BC005094	CCDS1138.1	1q22	2014-04-22			ENSG00000163472	ENSG00000163472			28196	protein-coding gene	gene with protein product	"""mattrin"""	615531					Standard	NM_032323		Approved	MGC13102, FLJ16057, FLJ32254, MATT	uc009wrw.3	Q9BSE2	OTTHUMG00000019788	ENST00000405535.2:c.179A>G	chr1.hg19:g.156255196A>G	ENSP00000384748:p.Glu60Gly	95.0	0.0		88.0	5.0	NM_032323	B2RE22|D3DVB8	Missense_Mutation	SNP	ENST00000405535.2	hg19	CCDS1138.1	.	.	.	.	.	.	.	.	.	.	A	12.48	1.951545	0.34471	.	.	ENSG00000163472	ENST00000295694;ENST00000405535	T;T	0.50001	0.76;0.76	5.96	4.8	0.61643	.	0.396732	0.28219	N	0.016142	T	0.13200	0.0320	L	0.29908	0.895	0.09310	N	1	B	0.14438	0.01	B	0.11329	0.006	T	0.15809	-1.0424	9	.	.	.	-6.8904	5.3667	0.16117	0.7626:0.0:0.0814:0.156	.	60	Q9BSE2	TMM79_HUMAN	G	60	ENSP00000295694:E60G;ENSP00000384748:E60G	.	E	+	2	0	TMEM79	154521820	0.997000	0.39634	0.730000	0.30809	0.925000	0.55904	0.838000	0.27572	1.013000	0.39391	0.533000	0.62120	GAG	.	.		0.652	TMEM79-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052101.1	NM_032323	
APOA1BP	128240	hgsc.bcm.edu	37	1	156563722	156563722	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr1:156563722T>C	ENST00000368235.3	+	6	756	c.713T>C	c.(712-714)cTc>cCc	p.L238P	GPATCH4_ENST00000497287.1_5'Flank|APOA1BP_ENST00000368234.3_Silent_p.A219A	NM_144772.2	NP_658985.2			apolipoprotein A-I binding protein											central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1)	9	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CCAGACTTGCTCATATCCCTC	0.542																																					p.L238P		Atlas-SNP	.											.	APOA1BP	16	.	0			c.T713C						.						115.0	117.0	116.0					1																	156563722		2203	4300	6503	SO:0001583	missense	128240	exon6			ACTTGCTCATATC	AJ315849	CCDS1145.1	1q21	2008-08-14			ENSG00000163382	ENSG00000163382			18453	protein-coding gene	gene with protein product	"""apoA-I binding protein"""	608862				11991719, 17533573	Standard	NM_144772		Approved	AIBP, MGC119143, MGC119144, MGC119145, YJEFN1	uc001fph.3	Q8NCW5	OTTHUMG00000033206	ENST00000368235.3:c.713T>C	chr1.hg19:g.156563722T>C	ENSP00000357218:p.Leu238Pro	135.0	0.0		143.0	6.0	NM_144772		Missense_Mutation	SNP	ENST00000368235.3	hg19	CCDS1145.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.178412	0.78564	.	.	ENSG00000163382	ENST00000446584;ENST00000368235	T	0.45668	0.89	4.86	4.86	0.63082	YjeF-related protein, N-terminal (5);	0.000000	0.85682	D	0.000000	T	0.69142	0.3078	H	0.96239	3.79	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80096	-0.1525	10	0.72032	D	0.01	.	13.3193	0.60424	0.0:0.0:0.0:1.0	.	238	Q8NCW5	AIBP_HUMAN	P	256;238	ENSP00000357218:L238P	ENSP00000357218:L238P	L	+	2	0	APOA1BP	154830346	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	8.040000	0.89188	1.806000	0.52798	0.460000	0.39030	CTC	.	.		0.542	APOA1BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081044.1	NM_144772	
ARHGEF11	9826	hgsc.bcm.edu	37	1	156954223	156954223	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr1:156954223A>G	ENST00000361409.2	-	3	873	c.131T>C	c.(130-132)gTt>gCt	p.V44A	ARHGEF11_ENST00000368194.3_Missense_Mutation_p.V44A|RN7SL612P_ENST00000497704.2_RNA	NM_014784.3	NP_055599.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	44					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cytokinesis (GO:0000910)|establishment of cell polarity (GO:0030010)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|striated muscle contraction (GO:0006941)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					ACAGCGTTGAACGAGACCTGG	0.552																																					p.V44A		Atlas-SNP	.											.	ARHGEF11	168	.	0			c.T131C						.						112.0	67.0	82.0					1																	156954223		2202	4298	6500	SO:0001583	missense	9826	exon3			CGTTGAACGAGAC	AB002378	CCDS1162.1, CCDS1163.1	1q21	2011-11-16			ENSG00000132694	ENSG00000132694		"""Rho guanine nucleotide exchange factors"""	14580	protein-coding gene	gene with protein product		605708				10526156, 9205841	Standard	NM_014784		Approved	KIAA0380, GTRAP48, PDZ-RHOGEF	uc001fqn.3	O15085	OTTHUMG00000041292	ENST00000361409.2:c.131T>C	chr1.hg19:g.156954223A>G	ENSP00000354644:p.Val44Ala	87.0	0.0		100.0	4.0	NM_014784	D3DVD0|Q5VY40|Q6PFW2	Missense_Mutation	SNP	ENST00000361409.2	hg19	CCDS1162.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.149915	0.78001	.	.	ENSG00000132694	ENST00000368194;ENST00000361409	T;T	0.16743	2.32;2.32	5.08	5.08	0.68730	PDZ/DHR/GLGF (1);	0.000000	0.50627	D	0.000109	T	0.20618	0.0496	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.71184	0.917;0.972	T	0.01920	-1.1247	10	0.72032	D	0.01	-12.6257	13.9783	0.64285	1.0:0.0:0.0:0.0	.	44;44	O15085;O15085-2	ARHGB_HUMAN;.	A	44	ENSP00000357177:V44A;ENSP00000354644:V44A	ENSP00000354644:V44A	V	-	2	0	ARHGEF11	155220847	1.000000	0.71417	0.998000	0.56505	0.816000	0.46133	7.081000	0.76844	2.127000	0.65507	0.533000	0.62120	GTT	.	.		0.552	ARHGEF11-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098931.1	NM_198236	
FCRL5	83416	hgsc.bcm.edu	37	1	157497528	157497528	+	Silent	SNP	G	G	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr1:157497528G>A	ENST00000361835.3	-	9	1996	c.1839C>T	c.(1837-1839)ccC>ccT	p.P613P	FCRL5_ENST00000368190.3_Silent_p.P613P|FCRL5_ENST00000356953.4_Silent_p.P613P|FCRL5_ENST00000368191.3_Silent_p.P528P	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	613	Ig-like C2-type 6.				negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				CTCCTCCAGAGGGGGCTGAGC	0.557																																					p.P613P		Atlas-SNP	.											.	FCRL5	177	.	0			c.C1839T						.						80.0	81.0	81.0					1																	157497528		2203	4300	6503	SO:0001819	synonymous_variant	83416	exon9			TCCAGAGGGGGCT	AF369794	CCDS1165.1	1q21	2013-01-11			ENSG00000143297	ENSG00000143297		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18508	protein-coding gene	gene with protein product		605877				11027651, 11290337	Standard	NM_031281		Approved	FCRH5, IRTA2, BXMAS1, CD307e	uc009wsm.3	Q96RD9	OTTHUMG00000017481	ENST00000361835.3:c.1839C>T	chr1.hg19:g.157497528G>A		222.0	0.0		218.0	140.0	NM_031281	A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	Silent	SNP	ENST00000361835.3	hg19	CCDS1165.1																																																																																			.	.		0.557	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046263.1	NM_031281	
DCAF8	50717	hgsc.bcm.edu	37	1	160192562	160192562	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr1:160192562A>G	ENST00000368073.3	-	11	1753	c.1319T>C	c.(1318-1320)gTc>gCc	p.V440A	DCAF8_ENST00000326837.2_Missense_Mutation_p.V440A|DCAF8_ENST00000368074.1_Missense_Mutation_p.V440A|DCAF8_ENST00000608310.1_Missense_Mutation_p.V594A|DCAF8_ENST00000556710.1_Missense_Mutation_p.V594A			Q5TAQ9	DCAF8_HUMAN	DDB1 and CUL4 associated factor 8	440					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(16)|skin(3)|upper_aerodigestive_tract(1)	33						ATAGAAATTGACGCCTTTTAC	0.428																																					p.V440A		Atlas-SNP	.											.	DCAF8	64	.	0			c.T1319C						.						76.0	78.0	77.0					1																	160192562		2203	4300	6503	SO:0001583	missense	50717	exon11			AAATTGACGCCTT	AK093176	CCDS1200.1	1q22-q23	2013-01-09	2009-07-17	2009-07-17	ENSG00000132716	ENSG00000132716		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	24891	protein-coding gene	gene with protein product		615820	"""WD repeat domain 42A"""	WDR42A		11401431	Standard	NM_015726		Approved	H326, FLJ35857	uc010pjb.1	Q5TAQ9	OTTHUMG00000031604	ENST00000368073.3:c.1319T>C	chr1.hg19:g.160192562A>G	ENSP00000357052:p.Val440Ala	99.0	0.0		118.0	5.0	NM_015726	D3DVE6|Q12839|Q4QQI6|Q53F14|Q66K50|Q68CS7|Q96E00	Missense_Mutation	SNP	ENST00000368073.3	hg19	CCDS1200.1	.	.	.	.	.	.	.	.	.	.	A	19.44	3.828457	0.71143	.	.	ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000258465	ENST00000368073;ENST00000326837;ENST00000368074;ENST00000555195;ENST00000540855;ENST00000556710	D;D;D;D;D	0.82711	-1.64;-1.64;-1.64;-1.64;-1.64	5.07	5.07	0.68467	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.181943	0.35349	U	0.003280	D	0.85894	0.5803	L	0.59967	1.855	0.58432	D	0.999994	D;D	0.61697	0.99;0.987	D;P	0.70935	0.971;0.735	D	0.87757	0.2596	10	0.72032	D	0.01	-9.4744	12.4565	0.55708	1.0:0.0:0.0:0.0	.	594;440	G3V3G9;Q5TAQ9	.;DCAF8_HUMAN	A	440;440;440;594;421;594	ENSP00000357052:V440A;ENSP00000318227:V440A;ENSP00000357053:V440A;ENSP00000451989:V594A;ENSP00000451235:V594A	ENSP00000318227:V440A	V	-	2	0	RP11-574F21.3;DCAF8	158459186	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	8.134000	0.89606	2.130000	0.65690	0.528000	0.53228	GTC	.	.		0.428	DCAF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077402.2	NM_015726	
USP21	27005	hgsc.bcm.edu	37	1	161134677	161134677	+	Silent	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr1:161134677T>C	ENST00000289865.8	+	11	1658	c.1437T>C	c.(1435-1437)ggT>ggC	p.G479G	PPOX_ENST00000367999.4_5'Flank|PPOX_ENST00000432542.2_5'Flank|PPOX_ENST00000544598.1_5'Flank|PPOX_ENST00000535223.1_5'Flank|USP21_ENST00000368001.1_Silent_p.G479G|USP21_ENST00000368002.3_Silent_p.G479G|PPOX_ENST00000352210.5_5'Flank|USP21_ENST00000493054.1_3'UTR	NM_012475.4	NP_036607.3	Q9UK80	UBP21_HUMAN	ubiquitin specific peptidase 21	479	USP.				histone deubiquitination (GO:0016578)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	cysteine-type peptidase activity (GO:0008234)|metal ion binding (GO:0046872)|NEDD8-specific protease activity (GO:0019784)|transcription coactivator activity (GO:0003713)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3)	29	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GTTCAGTAGGTGTAGACTTTC	0.547																																					p.G479G		Atlas-SNP	.											.	USP21	63	.	0			c.T1437C						.						78.0	79.0	79.0					1																	161134677		2203	4300	6503	SO:0001819	synonymous_variant	27005	exon11			AGTAGGTGTAGAC	AF177758	CCDS30920.1	1q22	2008-04-11	2005-08-08		ENSG00000143258	ENSG00000143258		"""Ubiquitin-specific peptidases"""	12620	protein-coding gene	gene with protein product		604729	"""ubiquitin specific protease 21"""	USP23		12838346, 10799498	Standard	XM_006711273		Approved	USP16	uc010pkd.2	Q9UK80	OTTHUMG00000033154	ENST00000289865.8:c.1437T>C	chr1.hg19:g.161134677T>C		205.0	0.0		199.0	9.0	NM_012475	Q59H60|Q5BKT5|Q5VTW9|Q5VTX0|Q9BTV1|Q9HBS2|Q9NYN4	Silent	SNP	ENST00000289865.8	hg19	CCDS30920.1																																																																																			.	.		0.547	USP21-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080801.1		
RGSL1	353299	hgsc.bcm.edu	37	1	182443271	182443271	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr1:182443271T>C	ENST00000294854.8	+	6	1045	c.1025T>C	c.(1024-1026)cTg>cCg	p.L342P	RGSL1_ENST00000542961.1_Missense_Mutation_p.L377P	NM_001137669.1	NP_001131141.1	A5PLK6	RGSL_HUMAN	regulator of G-protein signaling like 1	342					termination of G-protein coupled receptor signaling pathway (GO:0038032)	integral component of membrane (GO:0016021)				central_nervous_system(2)|skin(4)	6						TCTACCCACCTGAGGACTGTC	0.463																																					p.L342P	Ovarian(71;11 616 11292 12944 18021 32289 33994 41738 46526)	Atlas-SNP	.											.	RGSL1	111	.	0			c.T1025C						.						83.0	72.0	75.0					1																	182443271		692	1591	2283	SO:0001583	missense	353299	exon6			CCCACCTGAGGAC	AF510428	CCDS58049.1	1q25	2013-04-02	2007-08-14		ENSG00000121446	ENSG00000121446			18636	protein-coding gene	gene with protein product		611012	"""regulator of G-protein signalling like 1"", ""regulator of G-protein signaling like 2"", ""regulator of G-protein signalling like 2"""	RGSL2		12801632	Standard	NM_001137669		Approved		uc009wxw.3	A5PLK6	OTTHUMG00000035217	ENST00000294854.8:c.1025T>C	chr1.hg19:g.182443271T>C	ENSP00000457748:p.Leu342Pro	121.0	0.0		137.0	6.0	NM_001137669	A2A2Z0|A6PVM2|A6PVM3|Q0VAJ4|Q0VAJ5|Q6ZRL0|Q86UV0|Q9H084	Missense_Mutation	SNP	ENST00000294854.8	hg19	CCDS58049.1																																																																																			.	.		0.463	RGSL1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320710.3	NM_181572	
SHCBP1L	81626	hgsc.bcm.edu	37	1	182921997	182921997	+	Missense_Mutation	SNP	T	T	C	rs199811188	byFrequency	TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr1:182921997T>C	ENST00000367547.3	-	1	508	c.272A>G	c.(271-273)gAg>gGg	p.E91G	SHCBP1L_ENST00000423786.1_5'Flank|SHCBP1L_ENST00000488956.1_5'UTR	NM_030933.2	NP_112195.2	Q9BZQ2	SHP1L_HUMAN	SHC SH2-domain binding protein 1-like	163										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|pancreas(1)|prostate(1)|skin(2)	15						CAGCAGGGGCTCCTccgccgc	0.736													T|||	7	0.00139776	0.0	0.0014	5008	,	,		11502	0.0		0.001	False		,,,				2504	0.0051				p.E91G		Atlas-SNP	.											.	SHCBP1L	64	.	0			c.A272G						.	T	GLY/GLU	1,4393		0,1,2196	10.0	11.0	11.0		272	1.8	0.8	1		11	2,8586		0,2,4292	no	missense	SHCBP1L	NM_030933.2	98	0,3,6488	CC,CT,TT		0.0233,0.0228,0.0231	possibly-damaging	91/654	182921997	3,12979	2197	4294	6491	SO:0001583	missense	81626	exon1			AGGGGCTCCTCCG	AF288397	CCDS30955.1	1q25	2011-01-24	2011-01-24	2011-01-24	ENSG00000157060	ENSG00000157060			16788	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 14"""	C1orf14		11318611	Standard	NM_030933		Approved		uc001gpu.3	Q9BZQ2	OTTHUMG00000035419	ENST00000367547.3:c.272A>G	chr1.hg19:g.182921997T>C	ENSP00000356518:p.Glu91Gly	32.0	0.0		36.0	4.0	NM_030933	Q4G195|Q9BZQ3|Q9H2B6	Missense_Mutation	SNP	ENST00000367547.3	hg19	CCDS30955.1	.	.	.	.	.	.	.	.	.	.	T	14.83	2.653628	0.47362	2.28E-4	2.33E-4	ENSG00000157060	ENST00000367547;ENST00000287709	T	0.51325	0.71	4.12	1.75	0.24633	.	0.583503	0.13186	N	0.407160	T	0.27933	0.0688	N	0.17082	0.46	0.80722	D	1	B	0.12630	0.006	B	0.14578	0.011	T	0.08330	-1.0727	10	0.46703	T	0.11	-6.046	5.2036	0.15279	0.0:0.2482:0.0:0.7518	.	91	Q9BZQ2-3	.	G	91;160	ENSP00000356518:E91G	ENSP00000287709:E160G	E	-	2	0	SHCBP1L	181188620	0.005000	0.15991	0.800000	0.32199	0.096000	0.18686	-0.056000	0.11787	0.562000	0.29204	0.260000	0.18958	GAG	.	.		0.736	SHCBP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085956.1	NM_030933	
KIF21B	23046	hgsc.bcm.edu	37	1	200978024	200978024	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr1:200978024T>C	ENST00000422435.2	-	3	636	c.320A>G	c.(319-321)gAg>gGg	p.E107G	KIF21B_ENST00000332129.2_Missense_Mutation_p.E107G|KIF21B_ENST00000461742.2_Missense_Mutation_p.E107G|KIF21B_ENST00000360529.5_Missense_Mutation_p.E107G	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	107	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						CTGCTCCTCCTCCGACGTTGC	0.642																																					p.E107G		Atlas-SNP	.											.	KIF21B	208	.	0			c.A320G						.						117.0	103.0	108.0					1																	200978024		2203	4300	6503	SO:0001583	missense	23046	exon3			TCCTCCTCCGACG	BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"""Kinesins"", ""WD repeat domain containing"""	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.320A>G	chr1.hg19:g.200978024T>C	ENSP00000411831:p.Glu107Gly	101.0	0.0		100.0	6.0	NM_017596	B2RP62|B7ZMI0|Q5T4J3	Missense_Mutation	SNP	ENST00000422435.2	hg19	CCDS58056.1	.	.	.	.	.	.	.	.	.	.	T	16.47	3.131757	0.56828	.	.	ENSG00000116852	ENST00000332129;ENST00000360529;ENST00000461742;ENST00000422435;ENST00000539858	T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03	5.57	5.57	0.84162	Kinesin, motor domain (4);	0.124152	0.53938	D	0.000053	T	0.75671	0.3881	N	0.22421	0.69	0.47905	D	0.999541	P;P;P;P	0.47484	0.896;0.896;0.801;0.873	P;P;P;P	0.51550	0.596;0.596;0.673;0.461	T	0.79485	-0.1784	10	0.72032	D	0.01	.	15.7361	0.77846	0.0:0.0:0.0:1.0	.	107;107;107;107	B7ZMI0;B2RP62;O75037;O75037-2	.;.;KI21B_HUMAN;.	G	107	ENSP00000328494:E107G;ENSP00000353724:E107G;ENSP00000433808:E107G;ENSP00000411831:E107G	ENSP00000328494:E107G	E	-	2	0	KIF21B	199244647	1.000000	0.71417	0.987000	0.45799	0.661000	0.39034	3.609000	0.54117	2.119000	0.64992	0.528000	0.53228	GAG	.	.		0.642	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382635.1	XM_371332	
KLHL12	59349	hgsc.bcm.edu	37	1	202887515	202887515	+	Splice_Site	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr1:202887515A>G	ENST00000367261.3	-	4	569	c.351T>C	c.(349-351)ggT>ggC	p.G117G	KLHL12_ENST00000435533.3_Splice_Site_p.G155G	NM_021633.2	NP_067646.1	Q53G59	KLH12_HUMAN	kelch-like family member 12	117					COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|protein monoubiquitination (GO:0006513)|Wnt signaling pathway (GO:0016055)	Cul3-RING ubiquitin ligase complex (GO:0031463)|ER to Golgi transport vesicle (GO:0030134)|Golgi membrane (GO:0000139)				NS(3)|breast(2)|endometrium(1)|large_intestine(1)|lung(6)|stomach(1)	14			BRCA - Breast invasive adenocarcinoma(75;0.166)			CTTGTTTCACACCTAGGACAG	0.418																																					p.G117G		Atlas-SNP	.											.	KLHL12	50	.	0			c.T351C						.						68.0	63.0	65.0					1																	202887515		2203	4300	6503	SO:0001630	splice_region_variant	59349	exon4			TTTCACACCTAGG	AF190900	CCDS1429.1	1q32.1	2013-01-30	2013-01-30		ENSG00000117153	ENSG00000117153		"""Kelch-like"", ""BTB/POZ domain containing"""	19360	protein-coding gene	gene with protein product		614522	"""kelch-like 12 (Drosophila)"""			12477932	Standard	NM_021633		Approved	C3IP1	uc001gyo.1	Q53G59	OTTHUMG00000041385	ENST00000367261.3:c.350-1T>C	chr1.hg19:g.202887515A>G		88.0	0.0		95.0	5.0	NM_021633	A6NEN8|B7Z7B8|Q9HBX5	Silent	SNP	ENST00000367261.3	hg19	CCDS1429.1																																																																																			.	.		0.418	KLHL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099151.1	NM_021633	Silent
ANGEL2	90806	hgsc.bcm.edu	37	1	213178764	213178764	+	Missense_Mutation	SNP	T	T	C	rs144576191		TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr1:213178764T>C	ENST00000366962.3	-	5	899	c.745A>G	c.(745-747)Agg>Ggg	p.R249G	ANGEL2_ENST00000360506.2_Missense_Mutation_p.R80G|ANGEL2_ENST00000535388.1_Missense_Mutation_p.R80G|ANGEL2_ENST00000544555.1_Missense_Mutation_p.R80G|ANGEL2_ENST00000540642.1_Missense_Mutation_p.R123G	NM_144567.3	NP_653168.2	Q5VTE6	ANGE2_HUMAN	angel homolog 2 (Drosophila)	249										central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(1)	24				OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185)		TCAGGTTTCCTTCCTGTCCGC	0.373													T|||	1	0.000199681	0.0008	0.0	5008	,	,		20075	0.0		0.0	False		,,,				2504	0.0				p.R249G		Atlas-SNP	.											.	ANGEL2	45	.	0			c.A745G						.	T	GLY/ARG	5,4391	9.9+/-24.2	0,5,2193	103.0	110.0	107.0		745	1.6	1.0	1	dbSNP_134	107	0,8598		0,0,4299	yes	missense	ANGEL2	NM_144567.3	125	0,5,6492	CC,CT,TT		0.0,0.1137,0.0385	benign	249/545	213178764	5,12989	2198	4299	6497	SO:0001583	missense	90806	exon5			GTTTCCTTCCTGT	AL079275	CCDS1512.1, CCDS73027.1	1q32.3	2014-06-17			ENSG00000174606	ENSG00000174606			30534	protein-coding gene	gene with protein product						11943475	Standard	XM_005273344		Approved	KIAA0759L, FLJ12793, Ccr4d	uc001hjz.3	Q5VTE6	OTTHUMG00000036927	ENST00000366962.3:c.745A>G	chr1.hg19:g.213178764T>C	ENSP00000355929:p.Arg249Gly	60.0	0.0		91.0	4.0	NM_144567	B7Z2U4|D3DTA3|Q86X13|Q8NHH3	Missense_Mutation	SNP	ENST00000366962.3	hg19	CCDS1512.1	.	.	.	.	.	.	.	.	.	.	T	10.11	1.260633	0.23051	0.001137	0.0	ENSG00000174606	ENST00000366962;ENST00000360506;ENST00000544555;ENST00000540642;ENST00000535388	D;D;D;D;D	0.95137	-3.31;-3.62;-3.62;-3.31;-3.62	5.45	1.62	0.23740	Endonuclease/exonuclease/phosphatase (2);	0.347510	0.36932	N	0.002322	D	0.88455	0.6441	L	0.28649	0.875	0.28520	N	0.913132	B;B	0.22851	0.053;0.076	B;B	0.29440	0.038;0.102	T	0.77062	-0.2727	10	0.23302	T	0.38	-1.7679	7.8676	0.29545	0.0:0.072:0.2227:0.7053	.	123;249	F5H476;Q5VTE6	.;ANGE2_HUMAN	G	249;80;80;123;80	ENSP00000355929:R249G;ENSP00000353696:R80G;ENSP00000443193:R80G;ENSP00000446124:R123G;ENSP00000438141:R80G	ENSP00000353696:R80G	R	-	1	2	ANGEL2	211245387	0.995000	0.38212	0.985000	0.45067	0.997000	0.91878	3.633000	0.54295	0.075000	0.16796	0.528000	0.53228	AGG	.	T|1.000;C|0.000		0.373	ANGEL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089693.1	NM_144567	
EXOC8	149371	hgsc.bcm.edu	37	1	231472089	231472089	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr1:231472089A>G	ENST00000360394.2	-	1	1489	c.1403T>C	c.(1402-1404)cTc>cCc	p.L468P	EXOC8_ENST00000366645.1_Missense_Mutation_p.L464P|SPRTN_ENST00000391858.4_5'Flank|SPRTN_ENST00000295050.7_5'Flank|SPRTN_ENST00000008440.9_5'Flank	NM_175876.3	NP_787072.2	Q8IYI6	EXOC8_HUMAN	exocyst complex component 8	468					cellular protein localization (GO:0034613)|cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|exocyst (GO:0000145)|membrane (GO:0016020)|plasma membrane (GO:0005886)				cervix(2)|endometrium(1)|large_intestine(2)|liver(1)|lung(5)|prostate(1)|skin(1)|stomach(1)	14	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)				TGCAGTCTCGAGAAGGCTGGT	0.502																																					p.L468P		Atlas-SNP	.											.	EXOC8	42	.	0			c.T1403C						.						44.0	41.0	42.0					1																	231472089		2203	4300	6503	SO:0001583	missense	149371	exon1			GTCTCGAGAAGGC	AL117352	CCDS1593.1	1q42.2	2013-01-22			ENSG00000116903	ENSG00000116903			24659	protein-coding gene	gene with protein product		615283				12477932	Standard	NM_175876		Approved	SEC84, EXO84, Exo84p	uc001huq.3	Q8IYI6	OTTHUMG00000038025	ENST00000360394.2:c.1403T>C	chr1.hg19:g.231472089A>G	ENSP00000353564:p.Leu468Pro	103.0	0.0		93.0	5.0	NM_175876	B3KU33|Q5TE82	Missense_Mutation	SNP	ENST00000360394.2	hg19	CCDS1593.1	.	.	.	.	.	.	.	.	.	.	A	13.94	2.387092	0.42308	.	.	ENSG00000116903	ENST00000360394;ENST00000366645	T;T	0.77229	-1.08;-1.08	5.79	5.79	0.91817	Cullin repeat-like-containing domain (1);	0.069490	0.64402	D	0.000015	D	0.83977	0.5371	M	0.65975	2.015	0.80722	D	1	D	0.64830	0.994	P	0.58721	0.844	T	0.81741	-0.0794	10	0.23891	T	0.37	-12.3418	16.1224	0.81369	1.0:0.0:0.0:0.0	.	468	Q8IYI6	EXOC8_HUMAN	P	468;464	ENSP00000353564:L468P;ENSP00000355605:L464P	ENSP00000353564:L468P	L	-	2	0	EXOC8	229538712	1.000000	0.71417	0.232000	0.24009	0.596000	0.36781	9.297000	0.96120	2.208000	0.71279	0.533000	0.62120	CTC	.	.		0.502	EXOC8-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_175876	
NID1	4811	hgsc.bcm.edu	37	1	236228260	236228260	+	Silent	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr1:236228260T>C	ENST00000264187.6	-	1	202	c.120A>G	c.(118-120)ggA>ggG	p.G40G	NID1_ENST00000366595.3_Silent_p.G40G	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	40				FGPGQG -> SAPDR (in Ref. 2; CAA57709). {ECO:0000305}.	basement membrane organization (GO:0071711)|cell-matrix adhesion (GO:0007160)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|positive regulation of cell-substrate adhesion (GO:0010811)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|cell periphery (GO:0071944)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Urokinase(DB00013)	GGTCCCCCTGTCCGGGGCCGA	0.701																																					p.G40G		Atlas-SNP	.											.	NID1	196	.	0			c.A120G						.						19.0	17.0	18.0					1																	236228260		2199	4297	6496	SO:0001819	synonymous_variant	4811	exon1			CCCCTGTCCGGGG	BC045606	CCDS1608.1	1q43	2011-05-08	2005-06-02	2005-06-02	ENSG00000116962	ENSG00000116962			7821	protein-coding gene	gene with protein product		131390	"""nidogen (enactin)"""	NID		2471408, 7557988	Standard	NM_002508		Approved	entactin	uc001hxo.3	P14543	OTTHUMG00000040071	ENST00000264187.6:c.120A>G	chr1.hg19:g.236228260T>C		83.0	0.0		118.0	9.0	NM_002508	Q14942|Q59FL2|Q5TAF2|Q5TAF3|Q86XD7	Silent	SNP	ENST00000264187.6	hg19	CCDS1608.1																																																																																			.	.		0.701	NID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096647.2	NM_002508	
HEATR1	55127	hgsc.bcm.edu	37	1	236715301	236715301	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr1:236715301T>C	ENST00000366582.3	-	44	6458	c.6344A>G	c.(6343-6345)gAa>gGa	p.E2115G	HEATR1_ENST00000366581.2_Missense_Mutation_p.E2034G|RP11-385F5.4_ENST00000433131.1_RNA|LGALS8_ENST00000526589.1_3'UTR	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	2115					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			GGAATTACCTTCCATCAACTC	0.343																																					p.E2115G		Atlas-SNP	.											.	HEATR1	197	.	0			c.A6344G						.						133.0	133.0	133.0					1																	236715301		2203	4300	6503	SO:0001583	missense	55127	exon44			TTACCTTCCATCA	BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"""UTP10, small subunit (SSU) processome component, homolog (yeast)"""					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.6344A>G	chr1.hg19:g.236715301T>C	ENSP00000355541:p.Glu2115Gly	97.0	0.0		116.0	6.0	NM_018072	Q5T3Q8|Q6P197|Q9NW23	Missense_Mutation	SNP	ENST00000366582.3	hg19	CCDS31066.1	.	.	.	.	.	.	.	.	.	.	T	26.1	4.700471	0.88924	.	.	ENSG00000119285	ENST00000366582;ENST00000366581	T;T	0.66280	-0.2;-0.2	4.9	4.9	0.64082	Armadillo-like helical (1);Armadillo-type fold (1);	0.049413	0.85682	D	0.000000	D	0.83839	0.5341	M	0.93507	3.425	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.88377	0.2999	10	0.87932	D	0	.	14.985	0.71342	0.0:0.0:0.0:1.0	.	2034;2115	Q5T3Q7;Q9H583	.;HEAT1_HUMAN	G	2115;2034	ENSP00000355541:E2115G;ENSP00000355540:E2034G	ENSP00000355540:E2034G	E	-	2	0	HEATR1	234781924	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.629000	0.83207	2.181000	0.69327	0.533000	0.62120	GAA	.	.		0.343	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096635.1	XM_375853	
RYR2	6262	hgsc.bcm.edu	37	1	237666628	237666628	+	Missense_Mutation	SNP	A	A	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr1:237666628A>T	ENST00000366574.2	+	22	2753	c.2436A>T	c.(2434-2436)aaA>aaT	p.K812N	RYR2_ENST00000542537.1_Missense_Mutation_p.K796N|RYR2_ENST00000360064.6_Missense_Mutation_p.K810N	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	812					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)			GAGAATTCAAATTTCTTCCTC	0.408																																					p.K812N		Atlas-SNP	.											.	RYR2	1273	.	0			c.A2436T						.						74.0	73.0	73.0					1																	237666628		1905	4121	6026	SO:0001583	missense	6262	exon22			ATTCAAATTTCTT	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.2436A>T	chr1.hg19:g.237666628A>T	ENSP00000355533:p.Lys812Asn	175.0	0.0		204.0	31.0	NM_001035	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	hg19	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.033768	0.75504	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;T;T	0.61510	0.1;0.1;0.1	5.73	-0.908	0.10517	Concanavalin A-like lectin/glucanase (1);	0.000000	0.64402	D	0.000004	T	0.67748	0.2926	M	0.76574	2.34	0.80722	D	1	D	0.69078	0.997	P	0.60789	0.879	T	0.69154	-0.5220	10	0.56958	D	0.05	.	11.5221	0.50558	0.5216:0.0:0.4784:0.0	.	812	Q92736	RYR2_HUMAN	N	812;810;796	ENSP00000355533:K812N;ENSP00000353174:K810N;ENSP00000443798:K796N	ENSP00000353174:K810N	K	+	3	2	RYR2	235733251	0.977000	0.34250	0.997000	0.53966	0.987000	0.75469	0.153000	0.16323	-0.097000	0.12307	0.533000	0.62120	AAA	.	.		0.408	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035	
OR6F1	343169	hgsc.bcm.edu	37	1	247875696	247875696	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr1:247875696T>C	ENST00000302084.2	-	1	409	c.362A>G	c.(361-363)gAc>gGc	p.D121G	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	121						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(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			AAGACAGCGGTCATAAGCCAT	0.507																																					p.D121G		Atlas-SNP	.											OR6F1,NS,carcinoma,0,1	OR6F1	88	.	0			c.A362G						.						83.0	80.0	81.0					1																	247875696		2203	4300	6503	SO:0001583	missense	343169	exon1			CAGCGGTCATAAG	BK004460	CCDS31095.1	1q44	2012-08-09			ENSG00000169214	ENSG00000169214		"""GPCR / Class A : Olfactory receptors"""	15027	protein-coding gene	gene with protein product							Standard	NM_001005286		Approved	OST731	uc001idj.1	Q8NGZ6	OTTHUMG00000040213	ENST00000302084.2:c.362A>G	chr1.hg19:g.247875696T>C	ENSP00000305640:p.Asp121Gly	101.0	0.0		100.0	4.0	NM_001005286	B2RNV6|Q6IF02|Q96R39	Missense_Mutation	SNP	ENST00000302084.2	hg19	CCDS31095.1	.	.	.	.	.	.	.	.	.	.	T	18.53	3.643734	0.67244	.	.	ENSG00000169214	ENST00000302084	T	0.18174	2.23	3.99	3.99	0.46301	GPCR, rhodopsin-like superfamily (1);	0.147363	0.31177	N	0.008112	T	0.44159	0.1280	H	0.97491	4.015	0.47905	D	0.999546	P	0.52316	0.952	P	0.49477	0.612	T	0.64765	-0.6330	10	0.87932	D	0	-36.9646	12.1482	0.54036	0.0:0.0:0.0:1.0	.	121	Q8NGZ6	OR6F1_HUMAN	G	121	ENSP00000305640:D121G	ENSP00000305640:D121G	D	-	2	0	OR6F1	245942319	1.000000	0.71417	0.455000	0.27031	0.597000	0.36814	6.609000	0.74173	1.793000	0.52555	0.482000	0.46254	GAC	.	.		0.507	OR6F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096870.1	NM_001005286	
TPO	7173	hgsc.bcm.edu	37	2	1440149	1440149	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr2:1440149A>G	ENST00000345913.4	+	5	566	c.475A>G	c.(475-477)Aac>Gac	p.N159D	TPO_ENST00000349624.3_Missense_Mutation_p.N159D|TPO_ENST00000497517.2_Intron|TPO_ENST00000382201.3_Missense_Mutation_p.N159D|TPO_ENST00000346956.3_Missense_Mutation_p.N159D|TPO_ENST00000539820.1_Missense_Mutation_p.N159D|TPO_ENST00000382198.1_Missense_Mutation_p.N159D|TPO_ENST00000337415.3_Missense_Mutation_p.N159D|TPO_ENST00000329066.4_Missense_Mutation_p.N159D|TPO_ENST00000382269.3_Missense_Mutation_p.N159D	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	159					cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	AGGAGCTTGCAACAACAGGTA	0.458																																					p.N159D		Atlas-SNP	.											.	TPO	224	.	0			c.A475G						.						122.0	119.0	120.0					2																	1440149		2203	4300	6503	SO:0001583	missense	7173	exon5			GCTTGCAACAACA		CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.475A>G	chr2.hg19:g.1440149A>G	ENSP00000318820:p.Asn159Asp	195.0	0.0		94.0	4.0	NM_175719	P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Missense_Mutation	SNP	ENST00000345913.4	hg19	CCDS1643.1	.	.	.	.	.	.	.	.	.	.	A	16.55	3.155631	0.57259	.	.	ENSG00000115705	ENST00000382269;ENST00000337415;ENST00000345913;ENST00000346956;ENST00000349624;ENST00000539820;ENST00000329066;ENST00000382201;ENST00000423320;ENST00000382198;ENST00000422464	T;D;D;D;D;T;D;D;D;D;D	0.84730	0.41;-1.89;-1.89;-1.89;-1.89;0.41;-1.89;-1.89;-1.84;-1.89;-1.89	5.14	5.14	0.70334	.	0.042972	0.85682	D	0.000000	D	0.94823	0.8328	H	0.97758	4.07	0.31131	N	0.707749	D;D;D;D;D	0.89917	0.996;0.987;1.0;1.0;0.997	D;P;D;D;D	0.97110	0.913;0.856;1.0;1.0;0.948	D	0.94406	0.7627	10	0.72032	D	0.01	-21.2821	12.4759	0.55814	1.0:0.0:0.0:0.0	.	159;159;159;159;159	P07202-4;P07202-5;E9PFM6;P07202-2;P07202	.;.;.;.;PERT_HUMAN	D	159;159;159;159;159;159;159;159;159;159;88	ENSP00000371704:N159D;ENSP00000337263:N159D;ENSP00000318820:N159D;ENSP00000263886:N159D;ENSP00000332044:N159D;ENSP00000444840:N159D;ENSP00000329869:N159D;ENSP00000371636:N159D;ENSP00000390994:N159D;ENSP00000371633:N159D;ENSP00000405788:N88D	ENSP00000329869:N159D	N	+	1	0	TPO	1419156	1.000000	0.71417	1.000000	0.80357	0.307000	0.27823	5.293000	0.65680	1.935000	0.56089	0.260000	0.18958	AAC	.	.		0.458	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	NM_000547	
MYT1L	23040	hgsc.bcm.edu	37	2	1915833	1915833	+	Silent	SNP	C	C	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr2:1915833C>A	ENST00000399161.2	-	12	2415	c.1668G>T	c.(1666-1668)acG>acT	p.T556T	MYT1L_ENST00000428368.2_Silent_p.T554T	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	556					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GCCCGCGCCCCGTGCAGCCCG	0.597																																					p.T554T		Atlas-SNP	.											.	MYT1L	241	.	0			c.G1662T						.						44.0	47.0	46.0					2																	1915833		2049	4220	6269	SO:0001819	synonymous_variant	23040	exon12			GCGCCCCGTGCAG	AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"""Zinc fingers, C2HC-type containing"""	7623	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 1"""	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.1668G>T	chr2.hg19:g.1915833C>A		110.0	0.0		75.0	4.0	NM_015025	A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Silent	SNP	ENST00000399161.2	hg19																																																																																				.	.		0.597	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025	
KIDINS220	57498	hgsc.bcm.edu	37	2	8931198	8931198	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr2:8931198T>C	ENST00000256707.3	-	13	1614	c.1433A>G	c.(1432-1434)aAa>aGa	p.K478R	KIDINS220_ENST00000427284.1_Missense_Mutation_p.K478R|KIDINS220_ENST00000418530.1_Missense_Mutation_p.K436R|KIDINS220_ENST00000319688.5_Missense_Mutation_p.K479R|KIDINS220_ENST00000473731.1_Missense_Mutation_p.K478R	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	478	KAP NTPase.				activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					ACCTTCTAGTTTCTTGAGTAA	0.423																																					p.K478R		Atlas-SNP	.											.	KIDINS220	136	.	0			c.A1433G						.						87.0	82.0	84.0					2																	8931198		1853	4085	5938	SO:0001583	missense	57498	exon13			TCTAGTTTCTTGA	AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"""Ankyrin repeat domain containing"""	29508	protein-coding gene	gene with protein product	"""ankyrin repeat-rich membrane-spanning protein"""	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.1433A>G	chr2.hg19:g.8931198T>C	ENSP00000256707:p.Lys478Arg	190.0	0.0		98.0	4.0	NM_020738	A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Missense_Mutation	SNP	ENST00000256707.3	hg19	CCDS42650.1	.	.	.	.	.	.	.	.	.	.	T	28.9	4.959034	0.92726	.	.	ENSG00000134313	ENST00000496383;ENST00000541927;ENST00000256707;ENST00000427284;ENST00000418530;ENST00000473731;ENST00000489024;ENST00000319688	T;T;T;T;T;T;T	0.34275	1.37;1.37;1.37;1.37;1.37;1.37;1.37	5.45	5.45	0.79879	KAP P-loop (1);	0.000000	0.85682	D	0.000000	T	0.60392	0.2265	M	0.71581	2.175	0.80722	D	1	D;D;D;D	0.89917	0.992;1.0;0.999;0.999	D;D;D;D	0.91635	0.987;0.997;0.998;0.999	T	0.64542	-0.6383	10	0.87932	D	0	.	15.8249	0.78690	0.0:0.0:0.0:1.0	.	479;479;436;478	B4DK94;E9PH70;Q9ULH0-2;Q9ULH0	.;.;.;KDIS_HUMAN	R	225;162;478;478;436;478;479;479	ENSP00000420364:K225R;ENSP00000256707:K478R;ENSP00000411849:K478R;ENSP00000414923:K436R;ENSP00000418974:K478R;ENSP00000419964:K479R;ENSP00000319947:K479R	ENSP00000256707:K478R	K	-	2	0	KIDINS220	8848649	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.579000	0.82511	2.194000	0.70268	0.533000	0.62120	AAA	.	.		0.423	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323408.2	NM_020738	
ODC1	4953	hgsc.bcm.edu	37	2	10582278	10582278	+	Missense_Mutation	SNP	G	G	T	rs375952999		TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr2:10582278G>T	ENST00000234111.4	-	9	1283	c.773C>A	c.(772-774)gCg>gAg	p.A258E	ODC1_ENST00000446285.1_5'Flank|ODC1_ENST00000405333.1_Missense_Mutation_p.A258E	NM_002539.1	NP_002530.1	P11926	DCOR_HUMAN	ornithine decarboxylase 1	258					cellular nitrogen compound metabolic process (GO:0034641)|kidney development (GO:0001822)|polyamine metabolic process (GO:0006595)|positive regulation of cell proliferation (GO:0008284)|putrescine biosynthetic process from ornithine (GO:0033387)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|response to virus (GO:0009615)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ornithine decarboxylase activity (GO:0004586)|protein homodimerization activity (GO:0042803)			NS(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(3)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.161)	Spermine(DB00127)	TTTGTCCAACGCTGGGTTGAT	0.458																																					p.A258E		Atlas-SNP	.											ODC1,NS,carcinoma,+1,1	ODC1	40	.	0			c.C773A						.						62.0	64.0	64.0					2																	10582278		2203	4300	6503	SO:0001583	missense	4953	exon9			TCCAACGCTGGGT		CCDS1672.1	2p25	2012-10-02			ENSG00000115758	ENSG00000115758	4.1.1.17		8109	protein-coding gene	gene with protein product		165640					Standard	NM_002539		Approved	ODC	uc002rao.1	P11926	OTTHUMG00000090450	ENST00000234111.4:c.773C>A	chr2.hg19:g.10582278G>T	ENSP00000234111:p.Ala258Glu	177.0	1.0		116.0	5.0	NM_002539	Q53TU3|Q6LDS9	Missense_Mutation	SNP	ENST00000234111.4	hg19	CCDS1672.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.202879	0.79127	.	.	ENSG00000115758	ENST00000234111;ENST00000405333;ENST00000537630	T;T	0.53857	0.6;0.6	5.95	5.95	0.96441	Orn/DAP/Arg decarboxylase 2, N-terminal (1);Alanine racemase/group IV decarboxylase, C-terminal (1);	0.095755	0.64402	D	0.000001	T	0.78585	0.4306	M	0.88570	2.965	0.80722	D	1	D	0.62365	0.991	D	0.70935	0.971	T	0.81031	-0.1117	10	0.72032	D	0.01	.	20.3747	0.98911	0.0:0.0:1.0:0.0	.	258	P11926	DCOR_HUMAN	E	258;258;129	ENSP00000234111:A258E;ENSP00000385333:A258E	ENSP00000234111:A258E	A	-	2	0	ODC1	10499729	1.000000	0.71417	0.939000	0.37840	0.159000	0.22180	7.968000	0.87980	2.817000	0.96982	0.563000	0.77884	GCG	.	.		0.458	ODC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206896.2		
GREB1	9687	hgsc.bcm.edu	37	2	11770126	11770126	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr2:11770126A>G	ENST00000381486.2	+	26	4802	c.4502A>G	c.(4501-4503)gAg>gGg	p.E1501G	GREB1_ENST00000234142.5_Missense_Mutation_p.E1501G|GREB1_ENST00000396123.1_Missense_Mutation_p.E499G	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1501						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		ATGCTAGGAGAGGAGATCCAG	0.587																																					p.E1501G	Ovarian(39;850 945 2785 23371 33093)	Atlas-SNP	.											.	GREB1	308	.	0			c.A4502G						.						131.0	130.0	131.0					2																	11770126		2114	4244	6358	SO:0001583	missense	9687	exon26			TAGGAGAGGAGAT		CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"""gene regulated by estrogen in breast cancer"""	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.4502A>G	chr2.hg19:g.11770126A>G	ENSP00000370896:p.Glu1501Gly	206.0	0.0		116.0	7.0	NM_014668	A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Missense_Mutation	SNP	ENST00000381486.2	hg19	CCDS42655.1	.	.	.	.	.	.	.	.	.	.	A	25.6	4.659369	0.88154	.	.	ENSG00000196208	ENST00000381486;ENST00000234142;ENST00000396123	T;T;T	0.58652	0.32;0.32;0.32	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.75309	0.3832	M	0.74647	2.275	0.80722	D	1	D	0.76494	0.999	D	0.69824	0.966	T	0.78679	-0.2110	10	0.72032	D	0.01	-36.3023	15.6154	0.76764	1.0:0.0:0.0:0.0	.	1501	Q4ZG55	GREB1_HUMAN	G	1501;1501;499	ENSP00000370896:E1501G;ENSP00000234142:E1501G;ENSP00000379429:E499G	ENSP00000234142:E1501G	E	+	2	0	GREB1	11687577	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.993000	0.76245	2.092000	0.63282	0.496000	0.49642	GAG	.	.		0.587	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	NM_014668	
NBAS	51594	hgsc.bcm.edu	37	2	15613387	15613387	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr2:15613387T>C	ENST00000281513.5	-	16	1709	c.1684A>G	c.(1684-1686)Agg>Ggg	p.R562G	NBAS_ENST00000441750.1_Missense_Mutation_p.R562G	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	562					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						GCTGACTTCCTCCACTGCCTC	0.368																																					p.R562G		Atlas-SNP	.											.	NBAS	246	.	0			c.A1684G						.						122.0	112.0	115.0					2																	15613387		2203	4300	6503	SO:0001583	missense	51594	exon16			ACTTCCTCCACTG	BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.1684A>G	chr2.hg19:g.15613387T>C	ENSP00000281513:p.Arg562Gly	145.0	0.0		90.0	5.0	NM_015909	O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Missense_Mutation	SNP	ENST00000281513.5	hg19	CCDS1685.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.985401	0.74474	.	.	ENSG00000151779	ENST00000441750;ENST00000281513	T;T	0.12147	2.71;2.86	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.37183	0.0994	M	0.66939	2.045	0.39949	D	0.974519	D	0.76494	0.999	D	0.80764	0.994	T	0.18967	-1.0320	10	0.87932	D	0	.	16.1699	0.81801	0.0:0.0:0.0:1.0	.	562	A2RRP1	NBAS_HUMAN	G	562	ENSP00000413201:R562G;ENSP00000281513:R562G	ENSP00000281513:R562G	R	-	1	2	NBAS	15530838	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.173000	0.58249	2.217000	0.71921	0.533000	0.62120	AGG	.	.		0.368	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909	
APOB	338	hgsc.bcm.edu	37	2	21247880	21247880	+	Silent	SNP	G	G	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr2:21247880G>T	ENST00000233242.1	-	16	2488	c.2361C>A	c.(2359-2361)gcC>gcA	p.A787A	APOB_ENST00000399256.4_Silent_p.A787A	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	787					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.A787A(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CATGGAGACTGGCAAAACCAA	0.552																																					p.A787A		Atlas-SNP	.											APOB,NS,carcinoma,-1,1	APOB	761	.	1	Substitution - coding silent(1)	lung(1)	c.C2361A						.						88.0	91.0	90.0					2																	21247880		2203	4300	6503	SO:0001819	synonymous_variant	338	exon16			GAGACTGGCAAAA	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.2361C>A	chr2.hg19:g.21247880G>T		79.0	0.0		53.0	3.0	NM_000384	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	ENST00000233242.1	hg19	CCDS1703.1																																																																																			.	.		0.552	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1		
DRC1	92749	hgsc.bcm.edu	37	2	26652560	26652560	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr2:26652560T>C	ENST00000288710.2	+	5	679	c.605T>C	c.(604-606)cTg>cCg	p.L202P		NM_145038.2	NP_659475.2	Q96MC2	DRC1_HUMAN	dynein regulatory complex subunit 1	202					axonemal dynein complex assembly (GO:0070286)|bacterial-type flagellum-dependent cell motility (GO:0071973)|cilium-dependent cell motility (GO:0060285)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)											GACATCTGCCTGCTTCTGGAG	0.423																																					p.L202P		Atlas-SNP	.											.	CCDC164	84	.	0			c.T605C						.						126.0	125.0	126.0					2																	26652560		2203	4300	6503	SO:0001583	missense	92749	exon5			TCTGCCTGCTTCT	AL833892	CCDS1723.1	2p23.3	2014-07-18	2014-07-18	2013-03-14	ENSG00000157856	ENSG00000157856			24245	protein-coding gene	gene with protein product		615288	"""chromosome 2 open reading frame 39"", ""coiled-coil domain containing 164"", ""dynein regulatory complex subunit 1 homolog (Chlamydomonas)"""	C2orf39, CCDC164		23354437	Standard	NM_145038		Approved	MGC16372, FLJ32660, CILD21	uc002rhg.2	Q96MC2	OTTHUMG00000125531	ENST00000288710.2:c.605T>C	chr2.hg19:g.26652560T>C	ENSP00000288710:p.Leu202Pro	137.0	0.0		94.0	4.0	NM_145038	A8K1N8|Q53R91|Q53TA3|Q8NDI5	Missense_Mutation	SNP	ENST00000288710.2	hg19	CCDS1723.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.206193	0.79127	.	.	ENSG00000157856	ENST00000288710	T	0.16597	2.33	5.35	5.35	0.76521	.	0.152498	0.43919	D	0.000503	T	0.43787	0.1263	M	0.83953	2.67	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.38156	-0.9674	10	0.30854	T	0.27	-5.8978	14.3213	0.66489	0.0:0.0:0.0:1.0	.	202	Q96MC2	CC164_HUMAN	P	202	ENSP00000288710:L202P	ENSP00000288710:L202P	L	+	2	0	CCDC164	26506064	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.379000	0.73154	2.027000	0.59764	0.460000	0.39030	CTG	.	.		0.423	DRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246862.1	NM_145038	
AGBL5	60509	hgsc.bcm.edu	37	2	27276891	27276891	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr2:27276891A>G	ENST00000360131.4	+	4	674	c.515A>G	c.(514-516)gAc>gGc	p.D172G	AGBL5_ENST00000323064.8_Missense_Mutation_p.D172G|RP11-503P10.1_ENST00000607407.1_RNA	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	172					protein branching point deglutamylation (GO:0035611)|protein deglutamylation (GO:0035608)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AACCAGCTAGACCAGCGCTTT	0.567																																					p.D172G		Atlas-SNP	.											.	AGBL5	126	.	0			c.A515G						.						172.0	168.0	169.0					2																	27276891		2203	4300	6503	SO:0001583	missense	60509	exon4			AGCTAGACCAGCG	BC007415	CCDS1732.3, CCDS42665.1	2p23.3	2014-06-23			ENSG00000084693	ENSG00000084693			26147	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 5"""	615900				24022482	Standard	NM_001035507		Approved	FLJ21839, CCP5	uc002rie.3	Q8NDL9	OTTHUMG00000128406	ENST00000360131.4:c.515A>G	chr2.hg19:g.27276891A>G	ENSP00000353249:p.Asp172Gly	140.0	0.0		89.0	5.0	NM_021831	A2VDI7|B7WPG9|B7Z7I7|D6W548|Q53SW0|Q53SZ0|Q96IK8|Q9H6V0|Q9H8P8	Missense_Mutation	SNP	ENST00000360131.4	hg19	CCDS1732.3	.	.	.	.	.	.	.	.	.	.	A	20.6	4.018858	0.75275	.	.	ENSG00000084693	ENST00000323064;ENST00000360131	T;T	0.16597	2.37;2.33	5.78	4.62	0.57501	.	0.123176	0.64402	N	0.000001	T	0.39835	0.1093	M	0.76574	2.34	0.53688	D	0.999973	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	T	0.15292	-1.0442	9	.	.	.	-5.3169	10.9433	0.47285	0.9254:0.0:0.0746:0.0	.	172;172;172	Q8NDL9;Q8NDL9-3;Q8NDL9-2	CBPC5_HUMAN;.;.	G	172	ENSP00000323681:D172G;ENSP00000353249:D172G	.	D	+	2	0	AGBL5	27130395	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.749000	0.91619	1.020000	0.39573	0.459000	0.35465	GAC	.	.		0.567	AGBL5-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000309033.1	NM_021831	
PLB1	151056	hgsc.bcm.edu	37	2	28843759	28843759	+	Missense_Mutation	SNP	G	G	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr2:28843759G>T	ENST00000327757.5	+	49	3485	c.3441G>T	c.(3439-3441)aaG>aaT	p.K1147N	PLB1_ENST00000541605.1_Missense_Mutation_p.K112N|PLB1_ENST00000422425.2_Missense_Mutation_p.K1136N	NM_153021.4	NP_694566.4	Q6P1J6	PLB1_HUMAN	phospholipase B1	1147	4 X 308-326 AA approximate repeats.				glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					TTCTGAAGAAGTTCAACCCTT	0.562																																					p.K1147N		Atlas-SNP	.											.	PLB1	255	.	0			c.G3441T						.						100.0	97.0	98.0					2																	28843759		2203	4300	6503	SO:0001583	missense	151056	exon49			GAAGAAGTTCAAC		CCDS33168.1, CCDS54340.1	2p23.3	2014-03-14			ENSG00000163803	ENSG00000163803	3.1.1.4, 3.1.1.5		30041	protein-coding gene	gene with protein product		610179				12150957	Standard	NM_153021		Approved	PLB, FLJ30866	uc002rmb.2	Q6P1J6	OTTHUMG00000152014	ENST00000327757.5:c.3441G>T	chr2.hg19:g.28843759G>T	ENSP00000330442:p.Lys1147Asn	124.0	0.0		57.0	4.0	NM_153021	A8KAX2|Q53S03|Q8IUP7|Q96DP9	Missense_Mutation	SNP	ENST00000327757.5	hg19	CCDS33168.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.65|18.65	3.668687|3.668687	0.67814|0.67814	.|.	.|.	ENSG00000163803|ENSG00000163803	ENST00000327757;ENST00000422425;ENST00000541605|ENST00000404858	T;T;T|.	0.14266|.	2.52;2.52;2.52|.	5.65|5.65	3.61|3.61	0.41365|0.41365	Esterase, SGNH hydrolase-type (1);Esterase, SGNH hydrolase-type, subgroup (1);Lipase, GDSL (1);|.	0.062853|.	0.64402|.	D|.	0.000012|.	T|T	0.69333|0.69333	0.3099|0.3099	M|M	0.86573|0.86573	2.825|2.825	0.40556|0.40556	D|D	0.981162|0.981162	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	0.999;1.0|.	T|T	0.71494|0.71494	-0.4576|-0.4576	10|5	0.34782|.	T|.	0.22|.	-27.5428|-27.5428	5.4347|5.4347	0.16474|0.16474	0.2731:0.0:0.7269:0.0|0.2731:0.0:0.7269:0.0	.|.	1136;1147|.	Q6P1J6-3;Q6P1J6|.	.;PLB1_HUMAN|.	N|I	1147;1136;112|1135	ENSP00000330442:K1147N;ENSP00000416440:K1136N;ENSP00000437426:K112N|.	ENSP00000330442:K1147N|.	K|S	+|+	3|2	2|0	PLB1|PLB1	28697263|28697263	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	1.986000|1.986000	0.40677|0.40677	1.410000|1.410000	0.46936|0.46936	0.556000|0.556000	0.70494|0.70494	AAG|AGT	.	.		0.562	PLB1-012	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353348.2		
CRIM1	51232	hgsc.bcm.edu	37	2	36771541	36771541	+	Silent	SNP	C	C	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr2:36771541C>A	ENST00000280527.2	+	15	3013	c.2646C>A	c.(2644-2646)acC>acA	p.T882T	AC007401.2_ENST00000406220.1_Intron	NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	882					insulin-like growth factor receptor signaling pathway (GO:0048009)|nervous system development (GO:0007399)|regulation of cell growth (GO:0001558)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	insulin-like growth factor-activated receptor activity (GO:0005010)|PDZ domain binding (GO:0030165)|serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				CAGAACCAACCAATATACCCA	0.438																																					p.T882T		Atlas-SNP	.											.	CRIM1	88	.	0			c.C2646A						.						129.0	128.0	128.0					2																	36771541		2203	4300	6503	SO:0001819	synonymous_variant	51232	exon15			ACCAACCAATATA	AF168681	CCDS1783.1	2p21	2010-06-29	2005-07-25		ENSG00000150938	ENSG00000150938			2359	protein-coding gene	gene with protein product		606189	"""cysteine-rich motor neuron 1"""	S52		10642437	Standard	NM_016441		Approved		uc002rpd.3	Q9NZV1	OTTHUMG00000099419	ENST00000280527.2:c.2646C>A	chr2.hg19:g.36771541C>A		119.0	0.0		90.0	5.0	NM_016441	Q2M2G4|Q59GH0|Q7LCQ5|Q9H318	Silent	SNP	ENST00000280527.2	hg19	CCDS1783.1																																																																																			.	.		0.438	CRIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216878.2	NM_016441	
HEATR5B	54497	hgsc.bcm.edu	37	2	37227915	37227915	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr2:37227915T>C	ENST00000233099.5	-	33	5454	c.5359A>G	c.(5359-5361)Aga>Gga	p.R1787G	HEATR5B_ENST00000354531.2_Missense_Mutation_p.R1698G	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1787						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				TTCAATATTCTTGCAATTAAG	0.363																																					p.R1787G		Atlas-SNP	.											.	HEATR5B	185	.	0			c.A5359G						.						92.0	101.0	98.0					2																	37227915		2203	4300	6503	SO:0001583	missense	54497	exon33			ATATTCTTGCAAT	AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.5359A>G	chr2.hg19:g.37227915T>C	ENSP00000233099:p.Arg1787Gly	174.0	0.0		100.0	4.0	NM_019024	B5MDU8|Q7Z3B2|Q9NVL7	Missense_Mutation	SNP	ENST00000233099.5	hg19	CCDS33181.1	.	.	.	.	.	.	.	.	.	.	T	3.318	-0.139332	0.06669	.	.	ENSG00000008869	ENST00000233099;ENST00000354531	T;T	0.65364	1.18;-0.15	5.03	5.03	0.67393	Armadillo-like helical (1);Armadillo-type fold (1);	0.047823	0.85682	D	0.000000	T	0.21761	0.0524	N	0.00272	-1.73	0.24303	N	0.995111	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.19353	-1.0308	10	0.02654	T	1	-19.8367	11.4357	0.50066	0.0:0.0:0.1508:0.8492	.	1787;1787	Q9P2D3;B9EK47	HTR5B_HUMAN;.	G	1787;1698	ENSP00000233099:R1787G;ENSP00000346531:R1698G	ENSP00000233099:R1787G	R	-	1	2	HEATR5B	37081419	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.429000	0.44758	1.887000	0.54652	0.482000	0.46254	AGA	.	.		0.363	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1	NM_019024	
DHX57	90957	hgsc.bcm.edu	37	2	39042772	39042772	+	Missense_Mutation	SNP	A	A	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr2:39042772A>T	ENST00000295373.6	-	20	3623	c.3497T>A	c.(3496-3498)tTc>tAc	p.F1166Y		NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	1166							ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				CAGTTCCGTGAATTGTCGTTT	0.438																																					p.F1166Y	Melanoma(191;1090 2095 4375 23729 47341)	Atlas-SNP	.											.	DHX57	127	.	0			c.T3497A						.						141.0	133.0	136.0					2																	39042772		2203	4300	6503	SO:0001583	missense	90957	exon20			TCCGTGAATTGTC	AF070590	CCDS1800.1	2p22.3	2008-02-05			ENSG00000163214	ENSG00000163214		"""DEAH-boxes"""	20086	protein-coding gene	gene with protein product							Standard	NM_198963		Approved	DDX57	uc002rrf.3	Q6P158	OTTHUMG00000102103	ENST00000295373.6:c.3497T>A	chr2.hg19:g.39042772A>T	ENSP00000295373:p.Phe1166Tyr	159.0	0.0		95.0	14.0	NM_198963	A2RRC7|Q53SI4|Q6P9G1|Q7Z6H3|Q8NG17|Q96M33	Missense_Mutation	SNP	ENST00000295373.6	hg19	CCDS1800.1	.	.	.	.	.	.	.	.	.	.	A	17.07	3.294992	0.60086	.	.	ENSG00000163214	ENST00000295373	T	0.03035	4.07	5.29	5.29	0.74685	Domain of unknown function DUF1605 (1);	0.000000	0.56097	D	0.000026	T	0.09423	0.0232	L	0.28054	0.825	0.80722	D	1	D;B	0.76494	0.999;0.309	D;B	0.80764	0.994;0.23	T	0.50642	-0.8804	10	0.22109	T	0.4	.	15.5408	0.76043	1.0:0.0:0.0:0.0	.	1166;558	Q6P158;Q59G60	DHX57_HUMAN;.	Y	1166	ENSP00000295373:F1166Y	ENSP00000295373:F1166Y	F	-	2	0	DHX57	38896276	1.000000	0.71417	1.000000	0.80357	0.714000	0.41099	8.843000	0.92142	2.120000	0.65058	0.460000	0.39030	TTC	.	.		0.438	DHX57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219940.2	NM_145646	
CAMKMT	79823	hgsc.bcm.edu	37	2	44931461	44931461	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr2:44931461T>C	ENST00000378494.3	+	4	460	c.416T>C	c.(415-417)cTc>cCc	p.L139P		NM_024766.4	NP_079042.1	Q7Z624	CMKMT_HUMAN	calmodulin-lysine N-methyltransferase	139						Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	calmodulin-lysine N-methyltransferase activity (GO:0018025)			breast(2)|large_intestine(3)|lung(5)	10						TACTACTGCCTCAAGCACAAT	0.343																																					p.L139P		Atlas-SNP	.											.	CAMKMT	20	.	0			c.T416C						.						97.0	93.0	95.0					2																	44931461		2203	4300	6503	SO:0001583	missense	79823	exon4			ACTGCCTCAAGCA		CCDS1820.1	2p21	2011-06-22	2011-03-10	2011-03-10	ENSG00000143919	ENSG00000143919	2.1.1.60		26276	protein-coding gene	gene with protein product	"""CaM KMT"""	609559	"""chromosome 2 open reading frame 34"""	C2orf34		20975703	Standard	NM_024766		Approved	CLNMT	uc002rum.3	Q7Z624	OTTHUMG00000128761	ENST00000378494.3:c.416T>C	chr2.hg19:g.44931461T>C	ENSP00000367755:p.Leu139Pro	104.0	0.0		85.0	4.0	NM_024766	Q4ZG15|Q53SS6|Q8N6P5|Q9H5G8	Missense_Mutation	SNP	ENST00000378494.3	hg19	CCDS1820.1	.	.	.	.	.	.	.	.	.	.	T	18.12	3.553946	0.65425	.	.	ENSG00000143919	ENST00000378494	T	0.07327	3.2	5.08	5.08	0.68730	.	0.070287	0.64402	D	0.000016	T	0.32526	0.0832	M	0.85859	2.78	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	T	0.14980	-1.0453	10	0.56958	D	0.05	-1.1434	15.1728	0.72888	0.0:0.0:0.0:1.0	.	139	Q7Z624	CMKMT_HUMAN	P	139	ENSP00000367755:L139P	ENSP00000367755:L139P	L	+	2	0	CAMKMT	44784965	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	6.879000	0.75572	2.040000	0.60383	0.477000	0.44152	CTC	.	.		0.343	CAMKMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250678.2	NM_024766	
EPCAM	4072	hgsc.bcm.edu	37	2	47600664	47600664	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr2:47600664C>T	ENST00000263735.4	+	2	497	c.139C>T	c.(139-141)Cag>Tag	p.Q47*	EPCAM_ENST00000405271.1_Nonsense_Mutation_p.Q75*	NM_002354.2	NP_002345.2	P16422	EPCAM_HUMAN	epithelial cell adhesion molecule	47					negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|positive regulation of cell proliferation (GO:0008284)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction involved in regulation of gene expression (GO:0023019)|stem cell differentiation (GO:0048863)|ureteric bud development (GO:0001657)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	protein complex binding (GO:0032403)	p.0?(2)|p.?(1)		endometrium(3)|large_intestine(1)|liver(2)|lung(7)|skin(1)|stomach(1)	15						TCGTCAATGCCAGTGTACTTC	0.318																																					p.Q47X		Atlas-SNP	.											.	EPCAM	27	.	3	Whole gene deletion(2)|Unknown(1)	haematopoietic_and_lymphoid_tissue(3)	c.C139T						.						96.0	90.0	92.0					2																	47600664		2203	4300	6503	SO:0001587	stop_gained	4072	exon2			CAATGCCAGTGTA	M33011	CCDS1833.1	2p21	2014-09-17	2008-12-16	2008-12-16	ENSG00000119888	ENSG00000119888		"""CD molecules"""	11529	protein-coding gene	gene with protein product		185535	"""antigen identified by monoclonal antibody AUA1"", ""tumor-associated calcium signal transducer 1"""	M4S1, MIC18, TACSTD1		8382772, 11306819	Standard	NM_002354		Approved	Ly74, TROP1, GA733-2, EGP34, EGP40, EGP-2, KSA, CD326, Ep-CAM, HEA125, KS1/4, MK-1, MH99, MOC31, 323/A3, 17-1A, TACST-1, CO-17A, ESA	uc002rvx.3	P16422	OTTHUMG00000128853	ENST00000263735.4:c.139C>T	chr2.hg19:g.47600664C>T	ENSP00000263735:p.Gln47*	135.0	0.0		94.0	4.0	NM_002354	P18180|Q6FG26|Q6FG49|Q96C47|Q9UCD0	Nonsense_Mutation	SNP	ENST00000263735.4	hg19	CCDS1833.1	.	.	.	.	.	.	.	.	.	.	C	15.45	2.837418	0.50951	.	.	ENSG00000119888	ENST00000405271;ENST00000263735;ENST00000419334	.	.	.	4.93	3.08	0.35506	.	0.809444	0.11817	N	0.526590	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	-5.2619	9.6234	0.39734	0.1547:0.6805:0.1648:0.0	.	.	.	.	X	75;47;123	.	ENSP00000263735:Q47X	Q	+	1	0	EPCAM	47454168	0.997000	0.39634	1.000000	0.80357	0.354000	0.29330	0.925000	0.28791	0.635000	0.30488	0.655000	0.94253	CAG	.	.		0.318	EPCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250792.2		
SPTBN1	6711	hgsc.bcm.edu	37	2	54871648	54871648	+	Silent	SNP	C	C	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr2:54871648C>A	ENST00000356805.4	+	20	4475	c.4194C>A	c.(4192-4194)ggC>ggA	p.G1398G	SPTBN1_ENST00000333896.5_Silent_p.G1385G	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	1398					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			GGCTGCACGGCCTGGAGAGTC	0.498																																					p.G1398G		Atlas-SNP	.											.	SPTBN1	378	.	0			c.C4194A						.						87.0	84.0	85.0					2																	54871648		2203	4300	6503	SO:0001819	synonymous_variant	6711	exon20			GCACGGCCTGGAG		CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"""Pleckstrin homology (PH) domain containing"""	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.4194C>A	chr2.hg19:g.54871648C>A		201.0	0.0		91.0	4.0	NM_003128	B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Silent	SNP	ENST00000356805.4	hg19	CCDS33198.1																																																																																			.	.		0.498	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3		
SMEK2	57223	hgsc.bcm.edu	37	2	55844327	55844327	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr2:55844327A>G	ENST00000345102.5	-	1	396	c.95T>C	c.(94-96)gTg>gCg	p.V32A	SMEK2_ENST00000477749.1_5'UTR|RP11-554J4.1_ENST00000608113.1_RNA|SMEK2_ENST00000407823.3_Missense_Mutation_p.V32A|SMEK2_ENST00000272313.5_Missense_Mutation_p.V32A	NM_001122964.1	NP_001116436	Q5MIZ7	P4R3B_HUMAN	SMEK homolog 2, suppressor of mek1 (Dictyostelium)	32	WH1.				positive regulation of gluconeogenesis (GO:0045722)|protein dephosphorylation (GO:0006470)|regulation of lipid metabolic process (GO:0019216)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|protein phosphatase 4 complex (GO:0030289)				kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GAGCTCCTCCACGTAAGTGGA	0.602																																					p.V32A		Atlas-SNP	.											.	SMEK2	86	.	0			c.T95C						.						71.0	66.0	67.0					2																	55844327		2203	4300	6503	SO:0001583	missense	57223	exon1			TCCTCCACGTAAG	AB037808	CCDS1855.1, CCDS46289.1, CCDS62913.1	2p16.1	2008-09-15			ENSG00000138041				29267	protein-coding gene	gene with protein product		610352				16085932, 18614045	Standard	NM_001122964		Approved	PSY2, FLFL2, KIAA1387, FLJ31474	uc002rzc.3	Q5MIZ7	OTTHUMG00000129336	ENST00000345102.5:c.95T>C	chr2.hg19:g.55844327A>G	ENSP00000339769:p.Val32Ala	175.0	0.0		122.0	5.0	NM_001122964	Q6P9B0|Q86XB8|Q9BQJ0|Q9BRK2|Q9H913|Q9P2G0	Missense_Mutation	SNP	ENST00000345102.5	hg19	CCDS46289.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.272377	0.80580	.	.	ENSG00000138041	ENST00000272313;ENST00000407823;ENST00000345102	T;T;T	0.41400	1.0;1.0;1.0	5.19	5.19	0.71726	Pleckstrin homology-type (1);	0.056112	0.64402	D	0.000001	T	0.57489	0.2057	L	0.59436	1.845	0.80722	D	1	P;D;P	0.69078	0.845;0.997;0.925	P;D;P	0.68943	0.561;0.961;0.79	T	0.52193	-0.8608	10	0.20519	T	0.43	-6.8952	15.2232	0.73330	1.0:0.0:0.0:0.0	.	32;32;32	Q5MIZ7-2;Q5MIZ7;Q5MIZ7-3	.;P4R3B_HUMAN;.	A	32	ENSP00000272313:V32A;ENSP00000385912:V32A;ENSP00000339769:V32A	ENSP00000272313:V32A	V	-	2	0	SMEK2	55697831	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.761000	0.91691	2.184000	0.69523	0.533000	0.62120	GTG	.	.		0.602	SMEK2-002	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251483.1	NM_020463	
USP34	9736	hgsc.bcm.edu	37	2	61505341	61505341	+	Missense_Mutation	SNP	C	C	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr2:61505341C>T	ENST00000398571.2	-	41	5468	c.5392G>A	c.(5392-5394)Gtt>Att	p.V1798I		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	1798					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TTGTGTTTAACAACACTTGTT	0.338																																					p.V1798I		Atlas-SNP	.											.	USP34	334	.	0			c.G5392A						.						95.0	84.0	87.0					2																	61505341		1874	4100	5974	SO:0001583	missense	9736	exon41			GTTTAACAACACT	AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.5392G>A	chr2.hg19:g.61505341C>T	ENSP00000381577:p.Val1798Ile	131.0	0.0		85.0	4.0	NM_014709	A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	ENST00000398571.2	hg19	CCDS42686.1	.	.	.	.	.	.	.	.	.	.	T	4.121	0.020752	0.08006	.	.	ENSG00000115464	ENST00000263989;ENST00000398569;ENST00000398571;ENST00000453734	T;T	0.03801	4.03;3.8	5.48	4.32	0.51571	.	0.217163	0.45867	N	0.000322	T	0.03348	0.0097	L	0.27053	0.805	0.22552	N	0.998999	B	0.02656	0.0	B	0.01281	0.0	T	0.48281	-0.9049	10	0.08599	T	0.76	.	8.1971	0.31402	0.0:0.2246:0.0:0.7754	.	1798	Q70CQ2	UBP34_HUMAN	I	1646;1646;1798;76	ENSP00000381577:V1798I;ENSP00000410559:V76I	ENSP00000263989:V1646I	V	-	1	0	USP34	61358845	1.000000	0.71417	0.996000	0.52242	0.905000	0.53344	2.722000	0.47269	0.373000	0.24621	-0.360000	0.07572	GTT	.	.		0.338	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4		
CYP26B1	56603	hgsc.bcm.edu	37	2	72359670	72359670	+	Missense_Mutation	SNP	C	C	T	rs370211150		TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr2:72359670C>T	ENST00000001146.2	-	6	1428	c.1225G>A	c.(1225-1227)Gtg>Atg	p.V409M	CYP26B1_ENST00000412253.1_Missense_Mutation_p.V218M|CYP26B1_ENST00000546307.1_Missense_Mutation_p.V334M	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily B, polypeptide 1	409					bone morphogenesis (GO:0060349)|cell fate determination (GO:0001709)|cellular response to retinoic acid (GO:0071300)|cornification (GO:0070268)|embryonic limb morphogenesis (GO:0030326)|establishment of skin barrier (GO:0061436)|male meiosis (GO:0007140)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|oxidation-reduction process (GO:0055114)|positive regulation of gene expression (GO:0010628)|positive regulation of tongue muscle cell differentiation (GO:2001037)|proximal/distal pattern formation (GO:0009954)|retinoic acid catabolic process (GO:0034653)|retinoic acid receptor signaling pathway (GO:0048384)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|tongue morphogenesis (GO:0043587)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|retinoic acid 4-hydroxylase activity (GO:0008401)|retinoic acid binding (GO:0001972)			breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						AACACGTTCACGTCTTTGAAC	0.617																																					p.V409M		Atlas-SNP	.											.	CYP26B1	73	.	0			c.G1225A						.	C	MET/VAL	0,4406		0,0,2203	49.0	43.0	45.0		1225	5.1	1.0	2		45	1,8599	1.2+/-3.3	0,1,4299	no	missense	CYP26B1	NM_019885.2	21	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	409/513	72359670	1,13005	2203	4300	6503	SO:0001583	missense	56603	exon6			CGTTCACGTCTTT		CCDS1919.1, CCDS62934.1	2p12	2006-11-24			ENSG00000003137	ENSG00000003137		"""Cytochrome P450s"""	20581	protein-coding gene	gene with protein product		605207				10545224	Standard	NM_019885		Approved	P450RAI-2	uc002sih.2	Q9NR63	OTTHUMG00000129756	ENST00000001146.2:c.1225G>A	chr2.hg19:g.72359670C>T	ENSP00000001146:p.Val409Met	206.0	0.0		119.0	5.0	NM_019885	B2R8M7|B7Z2K6|B7Z2P4|B7Z3B8|E4W5W7|Q32MC0|Q53TW1|Q9NP41	Missense_Mutation	SNP	ENST00000001146.2	hg19	CCDS1919.1	.	.	.	.	.	.	.	.	.	.	C	19.48	3.835394	0.71373	0.0	1.16E-4	ENSG00000003137	ENST00000001146;ENST00000412253;ENST00000546307	T;T;T	0.68331	-0.32;-0.32;-0.32	5.12	5.12	0.69794	.	0.120924	0.56097	D	0.000034	T	0.60261	0.2255	L	0.28192	0.835	0.80722	D	1	B;B;B	0.32031	0.352;0.304;0.304	B;B;B	0.37047	0.24;0.227;0.227	T	0.64028	-0.6503	10	0.87932	D	0	-14.8495	17.6654	0.88201	0.0:1.0:0.0:0.0	.	334;392;409	B7Z2K6;B7Z2P4;Q9NR63	.;.;CP26B_HUMAN	M	409;218;334	ENSP00000001146:V409M;ENSP00000401465:V218M;ENSP00000443304:V334M	ENSP00000001146:V409M	V	-	1	0	CYP26B1	72213178	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	3.667000	0.54547	2.837000	0.97791	0.655000	0.94253	GTG	.	.		0.617	CYP26B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251969.1	NM_019885	
SMYD5	10322	hgsc.bcm.edu	37	2	73446019	73446019	+	Missense_Mutation	SNP	C	C	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr2:73446019C>T	ENST00000389501.4	+	2	172	c.127C>T	c.(127-129)Cgg>Tgg	p.R43W	SMYD5_ENST00000474652.1_3'UTR	NM_006062.2	NP_006053.2	Q6GMV2	SMYD5_HUMAN	SMYD family member 5	43	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.						metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13						ACAGCTCATCCGGAAGGGGGA	0.547																																					p.R43W		Atlas-SNP	.											.	SMYD5	58	.	0			c.C127T						.						92.0	92.0	92.0					2																	73446019		1967	4151	6118	SO:0001583	missense	10322	exon2			CTCATCCGGAAGG	U50383	CCDS33221.2	2p12	2007-02-09	2003-05-14	2003-05-16	ENSG00000135632	ENSG00000135632		"""Zinc fingers, MYND-type"""	16258	protein-coding gene	gene with protein product			"""retinoic acid induced 15"""	RAI15		8754834	Standard	NM_006062		Approved	RRG1, NN8-4AG, ZMYND23	uc002siw.2	Q6GMV2	OTTHUMG00000150482	ENST00000389501.4:c.127C>T	chr2.hg19:g.73446019C>T	ENSP00000374152:p.Arg43Trp	224.0	0.0		124.0	6.0	NM_006062	D6W5H3|Q13558	Missense_Mutation	SNP	ENST00000389501.4	hg19	CCDS33221.2	.	.	.	.	.	.	.	.	.	.	C	21.0	4.079060	0.76528	.	.	ENSG00000135632	ENST00000389501;ENST00000443900	D;T	0.81908	-1.55;0.9	5.47	3.49	0.39957	SET domain (2);	0.377311	0.28203	N	0.016215	D	0.86142	0.5862	L	0.54323	1.7	0.39477	D	0.967826	D	0.69078	0.997	P	0.57846	0.828	D	0.88311	0.2956	10	0.87932	D	0	-5.499	13.518	0.61551	0.0:0.7017:0.2983:0.0	.	43	Q6GMV2	SMYD5_HUMAN	W	43;16	ENSP00000374152:R43W;ENSP00000412587:R16W	ENSP00000258100:R43W	R	+	1	2	SMYD5	73299527	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.919000	0.40015	1.360000	0.45960	0.650000	0.86243	CGG	.	.		0.547	SMYD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318301.1	NM_006062	
TET3	200424	hgsc.bcm.edu	37	2	74274104	74274104	+	Silent	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr2:74274104T>C	ENST00000409262.3	+	1	655	c.655T>C	c.(655-657)Ttg>Ctg	p.L219L		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	219					DNA demethylation (GO:0080111)|DNA demethylation of male pronucleus (GO:0044727)|histone H3-K4 trimethylation (GO:0080182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methylcytosine dioxygenase activity (GO:0070579)			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AAACATCAGCTTGCAGACCGC	0.617																																					p.L219L		Atlas-SNP	.											.	TET3	101	.	0			c.T655C						.						40.0	44.0	43.0					2																	74274104		2072	4210	6282	SO:0001819	synonymous_variant	200424	exon1			ATCAGCTTGCAGA		CCDS46339.1, CCDS46339.2	2p13.1	2011-09-30	2011-09-30		ENSG00000187605	ENSG00000187605			28313	protein-coding gene	gene with protein product		613555	"""tet oncogene family member 3"""			9455477	Standard	XM_005264187		Approved	MGC22014, hCG_40738	uc031roi.1	O43151	OTTHUMG00000152823	ENST00000409262.3:c.655T>C	chr2.hg19:g.74274104T>C		157.0	0.0		112.0	5.0	NM_144993	A6NEI3|Q86Z24|Q8TBM9	Silent	SNP	ENST00000409262.3	hg19	CCDS46339.1																																																																																			.	.		0.617	TET3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328141.4		
TET3	200424	hgsc.bcm.edu	37	2	74328880	74328880	+	Silent	SNP	C	C	T	rs530313290		TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr2:74328880C>T	ENST00000409262.3	+	9	4560	c.4560C>T	c.(4558-4560)gcC>gcT	p.A1520A		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	1520					DNA demethylation (GO:0080111)|DNA demethylation of male pronucleus (GO:0044727)|histone H3-K4 trimethylation (GO:0080182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methylcytosine dioxygenase activity (GO:0070579)			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GCGGCGTGGCCGTGGCCCCAG	0.667																																					p.A1520A		Atlas-SNP	.											TET3,NS,carcinoma,0,1	TET3	101	.	0			c.C4560T						.						36.0	44.0	41.0					2																	74328880		2088	4200	6288	SO:0001819	synonymous_variant	200424	exon9			CGTGGCCGTGGCC		CCDS46339.1, CCDS46339.2	2p13.1	2011-09-30	2011-09-30		ENSG00000187605	ENSG00000187605			28313	protein-coding gene	gene with protein product		613555	"""tet oncogene family member 3"""			9455477	Standard	XM_005264187		Approved	MGC22014, hCG_40738	uc031roi.1	O43151	OTTHUMG00000152823	ENST00000409262.3:c.4560C>T	chr2.hg19:g.74328880C>T		61.0	0.0		42.0	2.0	NM_144993	A6NEI3|Q86Z24|Q8TBM9	Silent	SNP	ENST00000409262.3	hg19	CCDS46339.1																																																																																			.	.		0.667	TET3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328141.4		
TTC31	64427	hgsc.bcm.edu	37	2	74719856	74719856	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr2:74719856C>A	ENST00000233623.5	+	12	1252	c.1245C>A	c.(1243-1245)tgC>tgA	p.C415*	TTC31_ENST00000442235.2_Intron|TTC31_ENST00000410003.1_3'UTR	NM_022492.4	NP_071937.4	Q49AM3	TTC31_HUMAN	tetratricopeptide repeat domain 31	415										breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						TCCGCTCTTGCCTTCTCCACC	0.602																																					p.C415X		Atlas-SNP	.											.	TTC31	23	.	0			c.C1245A						.						46.0	49.0	48.0					2																	74719856		1966	4149	6115	SO:0001587	stop_gained	64427	exon12			CTCTTGCCTTCTC	AK026819	CCDS42701.1	2p13.1	2013-01-11			ENSG00000115282	ENSG00000115282		"""Tetratricopeptide (TTC) repeat domain containing"""	25759	protein-coding gene	gene with protein product						12477932	Standard	NM_022492		Approved	FLJ12788	uc002slt.2	Q49AM3	OTTHUMG00000152887	ENST00000233623.5:c.1245C>A	chr2.hg19:g.74719856C>A	ENSP00000233623:p.Cys415*	158.0	0.0		63.0	4.0	NM_022492	Q4KN40|Q53FD4|Q9H9F7	Nonsense_Mutation	SNP	ENST00000233623.5	hg19	CCDS42701.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.97|14.97	2.694982|2.694982	0.48202|0.48202	.|.	.|.	ENSG00000115282|ENSG00000115282	ENST00000414247|ENST00000233623	.|.	.|.	.|.	3.99|3.99	0.862|0.862	0.19056|0.19056	.|.	.|0.403279	.|0.24497	.|N	.|0.038016	T|.	0.24928|.	0.0605|.	.|.	.|.	.|.	0.51767|0.51767	D|D	0.999938|0.999938	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.22521|.	-1.0214|.	4|.	.|0.02654	.|T	.|1	.|.	6.0987|6.0987	0.20035|0.20035	0.0:0.6044:0.0:0.3956|0.0:0.6044:0.0:0.3956	.|.	.|.	.|.	.|.	D|X	143|415	.|.	.|ENSP00000233623:C415X	A|C	+|+	2|3	0|2	TTC31|TTC31	74573364|74573364	0.890000|0.890000	0.30428|0.30428	0.342000|0.342000	0.25602|0.25602	0.986000|0.986000	0.74619|0.74619	0.608000|0.608000	0.24223|0.24223	-0.070000|-0.070000	0.12908|0.12908	0.491000|0.491000	0.48974|0.48974	GCC|TGC	.	.		0.602	TTC31-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328422.1	NM_022492	
LOXL3	84695	hgsc.bcm.edu	37	2	74761507	74761507	+	Silent	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr2:74761507A>G	ENST00000264094.3	-	11	1946	c.1875T>C	c.(1873-1875)aaT>aaC	p.N625N	LOXL3_ENST00000393937.2_Silent_p.N480N|LOXL3_ENST00000409986.1_Silent_p.N480N|LOXL3_ENST00000409249.1_Intron|LOXL3_ENST00000409549.1_Silent_p.N569N	NM_032603.2	NP_115992.1	P58215	LOXL3_HUMAN	lysyl oxidase-like 3	625	Lysyl-oxidase like.				epithelial to mesenchymal transition (GO:0001837)|negative regulation of transcription, DNA-templated (GO:0045892)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)|nucleus (GO:0005634)	copper ion binding (GO:0005507)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)			endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						CCTTGGTGCCATTTGGGGTGA	0.512																																					p.N625N		Atlas-SNP	.											.	LOXL3	73	.	0			c.T1875C						.						201.0	193.0	195.0					2																	74761507		2203	4300	6503	SO:0001819	synonymous_variant	84695	exon11			GGTGCCATTTGGG	AF282619	CCDS1953.1, CCDS74527.1	2p13	2008-05-23			ENSG00000115318	ENSG00000115318			13869	protein-coding gene	gene with protein product		607163				11386757	Standard	NM_032603		Approved		uc002smp.1	P58215	OTTHUMG00000129953	ENST00000264094.3:c.1875T>C	chr2.hg19:g.74761507A>G		435.0	0.0		287.0	64.0	NM_032603	D6W5J1|Q2EHP2|Q6IPL7|Q96RS1	Silent	SNP	ENST00000264094.3	hg19	CCDS1953.1																																																																																			.	.		0.512	LOXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252215.1	NM_032603	
LRRTM4	80059	hgsc.bcm.edu	37	2	77746328	77746328	+	Missense_Mutation	SNP	C	C	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr2:77746328C>A	ENST00000409093.1	-	3	1003	c.667G>T	c.(667-669)Gct>Tct	p.A223S	LRRTM4_ENST00000409088.3_Missense_Mutation_p.A223S|LRRTM4_ENST00000409282.1_Missense_Mutation_p.A224S|LRRTM4_ENST00000409884.1_Missense_Mutation_p.A223S|LRRTM4_ENST00000409911.1_Missense_Mutation_p.A224S			Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	223					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|regulation of presynaptic membrane organization (GO:1901629)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		GGAAAATGAGCAAAGTTGATC	0.448																																					p.A223S		Atlas-SNP	.											LRRTM4_ENST00000409093,NS,carcinoma,0,2	LRRTM4	334	.	0			c.G667T						.						66.0	65.0	65.0					2																	77746328		1880	4113	5993	SO:0001583	missense	80059	exon3			AATGAGCAAAGTT	AK122612	CCDS46346.1, CCDS46347.1, CCDS74530.1	2p12	2008-02-05			ENSG00000176204	ENSG00000176204			19411	protein-coding gene	gene with protein product		610870				12676565	Standard	NM_024993		Approved	FLJ12568	uc002snr.3	Q86VH4	OTTHUMG00000152842	ENST00000409093.1:c.667G>T	chr2.hg19:g.77746328C>A	ENSP00000386357:p.Ala223Ser	89.0	0.0		76.0	4.0	NM_024993	Q4FZ98|Q6UXJ7	Missense_Mutation	SNP	ENST00000409093.1	hg19	CCDS46346.1	.	.	.	.	.	.	.	.	.	.	C	11.18	1.562264	0.27915	.	.	ENSG00000176204	ENST00000409911;ENST00000409884;ENST00000409093;ENST00000409088;ENST00000409282	T;T;T;T;T	0.04119	3.7;3.7;3.7;3.7;3.7	5.72	5.72	0.89469	.	0.114600	0.64402	D	0.000015	T	0.03959	0.0111	N	0.11255	0.115	0.51767	D	0.999937	B;B;B	0.26512	0.058;0.036;0.151	B;B;B	0.25506	0.028;0.061;0.047	T	0.57201	-0.7852	10	0.23891	T	0.37	.	18.4529	0.90710	0.0:1.0:0.0:0.0	.	224;223;223	Q4KMX1;Q86VH4-2;Q86VH4	.;.;LRRT4_HUMAN	S	224;223;223;223;224	ENSP00000387228:A224S;ENSP00000387297:A223S;ENSP00000386357:A223S;ENSP00000386236:A223S;ENSP00000386286:A224S	ENSP00000386236:A223S	A	-	1	0	LRRTM4	77599836	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.212000	0.42835	2.689000	0.91719	0.655000	0.94253	GCT	.	.		0.448	LRRTM4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328225.1	NM_024993	
TCF7L1	83439	hgsc.bcm.edu	37	2	85533589	85533589	+	Silent	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr2:85533589T>C	ENST00000282111.3	+	10	1439	c.1164T>C	c.(1162-1164)tcT>tcC	p.S388S		NM_031283.2	NP_112573.1	Q9HCS4	TF7L1_HUMAN	transcription factor 7-like 1 (T-cell specific, HMG-box)	388					anterior/posterior axis specification, embryo (GO:0008595)|axial mesoderm morphogenesis (GO:0048319)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|chromatin organization (GO:0006325)|generation of neurons (GO:0048699)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1)	18						ACAACCTGTCTCGAGAAGAAC	0.612																																					p.S388S		Atlas-SNP	.											.	TCF7L1	44	.	0			c.T1164C						.						84.0	77.0	80.0					2																	85533589		2203	4300	6503	SO:0001819	synonymous_variant	83439	exon10			CCTGTCTCGAGAA	X62870	CCDS1971.1	2p11.2	2008-02-05			ENSG00000152284	ENSG00000152284			11640	protein-coding gene	gene with protein product		604652		TCF3		1741298, 11085512	Standard	NM_031283		Approved		uc002soy.3	Q9HCS4	OTTHUMG00000130026	ENST00000282111.3:c.1164T>C	chr2.hg19:g.85533589T>C		124.0	0.0		95.0	4.0	NM_031283	Q53R97|Q6PD70|Q9NP00	Silent	SNP	ENST00000282111.3	hg19	CCDS1971.1																																																																																			.	.		0.612	TCF7L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252301.2	NM_031283	
POLR1A	25885	hgsc.bcm.edu	37	2	86332884	86332884	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr2:86332884T>C	ENST00000263857.6	-	1	394	c.16A>G	c.(16-18)Aac>Gac	p.N6D	POLR1A_ENST00000409681.1_Missense_Mutation_p.N6D|PTCD3_ENST00000409277.3_5'Flank|PTCD3_ENST00000254630.7_5'Flank			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	6					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						CAGGGCATGTTCTTGGAGATC	0.542																																					p.N6D		Atlas-SNP	.											.	POLR1A	137	.	0			c.A16G						.						58.0	59.0	59.0					2																	86332884		1961	4141	6102	SO:0001583	missense	25885	exon1			GCATGTTCTTGGA	AK025568	CCDS42706.1	2p11.2	2013-01-21			ENSG00000068654	ENSG00000068654		"""RNA polymerase subunits"""	17264	protein-coding gene	gene with protein product						9236775	Standard	NM_015425		Approved	DKFZP586M0122, FLJ21915, RPO1-4, RPA1	uc002sqs.3	O95602	OTTHUMG00000153165	ENST00000263857.6:c.16A>G	chr2.hg19:g.86332884T>C	ENSP00000263857:p.Asn6Asp	140.0	0.0		88.0	4.0	NM_015425	B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	Missense_Mutation	SNP	ENST00000263857.6	hg19	CCDS42706.1	.	.	.	.	.	.	.	.	.	.	T	16.32	3.090701	0.55968	.	.	ENSG00000068654	ENST00000263857;ENST00000409681	T;T	0.66280	-0.2;-0.2	5.77	2.0	0.26442	.	0.325116	0.36034	N	0.002834	T	0.20577	0.0495	N	0.00538	-1.39	0.25140	N	0.9905	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.23691	-1.0181	10	0.11182	T	0.66	-13.7423	3.8673	0.09021	0.0:0.2032:0.5107:0.2861	.	6;6	B9ZVN9;O95602	.;RPA1_HUMAN	D	6	ENSP00000263857:N6D;ENSP00000386300:N6D	ENSP00000263857:N6D	N	-	1	0	POLR1A	86186395	0.998000	0.40836	0.986000	0.45419	0.990000	0.78478	1.196000	0.32198	0.425000	0.26087	0.455000	0.32223	AAC	.	.		0.542	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329830.2	NM_015425	
KANSL3	55683	hgsc.bcm.edu	37	2	97276523	97276523	+	Missense_Mutation	SNP	C	C	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr2:97276523C>A	ENST00000431828.1	-	11	1335	c.1259G>T	c.(1258-1260)cGg>cTg	p.R420L	KANSL3_ENST00000441706.2_Missense_Mutation_p.R333L|KANSL3_ENST00000487070.1_5'UTR|KANSL3_ENST00000599854.1_Missense_Mutation_p.R333L|KANSL3_ENST00000440133.1_Missense_Mutation_p.R214L			Q9P2N6	KANL3_HUMAN	KAT8 regulatory NSL complex subunit 3	420					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)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											AATCTTCTCCCGGAAGTCCTC	0.507																																					p.R420L		Atlas-SNP	.											.	.	.	.	0			c.G1259T						.						128.0	126.0	126.0					2																	97276523		1904	4128	6032	SO:0001583	missense	55683	exon11			TTCTCCCGGAAGT	BC063792	CCDS46361.1	2q11.2	2011-10-31	2011-10-31	2011-10-31	ENSG00000114982	ENSG00000114982			25473	protein-coding gene	gene with protein product			"""KIAA1310"""	KIAA1310			Standard	NM_001115016		Approved	FLJ10081, Rcd1, NSL3	uc002swn.5	Q9P2N6	OTTHUMG00000155249	ENST00000431828.1:c.1259G>T	chr2.hg19:g.97276523C>A	ENSP00000396749:p.Arg420Leu	93.0	0.0		69.0	4.0	NM_001115016	A1L184|D3DXH3|D3DXH4|Q05BU4|Q6P3X2|Q6PJH6|Q86T19|Q96L64|Q9H0C9|Q9H8C9|Q9HAP8|Q9NWE5	Missense_Mutation	SNP	ENST00000431828.1	hg19	CCDS46361.1	.	.	.	.	.	.	.	.	.	.	C	32	5.187828	0.94923	.	.	ENSG00000114982	ENST00000354204;ENST00000447759;ENST00000431828;ENST00000441706;ENST00000440133;ENST00000444759;ENST00000452268	T;T;T	0.20598	2.06;2.06;2.06	5.92	5.05	0.67936	.	0.050741	0.85682	D	0.000000	T	0.41673	0.1169	L	0.59436	1.845	0.80722	D	1	D;P;D;B	0.89917	1.0;0.761;1.0;0.05	D;B;D;B	0.91635	0.999;0.214;0.998;0.09	T	0.20974	-1.0259	10	0.49607	T	0.09	.	12.8512	0.57858	0.0:0.9215:0.0:0.0785	.	214;420;333;308	B4E1W4;Q9P2N6-3;Q9P2N6-5;Q9P2N6-6	.;.;.;.	L	333;308;420;333;214;214;333	ENSP00000396749:R420L;ENSP00000400678:R333L;ENSP00000406207:R214L	ENSP00000346144:R333L	R	-	2	0	KIAA1310	96640250	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.652000	0.83633	1.521000	0.48983	0.557000	0.71058	CGG	.	.		0.507	KANSL3-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339040.2	NM_017991	
COX5B	1329	hgsc.bcm.edu	37	2	98262581	98262581	+	Missense_Mutation	SNP	C	C	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr2:98262581C>T	ENST00000258424.2	+	1	79	c.32C>T	c.(31-33)aCg>aTg	p.T11M	COX5B_ENST00000464949.1_3'UTR	NM_001862.2	NP_001853.2	P10606	COX5B_HUMAN	cytochrome c oxidase subunit Vb	11					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|respiratory electron transport chain (GO:0022904)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	cytochrome-c oxidase activity (GO:0004129)|metal ion binding (GO:0046872)			endometrium(1)|lung(1)|urinary_tract(1)	3						GGAGCTGGAACGCTGGCCGCG	0.682																																					p.T11M		Atlas-SNP	.											.	COX5B	9	.	0			c.C32T						.						10.0	11.0	10.0					2																	98262581		2124	4166	6290	SO:0001583	missense	1329	exon1			CTGGAACGCTGGC	BC006229	CCDS2032.1	2q11.2	2011-07-04			ENSG00000135940	ENSG00000135940	1.9.3.1	"""Mitochondrial respiratory chain complex / Complex IV"""	2269	protein-coding gene	gene with protein product		123866					Standard	NM_001862		Approved		uc002sya.3	P10606	OTTHUMG00000130548	ENST00000258424.2:c.32C>T	chr2.hg19:g.98262581C>T	ENSP00000258424:p.Thr11Met	51.0	0.0		44.0	4.0	NM_001862	Q53YB7|Q96J18|Q99610	Missense_Mutation	SNP	ENST00000258424.2	hg19	CCDS2032.1	.	.	.	.	.	.	.	.	.	.	.	14.43	2.532028	0.45073	.	.	ENSG00000135940	ENST00000258424	.	.	.	4.94	3.07	0.35406	.	0.432105	0.21887	N	0.067660	T	0.17619	0.0423	N	0.24115	0.695	0.09310	N	1	P	0.45672	0.864	B	0.38985	0.287	T	0.08659	-1.0711	9	0.49607	T	0.09	-39.0412	6.8554	0.24038	0.0:0.7274:0.1763:0.0963	.	11	P10606	COX5B_HUMAN	M	11	.	ENSP00000258424:T11M	T	+	2	0	COX5B	97629013	0.153000	0.22777	0.423000	0.26634	0.673000	0.39480	1.477000	0.35431	1.330000	0.45394	0.557000	0.71058	ACG	.	.		0.682	COX5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252972.2	NM_001862	
AFF3	3899	hgsc.bcm.edu	37	2	100209828	100209828	+	Silent	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr2:100209828A>G	ENST00000409236.2	-	13	2407	c.2295T>C	c.(2293-2295)tcT>tcC	p.S765S	AFF3_ENST00000356421.2_Silent_p.S790S|AFF3_ENST00000409579.1_Silent_p.S790S|AFF3_ENST00000317233.4_Silent_p.S765S			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	765					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						TGACCCAGAGAGACCTGATCT	0.577																																					p.S790S		Atlas-SNP	.											.	AFF3	164	.	0			c.T2370C						.						70.0	65.0	67.0					2																	100209828		2203	4300	6503	SO:0001819	synonymous_variant	3899	exon14			CCAGAGAGACCTG	U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"""lymphoid nuclear protein related to AF4"""	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.2295T>C	chr2.hg19:g.100209828A>G		136.0	0.0		70.0	4.0	NM_001025108	B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Silent	SNP	ENST00000409236.2	hg19	CCDS42723.1																																																																																			.	.		0.577	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285	
SLC9A4	389015	hgsc.bcm.edu	37	2	103095346	103095346	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr2:103095346T>C	ENST00000295269.4	+	2	762	c.305T>C	c.(304-306)cTc>cCc	p.L102P		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	102					epithelial cell development (GO:0002064)|gastric acid secretion (GO:0001696)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						GAAAGCTGCCTCCTCATCCTG	0.592																																					p.L102P		Atlas-SNP	.											.	SLC9A4	115	.	0			c.T305C						.						57.0	53.0	55.0					2																	103095346		2203	4300	6503	SO:0001583	missense	389015	exon2			GCTGCCTCCTCAT		CCDS33264.1	2q12.1	2013-05-22	2012-03-22		ENSG00000180251	ENSG00000180251		"""Solute carriers"""	11077	protein-coding gene	gene with protein product		600531	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 4"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 4"""			8199403	Standard	NM_001011552		Approved	NHE4	uc002tbz.4	Q6AI14	OTTHUMG00000153093	ENST00000295269.4:c.305T>C	chr2.hg19:g.103095346T>C	ENSP00000295269:p.Leu102Pro	112.0	0.0		64.0	4.0	NM_001011552	Q69YK0	Missense_Mutation	SNP	ENST00000295269.4	hg19	CCDS33264.1	.	.	.	.	.	.	.	.	.	.	T	27.0	4.791271	0.90367	.	.	ENSG00000180251	ENST00000295269	T	0.74947	-0.89	5.6	5.6	0.85130	Cation/H+ exchanger (1);	0.064498	0.64402	D	0.000011	D	0.88919	0.6568	M	0.91872	3.25	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.91420	0.5158	10	0.87932	D	0	.	15.7878	0.78322	0.0:0.0:0.0:1.0	.	102	Q6AI14	SL9A4_HUMAN	P	102	ENSP00000295269:L102P	ENSP00000295269:L102P	L	+	2	0	SLC9A4	102461778	1.000000	0.71417	0.995000	0.50966	0.907000	0.53573	6.293000	0.72731	2.133000	0.65898	0.533000	0.62120	CTC	.	.		0.592	SLC9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329498.1	NM_001011552.3	
ST6GAL2	84620	hgsc.bcm.edu	37	2	107459506	107459506	+	Silent	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr2:107459506A>G	ENST00000409382.3	-	2	1538	c.928T>C	c.(928-930)Ttg>Ctg	p.L310L	AC016994.2_ENST00000425419.1_RNA|ST6GAL2_ENST00000409087.3_Silent_p.L310L|ST6GAL2_ENST00000361686.4_Silent_p.L310L	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	310					growth (GO:0040007)|multicellular organismal development (GO:0007275)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						TCCTCGCCCAAGGAAGAGTTG	0.677																																					p.L310L		Atlas-SNP	.											.	ST6GAL2	159	.	0			c.T928C						.						10.0	12.0	11.0					2																	107459506		1747	3700	5447	SO:0001819	synonymous_variant	84620	exon2			CGCCCAAGGAAGA	AB059555	CCDS2073.1, CCDS46380.1	2q11-q12	2008-02-05	2005-02-07	2005-02-07	ENSG00000144057	ENSG00000144057	2.4.99.2		10861	protein-coding gene	gene with protein product		608472	"""sialyltransferase 2 (monosialoganglioside sialyltransferase)"""	SIAT2			Standard	NM_032528		Approved	KIAA1877, St6gal2, St6GalII	uc002tdr.3	Q96JF0	OTTHUMG00000130923	ENST00000409382.3:c.928T>C	chr2.hg19:g.107459506A>G		176.0	0.0		93.0	4.0	NM_032528	D3DVK3|Q53QP4|Q86Y44|Q8IUG7|Q96HE4	Silent	SNP	ENST00000409382.3	hg19	CCDS2073.1																																																																																			.	.		0.677	ST6GAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330065.1	NM_032528	
SULT1C2	6819	hgsc.bcm.edu	37	2	108910710	108910710	+	Silent	SNP	G	G	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr2:108910710G>T	ENST00000437390.2	+	3	354	c.177G>T	c.(175-177)gtG>gtT	p.V59V	SULT1C2_ENST00000326853.5_Silent_p.V59V|SULT1C2_ENST00000251481.6_Silent_p.V59V|SULT1C2_ENST00000409880.1_Silent_p.V59V|SULT1C2_ENST00000492554.1_3'UTR			O75897	ST1C4_HUMAN	sulfotransferase family, cytosolic, 1C, member 2	65					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|small molecule metabolic process (GO:0044281)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	sulfotransferase activity (GO:0008146)			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						AGGAAATTGTGGATATGATTG	0.502																																					p.V59V		Atlas-SNP	.											.	SULT1C2	82	.	0			c.G177T						.						187.0	177.0	180.0					2																	108910710		2203	4300	6503	SO:0001819	synonymous_variant	6819	exon3			AATTGTGGATATG	U66036, AF186255	CCDS2075.1, CCDS2076.1	2q12.3	2010-09-30	2007-03-16	2007-03-16	ENSG00000198203	ENSG00000198203		"""Sulfotransferases, cytosolic"""	11456	protein-coding gene	gene with protein product		602385	"""sulfotransferase family, cytosolic, 1C, member 1"""	SULT1C1		9169148, 10783263	Standard	NM_001056		Approved	ST1C1	uc002tdx.3	O00338	OTTHUMG00000153215	ENST00000437390.2:c.177G>T	chr2.hg19:g.108910710G>T		73.0	0.0		93.0	5.0	NM_001056	Q069I8|Q08AS5|Q53S63	Silent	SNP	ENST00000437390.2	hg19		.	.	.	.	.	.	.	.	.	.	G	9.955	1.221194	0.22457	.	.	ENSG00000198203	ENST00000409067	.	.	.	4.97	-1.31	0.09230	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.2373	0.04011	0.2886:0.1188:0.4707:0.1219	.	.	.	.	X	56	.	.	G	+	1	0	SULT1C2	108277142	0.987000	0.35691	0.993000	0.49108	0.953000	0.61014	-0.107000	0.10873	-0.196000	0.10366	-0.127000	0.14921	GGA	.	.		0.502	SULT1C2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000329969.2	NM_176825	
SULT1C2	6819	hgsc.bcm.edu	37	2	108910807	108910807	+	Missense_Mutation	SNP	T	T	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr2:108910807T>A	ENST00000437390.2	+	3	451	c.274T>A	c.(274-276)Tct>Act	p.S92T	SULT1C2_ENST00000326853.5_Missense_Mutation_p.S92T|SULT1C2_ENST00000251481.6_Missense_Mutation_p.S92T|SULT1C2_ENST00000409880.1_Missense_Mutation_p.S92T			O75897	ST1C4_HUMAN	sulfotransferase family, cytosolic, 1C, member 2	94					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|small molecule metabolic process (GO:0044281)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	sulfotransferase activity (GO:0008146)			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						ACCCCAACCTTCTGGTGAGAG	0.512																																					p.S92T		Atlas-SNP	.											.	SULT1C2	82	.	0			c.T274A						.						118.0	109.0	112.0					2																	108910807		2203	4300	6503	SO:0001583	missense	6819	exon3			CAACCTTCTGGTG	U66036, AF186255	CCDS2075.1, CCDS2076.1	2q12.3	2010-09-30	2007-03-16	2007-03-16	ENSG00000198203	ENSG00000198203		"""Sulfotransferases, cytosolic"""	11456	protein-coding gene	gene with protein product		602385	"""sulfotransferase family, cytosolic, 1C, member 1"""	SULT1C1		9169148, 10783263	Standard	NM_001056		Approved	ST1C1	uc002tdx.3	O00338	OTTHUMG00000153215	ENST00000437390.2:c.274T>A	chr2.hg19:g.108910807T>A	ENSP00000399651:p.Ser92Thr	113.0	0.0		92.0	4.0	NM_001056	Q069I8|Q08AS5|Q53S63	Missense_Mutation	SNP	ENST00000437390.2	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.78|16.78	3.218761|3.218761	0.58560|0.58560	.|.	.|.	ENSG00000198203|ENSG00000198203	ENST00000409067|ENST00000251481;ENST00000326853;ENST00000438339;ENST00000409880;ENST00000437390	.|D;T;T;T;D	.|0.82711	.|-1.64;2.3;4.69;4.69;-1.54	4.97|4.97	4.97|4.97	0.65823|0.65823	.|Sulfotransferase domain (1);	.|0.937080	.|0.08825	.|N	.|0.888210	D|D	0.83115|0.83115	0.5184|0.5184	M|M	0.72624|0.72624	2.21|2.21	0.22754|0.22754	N|N	0.998773|0.998773	.|B;B;B	.|0.23490	.|0.086;0.086;0.07	.|B;B;B	.|0.25759	.|0.063;0.063;0.037	T|T	0.71540|0.71540	-0.4562|-0.4562	5|10	.|0.36615	.|T	.|0.2	.|.	12.6318|12.6318	0.56661|0.56661	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|92;92;92	.|B4DLP0;O00338;O00338-2	.|.;ST1C2_HUMAN;.	Y|T	88|92	.|ENSP00000251481:S92T;ENSP00000319622:S92T;ENSP00000401996:S92T;ENSP00000387054:S92T;ENSP00000399651:S92T	.|ENSP00000251481:S92T	F|S	+|+	2|1	0|0	SULT1C2|SULT1C2	108277239|108277239	0.214000|0.214000	0.23563|0.23563	0.074000|0.074000	0.20217|0.20217	0.308000|0.308000	0.27856|0.27856	2.078000|2.078000	0.41567|0.41567	2.073000|2.073000	0.62155|0.62155	0.533000|0.533000	0.62120|0.62120	TTC|TCT	.	.		0.512	SULT1C2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000329969.2	NM_176825	
NPHP1	4867	hgsc.bcm.edu	37	2	110926056	110926056	+	Silent	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr2:110926056T>C	ENST00000393272.3	-	6	694	c.597A>G	c.(595-597)gaA>gaG	p.E199E	NPHP1_ENST00000417665.1_Silent_p.E199E|NPHP1_ENST00000316534.4_Silent_p.E199E|NPHP1_ENST00000355301.4_Silent_p.E137E|NPHP1_ENST00000445609.2_Silent_p.E199E	NM_000272.3|NM_207181.2	NP_000263.2|NP_997064.2	O15259	NPHP1_HUMAN	nephronophthisis 1 (juvenile)	199	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin cytoskeleton organization (GO:0030036)|cell projection organization (GO:0030030)|cellular protein localization (GO:0034613)|excretion (GO:0007588)|photoreceptor cell outer segment organization (GO:0035845)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|spermatid differentiation (GO:0048515)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|motile cilium (GO:0031514)|photoreceptor connecting cilium (GO:0032391)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						GAACAAGACCTTCATTTCCTT	0.348																																					p.E199E		Atlas-SNP	.											.	NPHP1	68	.	0			c.A597G						.						146.0	149.0	148.0					2																	110926056		2203	4300	6503	SO:0001819	synonymous_variant	4867	exon6			AAGACCTTCATTT	AF023674	CCDS2086.1, CCDS46384.1, CCDS46385.1, CCDS46386.1	2q13	2014-01-28			ENSG00000144061	ENSG00000144061			7905	protein-coding gene	gene with protein product	"""nephrocystin-1"""	607100		NPH1			Standard	NM_000272		Approved	JBTS4, SLSN1	uc002tfm.4	O15259	OTTHUMG00000131195	ENST00000393272.3:c.597A>G	chr2.hg19:g.110926056T>C		119.0	0.0		68.0	20.0	NM_207181	O14837	Silent	SNP	ENST00000393272.3	hg19	CCDS46385.1																																																																																			.	.		0.348	NPHP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253919.3	NM_000272	
C1QL2	165257	hgsc.bcm.edu	37	2	119915747	119915747	+	Silent	SNP	G	G	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr2:119915747G>A	ENST00000272520.3	-	1	718	c.99C>T	c.(97-99)tgC>tgT	p.C33C		NM_182528.3	NP_872334.2	Q7Z5L3	C1QL2_HUMAN	complement component 1, q subcomponent-like 2	33				CD -> WE (in Ref. 1; AAP80787). {ECO:0000305}.	protein oligomerization (GO:0051259)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)		p.C33C(1)		NS(1)|endometrium(1)|large_intestine(3)|pancreas(1)|prostate(1)	7						TGTAAGGGTCGCAGATCATGC	0.726										HNSCC(49;0.14)																											p.C33C		Atlas-SNP	.											C1QL2,colon,carcinoma,0,1	C1QL2	25	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C99T						.						6.0	7.0	7.0					2																	119915747		1677	3758	5435	SO:0001819	synonymous_variant	165257	exon1			AGGGTCGCAGATC	AF525315	CCDS42737.1	2q14.2	2009-05-20			ENSG00000144119	ENSG00000144119			24181	protein-coding gene	gene with protein product	"""C1q and tumor necrosis factor related protein 10"""	614330				18783346	Standard	NM_182528		Approved	CTRP10, C1QTNF10	uc002tlo.2	Q7Z5L3	OTTHUMG00000153271	ENST00000272520.3:c.99C>T	chr2.hg19:g.119915747G>A		22.0	0.0		33.0	2.0	NM_182528		Silent	SNP	ENST00000272520.3	hg19	CCDS42737.1																																																																																			.	.		0.726	C1QL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330527.2	NM_182528	
MYO7B	4648	hgsc.bcm.edu	37	2	128335802	128335802	+	Missense_Mutation	SNP	G	G	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr2:128335802G>T	ENST00000409816.2	+	8	976	c.944G>T	c.(943-945)aGc>aTc	p.S315I	MYO7B_ENST00000389524.4_Missense_Mutation_p.S315I|MYO7B_ENST00000428314.1_Missense_Mutation_p.S315I			Q6PIF6	MYO7B_HUMAN	myosin VIIB	315	Myosin motor.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GACTCCGAGAGCTGGGACGTC	0.612																																					p.S315I		Atlas-SNP	.											.	MYO7B	359	.	0			c.G944T						.						55.0	61.0	59.0					2																	128335802		2107	4215	6322	SO:0001583	missense	4648	exon9			CCGAGAGCTGGGA		CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"""Myosins / Myosin superfamily : Class VII"""	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.944G>T	chr2.hg19:g.128335802G>T	ENSP00000386461:p.Ser315Ile	169.0	0.0		116.0	5.0	NM_001080527	Q14786|Q8TEE1	Missense_Mutation	SNP	ENST00000409816.2	hg19	CCDS46405.1	.	.	.	.	.	.	.	.	.	.	G	4.569	0.105665	0.08780	.	.	ENSG00000169994	ENST00000389524;ENST00000428314;ENST00000409816	T;T;T	0.69685	-0.42;-0.42;-0.42	4.25	1.67	0.24075	Myosin head, motor domain (2);	0.382433	0.28031	N	0.016870	T	0.21103	0.0508	N	0.00041	-2.485	0.22675	N	0.998867	B	0.32467	0.372	B	0.35413	0.202	T	0.44034	-0.9354	10	0.15499	T	0.54	.	8.3383	0.32228	0.8334:0.0:0.1666:0.0	.	315	Q6PIF6	MYO7B_HUMAN	I	315	ENSP00000374175:S315I;ENSP00000415090:S315I;ENSP00000386461:S315I	ENSP00000374175:S315I	S	+	2	0	MYO7B	128052272	0.997000	0.39634	0.997000	0.53966	0.309000	0.27889	1.227000	0.32576	0.283000	0.22279	-0.440000	0.05779	AGC	.	.		0.612	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3	XM_291001	
IMP4	92856	hgsc.bcm.edu	37	2	131104030	131104030	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr2:131104030A>G	ENST00000259239.3	+	9	1573	c.865A>G	c.(865-867)Agc>Ggc	p.S289G	IMP4_ENST00000409935.1_3'UTR	NM_033416.1	NP_219484.1	Q96G21	IMP4_HUMAN	IMP4, U3 small nucleolar ribonucleoprotein	289					rRNA processing (GO:0006364)	nucleolus (GO:0005730)|ribonucleoprotein complex (GO:0030529)				central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	18	Colorectal(110;0.1)					AGTCTTCCTGAGCACCGAGTG	0.572																																					p.S289G		Atlas-SNP	.											.	IMP4	35	.	0			c.A865G						.						62.0	50.0	54.0					2																	131104030		2183	4256	6439	SO:0001583	missense	92856	exon9			TTCCTGAGCACCG	BC010042	CCDS2160.1	2q21.1	2014-02-19	2014-02-19		ENSG00000136718	ENSG00000136718			30856	protein-coding gene	gene with protein product		612981	"""IMP4, U3 small nucleolar ribonucleoprotein, homolog (yeast)"""			8619474, 9110174, 12655004	Standard	NM_033416		Approved	MGC19606, BXDC4	uc002tra.1	Q96G21	OTTHUMG00000131627	ENST00000259239.3:c.865A>G	chr2.hg19:g.131104030A>G	ENSP00000259239:p.Ser289Gly	105.0	0.0		74.0	5.0	NM_033416	Q3ZTT3	Missense_Mutation	SNP	ENST00000259239.3	hg19	CCDS2160.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.63|19.63	3.863384|3.863384	0.71949|0.71949	.|.	.|.	ENSG00000136718|ENSG00000136718	ENST00000259239;ENST00000428740|ENST00000452955	T;T|.	0.50548|.	0.74;0.81|.	5.63|5.63	5.63|5.63	0.86233|0.86233	.|.	0.175734|.	0.64402|.	D|.	0.000011|.	T|.	0.63212|.	0.2492|.	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	P|.	0.43885|.	0.82|.	P|.	0.50860|.	0.652|.	T|.	0.61589|.	-0.7032|.	10|.	0.32370|.	T|.	0.25|.	-25.5827|-25.5827	12.5231|12.5231	0.56072|0.56072	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	289|.	Q96G21|.	IMP4_HUMAN|.	G|W	289;234|277	ENSP00000259239:S289G;ENSP00000389701:S234G|.	ENSP00000259239:S289G|.	S|X	+|+	1|3	0|0	IMP4|IMP4	130820500|130820500	1.000000|1.000000	0.71417|0.71417	0.989000|0.989000	0.46669|0.46669	0.455000|0.455000	0.32408|0.32408	7.898000|7.898000	0.87363|0.87363	2.279000|2.279000	0.76181|0.76181	0.533000|0.533000	0.62120|0.62120	AGC|TGA	.	.		0.572	IMP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254520.2	NM_033416	
GPR148	344561	hgsc.bcm.edu	37	2	131487678	131487678	+	Silent	SNP	C	C	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr2:131487678C>T	ENST00000309926.4	+	1	1036	c.954C>T	c.(952-954)taC>taT	p.Y318Y		NM_207364.2	NP_997247.2	Q8TDV2	GP148_HUMAN	G protein-coupled receptor 148	318						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27	Colorectal(110;0.1)					TGCTCACATACCTGTACCTGC	0.572																																					p.Y318Y		Atlas-SNP	.											.	GPR148	54	.	0			c.C954T						.						79.0	65.0	70.0					2																	131487678		2203	4300	6503	SO:0001819	synonymous_variant	344561	exon1			CACATACCTGTAC	AY255532	CCDS2163.1	2q21.2	2012-08-21			ENSG00000173302	ENSG00000173302		"""GPCR / Class A : Orphans"""	23623	protein-coding gene	gene with protein product						12679517	Standard	NM_207364		Approved	PGR6	uc002trv.2	Q8TDV2	OTTHUMG00000131655	ENST00000309926.4:c.954C>T	chr2.hg19:g.131487678C>T		91.0	0.0		81.0	5.0	NM_207364	Q2M369|Q86SP7|Q86U87	Silent	SNP	ENST00000309926.4	hg19	CCDS2163.1																																																																																			.	.		0.572	GPR148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254552.3	XM_293092	
MMADHC	27249	hgsc.bcm.edu	37	2	150435986	150435986	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr2:150435986T>C	ENST00000428879.1	-	3	835	c.331A>G	c.(331-333)Aga>Gga	p.R111G	MMADHC_ENST00000422782.2_Missense_Mutation_p.R111G|MMADHC_ENST00000303319.5_Missense_Mutation_p.R111G			Q9H3L0	MMAD_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria	111					cobalamin metabolic process (GO:0009235)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrion (GO:0005739)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(2)	11						AACTCATGTCTTTCACTTGAT	0.353																																					p.R111G		Atlas-SNP	.											.	MMADHC	20	.	0			c.A331G						.						93.0	92.0	92.0					2																	150435986		2203	4300	6503	SO:0001583	missense	27249	exon4			CATGTCTTTCACT	BC023995	CCDS2189.1	2q23	2011-05-12	2009-01-08	2009-01-08	ENSG00000168288	ENSG00000168288			25221	protein-coding gene	gene with protein product		611935	"""chromosome 2 open reading frame 25"""	C2orf25		18385497	Standard	NM_015702		Approved	CL25022, cblD	uc002txc.3	Q9H3L0	OTTHUMG00000155558	ENST00000428879.1:c.331A>G	chr2.hg19:g.150435986T>C	ENSP00000389060:p.Arg111Gly	139.0	0.0		95.0	4.0	NM_015702	B2R895|D3DP91|O95891	Missense_Mutation	SNP	ENST00000428879.1	hg19	CCDS2189.1	.	.	.	.	.	.	.	.	.	.	T	18.90	3.721583	0.68959	.	.	ENSG00000168288	ENST00000303319;ENST00000428879;ENST00000422782	D;D;D	0.89746	-2.56;-2.56;-2.56	5.19	5.19	0.71726	.	0.044848	0.85682	D	0.000000	D	0.94155	0.8125	M	0.85630	2.765	0.49915	D	0.999836	D;D	0.71674	0.998;0.998	D;D	0.71870	0.963;0.975	D	0.94743	0.7920	10	0.87932	D	0	-1.639	11.7879	0.52053	0.0:0.0:0.1464:0.8536	.	111;111	F8WEC0;Q9H3L0	.;MMAD_HUMAN	G	111	ENSP00000301920:R111G;ENSP00000389060:R111G;ENSP00000408331:R111G	ENSP00000301920:R111G	R	-	1	2	MMADHC	150144232	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.895000	0.39778	2.078000	0.62432	0.455000	0.32223	AGA	.	.		0.353	MMADHC-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332312.1	NM_015702	
NEB	4703	hgsc.bcm.edu	37	2	152402893	152402893	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr2:152402893T>C	ENST00000172853.10	-	106	15476	c.15329A>G	c.(15328-15330)gAc>gGc	p.D5110G	NEB_ENST00000409198.1_Missense_Mutation_p.D5110G|NEB_ENST00000604864.1_Missense_Mutation_p.D6811G|NEB_ENST00000603639.1_Missense_Mutation_p.D6811G|NEB_ENST00000427231.2_Missense_Mutation_p.D6811G|NEB_ENST00000397345.3_Missense_Mutation_p.D6811G			P20929	NEBU_HUMAN	nebulin	5110					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GCGGACCATGTCAGGAGTGTC	0.522																																					p.D6811G		Atlas-SNP	.											.	NEB	1697	.	0			c.A20432G						.						129.0	138.0	135.0					2																	152402893		1996	4188	6184	SO:0001583	missense	4703	exon134			ACCATGTCAGGAG	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.15329A>G	chr2.hg19:g.152402893T>C	ENSP00000172853:p.Asp5110Gly	130.0	0.0		99.0	4.0	NM_001271208	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	hg19		.	.	.	.	.	.	.	.	.	.	T	34	5.305732	0.95601	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853	T;T;T;T;T	0.52526	0.66;0.66;0.66;0.66;0.66	6.17	6.17	0.99709	.	0.042414	0.85682	D	0.000000	T	0.67078	0.2855	M	0.64170	1.965	0.80722	D	1	D;D	0.69078	0.997;0.995	D;D	0.78314	0.973;0.991	T	0.67473	-0.5662	10	0.54805	T	0.06	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	5110;1541	P20929;Q14215	NEBU_HUMAN;.	G	5110;6811;6811;1159;1541;5110	ENSP00000386259:D5110G;ENSP00000380505:D6811G;ENSP00000416578:D6811G;ENSP00000410961:D1541G;ENSP00000172853:D5110G	ENSP00000172853:D5110G	D	-	2	0	NEB	152111139	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.633000	0.83260	2.371000	0.80710	0.533000	0.62120	GAC	.	.		0.522	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543	
BAZ2B	29994	hgsc.bcm.edu	37	2	160242972	160242972	+	Silent	SNP	A	A	C	rs532285305		TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr2:160242972A>C	ENST00000392783.2	-	22	3858	c.3363T>G	c.(3361-3363)ctT>ctG	p.L1121L	BAZ2B_ENST00000392782.1_Silent_p.L1085L|BAZ2B_ENST00000355831.2_Silent_p.L1087L|BAZ2B_ENST00000343439.5_Silent_p.L1021L|AC008277.1_ENST00000420020.1_RNA	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1121	DDT. {ECO:0000255|PROSITE- ProRule:PRU00063}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						ATCCCTCTTGAAGAACACTCA	0.428																																					p.L1121L		Atlas-SNP	.											.	BAZ2B	196	.	0			c.T3363G						.						115.0	105.0	108.0					2																	160242972		1878	4119	5997	SO:0001819	synonymous_variant	29994	exon22			CTCTTGAAGAACA	AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"""Zinc fingers, PHD-type"""	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.3363T>G	chr2.hg19:g.160242972A>C		255.0	0.0		153.0	34.0	NM_013450	D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Silent	SNP	ENST00000392783.2	hg19	CCDS2209.2	.	.	.	.	.	.	.	.	.	.	A	15.95	2.984718	0.53934	.	.	ENSG00000123636	ENST00000294905	.	.	.	6.08	4.9	0.64082	.	.	.	.	.	T	0.58807	0.2148	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56117	-0.8032	4	.	.	.	-4.5391	7.8259	0.29315	0.7917:0.14:0.0683:0.0	.	.	.	.	A	182	.	.	S	-	1	0	BAZ2B	159951218	0.997000	0.39634	1.000000	0.80357	0.998000	0.95712	0.722000	0.25925	1.087000	0.41251	0.482000	0.46254	TCA	.	.		0.428	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2		
RBMS1	5937	hgsc.bcm.edu	37	2	161133886	161133886	+	Silent	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr2:161133886A>G	ENST00000348849.3	-	12	1501	c.1071T>C	c.(1069-1071)ccT>ccC	p.P357P	RBMS1_ENST00000474820.1_5'UTR|RBMS1_ENST00000409289.2_Silent_p.P321P|RBMS1_ENST00000409972.1_Silent_p.P321P|RBMS1_ENST00000409075.1_Silent_p.P321P|RBMS1_ENST00000392753.3_Silent_p.P370P	NM_002897.4|NM_016836.3	NP_002888.1|NP_058520.1	P29558	RBMS1_HUMAN	RNA binding motif, single stranded interacting protein 1	357					DNA replication (GO:0006260)|RNA processing (GO:0006396)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)		PLA2R1/RBMS1(2)								CTGACGTTGCAGGCATGTACT	0.463																																					p.P357P		Atlas-SNP	.											.	RBMS1	34	.	0			c.T1071C						.						124.0	93.0	104.0					2																	161133886		2203	4300	6503	SO:0001819	synonymous_variant	5937	exon12			CGTTGCAGGCATG	D28482	CCDS2213.1	2q24.2	2013-02-12			ENSG00000153250	ENSG00000153250		"""RNA binding motif (RRM) containing"""	9907	protein-coding gene	gene with protein product	"""suppressor of cdc 2 (cdc13) with RNA binding motif 2"", ""c-myc gene single strand binding protein 2"""	602310	"""chromosome 2 open reading frame 12"""	C2orf12		8041632, 8134115, 7838710	Standard	NM_016836		Approved	SCR2, MSSP-1, MSSP-2, MSSP-3, YC1, HCC-4, DKFZp564H0764	uc002ubo.3	P29558	OTTHUMG00000132031	ENST00000348849.3:c.1071T>C	chr2.hg19:g.161133886A>G		146.0	0.0		95.0	6.0	NM_016836	Q14869|Q15433|Q53P46|Q53QX8|Q53RG6|Q8WV20	Silent	SNP	ENST00000348849.3	hg19	CCDS2213.1																																																																																			.	.		0.463	RBMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255043.4	NM_016836	
TBR1	10716	hgsc.bcm.edu	37	2	162275531	162275531	+	Silent	SNP	C	C	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr2:162275531C>T	ENST00000389554.3	+	4	1415	c.1098C>T	c.(1096-1098)ttC>ttT	p.F366F	TBR1_ENST00000410035.1_Silent_p.F79F	NM_006593.2	NP_006584.1	Q16650	TBR1_HUMAN	T-box, brain, 1	366					axon guidance (GO:0007411)|brain development (GO:0007420)|hindbrain development (GO:0030902)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of neuron projection development (GO:0010975)|specification of organ identity (GO:0010092)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						AGACTCAGTTCATCGCCGTCA	0.637																																					p.F366F		Atlas-SNP	.											.	TBR1	59	.	0			c.C1098T						.						100.0	95.0	97.0					2																	162275531		2203	4300	6503	SO:0001819	synonymous_variant	10716	exon4			TCAGTTCATCGCC	U49250	CCDS33310.1	2q24.2	2011-06-13			ENSG00000136535	ENSG00000136535		"""T-boxes"""	11590	protein-coding gene	gene with protein product		604616				7619531	Standard	NM_006593		Approved		uc002ubw.1	Q16650	OTTHUMG00000153888	ENST00000389554.3:c.1098C>T	chr2.hg19:g.162275531C>T		122.0	0.0		89.0	5.0	NM_006593	B0AZS4|B2R6G5|Q14DC5|Q53TH0|Q56A81	Silent	SNP	ENST00000389554.3	hg19	CCDS33310.1																																																																																			.	.		0.637	TBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332845.1	NM_006593	
LRP2	4036	hgsc.bcm.edu	37	2	170136002	170136002	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr2:170136002T>C	ENST00000263816.3	-	12	1730	c.1445A>G	c.(1444-1446)tAt>tGt	p.Y482C	LRP2_ENST00000443831.1_Missense_Mutation_p.Y482C	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	482					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	TTCCACTAGATAGATTTTATT	0.388																																					p.Y482C		Atlas-SNP	.											.	LRP2	751	.	0			c.A1445G						.						104.0	111.0	108.0					2																	170136002		2203	4300	6503	SO:0001583	missense	4036	exon12			ACTAGATAGATTT		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.1445A>G	chr2.hg19:g.170136002T>C	ENSP00000263816:p.Tyr482Cys	201.0	0.0		144.0	45.0	NM_004525	O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	hg19	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	T	15.29	2.789002	0.49997	.	.	ENSG00000081479	ENST00000263816;ENST00000443831	D;D	0.99304	-5.72;-5.72	5.58	5.58	0.84498	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.99654	0.9872	H	0.97340	3.985	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.97459	1.0033	9	.	.	.	.	15.7574	0.78046	0.0:0.0:0.0:1.0	.	482;482	E9PC35;P98164	.;LRP2_HUMAN	C	482	ENSP00000263816:Y482C;ENSP00000409813:Y482C	.	Y	-	2	0	LRP2	169844248	1.000000	0.71417	0.954000	0.39281	0.363000	0.29612	7.971000	0.88012	2.136000	0.66102	0.528000	0.53228	TAT	.	.		0.388	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525	
UBR3	130507	hgsc.bcm.edu	37	2	170806434	170806434	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr2:170806434T>C	ENST00000272793.5	+	23	3454	c.3404T>C	c.(3403-3405)gTg>gCg	p.V1135A	UBR3_ENST00000418381.1_Missense_Mutation_p.V1135A			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	1135					embryo development (GO:0009790)|in utero embryonic development (GO:0001701)|olfactory behavior (GO:0042048)|sensory perception of smell (GO:0007608)|suckling behavior (GO:0001967)|ubiquitin-dependent protein catabolic process (GO:0006511)	integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						ATAACTGCCGTGGAAAGAATT	0.373																																					p.V1135A		Atlas-SNP	.											.	UBR3	182	.	0			c.T3404C						.						50.0	51.0	51.0					2																	170806434		2203	4299	6502	SO:0001583	missense	130507	exon23			CTGCCGTGGAAAG	AL834144	CCDS2238.2	2q31.1	2008-06-23	2008-06-23	2007-11-29	ENSG00000144357	ENSG00000144357		"""Ubiquitin protein ligase E3 component n-recognins"""	30467	protein-coding gene	gene with protein product		613831	"""zinc finger protein 650"""	ZNF650		17462990	Standard	NM_172070		Approved	KIAA2024, DKFZp434P117, FLJ37422	uc010zdi.2	Q6ZT12	OTTHUMG00000132229	ENST00000272793.5:c.3404T>C	chr2.hg19:g.170806434T>C	ENSP00000272793:p.Val1135Ala	156.0	0.0		87.0	4.0	NM_172070	B4DZR7|Q2KHN5|Q6ZR55|Q6ZSC2|Q8IVE7|Q8ND96	Missense_Mutation	SNP	ENST00000272793.5	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.50|18.50	3.636499|3.636499	0.67130|0.67130	.|.	.|.	ENSG00000144357|ENSG00000144357	ENST00000272793;ENST00000442603;ENST00000418381|ENST00000392632	T;T|.	0.57436|.	0.4;0.4|.	5.71|5.71	5.71|5.71	0.89125|0.89125	.|.	.|.	.|.	.|.	.|.	T|T	0.53270|0.53270	0.1786|0.1786	N|N	0.22421|0.22421	0.69|0.69	0.80722|0.80722	D|D	1|1	B|.	0.34015|.	0.435|.	B|.	0.30401|.	0.115|.	T|T	0.50171|0.50171	-0.8859|-0.8859	9|5	0.48119|.	T|.	0.1|.	.|.	16.0044|16.0044	0.80349|0.80349	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1135|.	Q6ZT12|.	UBR3_HUMAN|.	A|R	1135|193	ENSP00000272793:V1135A;ENSP00000396068:V1135A|.	ENSP00000272793:V1135A|.	V|W	+|+	2|1	0|0	UBR3|UBR3	170514680|170514680	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.893000|0.893000	0.52053|0.52053	7.841000|7.841000	0.86834|0.86834	2.191000|2.191000	0.70037|0.70037	0.528000|0.528000	0.53228|0.53228	GTG|TGG	.	.		0.373	UBR3-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255290.2	NM_172070	
UBR3	130507	hgsc.bcm.edu	37	2	170897404	170897404	+	Silent	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr2:170897404A>G	ENST00000272793.5	+	32	4619	c.4569A>G	c.(4567-4569)gaA>gaG	p.E1523E	UBR3_ENST00000418381.1_Silent_p.E1523E|UBR3_ENST00000392631.1_Silent_p.E344E			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	1523					embryo development (GO:0009790)|in utero embryonic development (GO:0001701)|olfactory behavior (GO:0042048)|sensory perception of smell (GO:0007608)|suckling behavior (GO:0001967)|ubiquitin-dependent protein catabolic process (GO:0006511)	integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						TGGGATATGAAGAACAACAGC	0.333																																					p.E1523E		Atlas-SNP	.											.	UBR3	182	.	0			c.A4569G						.						112.0	104.0	107.0					2																	170897404		2203	4300	6503	SO:0001819	synonymous_variant	130507	exon32			ATATGAAGAACAA	AL834144	CCDS2238.2	2q31.1	2008-06-23	2008-06-23	2007-11-29	ENSG00000144357	ENSG00000144357		"""Ubiquitin protein ligase E3 component n-recognins"""	30467	protein-coding gene	gene with protein product		613831	"""zinc finger protein 650"""	ZNF650		17462990	Standard	NM_172070		Approved	KIAA2024, DKFZp434P117, FLJ37422	uc010zdi.2	Q6ZT12	OTTHUMG00000132229	ENST00000272793.5:c.4569A>G	chr2.hg19:g.170897404A>G		151.0	0.0		93.0	4.0	NM_172070	B4DZR7|Q2KHN5|Q6ZR55|Q6ZSC2|Q8IVE7|Q8ND96	Silent	SNP	ENST00000272793.5	hg19		.	.	.	.	.	.	.	.	.	.	A	8.635	0.894600	0.17613	.	.	ENSG00000144357	ENST00000392632	.	.	.	5.27	1.32	0.21799	.	.	.	.	.	T	0.43986	0.1272	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.23762	-1.0179	4	.	.	.	.	3.0354	0.06121	0.5147:0.0:0.2027:0.2826	.	.	.	.	R	585	.	.	K	+	2	0	UBR3	170605650	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	0.865000	0.27940	0.399000	0.25367	0.477000	0.44152	AAG	.	.		0.333	UBR3-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255290.2	NM_172070	
SCRN3	79634	hgsc.bcm.edu	37	2	175269041	175269041	+	Missense_Mutation	SNP	A	A	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr2:175269041A>C	ENST00000272732.6	+	5	834	c.752A>C	c.(751-753)aAa>aCa	p.K251T	SCRN3_ENST00000409673.3_Missense_Mutation_p.K244T	NM_001193528.1|NM_024583.4	NP_001180457.1|NP_078859.2	Q0VDG4	SCRN3_HUMAN	secernin 3	251							dipeptidase activity (GO:0016805)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|urinary_tract(3)	13			OV - Ovarian serous cystadenocarcinoma(117;0.229)			AATAAGCACAAAGGTAATTTT	0.333																																					p.K251T		Atlas-SNP	.											.	SCRN3	76	.	0			c.A752C						.						51.0	48.0	49.0					2																	175269041		2203	4300	6503	SO:0001583	missense	79634	exon5			AGCACAAAGGTAA	AF279776	CCDS2258.1, CCDS54420.1	2q31	2008-02-05			ENSG00000144306	ENSG00000144306			30382	protein-coding gene	gene with protein product		614967				12221138	Standard	NM_024583		Approved	FLJ23142	uc002uiq.3	Q0VDG4	OTTHUMG00000132332	ENST00000272732.6:c.752A>C	chr2.hg19:g.175269041A>C	ENSP00000272732:p.Lys251Thr	107.0	0.0		76.0	21.0	NM_024583	B4DI11|C9JPC1|D3DPE0|Q7L1C5|Q9H5R5	Missense_Mutation	SNP	ENST00000272732.6	hg19	CCDS2258.1	.	.	.	.	.	.	.	.	.	.	A	13.06	2.123118	0.37436	.	.	ENSG00000144306	ENST00000409673;ENST00000272732	T;T	0.20738	2.05;2.05	5.82	3.33	0.38152	.	0.446498	0.27640	N	0.018464	T	0.20941	0.0504	L	0.40543	1.245	0.26434	N	0.975891	P;P	0.39920	0.695;0.491	P;B	0.46419	0.516;0.258	T	0.10086	-1.0645	10	0.17832	T	0.49	-16.118	9.0186	0.36186	0.8083:0.126:0.0658:0.0	.	244;251	B4DI11;Q0VDG4	.;SCRN3_HUMAN	T	244;251	ENSP00000387142:K244T;ENSP00000272732:K251T	ENSP00000272732:K251T	K	+	2	0	SCRN3	174977287	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.286000	0.58995	0.409000	0.25649	-0.316000	0.08728	AAA	.	.		0.333	SCRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255451.2	NM_024583	
EVX2	344191	hgsc.bcm.edu	37	2	176948503	176948503	+	Start_Codon_SNP	SNP	A	A	G	rs375658297		TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr2:176948503A>G	ENST00000308618.4	-	1	138	c.2T>C	c.(1-3)aTg>aCg	p.M1T		NM_001080458.1	NP_001073927.1	Q03828	EVX2_HUMAN	even-skipped homeobox 2	1					limb morphogenesis (GO:0035108)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(3)	16			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)		TCTTTCCATCATCTCAGCTTT	0.502													A|||	1	0.000199681	0.0008	0.0	5008	,	,		17048	0.0		0.0	False		,,,				2504	0.0				p.M1T		Atlas-SNP	.											.	EVX2	51	.	0			c.T2C						.	A	THR/MET	2,4404		0,2,2201	60.0	67.0	65.0		2	5.4	1.0	2		65	0,8600		0,0,4300	no	missense	EVX2	NM_001080458.1	81	0,2,6501	GG,GA,AA		0.0,0.0454,0.0154	possibly-damaging	1/477	176948503	2,13004	2203	4300	6503	SO:0001582	initiator_codon_variant	344191	exon1			TCCATCATCTCAG		CCDS33333.1	2q31.1	2012-03-09	2007-02-15		ENSG00000174279	ENSG00000174279		"""Homeoboxes / ANTP class : HOXL subclass"""	3507	protein-coding gene	gene with protein product		142991	"""eve, even-skipped homeobox homolog 2 (Drosophila)"""			1675198	Standard	NM_001080458		Approved		uc010zeu.2	Q03828	OTTHUMG00000154173	ENST00000308618.4:c.2T>C	chr2.hg19:g.176948503A>G	ENSP00000312385:p.Met1Thr	179.0	0.0		83.0	4.0	NM_001080458		Missense_Mutation	SNP	ENST00000308618.4	hg19	CCDS33333.1	.	.	.	.	.	.	.	.	.	.	A	15.83	2.948898	0.53186	4.54E-4	0.0	ENSG00000174279	ENST00000308618	D	0.92699	-3.09	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	D	0.95382	0.8501	.	.	.	0.80722	D	1	D	0.55800	0.973	P	0.61201	0.885	D	0.95865	0.8886	9	0.87932	D	0	-21.6336	15.6681	0.77247	1.0:0.0:0.0:0.0	.	1	Q03828	EVX2_HUMAN	T	1	ENSP00000312385:M1T	ENSP00000312385:M1T	M	-	2	0	EVX2	176656749	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.764000	0.68826	2.288000	0.76882	0.533000	0.62120	ATG	.	.		0.502	EVX2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359252.1		Missense_Mutation
TTN	7273	hgsc.bcm.edu	37	2	179393915	179393915	+	Silent	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr2:179393915A>G	ENST00000591111.1	-	310	101864	c.101640T>C	c.(101638-101640)tcT>tcC	p.S33880S	TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN_ENST00000342992.6_Silent_p.S32953S|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN_ENST00000460472.2_Silent_p.S26456S|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN_ENST00000342175.6_Silent_p.S26648S|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Silent_p.S26581S|TTN-AS1_ENST00000592161.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN_ENST00000589042.1_Silent_p.S35521S|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000587576.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000456053.1_RNA			Q8WZ42	TITIN_HUMAN	titin	33880					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)			TCTTTTGTGTAGAGACTTTCT	0.378																																					p.S35521S		Atlas-SNP	.											.	TTN	18412	.	0			c.T106563C						.						19.0	18.0	19.0					2																	179393915		1799	4058	5857	SO:0001819	synonymous_variant	7273	exon360			TTGTGTAGAGACT	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.101640T>C	chr2.hg19:g.179393915A>G		99.0	0.0		63.0	4.0	NM_001267550	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	Silent	SNP	ENST00000591111.1	hg19																																																																																				.	.		0.378	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	hgsc.bcm.edu	37	2	179396537	179396537	+	Silent	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr2:179396537A>G	ENST00000591111.1	-	308	100106	c.99882T>C	c.(99880-99882)ccT>ccC	p.P33294P	TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN_ENST00000342992.6_Silent_p.P32367P|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN_ENST00000460472.2_Silent_p.P25870P|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN_ENST00000342175.6_Silent_p.P26062P|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Silent_p.P25995P|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN_ENST00000589042.1_Silent_p.P34935P|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000456053.1_RNA			Q8WZ42	TITIN_HUMAN	titin	33294					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)			CCAGTGTGAAAGGCTGCTGAC	0.423																																					p.P34935P		Atlas-SNP	.											.	TTN	18412	.	0			c.T104805C						.						64.0	63.0	63.0					2																	179396537		1990	4159	6149	SO:0001819	synonymous_variant	7273	exon358			TGTGAAAGGCTGC	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.99882T>C	chr2.hg19:g.179396537A>G		242.0	0.0		144.0	43.0	NM_001267550	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	Silent	SNP	ENST00000591111.1	hg19																																																																																				.	.		0.423	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	hgsc.bcm.edu	37	2	179458397	179458397	+	Missense_Mutation	SNP	G	G	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr2:179458397G>T	ENST00000591111.1	-	248	53931	c.53707C>A	c.(53707-53709)Cta>Ata	p.L17903I	TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L16976I|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.L10479I|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L10671I|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L10604I|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.L19544I|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000456053.1_RNA			Q8WZ42	TITIN_HUMAN	titin	17903	Fibronectin type-III 29. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)			CCTTCAAGTAGTTTAGAAACT	0.358																																					p.L19544I		Atlas-SNP	.											.	TTN	18412	.	0			c.C58630A						.						97.0	92.0	93.0					2																	179458397		1853	4089	5942	SO:0001583	missense	7273	exon298			CAAGTAGTTTAGA	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.53707C>A	chr2.hg19:g.179458397G>T	ENSP00000465570:p.Leu17903Ile	269.0	0.0		201.0	56.0	NM_001267550	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		.	.	.	.	.	.	.	.	.	.	G	9.206	1.029740	0.19512	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	D;D;D;D	0.84516	-1.86;-1.86;-1.86;-1.86	6.02	2.88	0.33553	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.94331	0.8178	H	0.96996	3.92	0.45452	D	0.998423	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	D	0.94927	0.8079	9	0.87932	D	0	.	12.0732	0.53628	0.2571:0.0:0.7429:0.0	.	10479;10604;10671;17903	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	I	16976;10479;10671;10604;10477	ENSP00000343764:L16976I;ENSP00000434586:L10479I;ENSP00000340554:L10671I;ENSP00000352154:L10604I	ENSP00000340554:L10671I	L	-	1	2	TTN	179166643	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	5.478000	0.66806	0.895000	0.36342	-0.808000	0.03180	CTA	.	.		0.358	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	hgsc.bcm.edu	37	2	179605820	179605820	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr2:179605820T>C	ENST00000591111.1	-	46	11413	c.11189A>G	c.(11188-11190)gAg>gGg	p.E3730G	TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E3684G|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E3876G|TTN_ENST00000359218.5_Missense_Mutation_p.E3809G|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E4047G			Q8WZ42	TITIN_HUMAN	titin	33770					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)			CTCAGGAGCCTCTGGTGTGGA	0.493																																					p.E4047G		Atlas-SNP	.											.	TTN	18412	.	0			c.A12140G						.						144.0	142.0	142.0					2																	179605820		1871	4110	5981	SO:0001583	missense	7273	exon48			GGAGCCTCTGGTG	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.11189A>G	chr2.hg19:g.179605820T>C	ENSP00000465570:p.Glu3730Gly	81.0	0.0		59.0	4.0	NM_001267550	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		.	.	.	.	.	.	.	.	.	.	T	11.11	1.542616	0.27563	.	.	ENSG00000155657	ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T	0.60672	0.19;0.18;0.17	5.65	1.71	0.24356	.	.	.	.	.	T	0.32645	0.0836	N	0.11560	0.145	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.24154	-1.0168	9	0.87932	D	0	.	2.1101	0.03701	0.1301:0.1544:0.1346:0.5809	.	3684;3809;3876	D3DPF9;E7EQE6;E7ET18	.;.;.	G	3684;3876;3809;3684	ENSP00000434586:E3684G;ENSP00000340554:E3876G;ENSP00000352154:E3809G	ENSP00000340554:E3876G	E	-	2	0	TTN	179314065	0.000000	0.05858	0.055000	0.19348	0.125000	0.20455	-0.152000	0.10159	0.491000	0.27793	0.533000	0.62120	GAG	.	.		0.493	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
COL5A2	1290	hgsc.bcm.edu	37	2	189950498	189950498	+	Splice_Site	SNP	C	C	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr2:189950498C>T	ENST00000374866.3	-	10	965	c.691G>A	c.(691-693)Ggt>Agt	p.G231S		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	231					axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CCTGCACCACCCTACAGTTGA	0.413																																					p.G231S		Atlas-SNP	.											.	COL5A2	230	.	0			c.G691A						.						78.0	75.0	76.0					2																	189950498		2203	4300	6503	SO:0001630	splice_region_variant	1290	exon10			CACCACCCTACAG	Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"""Collagens"""	2210	protein-coding gene	gene with protein product	"""AB collagen"""	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.691-1G>A	chr2.hg19:g.189950498C>T		56.0	0.0		55.0	4.0	NM_000393	P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Missense_Mutation	SNP	ENST00000374866.3	hg19	CCDS33350.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.752884	0.89753	.	.	ENSG00000204262	ENST00000374866;ENST00000452536	D	0.99329	-5.75	5.99	5.99	0.97316	.	0.000000	0.56097	D	0.000040	D	0.99722	0.9892	H	0.99026	4.405	0.80722	D	1	D	0.76494	0.999	D	0.97110	1.0	D	0.97362	0.9970	9	.	.	.	.	17.3945	0.87441	0.0:1.0:0.0:0.0	.	231	P05997	CO5A2_HUMAN	S	231;48	ENSP00000364000:G231S	.	G	-	1	0	COL5A2	189658743	1.000000	0.71417	1.000000	0.80357	0.679000	0.39708	3.904000	0.56325	2.840000	0.97914	0.655000	0.94253	GGT	.	.		0.413	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313523.1	NM_000393	Missense_Mutation
AOX1	316	hgsc.bcm.edu	37	2	201502979	201502979	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr2:201502979A>G	ENST00000374700.2	+	23	2763	c.2522A>G	c.(2521-2523)gAc>gGc	p.D841G	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	841					inflammatory response (GO:0006954)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	2 iron, 2 sulfur cluster binding (GO:0051537)|aldehyde oxidase activity (GO:0004031)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|NAD binding (GO:0051287)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Allopurinol(DB00437)|Aminocaproic Acid(DB00513)|Brimonidine(DB00484)|Famciclovir(DB00426)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Pyrazinamide(DB00339)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	CGAGGAGAAGACATGTTAATA	0.443																																					p.D841G		Atlas-SNP	.											.	AOX1	152	.	0			c.A2522G						.						150.0	136.0	141.0					2																	201502979		2203	4300	6503	SO:0001583	missense	316	exon23			GAGAAGACATGTT	AF017060	CCDS33360.1	2q33	2008-05-20			ENSG00000138356	ENSG00000138356			553	protein-coding gene	gene with protein product		602841				7570184	Standard	NM_001159		Approved	AO, AOH1	uc002uvx.3	Q06278	OTTHUMG00000154536	ENST00000374700.2:c.2522A>G	chr2.hg19:g.201502979A>G	ENSP00000363832:p.Asp841Gly	141.0	0.0		91.0	4.0	NM_001159	O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Missense_Mutation	SNP	ENST00000374700.2	hg19	CCDS33360.1	.	.	.	.	.	.	.	.	.	.	A	27.2	4.811773	0.90707	.	.	ENSG00000138356	ENST00000374700	T	0.41758	0.99	5.35	5.35	0.76521	Aldehyde oxidase/xanthine dehydrogenase, molybdopterin binding (3);	0.000000	0.85682	D	0.000000	T	0.77831	0.4189	H	0.98612	4.28	0.80722	D	1	D	0.60575	0.988	D	0.71414	0.973	D	0.86836	0.2014	10	0.87932	D	0	-71.5759	15.4951	0.75643	1.0:0.0:0.0:0.0	.	841	Q06278	ADO_HUMAN	G	841	ENSP00000363832:D841G	ENSP00000363832:D841G	D	+	2	0	AOX1	201211224	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.546000	0.90661	2.247000	0.74100	0.482000	0.46254	GAC	.	.		0.443	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335844.1	NM_001159	
CARF	79800	hgsc.bcm.edu	37	2	203817314	203817314	+	Missense_Mutation	SNP	G	G	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr2:203817314G>T	ENST00000402905.3	+	5	660	c.339G>T	c.(337-339)caG>caT	p.Q113H	CARF_ENST00000434998.1_Missense_Mutation_p.Q11H|CARF_ENST00000545262.1_Missense_Mutation_p.Q37H|CARF_ENST00000320443.8_Missense_Mutation_p.Q113H|CARF_ENST00000444724.1_Missense_Mutation_p.Q113H|CARF_ENST00000438828.2_Missense_Mutation_p.Q113H|CARF_ENST00000456821.2_Missense_Mutation_p.Q101H|CARF_ENST00000428585.1_Missense_Mutation_p.Q37H|CARF_ENST00000471271.1_3'UTR|CARF_ENST00000545253.1_Missense_Mutation_p.Q25H|WDR12_ENST00000477723.1_Intron|CARF_ENST00000414439.1_Missense_Mutation_p.Q11H	NM_001104586.1|NM_001282910.1|NM_001282911.1|NM_001282912.1	NP_001098056.1|NP_001269839.1|NP_001269840.1|NP_001269841.1	Q8N187	CARTF_HUMAN	calcium responsive transcription factor	113					cellular response to calcium ion (GO:0071277)|cellular response to potassium ion (GO:0035865)|positive regulation of transcription from RNA polymerase II promoter in response to calcium ion (GO:0061400)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)										AAAATGGACAGGTACTTCGTG	0.393																																					p.Q113H		Atlas-SNP	.											.	ALS2CR8	56	.	0			c.G339T						.						147.0	130.0	136.0					2																	203817314		1858	4107	5965	SO:0001583	missense	79800	exon6			TGGACAGGTACTT	AB053309	CCDS42801.1, CCDS63091.1	2q33.3	2013-06-12	2013-06-12	2013-06-12	ENSG00000138380	ENSG00000138380			14435	protein-coding gene	gene with protein product	"""calcium-response factor"""	607586	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 8"""	ALS2CR8		11586298, 11832226	Standard	XM_005246858		Approved	FLJ21579, CaRF, NYD-SP24	uc002uzo.2	Q8N187	OTTHUMG00000154528	ENST00000402905.3:c.339G>T	chr2.hg19:g.203817314G>T	ENSP00000384006:p.Gln113His	114.0	0.0		61.0	5.0	NM_024744	B4E1W7|G3V1K7|Q8ND29|Q8WXC0|Q96J78|Q96Q38|Q96Q39|Q9H712	Missense_Mutation	SNP	ENST00000402905.3	hg19	CCDS42801.1	.	.	.	.	.	.	.	.	.	.	G	19.89	3.910357	0.72983	.	.	ENSG00000138380	ENST00000402905;ENST00000431787;ENST00000444724;ENST00000414857;ENST00000414439;ENST00000428585;ENST00000545253;ENST00000545262;ENST00000447539;ENST00000456821;ENST00000434998;ENST00000320443;ENST00000438828	.	.	.	5.46	3.65	0.41850	.	0.116572	0.38492	N	0.001675	T	0.58323	0.2114	M	0.61703	1.905	0.32583	N	0.528232	D;D;D;D;P	0.64830	0.963;0.963;0.994;0.963;0.937	P;P;P;P;P	0.60473	0.81;0.875;0.875;0.81;0.824	T	0.67848	-0.5564	9	0.87932	D	0	-0.078	8.3599	0.32353	0.2388:0.0:0.7612:0.0	.	25;37;113;113;113	B4DIA7;G3V1K7;B4DRP6;Q8N187;F6SXV3	.;.;.;AL2S8_HUMAN;.	H	113;83;113;113;11;37;25;37;37;101;11;113;113	.	ENSP00000316224:Q113H	Q	+	3	2	ALS2CR8	203525559	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	1.484000	0.35508	0.671000	0.31185	0.467000	0.42956	CAG	.	.		0.393	CARF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335768.5	NM_001104586	
INO80D	54891	hgsc.bcm.edu	37	2	206893049	206893049	+	Missense_Mutation	SNP	C	C	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr2:206893049C>T	ENST00000403263.1	-	6	1488	c.1084G>A	c.(1084-1086)Gat>Aat	p.D362N	Y_RNA_ENST00000384656.1_RNA	NM_017759.4	NP_060229.3	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	362	Poly-Asp.				DNA recombination (GO:0006310)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						TCCGCATCATCATCATCTGAC	0.458																																					p.D362N		Atlas-SNP	.											.	INO80D	134	.	0			c.G1084A						.						65.0	64.0	65.0					2																	206893049		1933	4152	6085	SO:0001583	missense	54891	exon6			CATCATCATCATC		CCDS46500.1	2q33.3	2011-07-06			ENSG00000114933	ENSG00000114933		"""INO80 complex subunits"""	25997	protein-coding gene	gene with protein product						16230350	Standard	NM_017759		Approved	FLJ20309	uc002vaz.4	Q53TQ3	OTTHUMG00000154649	ENST00000403263.1:c.1084G>A	chr2.hg19:g.206893049C>T	ENSP00000384198:p.Asp362Asn	61.0	0.0		59.0	4.0	NM_017759	B3KU68|B9EG77|Q6PJC6|Q6PJU1|Q6PKA1|Q9NXD5	Missense_Mutation	SNP	ENST00000403263.1	hg19	CCDS46500.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.431849	0.83776	.	.	ENSG00000114933	ENST00000403263;ENST00000233270;ENST00000424117	T;T	0.52754	0.65;0.65	5.45	5.45	0.79879	.	0.049789	0.85682	D	0.000000	T	0.45013	0.1321	L	0.27053	0.805	0.45528	D	0.998489	P	0.40731	0.728	P	0.46076	0.503	T	0.17806	-1.0357	10	0.22109	T	0.4	.	19.2666	0.93988	0.0:1.0:0.0:0.0	.	362	Q53TQ3-2	.	N	362;362;257	ENSP00000384198:D362N;ENSP00000402369:D257N	ENSP00000233270:D362N	D	-	1	0	INO80D	206601294	1.000000	0.71417	0.788000	0.31933	0.646000	0.38490	6.761000	0.74945	2.555000	0.86185	0.591000	0.81541	GAT	.	.		0.458	INO80D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336459.1	NM_017759	
ZDBF2	57683	hgsc.bcm.edu	37	2	207175357	207175357	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr2:207175357G>A	ENST00000374423.3	+	5	6491	c.6105G>A	c.(6103-6105)tgG>tgA	p.W2035*		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	2035							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						ACCATAGTTGGGATAATGATA	0.358																																					p.W2035X		Atlas-SNP	.											.	ZDBF2	531	.	0			c.G6105A						.						26.0	24.0	25.0					2																	207175357		1828	4074	5902	SO:0001587	stop_gained	57683	exon5			TAGTTGGGATAAT	AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.6105G>A	chr2.hg19:g.207175357G>A	ENSP00000363545:p.Trp2035*	119.0	0.0		73.0	5.0	NM_020923	Q6ZNP7|Q6ZSN8	Nonsense_Mutation	SNP	ENST00000374423.3	hg19	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	G	46	12.441704	0.99668	.	.	ENSG00000204186	ENST00000374423	.	.	.	5.49	-0.144	0.13440	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	1.9505	0.03365	0.1544:0.1464:0.3828:0.3164	.	.	.	.	X	2035	.	ENSP00000363545:W2035X	W	+	3	0	ZDBF2	206883602	0.000000	0.05858	0.001000	0.08648	0.125000	0.20455	-0.476000	0.06591	0.278000	0.22164	0.563000	0.77884	TGG	.	.		0.358	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923	
ABCA12	26154	hgsc.bcm.edu	37	2	215807647	215807647	+	Splice_Site	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr2:215807647A>G	ENST00000272895.7	-	50	7656		c.e50+1		ABCA12_ENST00000389661.4_Splice_Site|AC072062.1_ENST00000607412.1_RNA	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12						cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TTTGTTCTTCACCTGCTCTTT	0.393																																					.	Ovarian(66;664 1488 5121 34295)	Atlas-SNP	.											.	ABCA12	368	.	0			c.6482+2T>C						.						112.0	99.0	104.0					2																	215807647		2203	4300	6503	SO:0001630	splice_region_variant	26154	exon43			TTCTTCACCTGCT	AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.7436+1T>C	chr2.hg19:g.215807647A>G		114.0	0.0		85.0	4.0	NM_015657	Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Splice_Site	SNP	ENST00000272895.7	hg19	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.574876	0.86542	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	.	.	.	5.65	5.65	0.86999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.827	0.78718	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ABCA12	215515892	1.000000	0.71417	0.989000	0.46669	0.922000	0.55478	8.971000	0.93419	2.276000	0.75962	0.528000	0.53228	.	.	.		0.393	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076	Intron
TNS1	7145	hgsc.bcm.edu	37	2	218712293	218712293	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr2:218712293A>G	ENST00000171887.4	-	17	3024	c.2572T>C	c.(2572-2574)Tcc>Ccc	p.S858P	TNS1_ENST00000430930.1_Missense_Mutation_p.S858P|TNS1_ENST00000480665.1_5'Flank|TNS1_ENST00000419504.1_Missense_Mutation_p.S858P	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	858					cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		GGAGTCCGGGAGGGGTCTGAA	0.597																																					p.S858P		Atlas-SNP	.											.	TNS1	251	.	0			c.T2572C						.						71.0	80.0	77.0					2																	218712293		2203	4300	6503	SO:0001583	missense	7145	exon17			TCCGGGAGGGGTC	AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"", ""SH2 domain containing"""	11973	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 155"""	600076	"""tensin"", ""matrix-remodelling associated 6"""	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.2572T>C	chr2.hg19:g.218712293A>G	ENSP00000171887:p.Ser858Pro	135.0	0.0		107.0	5.0	NM_022648	Q4ZG71|Q6IPI5	Missense_Mutation	SNP	ENST00000171887.4	hg19	CCDS2407.1	.	.	.	.	.	.	.	.	.	.	A	11.07	1.529497	0.27387	.	.	ENSG00000079308	ENST00000171887;ENST00000419504;ENST00000430930	D;D;D	0.91843	-2.91;-2.92;-2.91	4.31	4.31	0.51392	.	0.331813	0.27258	N	0.020189	D	0.89884	0.6844	L	0.27053	0.805	0.80722	D	1	P;D;D;D;D	0.67145	0.808;0.996;0.996;0.988;0.988	P;P;P;P;P	0.53313	0.461;0.676;0.676;0.723;0.676	D	0.88780	0.3270	10	0.33141	T	0.24	.	13.6499	0.62304	1.0:0.0:0.0:0.0	.	858;912;858;858;858	B2RU35;A1L0S7;Q9HBL0;E9PGF5;E9PF55	.;.;TENS1_HUMAN;.;.	P	858	ENSP00000171887:S858P;ENSP00000408724:S858P;ENSP00000406016:S858P	ENSP00000171887:S858P	S	-	1	0	TNS1	218420538	0.902000	0.30710	0.999000	0.59377	0.781000	0.44180	1.146000	0.31589	1.795000	0.52594	0.379000	0.24179	TCC	.	.		0.597	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256672.2	NM_022648	
ARPC2	10109	hgsc.bcm.edu	37	2	219114132	219114132	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr2:219114132T>C	ENST00000295685.10	+	8	983	c.722T>C	c.(721-723)aTc>aCc	p.I241T	ARPC2_ENST00000315717.5_Missense_Mutation_p.I241T|ARPC2_ENST00000477992.1_3'UTR	NM_005731.2	NP_005722.1	O15144	ARPC2_HUMAN	actin related protein 2/3 complex, subunit 2, 34kDa	241					Arp2/3 complex-mediated actin nucleation (GO:0034314)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|Arp2/3 protein complex (GO:0005885)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural constituent of cytoskeleton (GO:0005200)			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	6		Renal(207;0.0474)		Epithelial(149;1.21e-06)|all cancers(144;0.000212)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0103)		GACAACACCATCAACCTGATC	0.542																																					p.I241T		Atlas-SNP	.											.	ARPC2	25	.	0			c.T722C						.						192.0	135.0	154.0					2																	219114132		2203	4300	6503	SO:0001583	missense	10109	exon8			ACACCATCAACCT	AF006085	CCDS2410.1	2q36.1	2011-07-06	2002-08-29		ENSG00000163466	ENSG00000163466		"""Actin related protein 2/3 complex subunits"""	705	protein-coding gene	gene with protein product		604224	"""actin related protein 2/3 complex, subunit 2 (34 kD)"""			9359840, 9230079	Standard	NM_005731		Approved	p34-Arc, ARC34	uc002vhd.4	O15144	OTTHUMG00000133618	ENST00000295685.10:c.722T>C	chr2.hg19:g.219114132T>C	ENSP00000295685:p.Ile241Thr	129.0	0.0		110.0	5.0	NM_005731	Q92801|Q9P1D4	Missense_Mutation	SNP	ENST00000295685.10	hg19	CCDS2410.1	.	.	.	.	.	.	.	.	.	.	T	31	5.065179	0.93898	.	.	ENSG00000163466	ENST00000315717;ENST00000295685;ENST00000456575	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.85741	0.5767	M	0.91300	3.195	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.88443	0.3043	9	0.66056	D	0.02	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	241	O15144	ARPC2_HUMAN	T	241;241;56	.	ENSP00000295685:I241T	I	+	2	0	ARPC2	218822377	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.005000	0.88553	2.371000	0.80710	0.533000	0.62120	ATC	.	.		0.542	ARPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256777.2	NM_005731	
GPBAR1	151306	hgsc.bcm.edu	37	2	219127978	219127978	+	Silent	SNP	C	C	T	rs200360810		TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr2:219127978C>T	ENST00000522678.1	+	2	1399	c.531C>T	c.(529-531)gcC>gcT	p.A177A	GPBAR1_ENST00000479077.1_Silent_p.A177A|GPBAR1_ENST00000521462.1_Silent_p.A177A|GPBAR1_ENST00000519574.1_Silent_p.A177A	NM_001077191.1	NP_001070659.1	Q8TDU6	GPBAR_HUMAN	G protein-coupled bile acid receptor 1	177					cell surface bile acid receptor signaling pathway (GO:0038184)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid receptor activity (GO:0038181)|G-protein coupled bile acid receptor activity (GO:0038182)			cervix(1)|kidney(1)|large_intestine(1)|ovary(1)	4		Renal(207;0.0474)		Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGCTGCCCGCCGTGGGTGCTG	0.672																																					p.A177A		Atlas-SNP	.											.	GPBAR1	22	.	0			c.C531T						.	C	,,	0,4114		0,0,2057	38.0	40.0	39.0		531,531,531	-7.5	0.0	2		39	1,8379		0,1,4189	no	coding-synonymous,coding-synonymous,coding-synonymous	GPBAR1	NM_001077191.1,NM_001077194.1,NM_170699.2	,,	0,1,6246	TT,TC,CC		0.0119,0.0,0.0080	,,	177/331,177/331,177/331	219127978	1,12493	2057	4190	6247	SO:0001819	synonymous_variant	151306	exon2			GCCCGCCGTGGGT	AB086170	CCDS46515.1	2q35	2012-08-08			ENSG00000179921	ENSG00000179921			19680	protein-coding gene	gene with protein product		610147				12419312	Standard	NM_170699		Approved	BG37, GPCR, TGR5, M-BAR, GPCR19, GPR131, MGC40597	uc010zjw.1	Q8TDU6	OTTHUMG00000155203	ENST00000522678.1:c.531C>T	chr2.hg19:g.219127978C>T		108.0	0.0		89.0	4.0	NM_170699	B3KV35	Silent	SNP	ENST00000522678.1	hg19	CCDS46515.1																																																																																			.	.		0.672	GPBAR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338767.3	NM_001077191	
SLC11A1	6556	hgsc.bcm.edu	37	2	219251389	219251389	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr2:219251389A>G	ENST00000233202.6	+	5	765	c.425A>G	c.(424-426)gAg>gGg	p.E142G	SLC11A1_ENST00000539932.1_Missense_Mutation_p.E24G|SLC11A1_ENST00000473367.1_3'UTR	NM_000578.3	NP_000569.3	P49279	NRAM1_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1	142					activation of protein kinase activity (GO:0032147)|antigen processing and presentation of peptide antigen (GO:0048002)|cadmium ion transmembrane transport (GO:0070574)|cellular cadmium ion homeostasis (GO:0006876)|cellular iron ion homeostasis (GO:0006879)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|defense response to protozoan (GO:0042832)|divalent metal ion export (GO:0070839)|inflammatory response (GO:0006954)|interaction with host (GO:0051701)|interleukin-2 production (GO:0032623)|interleukin-3 production (GO:0032632)|iron ion homeostasis (GO:0055072)|iron ion transport (GO:0006826)|L-arginine import (GO:0043091)|macrophage activation (GO:0042116)|manganese ion transport (GO:0006828)|MHC class II biosynthetic process (GO:0045342)|mRNA stabilization (GO:0048255)|multicellular organismal iron ion homeostasis (GO:0060586)|negative regulation of cytokine production (GO:0001818)|nitrite transport (GO:0015707)|phagocytosis (GO:0006909)|phagosome maturation (GO:0090382)|positive regulation of cytokine production (GO:0001819)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of gene expression (GO:0010628)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of phagocytosis (GO:0050766)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein import into nucleus, translocation (GO:0000060)|respiratory burst (GO:0045730)|response to bacterium (GO:0009617)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)|T cell cytokine production (GO:0002369)|T cell proliferation involved in immune response (GO:0002309)|transmembrane transport (GO:0055085)|vacuolar acidification (GO:0007035)|wound healing (GO:0042060)	cell outer membrane (GO:0009279)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|late endosome membrane (GO:0031902)|lysosome (GO:0005764)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|tertiary granule membrane (GO:0070821)	manganese ion transmembrane transporter activity (GO:0005384)|metal ion:proton antiporter activity (GO:0051139)|protein homodimerization activity (GO:0042803)|transition metal ion transmembrane transporter activity (GO:0046915)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTGACCATCGAGCTAGCCATT	0.567																																					p.E142G		Atlas-SNP	.											.	SLC11A1	41	.	0			c.A425G						.						89.0	73.0	78.0					2																	219251389		2203	4300	6503	SO:0001583	missense	6556	exon5			CCATCGAGCTAGC	D38171	CCDS2415.1	2q35	2013-07-18	2013-07-18		ENSG00000018280	ENSG00000018280		"""Solute carriers"""	10907	protein-coding gene	gene with protein product	"""natural resistance-associated macrophage protein 1"""	600266		LSH, NRAMP, NRAMP1		7964458, 7980580	Standard	NM_000578		Approved		uc002vhv.3	P49279	OTTHUMG00000086747	ENST00000233202.6:c.425A>G	chr2.hg19:g.219251389A>G	ENSP00000233202:p.Glu142Gly	43.0	0.0		24.0	4.0	NM_000578	C0H5Y3	Missense_Mutation	SNP	ENST00000233202.6	hg19	CCDS2415.1	.	.	.	.	.	.	.	.	.	.	A	17.55	3.418765	0.62622	.	.	ENSG00000018280	ENST00000233202;ENST00000539932	T;T	0.73258	-0.73;-0.73	5.24	4.1	0.47936	.	0.000000	0.85682	D	0.000000	D	0.88966	0.6581	H	0.97874	4.095	0.58432	D	0.99999	D;D;D	0.89917	0.997;1.0;1.0	D;D;D	0.97110	0.942;1.0;1.0	D	0.91059	0.4884	10	0.87932	D	0	-18.546	11.0891	0.48104	0.9279:0.0:0.0721:0.0	.	142;24;142	B4DQ73;C0H5Y3;P49279	.;.;NRAM1_HUMAN	G	142;24	ENSP00000233202:E142G;ENSP00000443435:E24G	ENSP00000233202:E142G	E	+	2	0	SLC11A1	218959633	1.000000	0.71417	0.992000	0.48379	0.001000	0.01503	6.846000	0.75399	1.128000	0.42052	0.533000	0.62120	GAG	.	.		0.567	SLC11A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195076.2	NM_000578	
CYP27A1	1593	hgsc.bcm.edu	37	2	219674345	219674345	+	Missense_Mutation	SNP	G	G	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr2:219674345G>A	ENST00000258415.4	+	2	728	c.301G>A	c.(301-303)Ggg>Agg	p.G101R		NM_000784.3	NP_000775.1	Q02318	CP27A_HUMAN	cytochrome P450, family 27, subfamily A, polypeptide 1	101					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cholesterol metabolic process (GO:0008203)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)	cholestanetriol 26-monooxygenase activity (GO:0047749)|cholesterol 26-hydroxylase activity (GO:0031073)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid hydroxylase activity (GO:0008395)|vitamin D3 25-hydroxylase activity (GO:0030343)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(3)|urinary_tract(1)	26		Renal(207;0.0474)		Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981)	Chenodeoxycholic acid(DB06777)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Pegvisomant(DB00082)	GTCCTACTTAGGGCCTCAGAT	0.547																																					p.G101R		Atlas-SNP	.											.	CYP27A1	52	.	0			c.G301A						.						146.0	130.0	136.0					2																	219674345		2203	4300	6503	SO:0001583	missense	1593	exon2			TACTTAGGGCCTC	BC017044	CCDS2423.1	2q35	2013-09-19	2003-01-14		ENSG00000135929	ENSG00000135929		"""Cytochrome P450s"""	2605	protein-coding gene	gene with protein product	"""cerebrotendinous xanthomatosis"""	606530	"""cytochrome P450, subfamily XXVIIA (steroid 27-hydroxylase, cerebrotendinous xanthomatosis), polypeptide 1"""	CYP27		2019602	Standard	NM_000784		Approved	CTX, CP27	uc002viz.4	Q02318	OTTHUMG00000048238	ENST00000258415.4:c.301G>A	chr2.hg19:g.219674345G>A	ENSP00000258415:p.Gly101Arg	70.0	0.0		75.0	20.0	NM_000784	A8K303|Q6LDB4|Q86YQ6	Missense_Mutation	SNP	ENST00000258415.4	hg19	CCDS2423.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.237492	0.79800	.	.	ENSG00000135929	ENST00000258415;ENST00000411688	T;T	0.73789	-0.78;-0.78	5.67	4.76	0.60689	.	0.300622	0.34291	N	0.004081	D	0.85452	0.5700	M	0.82056	2.57	0.58432	D	0.999999	D	0.59357	0.985	D	0.64776	0.929	D	0.86770	0.1972	10	0.59425	D	0.04	-23.2629	15.7687	0.78146	0.0:0.1358:0.8642:0.0	.	101	Q02318	CP27A_HUMAN	R	101;7	ENSP00000258415:G101R;ENSP00000392671:G7R	ENSP00000258415:G101R	G	+	1	0	CYP27A1	219382589	1.000000	0.71417	0.056000	0.19401	0.012000	0.07955	7.895000	0.87343	2.677000	0.91161	0.655000	0.94253	GGG	.	.		0.547	CYP27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109734.4		
ATG9A	79065	hgsc.bcm.edu	37	2	220088702	220088702	+	Missense_Mutation	SNP	C	C	A	rs186498321		TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr2:220088702C>A	ENST00000409618.1	-	9	1747	c.1308G>T	c.(1306-1308)caG>caT	p.Q436H	AC068946.1_ENST00000408417.1_RNA|ATG9A_ENST00000409422.1_Missense_Mutation_p.Q375H|ATG9A_ENST00000488833.1_5'Flank|ATG9A_ENST00000396761.2_Missense_Mutation_p.Q436H|ATG9A_ENST00000361242.4_Missense_Mutation_p.Q436H			Q7Z3C6	ATG9A_HUMAN	autophagy related 9A	436					autophagic vacuole assembly (GO:0000045)|late nucleophagy (GO:0044805)|mitochondrion degradation (GO:0000422)|piecemeal microautophagy of nucleus (GO:0034727)|protein localization to pre-autophagosomal structure (GO:0034497)|protein transport (GO:0015031)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|pre-autophagosomal structure (GO:0000407)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)				endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(1)	13		Renal(207;0.0474)		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CGCGGAGCAGCTGCTCAGGGC	0.587																																					p.Q436H		Atlas-SNP	.											.	ATG9A	50	.	0			c.G1308T						.						95.0	105.0	102.0					2																	220088702		2179	4278	6457	SO:0001583	missense	79065	exon9			GAGCAGCTGCTCA	AK021732	CCDS42820.1	2q35	2014-02-12	2012-06-06	2005-09-11	ENSG00000198925	ENSG00000198925			22408	protein-coding gene	gene with protein product		612204	"""APG9 autophagy 9-like 1 (S. cerevisiae)"", ""ATG9 autophagy related 9 homolog A (S. cerevisiae)"""	APG9L1			Standard	NM_024085		Approved	FLJ22169	uc002vkf.1	Q7Z3C6	OTTHUMG00000154557	ENST00000409618.1:c.1308G>T	chr2.hg19:g.220088702C>A	ENSP00000386710:p.Gln436His	159.0	0.0		101.0	5.0	NM_001077198	Q3ZAQ6|Q6P0N7|Q7Z317|Q7Z320|Q8NDK6|Q8WU65|Q9BVL5|Q9H6L1|Q9HAG7	Missense_Mutation	SNP	ENST00000409618.1	hg19	CCDS42820.1	.	.	.	.	.	.	.	.	.	.	C	18.54	3.645715	0.67358	.	.	ENSG00000198925	ENST00000396761;ENST00000409618;ENST00000361242;ENST00000409422	T;T;T;T	0.33654	1.81;1.81;1.81;1.4	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.61350	0.2340	M	0.76838	2.35	0.80722	D	1	D	0.69078	0.997	D	0.83275	0.996	T	0.55792	-0.8085	10	0.15952	T	0.53	-12.1268	19.4905	0.95048	0.0:1.0:0.0:0.0	.	436	Q7Z3C6	ATG9A_HUMAN	H	436;436;436;375	ENSP00000379983:Q436H;ENSP00000386710:Q436H;ENSP00000355173:Q436H;ENSP00000386535:Q375H	ENSP00000355173:Q436H	Q	-	3	2	ATG9A	219796946	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.912000	0.69948	2.601000	0.87937	0.585000	0.79938	CAG	.	C|0.999;T|0.001		0.587	ATG9A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335930.1	NM_024085	
ANKZF1	55139	hgsc.bcm.edu	37	2	220097005	220097005	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr2:220097005G>A	ENST00000323348.5	+	4	459	c.285G>A	c.(283-285)tgG>tgA	p.W95*	ATG9A_ENST00000409422.1_5'Flank|ATG9A_ENST00000488833.1_5'Flank|ATG9A_ENST00000396761.2_5'Flank|ATG9A_ENST00000361242.4_5'Flank|ANKZF1_ENST00000409849.1_Intron|ANKZF1_ENST00000410034.3_Nonsense_Mutation_p.W95*|ATG9A_ENST00000409618.1_5'Flank	NM_018089.2	NP_060559.2	Q9H8Y5	ANKZ1_HUMAN	ankyrin repeat and zinc finger domain containing 1	95						membrane (GO:0016020)	metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGCTTGACTGGCATCGGTTTA	0.488																																					p.W95X		Atlas-SNP	.											.	ANKZF1	45	.	0			c.G285A						.						125.0	119.0	121.0					2																	220097005		1921	4122	6043	SO:0001587	stop_gained	55139	exon4			TGACTGGCATCGG	AF364318	CCDS42821.1, CCDS63129.1	2q35	2013-01-10			ENSG00000163516	ENSG00000163516		"""Zinc fingers, C2H2-type"", ""Ankyrin repeat domain containing"""	25527	protein-coding gene	gene with protein product						12477932	Standard	NM_018089		Approved	FLJ10415, ZNF744	uc002vkg.3	Q9H8Y5	OTTHUMG00000154533	ENST00000323348.5:c.285G>A	chr2.hg19:g.220097005G>A	ENSP00000321617:p.Trp95*	156.0	0.0		101.0	5.0	NM_001042410	Q9NVZ4	Nonsense_Mutation	SNP	ENST00000323348.5	hg19	CCDS42821.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.393593	0.83011	.	.	ENSG00000163516	ENST00000323348;ENST00000453432;ENST00000410034;ENST00000447157	.	.	.	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.2836	18.8393	0.92176	0.0:0.0:1.0:0.0	.	.	.	.	X	95;30;95;95	.	ENSP00000321617:W95X	W	+	3	0	ANKZF1	219805249	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.841000	0.92131	2.676000	0.91093	0.655000	0.94253	TGG	.	.		0.488	ANKZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335790.1	NM_018089	
DNPEP	23549	hgsc.bcm.edu	37	2	220251108	220251108	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr2:220251108T>C	ENST00000273075.4	-	5	579	c.359A>G	c.(358-360)cAg>cGg	p.Q120R	DNPEP_ENST00000373972.1_Missense_Mutation_p.Q45R|DNPEP_ENST00000523282.1_Missense_Mutation_p.Q128R|AC053503.4_ENST00000420563.1_RNA	NM_012100.2	NP_036232	Q9ULA0	DNPEP_HUMAN	aspartyl aminopeptidase	110					peptide metabolic process (GO:0006518)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Renal(207;0.0474)		Epithelial(149;1.09e-06)|all cancers(144;0.000179)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GAAGCCCACCTGGCTGCGGCG	0.537																																					p.Q120R		Atlas-SNP	.											.	DNPEP	40	.	0			c.A359G						.						88.0	95.0	93.0					2																	220251108		2102	4223	6325	SO:0001583	missense	23549	exon5			CCCACCTGGCTGC		CCDS42823.1	2q36.1	2008-05-22			ENSG00000123992	ENSG00000123992			2981	protein-coding gene	gene with protein product		611367				9632644	Standard	NM_012100		Approved	DAP, ASPEP	uc002vle.2	Q9ULA0	OTTHUMG00000058919	ENST00000273075.4:c.359A>G	chr2.hg19:g.220251108T>C	ENSP00000273075:p.Gln120Arg	116.0	0.0		66.0	4.0	NM_012100	Q9BW44|Q9NUV5	Missense_Mutation	SNP	ENST00000273075.4	hg19	CCDS42823.1	.	.	.	.	.	.	.	.	.	.	T	16.25	3.071086	0.55646	.	.	ENSG00000123992	ENST00000273075;ENST00000337010;ENST00000373972;ENST00000523282;ENST00000457935;ENST00000429013;ENST00000521459;ENST00000322176;ENST00000434339;ENST00000430206	.	.	.	5.25	5.25	0.73442	Peptidase M18, domain 2 (1);	0.178753	0.49916	D	0.000124	T	0.41650	0.1168	N	0.12569	0.235	0.50039	D	0.999842	B;B;B;B;B	0.09022	0.0;0.001;0.002;0.001;0.0	B;B;B;B;B	0.12156	0.004;0.007;0.004;0.003;0.004	T	0.27468	-1.0073	9	0.45353	T	0.12	-16.7338	15.1664	0.72828	0.0:0.0:0.0:1.0	.	128;120;128;110;120	E7ETB3;B7Z822;B7Z7F0;Q9ULA0;Q53SB6	.;.;.;DNPEP_HUMAN;.	R	120;120;45;128;128;106;120;120;45;45	.	ENSP00000273075:Q120R	Q	-	2	0	DNPEP	219959352	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.087000	0.50167	1.988000	0.58038	0.459000	0.35465	CAG	.	.		0.537	DNPEP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000130212.1	NM_012100	
TRIP12	9320	hgsc.bcm.edu	37	2	230683119	230683119	+	Silent	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr2:230683119T>C	ENST00000283943.5	-	8	1594	c.1416A>G	c.(1414-1416)acA>acG	p.T472T	TRIP12_ENST00000389044.4_Silent_p.T520T|TRIP12_ENST00000543084.1_Intron|TRIP12_ENST00000389045.3_Silent_p.T175T	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	472					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		ACCCTCCCAGTGTCTCCTCAT	0.448																																					p.T472T		Atlas-SNP	.											.	TRIP12	207	.	0			c.A1416G						.						152.0	146.0	148.0					2																	230683119		2203	4300	6503	SO:0001819	synonymous_variant	9320	exon8			TCCCAGTGTCTCC	L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.1416A>G	chr2.hg19:g.230683119T>C		285.0	0.0		171.0	7.0	NM_004238	D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Silent	SNP	ENST00000283943.5	hg19	CCDS33391.1																																																																																			.	.		0.448	TRIP12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331861.3	NM_004238	
SP140	11262	hgsc.bcm.edu	37	2	231103553	231103553	+	Intron	SNP	G	G	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr2:231103553G>T	ENST00000392045.3	+	3	520				SP140_ENST00000373645.3_Missense_Mutation_p.A162S|SP140_ENST00000420434.3_Intron|SP140_ENST00000350136.5_Intron|SP140_ENST00000417495.3_Intron|SP140_ENST00000486687.2_Intron|SP140_ENST00000544128.1_3'UTR|SP140_ENST00000343805.6_Intron	NM_007237.4	NP_009168.4	Q13342	SP140_HUMAN	SP140 nuclear body protein						defense response (GO:0006952)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		AGAGAGCCTAGCACATACTGG	0.438																																					p.A162S		Atlas-SNP	.											SP140,caecum,carcinoma,0,1	SP140	121	.	0			c.G484T						.						48.0	44.0	45.0					2																	231103553		2186	4253	6439	SO:0001627	intron_variant	11262	exon4			AGCCTAGCACATA	U63420	CCDS33392.1, CCDS42831.1, CCDS63149.1, CCDS63150.1, CCDS63151.1	2q37.1	2013-01-28			ENSG00000079263	ENSG00000079263		"""Zinc fingers, PHD-type"""	17133	protein-coding gene	gene with protein product		608602				8695863, 8910577, 12368356	Standard	NM_001005176		Approved	LYSP100-B, LYSP100-A	uc002vql.3	Q13342	OTTHUMG00000153670	ENST00000392045.3:c.406+457G>T	chr2.hg19:g.231103553G>T		120.0	0.0		80.0	4.0	NM_001005176	E7ESH9|E7EUR5|E9PFJ6|Q0VGE5|Q13341|Q3KR17|Q4ZG66|Q53TG1|Q6NSG4|Q92881|Q96TG3	Missense_Mutation	SNP	ENST00000392045.3	hg19	CCDS42831.1	.	.	.	.	.	.	.	.	.	.	G	9.202	1.028839	0.19512	.	.	ENSG00000079263	ENST00000373645	T	0.50813	0.73	3.24	1.45	0.22620	.	.	.	.	.	T	0.33000	0.0848	.	.	.	0.09310	N	1	B	0.26635	0.155	B	0.23852	0.049	T	0.26643	-1.0097	8	0.59425	D	0.04	.	5.4254	0.16423	0.2599:0.0:0.7401:0.0	.	162	Q6NSG4	.	S	162	ENSP00000362749:A162S	ENSP00000362749:A162S	A	+	1	0	SP140	230811797	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.021000	0.12504	0.404000	0.25506	-0.126000	0.14955	GCA	.	.		0.438	SP140-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000332015.1	NM_007237	
ACKR3	57007	hgsc.bcm.edu	37	2	237489260	237489260	+	Missense_Mutation	SNP	A	A	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr2:237489260A>T	ENST00000272928.3	+	2	462	c.152A>T	c.(151-153)tAc>tTc	p.Y51F		NM_020311.2	NP_064707.1	P25106	ACKR3_HUMAN	atypical chemokine receptor 3	51					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|receptor internalization (GO:0031623)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell surface (GO:0009986)|coated pit (GO:0005905)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	C-X-C chemokine binding (GO:0019958)|C-X-C chemokine receptor activity (GO:0016494)|coreceptor activity (GO:0015026)|scavenger receptor activity (GO:0005044)										TCCTTCATTTACATTTTCATC	0.527																																					p.Y51F		Atlas-SNP	.											.	CXCR7	72	.	0			c.A152T						.						224.0	141.0	169.0					2																	237489260		2203	4300	6503	SO:0001583	missense	57007	exon2			TCATTTACATTTT	BC008459	CCDS2516.1	2q37.3	2013-07-17	2013-07-16	2013-07-16	ENSG00000144476	ENSG00000144476		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : Atypical"""	23692	protein-coding gene	gene with protein product		610376	"""chemokine orphan receptor 1"", ""chemokine (C-X-C motif) receptor 7"""	CMKOR1, CXCR7		16107333, 16148	Standard	NM_020311		Approved	RDC1, GPR159	uc002vwd.3	P25106	OTTHUMG00000133295	ENST00000272928.3:c.152A>T	chr2.hg19:g.237489260A>T	ENSP00000272928:p.Tyr51Phe	140.0	0.0		74.0	5.0	NM_020311	A8K6J4|Q53RV4|Q8NE10|Q92938|Q92986	Missense_Mutation	SNP	ENST00000272928.3	hg19	CCDS2516.1	.	.	.	.	.	.	.	.	.	.	A	15.29	2.789830	0.50102	.	.	ENSG00000144476	ENST00000447924;ENST00000272928	T;T	0.37235	1.21;1.21	5.57	5.57	0.84162	.	0.070524	0.64402	D	0.000016	T	0.27594	0.0678	L	0.27053	0.805	0.38368	D	0.944782	B	0.31383	0.321	B	0.33295	0.161	T	0.24368	-1.0162	10	0.66056	D	0.02	.	10.3839	0.44127	0.9237:0.0:0.0763:0.0	.	51	P25106	CXCR7_HUMAN	F	51	ENSP00000405945:Y51F;ENSP00000272928:Y51F	ENSP00000272928:Y51F	Y	+	2	0	CXCR7	237153999	1.000000	0.71417	0.861000	0.33841	0.726000	0.41606	7.176000	0.77643	2.117000	0.64856	0.460000	0.39030	TAC	.	.		0.527	ACKR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257079.2	NM_020311	
COL6A3	1293	hgsc.bcm.edu	37	2	238270467	238270467	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr2:238270467A>G	ENST00000295550.4	-	15	6523	c.6071T>C	c.(6070-6072)aTt>aCt	p.I2024T	COL6A3_ENST00000472056.1_Missense_Mutation_p.I1417T|COL6A3_ENST00000409809.1_Missense_Mutation_p.I1818T|COL6A3_ENST00000346358.4_Missense_Mutation_p.I1824T|COL6A3_ENST00000347401.3_Missense_Mutation_p.I1823T|COL6A3_ENST00000353578.4_Missense_Mutation_p.I1818T	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2024	Nonhelical region.|VWFA 10. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TTTCTCGGCAATGTTGTCCTA	0.522																																					p.I2024T		Atlas-SNP	.											.	COL6A3	608	.	0			c.T6071C						.						69.0	71.0	71.0					2																	238270467		2203	4300	6503	SO:0001583	missense	1293	exon15			TCGGCAATGTTGT	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.6071T>C	chr2.hg19:g.238270467A>G	ENSP00000295550:p.Ile2024Thr	116.0	0.0		73.0	4.0	NM_004369	A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	hg19	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	A	13.43	2.234444	0.39498	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	T;T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99;0.99	5.38	5.38	0.77491	von Willebrand factor, type A (2);	0.000000	0.53938	D	0.000055	T	0.65144	0.2663	M	0.80746	2.51	0.58432	D	0.999992	D;D;P	0.65815	0.992;0.995;0.954	P;D;P	0.65987	0.905;0.94;0.476	T	0.69083	-0.5239	10	0.52906	T	0.07	.	15.4187	0.74995	1.0:0.0:0.0:0.0	.	1417;1818;2024	E9PFQ6;P12111-2;P12111	.;.;CO6A3_HUMAN	T	2024;1823;1818;1417;1818;1824	ENSP00000295550:I2024T;ENSP00000315609:I1823T;ENSP00000315873:I1818T;ENSP00000418285:I1417T;ENSP00000386844:I1818T;ENSP00000295546:I1824T	ENSP00000295550:I2024T	I	-	2	0	COL6A3	237935206	1.000000	0.71417	0.965000	0.40720	0.831000	0.47069	8.788000	0.91834	2.034000	0.60081	0.528000	0.53228	ATT	.	.		0.522	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369	
PRLH	51052	hgsc.bcm.edu	37	2	238475761	238475761	+	Silent	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr2:238475761A>G	ENST00000165524.1	+	2	207	c.207A>G	c.(205-207)cgA>cgG	p.R69R		NM_015893.1	NP_056977.1	P81277	PRRP_HUMAN	prolactin releasing hormone	69					autonomic nervous system development (GO:0048483)|energy reserve metabolic process (GO:0006112)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|lipid metabolic process (GO:0006629)|reduction of food intake in response to dietary excess (GO:0002023)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	hormone activity (GO:0005179)			endometrium(1)|large_intestine(1)	2		Lung NSC(271;0.142)|all_lung(227;0.175)		Epithelial(121;8.28e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.03e-10)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.19e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000329)|Lung(119;0.0106)|LUSC - Lung squamous cell carcinoma(224;0.0249)		CTGGCCTGCGACCCCGGCTGA	0.662																																					p.R69R		Atlas-SNP	.											.	PRLH	8	.	0			c.A207G						.						44.0	42.0	43.0					2																	238475761		2203	4300	6503	SO:0001819	synonymous_variant	51052	exon2			CCTGCGACCCCGG	AB015419	CCDS2519.1	2q37.3	2013-02-28			ENSG00000071677	ENSG00000071677		"""Endogenous ligands"""	17945	protein-coding gene	gene with protein product		602663				9607765	Standard	NM_015893		Approved	PRH	uc010znl.2	P81277	OTTHUMG00000133296	ENST00000165524.1:c.207A>G	chr2.hg19:g.238475761A>G		237.0	0.0		121.0	5.0	NM_015893		Silent	SNP	ENST00000165524.1	hg19	CCDS2519.1																																																																																			.	.		0.662	PRLH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257081.1	NM_015893	
GPR35	2859	hgsc.bcm.edu	37	2	241570144	241570144	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr2:241570144T>C	ENST00000319838.5	+	6	1717	c.775T>C	c.(775-777)Tac>Cac	p.Y259H	GPR35_ENST00000407714.1_Missense_Mutation_p.Y259H|GPR35_ENST00000403859.1_Missense_Mutation_p.Y259H|GPR35_ENST00000438013.2_Missense_Mutation_p.Y290H|GPR35_ENST00000430267.1_Missense_Mutation_p.Y259H	NM_001195381.1	NP_001182310.1	Q9HC97	GPR35_HUMAN	G protein-coupled receptor 35	259					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(1)|cervix(1)|endometrium(1)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	17		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031)		TCGCGCCCTGTACATAACCAG	0.632																																					p.Y290H		Atlas-SNP	.											.	GPR35	43	.	0			c.T868C						.						157.0	135.0	143.0					2																	241570144		2203	4300	6503	SO:0001583	missense	2859	exon6			GCCCTGTACATAA		CCDS2541.1, CCDS56174.1	2q37.3	2012-08-21			ENSG00000178623	ENSG00000178623		"""GPCR / Class A : Orphans"""	4492	protein-coding gene	gene with protein product		602646				9479505	Standard	NM_005301		Approved		uc021vze.1	Q9HC97	OTTHUMG00000133356	ENST00000319838.5:c.775T>C	chr2.hg19:g.241570144T>C	ENSP00000322731:p.Tyr259His	209.0	0.0		127.0	6.0	NM_001195382	J3KR30|O43495|Q17R58|Q4VBN5|Q4ZFV2|Q6FHI8|Q86UH4	Missense_Mutation	SNP	ENST00000319838.5	hg19	CCDS2541.1	.	.	.	.	.	.	.	.	.	.	T	4.041	0.005171	0.07866	.	.	ENSG00000178623	ENST00000319838;ENST00000403859;ENST00000438013;ENST00000407714;ENST00000430267	T;T;T;T;T	0.37584	1.19;1.19;1.19;1.19;1.19	3.34	-6.69	0.01772	GPCR, rhodopsin-like superfamily (1);	2.219690	0.02422	N	0.082714	T	0.14657	0.0354	N	0.12527	0.23	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.002;0.002;0.001	T	0.14755	-1.0461	10	0.15499	T	0.54	-7.1429	0.2604	0.00217	0.2807:0.1949:0.2863:0.2381	.	344;290;259	Q6ZMP9;A8K2J1;Q9HC97	.;.;GPR35_HUMAN	H	259;259;290;259;259	ENSP00000322731:Y259H;ENSP00000385140:Y259H;ENSP00000415890:Y290H;ENSP00000384263:Y259H;ENSP00000411788:Y259H	ENSP00000322731:Y259H	Y	+	1	0	GPR35	241218817	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-5.454000	0.00121	-1.891000	0.01109	0.254000	0.18369	TAC	.	.		0.632	GPR35-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000325631.1	NM_001195382	
PASK	23178	hgsc.bcm.edu	37	2	242063478	242063478	+	Silent	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr2:242063478T>C	ENST00000405260.1	-	11	3488	c.2790A>G	c.(2788-2790)aaA>aaG	p.K930K	PASK_ENST00000358649.4_Silent_p.K930K|PASK_ENST00000234040.4_Silent_p.K930K|PASK_ENST00000403638.3_Silent_p.K930K|PASK_ENST00000539818.1_Silent_p.K714K|PASK_ENST00000544142.1_Silent_p.K744K	NM_001252120.1	NP_001239049.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	930					negative regulation of glycogen biosynthetic process (GO:0045719)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of energy homeostasis (GO:2000505)|regulation of glucagon secretion (GO:0070092)|regulation of respiratory gaseous exchange (GO:0043576)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		GGAGGAGGTCTTTCACCAGCC	0.632																																					p.K930K		Atlas-SNP	.											.	PASK	230	.	0			c.A2790G						.						43.0	45.0	44.0					2																	242063478		2203	4300	6503	SO:0001819	synonymous_variant	23178	exon11			GAGGTCTTTCACC	U79240	CCDS2545.1, CCDS58758.1, CCDS58759.1	2q37.3	2008-05-23			ENSG00000115687	ENSG00000115687			17270	protein-coding gene	gene with protein product		607505				11688972, 11459942, 15148392	Standard	NM_001252119		Approved	PASKIN, KIAA0135, STK37	uc010fzl.2	Q96RG2	OTTHUMG00000133392	ENST00000405260.1:c.2790A>G	chr2.hg19:g.242063478T>C		165.0	0.0		110.0	5.0	NM_015148	G5E9F1|Q05BE4|Q68DY3|Q6GSJ5|Q86XH6|Q99763|Q9UFR7	Silent	SNP	ENST00000405260.1	hg19	CCDS2545.1																																																																																			.	.		0.632	PASK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000323753.1	NM_015148	
MTMR14	64419	hgsc.bcm.edu	37	3	9714391	9714391	+	Missense_Mutation	SNP	G	G	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr3:9714391G>T	ENST00000296003.4	+	7	822	c.700G>T	c.(700-702)Gac>Tac	p.D234Y	MTMR14_ENST00000351233.5_Missense_Mutation_p.D234Y|MTMR14_ENST00000353332.5_Missense_Mutation_p.D234Y|MTMR14_ENST00000420925.1_Intron	NM_001077525.2	NP_001070993.1	Q8NCE2	MTMRE_HUMAN	myotubularin related protein 14	234					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	21	Medulloblastoma(99;0.227)					TGAGAAGGTGGACAAAGCCCA	0.512																																					p.D234Y		Atlas-SNP	.											.	MTMR14	43	.	0			c.G700T						.						147.0	146.0	146.0					3																	9714391		2027	4185	6212	SO:0001583	missense	64419	exon7			AAGGTGGACAAAG	BC001674	CCDS43043.1, CCDS43044.1, CCDS43045.1	3p26	2011-06-09	2006-12-18	2006-12-18	ENSG00000163719	ENSG00000163719		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	26190	protein-coding gene	gene with protein product	"""egg-derived tyrosine phosphatase homolog (Drosophila)"""	611089	"""chromosome 3 open reading frame 29"""	C3orf29		15186772	Standard	NM_022485		Approved	FLJ22405, FLJ90311, hJumpy, hEDTP	uc003brz.3	Q8NCE2	OTTHUMG00000155111	ENST00000296003.4:c.700G>T	chr3.hg19:g.9714391G>T	ENSP00000296003:p.Asp234Tyr	148.0	0.0		86.0	4.0	NM_022485	Q0JTH5|Q0JU83|Q6PIZ4|Q6QE21|Q86VK9|Q8IYK1|Q8TCM7|Q9H6C0	Missense_Mutation	SNP	ENST00000296003.4	hg19	CCDS43043.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.880163	0.91740	.	.	ENSG00000163719	ENST00000353332;ENST00000296003;ENST00000351233;ENST00000419048	D;D;D	0.90732	-2.72;-2.72;-2.72	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	D	0.95825	0.8641	M	0.83603	2.65	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	D	0.96030	0.9016	10	0.87932	D	0	-4.406	19.216	0.93778	0.0:0.0:1.0:0.0	.	234;234;234	Q8NCE2-3;Q8NCE2-2;Q8NCE2	.;.;MTMRE_HUMAN	Y	234	ENSP00000323462:D234Y;ENSP00000296003:D234Y;ENSP00000334070:D234Y	ENSP00000296003:D234Y	D	+	1	0	MTMR14	9689391	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.893000	0.92498	2.625000	0.88918	0.655000	0.94253	GAC	.	.		0.512	MTMR14-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338435.1	NM_022485	
BRPF1	7862	hgsc.bcm.edu	37	3	9788027	9788027	+	Missense_Mutation	SNP	G	G	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr3:9788027G>T	ENST00000457855.1	+	12	3361	c.3350G>T	c.(3349-3351)gGg>gTg	p.G1117V	BRPF1_ENST00000433861.2_Missense_Mutation_p.G1022V|BRPF1_ENST00000424362.1_Missense_Mutation_p.G1116V|BRPF1_ENST00000302054.3_Missense_Mutation_p.G1117V|BRPF1_ENST00000383829.2_Missense_Mutation_p.G1123V			P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	1117	PWWP. {ECO:0000255|PROSITE- ProRule:PRU00162}.		G -> E (in dbSNP:rs1042294).		chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					TTCCACCATGGGGTTCCCATC	0.527																																					p.G1123V		Atlas-SNP	.											BRPF1,NS,carcinoma,0,1	BRPF1	104	.	0			c.G3368T						.						97.0	97.0	97.0					3																	9788027		2203	4300	6503	SO:0001583	missense	7862	exon13			ACCATGGGGTTCC	M91585	CCDS2575.1, CCDS33692.1	3p26-p25	2008-07-18			ENSG00000156983	ENSG00000156983			14255	protein-coding gene	gene with protein product	"""peregrin"", ""bromodomain-containing protein, 140kD"""	602410				8946209, 7906940	Standard	NM_001003694		Approved	BR140	uc003bsf.3	P55201	OTTHUMG00000097033	ENST00000457855.1:c.3350G>T	chr3.hg19:g.9788027G>T	ENSP00000410210:p.Gly1117Val	105.0	0.0		68.0	3.0	NM_001003694	B4DEZ6|Q7Z6E0|Q8TCM6|Q9UHI0	Missense_Mutation	SNP	ENST00000457855.1	hg19	CCDS2575.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.544594	0.86022	.	.	ENSG00000156983	ENST00000433861;ENST00000424362;ENST00000383829;ENST00000302054;ENST00000457855	T;T;T;T;T	0.39056	1.1;1.1;1.1;1.1;1.1	6.06	6.06	0.98353	PWWP (3);	0.000000	0.85682	D	0.000000	T	0.70500	0.3231	M	0.82323	2.585	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.97110	0.97;1.0;1.0;1.0	T	0.72043	-0.4409	10	0.72032	D	0.01	.	20.6208	0.99490	0.0:0.0:1.0:0.0	.	1022;1116;1123;1117	P55201-4;P55201-3;P55201-2;P55201	.;.;.;BRPF1_HUMAN	V	1022;1116;1123;1117;1117	ENSP00000402485:G1022V;ENSP00000398863:G1116V;ENSP00000373340:G1123V;ENSP00000306297:G1117V;ENSP00000410210:G1117V	ENSP00000306297:G1117V	G	+	2	0	BRPF1	9763027	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.869000	0.99810	2.882000	0.98803	0.655000	0.94253	GGG	.	.		0.527	BRPF1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338485.1	NM_001003694	
VHL	7428	hgsc.bcm.edu	37	3	10191490	10191490	+	Silent	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr3:10191490A>G	ENST00000256474.2	+	3	1323	c.483A>G	c.(481-483)cgA>cgG	p.R161R	VHL_ENST00000477538.1_3'UTR|VHL_ENST00000345392.2_Silent_p.R120R	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	161	Interaction with Elongin BC complex.		R -> G (in VHLD; type II; dbSNP:rs5030818).|R -> P (in pheochromocytoma and VHLD; type I). {ECO:0000269|PubMed:12000816, ECO:0000269|PubMed:8956040}.|R -> Q (in pheochromocytoma and VHLD; type II). {ECO:0000269|PubMed:12000816, ECO:0000269|PubMed:9829912}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.C162fs*12(2)|p.R161del(1)|p.R161fs*12(1)|p.E160fs*9(1)|p.C162fs*9(1)|p.L158fs*6(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		TGAAAGAGCGATGCCTCCAGG	0.502		1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																												p.R161R		Atlas-SNP	.	yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"""E, M, O"""	VHL,NS,carcinoma,+1,1	VHL	2192	.	7	Deletion - Frameshift(4)|Insertion - Frameshift(2)|Deletion - In frame(1)	kidney(7)	c.A483G						.						94.0	86.0	89.0					3																	10191490		2203	4300	6503	SO:0001819	synonymous_variant	7428	exon3	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	AGAGCGATGCCTC	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"""von Hippel-Lindau syndrome"", ""von Hippel-Lindau tumor suppressor"""			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.483A>G	chr3.hg19:g.10191490A>G		66.0	0.0		40.0	2.0	NM_000551	B2RE45|Q13599|Q6PDA9	Silent	SNP	ENST00000256474.2	hg19	CCDS2597.1																																																																																			.	.		0.502	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551	
FBLN2	2199	hgsc.bcm.edu	37	3	13678012	13678012	+	Silent	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr3:13678012T>C	ENST00000295760.7	+	16	3210	c.3141T>C	c.(3139-3141)ggT>ggC	p.G1047G	FBLN2_ENST00000535798.1_Silent_p.G1073G|FBLN2_ENST00000404922.3_Silent_p.G1094G|FBLN2_ENST00000492059.1_Silent_p.G1094G	NM_001998.2	NP_001989.2	P98095	FBLN2_HUMAN	fibulin 2	1047	EGF-like 10; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			ACATCCAGGGTAGCTTCCGCT	0.612																																					p.G1094G		Atlas-SNP	.											.	FBLN2	137	.	0			c.T3282C						.						59.0	71.0	67.0					3																	13678012		2185	4285	6470	SO:0001819	synonymous_variant	2199	exon17			CCAGGGTAGCTTC	X82494	CCDS46761.1, CCDS46762.1	3p25-p24	2010-06-15			ENSG00000163520	ENSG00000163520		"""Fibulins"""	3601	protein-coding gene	gene with protein product		135821				7806230	Standard	NM_001165035		Approved		uc011ava.2	P98095	OTTHUMG00000155437	ENST00000295760.7:c.3141T>C	chr3.hg19:g.13678012T>C		144.0	0.0		122.0	5.0	NM_001004019	B7Z9C5|Q8IUI0|Q8IUI1	Silent	SNP	ENST00000295760.7	hg19	CCDS46762.1	.	.	.	.	.	.	.	.	.	.	T	8.139	0.784705	0.16189	.	.	ENSG00000163520	ENST00000295761;ENST00000421373	.	.	.	4.91	-5.89	0.02282	.	.	.	.	.	T	0.36580	0.0972	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41288	-0.9517	4	.	.	.	.	2.2564	0.04056	0.099:0.2889:0.2911:0.3211	.	.	.	.	A	66;23	.	.	V	+	2	0	FBLN2	13653013	0.000000	0.05858	0.846000	0.33378	0.731000	0.41821	-1.709000	0.01890	-0.774000	0.04590	-1.145000	0.01858	GTA	.	.		0.612	FBLN2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000340083.3	NM_001004019	
FGD5	152273	hgsc.bcm.edu	37	3	14861366	14861366	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr3:14861366A>G	ENST00000285046.5	+	1	898	c.788A>G	c.(787-789)cAg>cGg	p.Q263R	FGD5_ENST00000543601.1_Missense_Mutation_p.Q22R	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	263	Glu-rich.				actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						GCCGGGGTCCAGGAGGCAGAG	0.617																																					p.Q263R		Atlas-SNP	.											.	FGD5	248	.	0			c.A788G						.						23.0	28.0	26.0					3																	14861366		2097	4222	6319	SO:0001583	missense	152273	exon1			GGGTCCAGGAGGC	AK097276	CCDS46767.1	3p25.1	2013-01-10			ENSG00000154783	ENSG00000154783		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	19117	protein-coding gene	gene with protein product		614788					Standard	NM_152536		Approved	ZFYVE23, FLJ39957, FLJ00274	uc003bzc.3	Q6ZNL6	OTTHUMG00000155556	ENST00000285046.5:c.788A>G	chr3.hg19:g.14861366A>G	ENSP00000285046:p.Gln263Arg	101.0	0.0		90.0	4.0	NM_152536	B3KVQ3|Q6MZY1|Q7Z303|Q8IYP3|Q8N861|Q8N8G4	Missense_Mutation	SNP	ENST00000285046.5	hg19	CCDS46767.1	.	.	.	.	.	.	.	.	.	.	A	15.11	2.737157	0.49045	.	.	ENSG00000154783	ENST00000285046;ENST00000543601	T;T	0.75260	-0.92;-0.81	4.91	2.48	0.30137	.	0.854674	0.10116	N	0.714021	T	0.57110	0.2031	L	0.27053	0.805	0.21020	N	0.99981	B;B	0.30763	0.294;0.294	B;B	0.24974	0.057;0.039	T	0.39522	-0.9610	10	0.20519	T	0.43	-19.0097	7.8196	0.29280	0.7814:0.1446:0.074:0.0	.	22;263	B7ZM68;Q6ZNL6	.;FGD5_HUMAN	R	263;22	ENSP00000285046:Q263R;ENSP00000445949:Q22R	ENSP00000285046:Q263R	Q	+	2	0	FGD5	14836370	0.000000	0.05858	0.986000	0.45419	0.454000	0.32378	-0.186000	0.09670	0.901000	0.36495	0.482000	0.46254	CAG	.	.		0.617	FGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340628.1	NM_152536	
TOP2B	7155	hgsc.bcm.edu	37	3	25671863	25671863	+	Silent	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr3:25671863T>C	ENST00000264331.4	-	12	1502	c.1503A>G	c.(1501-1503)agA>agG	p.R501R	TOP2B_ENST00000435706.2_Silent_p.R496R	NM_001068.2	NP_001059.2	Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	501	Toprim. {ECO:0000255|PROSITE- ProRule:PRU00995}.				ATP catabolic process (GO:0006200)|axonogenesis (GO:0007409)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|forebrain development (GO:0030900)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|neuron migration (GO:0001764)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein kinase C binding (GO:0005080)			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36					Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Etoposide(DB00773)	AAACTCCGTATCTGTCTCGTC	0.428																																					p.R496R		Atlas-SNP	.											.	TOP2B	98	.	0			c.A1488G						.						63.0	60.0	61.0					3																	25671863		1802	3946	5748	SO:0001819	synonymous_variant	7155	exon12			TCCGTATCTGTCT	X68060	CCDS46776.1	3p24.2	2012-08-30	2002-08-29		ENSG00000077097	ENSG00000077097	5.99.1.3		11990	protein-coding gene	gene with protein product		126431	"""topoisomerase (DNA) II beta (180kD)"""			1309226, 1333583	Standard	NM_001068		Approved		uc003cdj.3	Q02880	OTTHUMG00000155596	ENST00000264331.4:c.1503A>G	chr3.hg19:g.25671863T>C		226.0	0.0		121.0	5.0	NM_001068	Q13600|Q9UMG8|Q9UQP8	Silent	SNP	ENST00000264331.4	hg19																																																																																				.	.		0.428	TOP2B-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding			
TRANK1	9881	hgsc.bcm.edu	37	3	36875346	36875346	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr3:36875346A>G	ENST00000429976.2	-	21	5843	c.5596T>C	c.(5596-5598)Ttt>Ctt	p.F1866L	TRANK1_ENST00000428977.2_Missense_Mutation_p.F1316L|TRANK1_ENST00000301807.6_Missense_Mutation_p.F1316L	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1866							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TCCAAGTAAAACTGACTGGCA	0.423																																					p.F1866L		Atlas-SNP	.											.	TRANK1	398	.	0			c.T5596C						.						85.0	82.0	83.0					3																	36875346		1876	4098	5974	SO:0001583	missense	9881	exon21			AGTAAAACTGACT	AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29011	protein-coding gene	gene with protein product	"""lupus brain antigen 1"", ""KIAA0342"""					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.5596T>C	chr3.hg19:g.36875346A>G	ENSP00000416168:p.Phe1866Leu	189.0	0.0		110.0	5.0	NM_014831	Q8N8K0	Missense_Mutation	SNP	ENST00000429976.2	hg19	CCDS46789.2	.	.	.	.	.	.	.	.	.	.	A	7.916	0.737610	0.15574	.	.	ENSG00000168016	ENST00000428977;ENST00000429976;ENST00000301807	T;T;T	0.28454	1.61;2.02;1.61	5.27	4.12	0.48240	.	0.221002	0.31797	N	0.007044	T	0.12689	0.0308	N	0.08118	0	0.32702	N	0.512762	B	0.06786	0.001	B	0.01281	0.0	T	0.25641	-1.0126	10	0.02654	T	1	.	9.7673	0.40567	0.8559:0.0:0.1441:0.0	.	1866	O15050	TRNK1_HUMAN	L	1316;1866;1316	ENSP00000416826:F1316L;ENSP00000416168:F1866L;ENSP00000301807:F1316L	ENSP00000301807:F1316L	F	-	1	0	TRANK1	36850350	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.479000	0.35453	0.966000	0.38159	0.448000	0.29417	TTT	.	.		0.423	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014831	
CTDSPL	10217	hgsc.bcm.edu	37	3	38022326	38022326	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr3:38022326T>C	ENST00000273179.5	+	8	825	c.799T>C	c.(799-801)Tac>Cac	p.Y267H	CTDSPL_ENST00000310189.3_3'UTR|CTDSPL_ENST00000443503.2_Missense_Mutation_p.Y256H	NM_001008392.1	NP_001008393.1	O15194	CTDSL_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase-like	267						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			breast(1)|endometrium(2)|large_intestine(4)|skin(1)	8		Melanoma(1037;0.0122)		KIRC - Kidney renal clear cell carcinoma(284;0.0729)|Kidney(284;0.0902)		GGACGACGTGTACAGCATGCT	0.622																																					p.Y267H		Atlas-SNP	.											.	CTDSPL	17	.	0			c.T799C						.						150.0	99.0	116.0					3																	38022326		2203	4300	6503	SO:0001583	missense	10217	exon8			GACGTGTACAGCA	D88153	CCDS33734.1, CCDS33735.1	3p21.3	2010-06-21	2003-10-27	2003-10-29	ENSG00000144677	ENSG00000144677	3.1.3.16	"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	16890	protein-coding gene	gene with protein product	"""small CTD phosphatase 3"", ""HYA22 protein"", ""RB protein serine phosphatase from chromosome 3"""	608592	"""chromosome 3 open reading frame 8"""	C3orf8		9179494, 12543795	Standard	NM_005808		Approved	HYA22, SCP3, PSR1, RBSP3	uc003chg.3	O15194	OTTHUMG00000155942	ENST00000273179.5:c.799T>C	chr3.hg19:g.38022326T>C	ENSP00000273179:p.Tyr267His	123.0	0.0		71.0	4.0	NM_001008392	Q3ZTU0|Q70KI4|Q7Z5Q2	Missense_Mutation	SNP	ENST00000273179.5	hg19	CCDS33734.1	.	.	.	.	.	.	.	.	.	.	T	17.53	3.413359	0.62511	.	.	ENSG00000144677	ENST00000443503;ENST00000273179;ENST00000447745	T;T;T	0.17213	2.29;2.29;2.29	5.33	5.33	0.75918	Dullard phosphatase domain, eukaryotic (1);HAD-like domain (2);	0.000000	0.85682	D	0.000000	T	0.45558	0.1348	M	0.87682	2.9	0.80722	D	1	P;P	0.50066	0.716;0.931	P;P	0.62184	0.837;0.899	T	0.49011	-0.8983	10	0.46703	T	0.11	-11.319	15.6002	0.76620	0.0:0.0:0.0:1.0	.	256;267	O15194-2;O15194	.;CTDSL_HUMAN	H	256;267;156	ENSP00000398288:Y256H;ENSP00000273179:Y267H;ENSP00000407443:Y156H	ENSP00000273179:Y267H	Y	+	1	0	CTDSPL	37997330	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.994000	0.88315	2.151000	0.67156	0.533000	0.62120	TAC	.	.		0.622	CTDSPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342392.1	NM_005808	
VILL	50853	hgsc.bcm.edu	37	3	38038608	38038608	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr3:38038608T>C	ENST00000283713.6	+	6	757	c.491T>C	c.(490-492)tTc>tCc	p.F164S	VILL_ENST00000465644.1_Intron|VILL_ENST00000383759.2_Missense_Mutation_p.F164S			O15195	VILL_HUMAN	villin-like	164					actin filament capping (GO:0051693)|cytoskeleton organization (GO:0007010)	actin cytoskeleton (GO:0015629)	structural constituent of cytoskeleton (GO:0005200)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		GGTGACATCTTCCTGCTGGAC	0.547											OREG0015474	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.F164S		Atlas-SNP	.											.	VILL	61	.	0			c.T491C						.						133.0	126.0	128.0					3																	38038608		2203	4300	6503	SO:0001583	missense	50853	exon5			ACATCTTCCTGCT		CCDS2670.2	3p21	2004-07-28			ENSG00000136059	ENSG00000136059			30906	protein-coding gene	gene with protein product						9179494	Standard	XM_005265191		Approved		uc003chl.3	O15195	OTTHUMG00000130814	ENST00000283713.6:c.491T>C	chr3.hg19:g.38038608T>C	ENSP00000283713:p.Phe164Ser	148.0	0.0	875	94.0	4.0	NM_015873	A8MZP1|Q9BT80|Q9BWH7	Missense_Mutation	SNP	ENST00000283713.6	hg19	CCDS2670.2	.	.	.	.	.	.	.	.	.	.	T	23.9	4.466140	0.84425	.	.	ENSG00000136059	ENST00000283713;ENST00000492491;ENST00000383759;ENST00000356246	T;T;T	0.61627	0.91;0.09;0.91	4.69	4.69	0.59074	Gelsolin domain (1);	0.000000	0.85682	D	0.000000	D	0.82848	0.5126	H	0.96015	3.755	0.51012	D	0.999905	D	0.89917	1.0	D	0.83275	0.996	D	0.88456	0.3052	10	0.87932	D	0	-25.7268	14.1256	0.65217	0.0:0.0:0.0:1.0	.	164	O15195	VILL_HUMAN	S	164	ENSP00000283713:F164S;ENSP00000427355:F164S;ENSP00000373266:F164S	ENSP00000283713:F164S	F	+	2	0	VILL	38013612	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.218000	0.72224	1.903000	0.55091	0.482000	0.46254	TTC	.	.		0.547	VILL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253360.3	NM_015873	
CSRNP1	64651	hgsc.bcm.edu	37	3	39184689	39184689	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr3:39184689A>G	ENST00000273153.5	-	5	1804	c.1627T>C	c.(1627-1629)Tct>Cct	p.S543P	CSRNP1_ENST00000514182.1_Missense_Mutation_p.S543P	NM_033027.3	NP_149016.2	Q96S65	CSRN1_HUMAN	cysteine-serine-rich nuclear protein 1	543					apoptotic process (GO:0006915)|face morphogenesis (GO:0060325)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|skeletal system morphogenesis (GO:0048705)	nucleus (GO:0005634)	RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|skin(3)	24						CCAGGTGGAGACAGGCCAGGC	0.582																																					p.S543P		Atlas-SNP	.											.	CSRNP1	59	.	0			c.T1627C						.						54.0	62.0	59.0					3																	39184689		2203	4300	6503	SO:0001583	missense	64651	exon5			GTGGAGACAGGCC	AB053121	CCDS2682.1	3p22	2009-04-17	2009-04-17	2009-04-17	ENSG00000144655	ENSG00000144655			14300	protein-coding gene	gene with protein product		606458	"""AXIN1 up-regulated 1"""	AXUD1		11526492, 17726538	Standard	NM_033027		Approved	URAX1, DKFZp566F164, FAM130B, TAIP-3	uc003cjg.3	Q96S65	OTTHUMG00000131293	ENST00000273153.5:c.1627T>C	chr3.hg19:g.39184689A>G	ENSP00000273153:p.Ser543Pro	130.0	0.0		77.0	4.0	NM_033027	Q69YY5	Missense_Mutation	SNP	ENST00000273153.5	hg19	CCDS2682.1	.	.	.	.	.	.	.	.	.	.	A	8.905	0.957241	0.18507	.	.	ENSG00000144655	ENST00000273153;ENST00000514182;ENST00000318290	T;T	0.41758	0.99;0.99	4.65	3.49	0.39957	.	0.237331	0.34986	N	0.003524	T	0.25158	0.0611	L	0.31207	0.915	0.25613	N	0.986484	B	0.06786	0.001	B	0.08055	0.003	T	0.11470	-1.0586	10	0.29301	T	0.29	-13.9666	3.821	0.08836	0.5753:0.1889:0.2358:0.0	.	543	Q96S65	CSRN1_HUMAN	P	543;543;201	ENSP00000273153:S543P;ENSP00000422532:S543P	ENSP00000273153:S543P	S	-	1	0	CSRNP1	39159693	1.000000	0.71417	0.434000	0.26772	0.291000	0.27294	5.797000	0.69087	0.882000	0.36016	0.533000	0.62120	TCT	.	.		0.582	CSRNP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254061.1	NM_033027	
MOBP	4336	hgsc.bcm.edu	37	3	39554906	39554906	+	3'UTR	SNP	A	A	G	rs369235076		TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr3:39554906A>G	ENST00000420739.1	+	0	843				MOBP_ENST00000447324.1_Missense_Mutation_p.K80R|MOBP_ENST00000428261.1_Missense_Mutation_p.K80R|MOBP_ENST00000415443.1_Missense_Mutation_p.K80R|MOBP_ENST00000383754.3_Missense_Mutation_p.K80R|MOBP_ENST00000311042.6_3'UTR|MOBP_ENST00000396228.1_Missense_Mutation_p.K80R|MOBP_ENST00000479860.1_3'UTR			Q13875	MOBP_HUMAN	myelin-associated oligodendrocyte basic protein						intracellular protein transport (GO:0006886)|nervous system development (GO:0007399)	cytoplasm (GO:0005737)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	6				KIRC - Kidney renal clear cell carcinoma(284;0.082)|Kidney(284;0.0998)		ACCCCAAAGAAGAAGTGACCA	0.423																																					p.K80R		Atlas-SNP	.											.	MOBP	10	.	0			c.A239G						.	A	ARG/LYS	0,4406		0,0,2203	122.0	111.0	115.0		239	3.9	1.0	3		115	1,8599	1.2+/-3.3	0,1,4299	no	missense	MOBP	NM_182935.2	26	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	benign	80/82	39554906	1,13005	2203	4300	6503	SO:0001624	3_prime_UTR_variant	4336	exon4			CAAAGAAGAAGTG	D28113	CCDS2687.1, CCDS63598.1, CCDS2688.1	3p21.33	2004-03-02			ENSG00000168314	ENSG00000168314			7189	protein-coding gene	gene with protein product		600948				7989345	Standard	NM_001278322		Approved		uc031ryw.1	Q13875	OTTHUMG00000131347	ENST00000420739.1:c.*67A>G	chr3.hg19:g.39554906A>G		134.0	0.0		69.0	4.0	NM_182935	A8K2C2|G5E945|Q13874|Q6DHZ6|Q8TBJ1	Missense_Mutation	SNP	ENST00000420739.1	hg19		.	.	.	.	.	.	.	.	.	.	A	7.322	0.617223	0.14129	0.0	1.16E-4	ENSG00000168314	ENST00000428261;ENST00000415443;ENST00000447324;ENST00000383754;ENST00000396228	.	.	.	5.05	3.92	0.45320	.	.	.	.	.	T	0.61590	0.2359	.	.	.	0.80722	D	1	D	0.67145	0.996	D	0.76071	0.987	T	0.57306	-0.7834	7	0.12430	T	0.62	.	6.9665	0.24625	0.9013:0.0:0.0987:0.0	.	80	Q13875-3	.	R	80	.	ENSP00000373261:K80R	K	+	2	0	MOBP	39529910	0.999000	0.42202	0.989000	0.46669	0.044000	0.14063	2.222000	0.42926	2.254000	0.74563	0.533000	0.62120	AAG	.	.		0.423	MOBP-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000343711.1	NM_006501, NM_182934, NM_182935	
MYRIP	25924	hgsc.bcm.edu	37	3	40231439	40231439	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr3:40231439T>C	ENST00000302541.6	+	10	1492	c.1150T>C	c.(1150-1152)Tcc>Ccc	p.S384P	MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000539167.1_Missense_Mutation_p.S197P|MYRIP_ENST00000396217.3_Missense_Mutation_p.S295P|MYRIP_ENST00000444716.1_Missense_Mutation_p.S384P|MYRIP_ENST00000425621.1_Missense_Mutation_p.S384P	NM_001284423.1|NM_001284426.1|NM_015460.2	NP_001271352.1|NP_001271355.1|NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	384	Myosin-binding.				intracellular protein transport (GO:0006886)|positive regulation of insulin secretion (GO:0032024)	actin cytoskeleton (GO:0015629)|dense core granule (GO:0031045)|exocyst (GO:0000145)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)|photoreceptor outer segment (GO:0001750)|synapse (GO:0045202)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		GGAGGTGGCCTCCAGTGTGGC	0.637																																					p.S384P		Atlas-SNP	.											.	MYRIP	98	.	0			c.T1150C						.						81.0	73.0	76.0					3																	40231439		2203	4300	6503	SO:0001583	missense	25924	exon10			GTGGCCTCCAGTG	AF396687	CCDS2689.1, CCDS68390.1, CCDS68391.1, CCDS68392.1	3p21.33	2010-08-20			ENSG00000170011	ENSG00000170011		"""A-kinase anchor proteins"""	19156	protein-coding gene	gene with protein product	"""synaptotagmin-like protein homologue lacking C2 domains-c"", ""rab effector MYRIP"", ""Slp homologue lacking C2 domains"""	611790				11964381, 12221080	Standard	NM_001284425		Approved	DKFZp586F1018, exophilin-8, MyRIP, SLAC2-C, SLAC2C	uc003cka.3	Q8NFW9	OTTHUMG00000131392	ENST00000302541.6:c.1150T>C	chr3.hg19:g.40231439T>C	ENSP00000301972:p.Ser384Pro	228.0	0.0		140.0	6.0	NM_015460	B3KWM3|B3KWW4|B7Z2H1|B7Z9V3|G3XAI8|Q32M41|Q32M42|Q569F7|Q8IUF5|Q9Y3V4	Missense_Mutation	SNP	ENST00000302541.6	hg19	CCDS2689.1	.	.	.	.	.	.	.	.	.	.	T	18.21	3.573931	0.65765	.	.	ENSG00000170011	ENST00000444716;ENST00000302541;ENST00000425621;ENST00000396217;ENST00000539167	T;T;T;T;T	0.28255	1.62;1.62;1.62;1.62;1.62	5.94	5.94	0.96194	Myelin-associated oligodendrocytic basic protein (MOBP) (1);	0.000000	0.85682	D	0.000000	T	0.51160	0.1658	L	0.58810	1.83	0.48762	D	0.999702	P;D;D	0.89917	0.494;1.0;1.0	P;D;D	0.77557	0.498;0.984;0.99	T	0.46317	-0.9200	9	.	.	.	.	14.3391	0.66614	0.0:0.0:0.0:1.0	.	295;384;384	Q32M42;G3XAI8;Q8NFW9	.;.;MYRIP_HUMAN	P	384;384;384;295;197	ENSP00000398665:S384P;ENSP00000301972:S384P;ENSP00000389323:S384P;ENSP00000379519:S295P;ENSP00000438297:S197P	.	S	+	1	0	MYRIP	40206443	1.000000	0.71417	0.508000	0.27688	0.990000	0.78478	5.555000	0.67301	2.276000	0.75962	0.533000	0.62120	TCC	.	.		0.637	MYRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254181.2	NM_015460	
ENTPD3	956	hgsc.bcm.edu	37	3	40433587	40433587	+	Silent	SNP	G	G	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr3:40433587G>A	ENST00000301825.3	+	3	232	c.114G>A	c.(112-114)gtG>gtA	p.V38V	ENTPD3_ENST00000456402.1_Silent_p.V38V|ENTPD3_ENST00000445129.1_Silent_p.V38V|ENTPD3-AS1_ENST00000452768.1_RNA|ENTPD3-AS1_ENST00000439293.1_RNA|ENTPD3-AS1_ENST00000425156.1_RNA	NM_001248.2	NP_001239.2	O75355	ENTP3_HUMAN	ectonucleoside triphosphate diphosphohydrolase 3	38					nucleoside diphosphate catabolic process (GO:0009134)|nucleoside triphosphate catabolic process (GO:0009143)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)			endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758)		TGGTACTTGTGAGTATCACTG	0.483																																					p.V38V		Atlas-SNP	.											.	ENTPD3	48	.	0			c.G114A						.						175.0	160.0	165.0					3																	40433587		2203	4300	6503	SO:0001819	synonymous_variant	956	exon3			ACTTGTGAGTATC	AF039917	CCDS2691.1, CCDS74919.1	3p21.3	2004-02-26			ENSG00000168032	ENSG00000168032			3365	protein-coding gene	gene with protein product		603161		CD39L3		9676430	Standard	XM_005265605		Approved	NTPDase-3, HB6	uc003ckd.4	O75355	OTTHUMG00000131390	ENST00000301825.3:c.114G>A	chr3.hg19:g.40433587G>A		158.0	0.0		101.0	5.0	NM_001248	B2R8D0|G5E9N0|O60495|Q8N6K2	Silent	SNP	ENST00000301825.3	hg19	CCDS2691.1																																																																																			.	.		0.483	ENTPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254179.2	NM_001248	
ZDHHC3	51304	hgsc.bcm.edu	37	3	44975411	44975411	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr3:44975411T>C	ENST00000424952.2	-	4	765	c.497A>G	c.(496-498)gAg>gGg	p.E166G	ZDHHC3_ENST00000296127.3_Missense_Mutation_p.E166G|ZDHHC3_ENST00000342790.4_Missense_Mutation_p.E200G	NM_001135179.1	NP_001128651.1	Q9NYG2	ZDHC3_HUMAN	zinc finger, DHHC-type containing 3	166					protein palmitoylation (GO:0018345)|protein targeting (GO:0006605)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(193;0.00943)|KIRC - Kidney renal clear cell carcinoma(197;0.053)|Kidney(197;0.0665)		CTGGTTGTTCTCGCCTACACA	0.493																																					p.E166G		Atlas-SNP	.											.	ZDHHC3	25	.	0			c.A497G						.						320.0	279.0	293.0					3																	44975411		2203	4300	6503	SO:0001583	missense	51304	exon4			TTGTTCTCGCCTA	AF247703	CCDS2724.1, CCDS46811.1	3p21.31	2010-02-09			ENSG00000163812	ENSG00000163812		"""Zinc fingers, DHHC-type"""	18470	protein-coding gene	gene with protein product	"""golgi-specific DHHC Zinc Finger Protein"""					19955568	Standard	NM_016598		Approved	ZNF373, GODZ	uc003cod.3	Q9NYG2	OTTHUMG00000133093	ENST00000424952.2:c.497A>G	chr3.hg19:g.44975411T>C	ENSP00000395502:p.Glu166Gly	147.0	0.0		99.0	4.0	NM_016598	Q53A17|Q96BL0	Missense_Mutation	SNP	ENST00000424952.2	hg19	CCDS46811.1	.	.	.	.	.	.	.	.	.	.	T	31	5.075121	0.94000	.	.	ENSG00000163812	ENST00000339420;ENST00000296127;ENST00000424952;ENST00000342790;ENST00000433512;ENST00000455235	T;T;T;T;T;T	0.25912	1.77;1.86;1.86;1.86;1.77;1.77	5.27	5.27	0.74061	Zinc finger, DHHC-type, palmitoyltransferase (2);	0.000000	0.85682	D	0.000000	T	0.57154	0.2034	M	0.90019	3.08	0.80722	D	1	D;D;D	0.89917	1.0;0.995;1.0	D;D;D	0.85130	0.997;0.965;0.995	T	0.62105	-0.6924	10	0.27785	T	0.31	.	15.1872	0.73012	0.0:0.0:0.0:1.0	.	166;166;166	E9PGS3;Q9NYG2-2;Q9NYG2	.;.;ZDHC3_HUMAN	G	32;166;166;200;14;14	ENSP00000404108:E32G;ENSP00000296127:E166G;ENSP00000395502:E166G;ENSP00000345268:E200G;ENSP00000416132:E14G;ENSP00000408294:E14G	ENSP00000296127:E166G	E	-	2	0	ZDHHC3	44950415	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.928000	0.87587	1.996000	0.58369	0.533000	0.62120	GAG	.	.		0.493	ZDHHC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347004.1	NM_016598	
ALS2CL	259173	hgsc.bcm.edu	37	3	46713386	46713386	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr3:46713386A>G	ENST00000318962.4	-	24	2755	c.2672T>C	c.(2671-2673)gTg>gCg	p.V891A	ALS2CL_ENST00000415953.1_Missense_Mutation_p.V891A|ALS2CL_ENST00000383742.3_Missense_Mutation_p.V238A	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like	891	VPS9. {ECO:0000255|PROSITE- ProRule:PRU00550}.				endosome organization (GO:0007032)|protein localization (GO:0008104)	cytoplasmic membrane-bounded vesicle (GO:0016023)	GTPase activator activity (GO:0005096)|identical protein binding (GO:0042802)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		GGCGCGCGACACCACGTAGAT	0.627																																					p.V891A		Atlas-SNP	.											ALS2CL,NS,adenocarcinoma,0,1	ALS2CL	78	.	0			c.T2672C						.						71.0	56.0	61.0					3																	46713386		2203	4300	6503	SO:0001583	missense	259173	exon24			CGCGACACCACGT	AK074118	CCDS2743.1, CCDS43080.1	3p21.31	2008-01-30			ENSG00000178038	ENSG00000178038			20605	protein-coding gene	gene with protein product		612402				15388334, 8889548, 17239822	Standard	NM_147129		Approved	FLJ36525, RN49018, DKFZp686I0110	uc003cqb.2	Q60I27	OTTHUMG00000128673	ENST00000318962.4:c.2672T>C	chr3.hg19:g.46713386A>G	ENSP00000313670:p.Val891Ala	104.0	1.0		65.0	4.0	NM_001190707	Q32MA1|Q6AI56|Q6ZNC5|Q6ZNC7|Q6ZTL4|Q86YD2|Q8N9U1|Q8NAL7	Missense_Mutation	SNP	ENST00000318962.4	hg19	CCDS2743.1	.	.	.	.	.	.	.	.	.	.	A	19.87	3.907681	0.72868	.	.	ENSG00000178038	ENST00000318962;ENST00000415953;ENST00000383742	T;T;T	0.38887	1.11;1.11;1.11	4.76	4.76	0.60689	Vacuolar sorting protein 9 (2);	0.000000	0.53938	D	0.000053	T	0.61148	0.2324	M	0.68317	2.08	0.46279	D	0.998961	D	0.89917	1.0	D	0.87578	0.998	T	0.65080	-0.6255	10	0.87932	D	0	.	12.2663	0.54681	1.0:0.0:0.0:0.0	.	891	Q60I27	AL2CL_HUMAN	A	891;891;238	ENSP00000313670:V891A;ENSP00000413223:V891A;ENSP00000373248:V238A	ENSP00000313670:V891A	V	-	2	0	ALS2CL	46688390	1.000000	0.71417	0.996000	0.52242	0.514000	0.34195	7.387000	0.79785	1.995000	0.58328	0.528000	0.53228	GTG	.	.		0.627	ALS2CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250567.3	NM_147129	
NBEAL2	23218	hgsc.bcm.edu	37	3	47040568	47040568	+	Silent	SNP	G	G	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr3:47040568G>T	ENST00000450053.3	+	24	3683	c.3504G>T	c.(3502-3504)cgG>cgT	p.R1168R	NBEAL2_ENST00000292309.5_Intron|NBEAL2_ENST00000383740.2_5'UTR	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1168	Leu-rich.				blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		TGCTAGTGCGGCCAGGGTCAC	0.652											OREG0015546	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R1168R		Atlas-SNP	.											.	NBEAL2	267	.	0			c.G3504T						.						27.0	31.0	30.0					3																	47040568		2102	4206	6308	SO:0001819	synonymous_variant	23218	exon24			AGTGCGGCCAGGG	AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"""WD repeat domain containing"""	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.3504G>T	chr3.hg19:g.47040568G>T		116.0	0.0	943	69.0	4.0	NM_015175	O60288|Q6P994|Q6UX91|Q8NAC9	Silent	SNP	ENST00000450053.3	hg19	CCDS46817.1																																																																																			.	.		0.652	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344363.3	XM_291064	
QRICH1	54870	hgsc.bcm.edu	37	3	49094779	49094779	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr3:49094779T>C	ENST00000395443.2	-	3	1326	c.854A>G	c.(853-855)gAc>gGc	p.D285G	QRICH1_ENST00000424300.1_Missense_Mutation_p.D285G|QRICH1_ENST00000479449.1_Intron|QRICH1_ENST00000357496.2_Missense_Mutation_p.D285G	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1	285	Gln-rich.					nucleus (GO:0005634)				breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		TGTCAGTAAGTCTGGCCTCAA	0.572																																					p.D285G		Atlas-SNP	.											.	QRICH1	48	.	0			c.A854G						.						66.0	63.0	64.0					3																	49094779		2203	4300	6503	SO:0001583	missense	54870	exon3			AGTAAGTCTGGCC		CCDS2787.1	3p21.31	2011-06-03			ENSG00000198218	ENSG00000198218			24713	protein-coding gene	gene with protein product						12477932	Standard	NM_017730		Approved	FLJ20259	uc003cvv.3	Q2TAL8	OTTHUMG00000156772	ENST00000395443.2:c.854A>G	chr3.hg19:g.49094779T>C	ENSP00000378830:p.Asp285Gly	193.0	0.0		174.0	7.0	NM_198880	Q4G0F7|Q7L621|Q8TEA5	Missense_Mutation	SNP	ENST00000395443.2	hg19	CCDS2787.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.227966	0.79576	.	.	ENSG00000198218	ENST00000395443;ENST00000357496;ENST00000424300	T;T;T	0.24908	1.83;1.83;1.83	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.32164	0.0820	N	0.24115	0.695	0.80722	D	1	D	0.61697	0.99	P	0.54759	0.76	T	0.07309	-1.0779	10	0.87932	D	0	-4.752	16.6277	0.84984	0.0:0.0:0.0:1.0	.	285	Q2TAL8	QRIC1_HUMAN	G	285	ENSP00000378830:D285G;ENSP00000350094:D285G;ENSP00000412890:D285G	ENSP00000350094:D285G	D	-	2	0	QRICH1	49069783	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.698000	0.84413	2.330000	0.79161	0.528000	0.53228	GAC	.	.		0.572	QRICH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345669.1	NM_017730	
LAMB2	3913	hgsc.bcm.edu	37	3	49162736	49162736	+	Silent	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr3:49162736T>C	ENST00000418109.1	-	20	2834	c.2670A>G	c.(2668-2670)acA>acG	p.T890T	LAMB2_ENST00000305544.4_Silent_p.T890T|LAMB2_ENST00000464891.1_5'UTR	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	890	Laminin EGF-like 8. {ECO:0000255|PROSITE- ProRule:PRU00460}.				astrocyte development (GO:0014002)|axon extension involved in regeneration (GO:0048677)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|metanephric glomerular basement membrane development (GO:0072274)|metanephric glomerular visceral epithelial cell development (GO:0072249)|neuromuscular junction development (GO:0007528)|retina development in camera-type eye (GO:0060041)|Schwann cell development (GO:0014044)|visual perception (GO:0007601)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-11 complex (GO:0043260)|laminin-3 complex (GO:0005608)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GGCAAGCGCCTGTGTGGGTGT	0.617																																					p.T890T		Atlas-SNP	.											.	LAMB2	156	.	0			c.A2670G						.						126.0	123.0	124.0					3																	49162736		2203	4300	6503	SO:0001819	synonymous_variant	3913	exon19			AGCGCCTGTGTGG		CCDS2789.1	3p21.3-p21.2	2013-03-01			ENSG00000172037	ENSG00000172037		"""Laminins"""	6487	protein-coding gene	gene with protein product	"""laminin S"""	150325		LAMS		2922051, 10393422	Standard	NM_002292		Approved		uc003cwe.3	P55268	OTTHUMG00000156807	ENST00000418109.1:c.2670A>G	chr3.hg19:g.49162736T>C		119.0	0.0		72.0	4.0	NM_002292	Q16321	Silent	SNP	ENST00000418109.1	hg19	CCDS2789.1																																																																																			.	.		0.617	LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345939.1	NM_002292	
VPRBP	9730	hgsc.bcm.edu	37	3	51456190	51456190	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr3:51456190T>C	ENST00000335891.5	-	8	2039	c.2030A>G	c.(2029-2031)cAg>cGg	p.Q677R				Q9Y4B6	VPRBP_HUMAN	Vpr (HIV-1) binding protein	1126					B cell differentiation (GO:0030183)|cell competition in a multicellular organism (GO:0035212)|histone H2A-T120 phosphorylation (GO:1990245)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|transcription, DNA-templated (GO:0006351)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone kinase activity (H2A-T120 specific) (GO:1990244)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		GGCCTCCTCCTGTCCACTAAA	0.522																																					p.Q1073R		Atlas-SNP	.											.	VPRBP	107	.	0			c.A3218G						.						121.0	123.0	122.0					3																	51456190		2025	4200	6225	SO:0001583	missense	9730	exon15			TCCTCCTGTCCAC	AB018343	CCDS74943.1, CCDS74944.1	3p21.2	2011-06-17			ENSG00000145041	ENSG00000145041		"""DDB1 and CUL4 associated factors"""	30911	protein-coding gene	gene with protein product	"""DDB1 and CUL4 associated factor 1"""					8195203, 11223251	Standard	NM_014703		Approved	KIAA0800, MGC102804, DCAF1	uc003dbe.2	Q9Y4B6	OTTHUMG00000156895	ENST00000335891.5:c.2030A>G	chr3.hg19:g.51456190T>C	ENSP00000338857:p.Gln677Arg	125.0	0.0		74.0	4.0	NM_014703	Q2YD74|Q8TBD9|Q9HCA1|Q9UG37	Missense_Mutation	SNP	ENST00000335891.5	hg19		.	.	.	.	.	.	.	.	.	.	T	17.75	3.465637	0.63513	.	.	ENSG00000145041	ENST00000423656;ENST00000335891	T;T	0.01313	5.02;5.02	5.99	5.99	0.97316	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.01940	0.0061	L	0.31926	0.97	0.58432	D	0.999999	P	0.46512	0.879	B	0.42827	0.399	T	0.74297	-0.3711	10	0.16420	T	0.52	-14.9248	16.4943	0.84223	0.0:0.0:0.0:1.0	.	1126	Q9Y4B6	VPRBP_HUMAN	R	697;677	ENSP00000393183:Q697R;ENSP00000338857:Q677R	ENSP00000338857:Q677R	Q	-	2	0	VPRBP	51431230	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.474000	0.81024	2.291000	0.77112	0.533000	0.62120	CAG	.	.		0.522	VPRBP-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_014703	
WDR82	80335	hgsc.bcm.edu	37	3	52293863	52293863	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr3:52293863T>C	ENST00000296490.3	-	6	850	c.569A>G	c.(568-570)cAg>cGg	p.Q190R		NM_025222.3	NP_079498.2	Q6UXN9	WDR82_HUMAN	WD repeat domain 82	190					histone H3-K4 methylation (GO:0051568)	chromatin (GO:0000785)|histone methyltransferase complex (GO:0035097)|PTW/PP1 phosphatase complex (GO:0072357)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)								BRCA - Breast invasive adenocarcinoma(193;2.67e-05)|Kidney(197;0.00198)|KIRC - Kidney renal clear cell carcinoma(197;0.00223)|OV - Ovarian serous cystadenocarcinoma(275;0.246)		TCGATCATACTGCATCTTAAA	0.428																																					p.Q190R		Atlas-SNP	.											.	WDR82	19	.	0			c.A569G						.						145.0	134.0	137.0					3																	52293863		1900	4122	6022	SO:0001583	missense	80335	exon6			TCATACTGCATCT	AF132207	CCDS2851.2	3p21.2	2013-01-10	2007-07-04	2007-07-04	ENSG00000164091	ENSG00000164091		"""WD repeat domain containing"""	28826	protein-coding gene	gene with protein product		611059	"""transmembrane protein 113"""	TMEM113		17355966	Standard	NM_025222		Approved	PRO2730, MST107, MSTP107, PRO34047, WDR82A, SWD2	uc003ddl.2	Q6UXN9	OTTHUMG00000150391	ENST00000296490.3:c.569A>G	chr3.hg19:g.52293863T>C	ENSP00000296490:p.Gln190Arg	47.0	0.0		35.0	5.0	NM_025222	A8K5R5|Q8TEB2	Missense_Mutation	SNP	ENST00000296490.3	hg19	CCDS2851.2	.	.	.	.	.	.	.	.	.	.	T	17.40	3.380587	0.61845	.	.	ENSG00000164091	ENST00000296490	T	0.17854	2.25	5.88	5.88	0.94601	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.18800	0.0451	L	0.55103	1.725	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.06058	-1.0848	10	0.15952	T	0.53	-26.197	16.259	0.82532	0.0:0.0:0.0:1.0	.	190	Q6UXN9	WDR82_HUMAN	R	190	ENSP00000296490:Q190R	ENSP00000296490:Q190R	Q	-	2	0	WDR82	52268903	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.831000	0.86748	2.245000	0.73994	0.482000	0.46254	CAG	.	.		0.428	WDR82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317919.1	NM_025222	
NEK4	6787	hgsc.bcm.edu	37	3	52800369	52800369	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr3:52800369A>G	ENST00000233027.5	-	3	585	c.383T>C	c.(382-384)cTt>cCt	p.L128P	NEK4_ENST00000383721.4_Missense_Mutation_p.L128P|NEK4_ENST00000535191.1_Missense_Mutation_p.L39P	NM_001193533.1|NM_003157.4	NP_001180462.1|NP_003148.2	P51957	NEK4_HUMAN	NIMA-related kinase 4	128	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(10)	26				BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513)		ATCTCGATGAAGGATGTGTTT	0.333																																					p.L128P		Atlas-SNP	.											.	NEK4	51	.	0			c.T383C						.						168.0	149.0	155.0					3																	52800369		2203	4300	6503	SO:0001583	missense	6787	exon3			CGATGAAGGATGT	L20321	CCDS2863.1, CCDS54593.1	3p21.1	2012-11-15	2012-11-15	2002-05-10	ENSG00000114904	ENSG00000114904	2.7.11.1		11399	protein-coding gene	gene with protein product	"""serine/threonine protein kinase-2"""	601959	"""serine/threonine kinase 2"", ""NIMA (never in mitosis gene a)-related kinase 4"""	STK2		8208544	Standard	NM_001193533		Approved	NRK2, pp12301	uc003dfq.4	P51957	OTTHUMG00000158836	ENST00000233027.5:c.383T>C	chr3.hg19:g.52800369A>G	ENSP00000233027:p.Leu128Pro	117.0	0.0		97.0	4.0	NM_003157	A5YM70|B2R633|B7Z200|Q6P576	Missense_Mutation	SNP	ENST00000233027.5	hg19	CCDS2863.1	.	.	.	.	.	.	.	.	.	.	A	24.9	4.582649	0.86748	.	.	ENSG00000114904	ENST00000233027;ENST00000535191;ENST00000383721;ENST00000461689	T;T;T;T	0.27256	1.68;1.68;1.68;1.68	5.95	5.95	0.96441	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000001	T	0.63977	0.2557	H	0.94462	3.54	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.997;0.998	T	0.75161	-0.3415	10	0.87932	D	0	.	16.4025	0.83647	1.0:0.0:0.0:0.0	.	39;128;128	B7Z200;P51957-2;P51957	.;.;NEK4_HUMAN	P	128;39;128;39	ENSP00000233027:L128P;ENSP00000437703:L39P;ENSP00000373227:L128P;ENSP00000419666:L39P	ENSP00000233027:L128P	L	-	2	0	NEK4	52775409	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.957000	0.93082	2.268000	0.75426	0.533000	0.62120	CTT	.	.		0.333	NEK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352386.2	NM_003157	
ITIH3	3699	hgsc.bcm.edu	37	3	52831920	52831920	+	Missense_Mutation	SNP	C	C	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr3:52831920C>A	ENST00000449956.2	+	6	643	c.637C>A	c.(637-639)Ctc>Atc	p.L213I	ITIH3_ENST00000416872.2_Missense_Mutation_p.L213I	NM_002217.3	NP_002208.3	Q06033	ITIH3_HUMAN	inter-alpha-trypsin inhibitor heavy chain 3	213					hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		GGGAAGCGCCCTCACCAAGTC	0.552																																					p.L213I		Atlas-SNP	.											.	ITIH3	132	.	0			c.C637A						.						65.0	66.0	66.0					3																	52831920		2059	4218	6277	SO:0001583	missense	3699	exon6			AGCGCCCTCACCA		CCDS46845.1	3p21.1	2011-10-26	2011-10-26		ENSG00000162267	ENSG00000162267			6168	protein-coding gene	gene with protein product	"""pre-alpha (globulin) inhibitor, H3 polypeptide"", ""inter-alpha-trypsin inhibitor heavy chain H3"""	146650	"""inter-alpha (globulin) inhibitor, H3 polypeptide"", ""inter-alpha (globulin) inhibitor H3"""			2465147, 10100603	Standard	NM_002217		Approved	H3P	uc003dfv.2	Q06033	OTTHUMG00000158956	ENST00000449956.2:c.637C>A	chr3.hg19:g.52831920C>A	ENSP00000415769:p.Leu213Ile	113.0	0.0		75.0	4.0	NM_002217	Q3B7H5|Q53F06|Q6LAM2|Q99085	Missense_Mutation	SNP	ENST00000449956.2	hg19	CCDS46845.1	.	.	.	.	.	.	.	.	.	.	C	7.580	0.668511	0.14776	.	.	ENSG00000162267	ENST00000398670;ENST00000536431;ENST00000273291;ENST00000416872;ENST00000449956	T;T	0.02682	4.2;4.87	5.02	5.02	0.67125	.	0.284466	0.33875	N	0.004463	T	0.02304	0.0071	N	0.04686	-0.185	0.31325	N	0.685504	D;B	0.56968	0.978;0.016	P;B	0.48270	0.572;0.01	T	0.47548	-0.9109	10	0.31617	T	0.26	-28.3717	9.3014	0.37847	0.0:0.9054:0.0:0.0946	.	213;213	E7ET33;Q06033	.;ITIH3_HUMAN	I	213;201;208;213;213	ENSP00000413922:L213I;ENSP00000415769:L213I	ENSP00000273291:L208I	L	+	1	0	ITIH3	52806960	0.495000	0.26051	1.000000	0.80357	0.942000	0.58702	0.833000	0.27504	2.618000	0.88619	0.655000	0.94253	CTC	.	.		0.552	ITIH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352668.2	NM_002217	
TKT	7086	hgsc.bcm.edu	37	3	53263137	53263137	+	Silent	SNP	G	G	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr3:53263137G>A	ENST00000462138.1	-	10	1369	c.1281C>T	c.(1279-1281)tcC>tcT	p.S427S	TKT_ENST00000423525.2_Silent_p.S427S|TKT_ENST00000423516.1_Silent_p.S435S|TKT_ENST00000461139.1_5'UTR|TKT_ENST00000296289.6_Silent_p.S380S			P29401	TKT_HUMAN	transketolase	427					carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|glyceraldehyde-3-phosphate biosynthetic process (GO:0046166)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, non-oxidative branch (GO:0009052)|regulation of growth (GO:0040008)|small molecule metabolic process (GO:0044281)|xylulose biosynthetic process (GO:0005999)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|peroxisome (GO:0005777)|vesicle (GO:0031982)	cofactor binding (GO:0048037)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|transketolase activity (GO:0004802)			endometrium(5)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17		Prostate(884;0.0959)		BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)		GGGCCATCTGGGAGGGCCCGT	0.567																																					p.S435S	Colon(133;1506 2347 35238 42177)	Atlas-SNP	.											.	TKT	38	.	0			c.C1305T						.						118.0	124.0	122.0					3																	53263137		2203	4300	6503	SO:0001819	synonymous_variant	7086	exon11			CATCTGGGAGGGC		CCDS2871.1, CCDS58834.1	3p14.3	2008-07-31	2008-07-31		ENSG00000163931	ENSG00000163931	2.2.1.1		11834	protein-coding gene	gene with protein product	"""Wernicke-Korsakoff syndrome"""	606781				1567394	Standard	NM_001064		Approved		uc011beq.2	P29401	OTTHUMG00000158192	ENST00000462138.1:c.1281C>T	chr3.hg19:g.53263137G>A		111.0	0.0		86.0	4.0	NM_001258028	A8K089|B4DE31|E7EPA7|Q8TBA3|Q96HH3	Silent	SNP	ENST00000462138.1	hg19	CCDS2871.1																																																																																			.	.		0.567	TKT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350356.1		
FAM107A	11170	hgsc.bcm.edu	37	3	58553082	58553082	+	Silent	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr3:58553082A>G	ENST00000394481.1	-	4	738	c.180T>C	c.(178-180)ggT>ggC	p.G60G	FAM107A_ENST00000447756.2_Silent_p.G88G|FAM107A_ENST00000360997.2_Silent_p.G60G|FAM107A_ENST00000474531.1_Silent_p.G91G|FAM107A_ENST00000464064.1_Silent_p.G60G	NM_001282713.1|NM_007177.2	NP_001269642.1|NP_009108.1	O95990	F107A_HUMAN	family with sequence similarity 107, member A	60					regulation of cell growth (GO:0001558)	neuron projection (GO:0043005)|nucleus (GO:0005634)				breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				BRCA - Breast invasive adenocarcinoma(55;0.000189)|Kidney(10;0.000536)|KIRC - Kidney renal clear cell carcinoma(10;0.000716)|OV - Ovarian serous cystadenocarcinoma(275;0.154)		TGCTGTCCACACCAAGGCCCC	0.637																																					p.G60G		Atlas-SNP	.											.	FAM107A	33	.	0			c.T180C						.						20.0	21.0	21.0					3																	58553082		2203	4300	6503	SO:0001819	synonymous_variant	11170	exon3			GTCCACACCAAGG	AF089854	CCDS2892.1, CCDS63672.1, CCDS63673.1	3p14.2	2006-02-03			ENSG00000168309	ENSG00000168309			30827	protein-coding gene	gene with protein product		608295				10564580, 10702698	Standard	XM_005264835		Approved	DRR1, TU3A	uc003dkn.3	O95990	OTTHUMG00000159159	ENST00000394481.1:c.180T>C	chr3.hg19:g.58553082A>G		154.0	0.0		112.0	5.0	NM_001076778	B3KNQ4|B7ZAY5|J3KR61|Q96NH4	Silent	SNP	ENST00000394481.1	hg19	CCDS2892.1																																																																																			.	.		0.637	FAM107A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353585.1	NM_007177	
PSMD6	9861	hgsc.bcm.edu	37	3	64005066	64005066	+	Missense_Mutation	SNP	C	C	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr3:64005066C>A	ENST00000295901.4	-	3	543	c.403G>T	c.(403-405)Ggt>Tgt	p.G135C	PSMD6_ENST00000394431.2_Missense_Mutation_p.G97C|PSMD6_ENST00000482510.1_Missense_Mutation_p.G96C|PSMD6_ENST00000492933.1_Missense_Mutation_p.G188C|RP11-245J9.6_ENST00000605919.1_RNA	NM_014814.1	NP_055629.1	Q15008	PSMD6_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 6	135					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATPase activity (GO:0016887)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(1)	13		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000805)|Kidney(15;0.00188)|KIRC - Kidney renal clear cell carcinoma(15;0.00212)		AATCGGTGACCCAGGGCCACA	0.423																																					p.G188C		Atlas-SNP	.											.	PSMD6	30	.	0			c.G562T						.						97.0	98.0	97.0					3																	64005066		2203	4300	6503	SO:0001583	missense	9861	exon4			GGTGACCCAGGGC	AF215935	CCDS2901.1, CCDS63677.1, CCDS63678.1, CCDS63679.1	3p14.1	2008-05-22			ENSG00000163636	ENSG00000163636		"""Proteasome (prosome, macropain) subunits"""	9564	protein-coding gene	gene with protein product						10723133	Standard	NM_001271779		Approved	S10, p44S10, KIAA0107, Rpn7	uc003dmb.2	Q15008	OTTHUMG00000158765	ENST00000295901.4:c.403G>T	chr3.hg19:g.64005066C>A	ENSP00000295901:p.Gly135Cys	152.0	0.0		94.0	4.0	NM_001271779	A8K2E0|E9PHI9|Q6UV22	Missense_Mutation	SNP	ENST00000295901.4	hg19	CCDS2901.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.959998	0.92791	.	.	ENSG00000163636	ENST00000295901;ENST00000492933;ENST00000394431;ENST00000482510;ENST00000497323	D;D;D;D;D	0.82711	-1.64;-1.64;-1.64;-1.64;-1.64	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	D	0.94473	0.8221	H	0.95917	3.74	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;1.0	D	0.95722	0.8767	10	0.87932	D	0	.	19.6523	0.95822	0.0:1.0:0.0:0.0	.	97;96;188;135	Q6UV22;E9PHI9;C9IZE4;Q15008	.;.;.;PSMD6_HUMAN	C	135;188;97;96;149	ENSP00000295901:G135C;ENSP00000418695:G188C;ENSP00000377952:G97C;ENSP00000419227:G96C;ENSP00000418887:G149C	ENSP00000295901:G135C	G	-	1	0	PSMD6	63980106	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.818000	0.86416	2.650000	0.89964	0.561000	0.74099	GGT	.	.		0.423	PSMD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352082.1	NM_014814	
ROBO2	6092	hgsc.bcm.edu	37	3	77612404	77612404	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr3:77612404A>G	ENST00000461745.1	+	11	2506	c.1606A>G	c.(1606-1608)Aac>Gac	p.N536D	ROBO2_ENST00000487694.3_Missense_Mutation_p.N552D|ROBO2_ENST00000332191.8_Missense_Mutation_p.N536D	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	536	Fibronectin type-III 1. {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)		TGTTACTAAGAACAGTGTCAC	0.473																																					p.N536D		Atlas-SNP	.											.	ROBO2	527	.	0			c.A1606G						.						98.0	95.0	96.0					3																	77612404		1907	4112	6019	SO:0001583	missense	6092	exon11			ACTAAGAACAGTG	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.1606A>G	chr3.hg19:g.77612404A>G	ENSP00000417164:p.Asn536Asp	179.0	0.0		117.0	6.0	NM_002942	O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	ENST00000461745.1	hg19	CCDS43109.1	.	.	.	.	.	.	.	.	.	.	A	31	5.060528	0.93846	.	.	ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000343019;ENST00000461745;ENST00000332191;ENST00000398467	T;T;T	0.57436	0.4;0.4;0.4	6.07	6.07	0.98685	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.49916	D	0.000124	T	0.59335	0.2186	L	0.31207	0.915	0.36918	D	0.891261	P;P;P	0.44734	0.842;0.7;0.621	P;P;P	0.56823	0.785;0.807;0.745	T	0.63134	-0.6705	9	0.51188	T	0.08	.	16.6406	0.85098	1.0:0.0:0.0:0.0	.	552;536;536	Q19AB5;F8W703;Q9HCK4	.;.;ROBO2_HUMAN	D	552;552;556;536;536;257	ENSP00000417335:N552D;ENSP00000417164:N536D;ENSP00000327536:N536D	ENSP00000327536:N536D	N	+	1	0	ROBO2	77695094	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.326000	0.78906	0.533000	0.62120	AAC	.	.		0.473	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246	
EPHA6	285220	hgsc.bcm.edu	37	3	96706219	96706219	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr3:96706219A>G	ENST00000389672.5	+	3	534	c.496A>G	c.(496-498)Aca>Gca	p.T166A	EPHA6_ENST00000542517.1_Missense_Mutation_p.T72A|EPHA6_ENST00000470610.2_Missense_Mutation_p.T166A	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	72	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.					integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						GCCCATTCACACATACCAGGT	0.378																																					p.T166A		Atlas-SNP	.											EPHA6_ENST00000389672,caecum,carcinoma,0,3	EPHA6	439	.	0			c.A496G						.						108.0	104.0	105.0					3																	96706219		1878	4110	5988	SO:0001583	missense	285220	exon3			ATTCACACATACC	AK092565	CCDS46876.1, CCDS54616.1, CCDS63697.1	3q12.1	2013-02-11	2004-10-28		ENSG00000080224	ENSG00000080224		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19296	protein-coding gene	gene with protein product		600066				12471243	Standard	NM_001080448		Approved	FLJ35246	uc010how.1	Q9UF33	OTTHUMG00000159208	ENST00000389672.5:c.496A>G	chr3.hg19:g.96706219A>G	ENSP00000374323:p.Thr166Ala	117.0	0.0		91.0	4.0	NM_001080448	D6RAL5	Missense_Mutation	SNP	ENST00000389672.5	hg19	CCDS46876.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	23.0|23.0	4.365329|4.365329	0.82463|0.82463	.|.	.|.	ENSG00000080224|ENSG00000080224	ENST00000506569|ENST00000470610;ENST00000389672;ENST00000542517	T|T;T;T	0.02737|0.10288	4.18|2.89;2.89;2.89	5.74|5.74	5.74|5.74	0.90152|0.90152	.|.	.|0.000000	.|0.64402	.|U	.|0.000002	T|T	0.36908|0.36908	0.0984|0.0984	M|M	0.82056|0.82056	2.57|2.57	0.80722|0.80722	D|D	1|1	.|D;D	.|0.76494	.|0.999;0.999	.|D;D	.|0.85130	.|0.997;0.997	T|T	0.20773|0.20773	-1.0265|-1.0265	7|10	0.02654|0.87932	T|D	1|0	.|.	16.0486|16.0486	0.80740|0.80740	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|166;166	.|B3KS12;E7EU71	.|.;.	R|A	110|166;166;72	ENSP00000425132:H110R|ENSP00000420598:T166A;ENSP00000374323:T166A;ENSP00000439758:T72A	ENSP00000425132:H110R|ENSP00000374323:T166A	H|T	+|+	2|1	0|0	EPHA6|EPHA6	98188909|98188909	1.000000|1.000000	0.71417|0.71417	0.988000|0.988000	0.46212|0.46212	0.953000|0.953000	0.61014|0.61014	9.339000|9.339000	0.96797|0.96797	2.183000|2.183000	0.69458|0.69458	0.533000|0.533000	0.62120|0.62120	CAC|ACA	.	.		0.378	EPHA6-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353845.3	NM_001080448	
NIT2	56954	hgsc.bcm.edu	37	3	100073624	100073624	+	Missense_Mutation	SNP	T	T	C	rs17851799		TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr3:100073624T>C	ENST00000394140.4	+	9	783	c.692T>C	c.(691-693)gTt>gCt	p.V231A		NM_020202.4	NP_064587.1	Q9NQR4	NIT2_HUMAN	nitrilase family, member 2	231	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.		V -> A (in dbSNP:rs17851799). {ECO:0000269|PubMed:15489334}.		asparagine metabolic process (GO:0006528)|glutamine metabolic process (GO:0006541)|oxaloacetate metabolic process (GO:0006107)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	omega-amidase activity (GO:0050152)			breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)	17						AGGGGGGAGGTTCTAGCCAAA	0.458																																					p.V231A		Atlas-SNP	.											.	NIT2	35	.	0			c.T692C						.						132.0	129.0	130.0					3																	100073624		2203	4300	6503	SO:0001583	missense	56954	exon9			GGGAGGTTCTAGC	AF284574	CCDS33806.1	3q12.3	2004-07-12			ENSG00000114021	ENSG00000114021			29878	protein-coding gene	gene with protein product						10959838	Standard	NM_020202		Approved		uc003dtv.3	Q9NQR4	OTTHUMG00000159066	ENST00000394140.4:c.692T>C	chr3.hg19:g.100073624T>C	ENSP00000377696:p.Val231Ala	136.0	0.0		89.0	4.0	NM_020202	B2R9A3|D3DN47|Q8WUF0	Missense_Mutation	SNP	ENST00000394140.4	hg19	CCDS33806.1	.	.	.	.	.	.	.	.	.	.	T	28.8	4.950321	0.92660	.	.	ENSG00000114021	ENST00000394140	T	0.70282	-0.47	5.9	5.9	0.94986	Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase (3);	0.000000	0.85682	D	0.000000	D	0.85146	0.5630	M	0.90922	3.16	0.58432	D	0.999999	D	0.57571	0.98	P	0.56916	0.809	D	0.88642	0.3176	10	0.87932	D	0	-34.3945	15.9847	0.80142	0.0:0.0:0.0:1.0	rs17851799	231	Q9NQR4	NIT2_HUMAN	A	231	ENSP00000377696:V231A	ENSP00000377696:V231A	V	+	2	0	NIT2	101556314	1.000000	0.71417	0.994000	0.49952	0.975000	0.68041	6.951000	0.75983	2.254000	0.74563	0.482000	0.46254	GTT	.	T|1.000;|0.000		0.458	NIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353142.2	NM_020202	
IMPG2	50939	hgsc.bcm.edu	37	3	100976517	100976517	+	Missense_Mutation	SNP	C	C	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr3:100976517C>T	ENST00000193391.7	-	10	1196	c.1009G>A	c.(1009-1011)Ggc>Agc	p.G337S		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	337	SEA 1. {ECO:0000255|PROSITE- ProRule:PRU00188}.				visual perception (GO:0007601)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)|receptor complex (GO:0043235)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64					Hyaluronan(DB08818)	TCCACAAGGCCATGGTTTTCC	0.433																																					p.G337S		Atlas-SNP	.											.	IMPG2	164	.	0			c.G1009A						.						131.0	125.0	127.0					3																	100976517		2203	4300	6503	SO:0001583	missense	50939	exon10			CAAGGCCATGGTT	AF173155	CCDS2940.1	3q12.2-q12.3	2014-01-28			ENSG00000081148	ENSG00000081148			18362	protein-coding gene	gene with protein product		607056				10542133	Standard	NM_016247		Approved	IPM200, RP56	uc003duq.2	Q9BZV3	OTTHUMG00000159091	ENST00000193391.7:c.1009G>A	chr3.hg19:g.100976517C>T	ENSP00000193391:p.Gly337Ser	144.0	0.0		80.0	4.0	NM_016247	A8MWT5|Q9UKD4|Q9UKK5	Missense_Mutation	SNP	ENST00000193391.7	hg19	CCDS2940.1	.	.	.	.	.	.	.	.	.	.	C	17.41	3.383034	0.61845	.	.	ENSG00000081148	ENST00000193391	T	0.31510	1.49	5.38	5.38	0.77491	SEA (1);	0.346876	0.27901	N	0.017394	T	0.34135	0.0887	L	0.43152	1.355	0.32154	N	0.583802	P;P	0.51791	0.948;0.948	P;P	0.50896	0.653;0.526	T	0.25082	-1.0142	10	0.18276	T	0.48	-10.6737	13.2983	0.60311	0.1682:0.8318:0.0:0.0	.	337;337	F1T0J3;Q9BZV3	.;IMPG2_HUMAN	S	337	ENSP00000193391:G337S	ENSP00000193391:G337S	G	-	1	0	IMPG2	102459207	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	2.202000	0.42743	2.522000	0.85027	0.313000	0.20887	GGC	.	.		0.433	IMPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353256.3		
SIDT1	54847	hgsc.bcm.edu	37	3	113300279	113300279	+	Silent	SNP	C	C	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr3:113300279C>A	ENST00000264852.4	+	6	1461	c.735C>A	c.(733-735)gcC>gcA	p.A245A	SIDT1_ENST00000393830.3_Silent_p.A245A	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1	245					dsRNA transport (GO:0033227)	integral component of membrane (GO:0016021)	RNA transmembrane transporter activity (GO:0051033)			breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						AGAAAGCTGCCATCACGCTAC	0.468																																					p.A245A		Atlas-SNP	.											.	SIDT1	99	.	0			c.C735A						.						197.0	154.0	168.0					3																	113300279		2203	4300	6503	SO:0001819	synonymous_variant	54847	exon6			AGCTGCCATCACG	AK000181	CCDS2974.1	3q13.31	2009-11-26			ENSG00000072858	ENSG00000072858			25967	protein-coding gene	gene with protein product		606816					Standard	NM_017699		Approved	FLJ20174, SID-1	uc003eak.3	Q9NXL6	OTTHUMG00000159299	ENST00000264852.4:c.735C>A	chr3.hg19:g.113300279C>A		136.0	0.0		89.0	4.0	NM_017699	Q17RR4	Silent	SNP	ENST00000264852.4	hg19	CCDS2974.1																																																																																			.	.		0.468	SIDT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317564.1	NM_017699	
ADPRH	141	hgsc.bcm.edu	37	3	119301263	119301263	+	Missense_Mutation	SNP	C	C	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr3:119301263C>A	ENST00000478399.1	+	2	1652	c.247C>A	c.(247-249)Ctt>Att	p.L83I	ADPRH_ENST00000357003.3_Missense_Mutation_p.L83I|ADPRH_ENST00000471850.1_Intron|RP11-190C22.9_ENST00000609385.1_RNA|ADPRH_ENST00000465513.1_Missense_Mutation_p.L83I|ADPRH_ENST00000478927.1_Missense_Mutation_p.L83I			P54922	ADPRH_HUMAN	ADP-ribosylarginine hydrolase	83					cellular protein modification process (GO:0006464)|protein de-ADP-ribosylation (GO:0051725)		ADP-ribosylarginine hydrolase activity (GO:0003875)|magnesium ion binding (GO:0000287)			breast(1)|kidney(1)|lung(10)|ovary(1)	13		Lung NSC(201;0.0977)		GBM - Glioblastoma multiforme(114;0.23)		GTATTACCTCCTTGCTAAGCA	0.527																																					p.L83I	GBM(133;579 1804 5989 9967 40052)	Atlas-SNP	.											.	ADPRH	33	.	0			c.C247A						.						82.0	76.0	78.0					3																	119301263		2203	4300	6503	SO:0001583	missense	141	exon3			TACCTCCTTGCTA	L13291	CCDS2990.1	3q13.31-q13.33	2004-02-27			ENSG00000144843	ENSG00000144843			269	protein-coding gene	gene with protein product		603081				8349667, 12070318	Standard	NM_001125		Approved	ARH1	uc003ecs.3	P54922	OTTHUMG00000159420	ENST00000478399.1:c.247C>A	chr3.hg19:g.119301263C>A	ENSP00000420200:p.Leu83Ile	137.0	0.0		72.0	4.0	NM_001125	B2R8H1|D3DN83	Missense_Mutation	SNP	ENST00000478399.1	hg19	CCDS2990.1	.	.	.	.	.	.	.	.	.	.	C	13.07	2.128523	0.37533	.	.	ENSG00000144843	ENST00000478399;ENST00000481816;ENST00000478927;ENST00000357003;ENST00000465513	T;T;T;T;T	0.35236	1.32;1.32;1.32;1.32;1.32	5.85	1.5	0.22942	.	0.423096	0.25732	N	0.028669	T	0.24890	0.0604	L	0.40543	1.245	0.37829	D	0.92866	B	0.09022	0.002	B	0.20767	0.031	T	0.09037	-1.0693	10	0.22109	T	0.4	-27.5155	7.1916	0.25828	0.2543:0.595:0.0:0.1507	.	83	P54922	ADPRH_HUMAN	I	83	ENSP00000420200:L83I;ENSP00000419703:L83I;ENSP00000417528:L83I;ENSP00000349496:L83I;ENSP00000417430:L83I	ENSP00000349496:L83I	L	+	1	0	ADPRH	120783953	0.000000	0.05858	0.981000	0.43875	0.974000	0.67602	-0.469000	0.06648	0.363000	0.24346	0.552000	0.68991	CTT	.	.		0.527	ADPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355199.1	NM_001125	
PLA1A	51365	hgsc.bcm.edu	37	3	119334916	119334916	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr3:119334916A>G	ENST00000273371.4	+	6	794	c.722A>G	c.(721-723)gAc>gGc	p.D241G	PLA1A_ENST00000488919.1_Missense_Mutation_p.D68G|PLA1A_ENST00000494440.1_Missense_Mutation_p.D225G|PLA1A_ENST00000495992.1_Missense_Mutation_p.D225G	NM_015900.3	NP_056984.1	Q53H76	PLA1A_HUMAN	phospholipase A1 member A	241					lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)|phosphatidylserine metabolic process (GO:0006658)	extracellular vesicular exosome (GO:0070062)	phosphatidylcholine 1-acylhydrolase activity (GO:0008970)			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GGAGGCCAAGACCAACCTGGC	0.493																																					p.D241G		Atlas-SNP	.											.	PLA1A	65	.	0			c.A722G						.						119.0	97.0	104.0					3																	119334916		2203	4300	6503	SO:0001583	missense	51365	exon6			GCCAAGACCAACC	AF035268	CCDS2991.1, CCDS56268.1, CCDS56269.1	3q13.13-q13.2	2002-11-28			ENSG00000144837	ENSG00000144837			17661	protein-coding gene	gene with protein product		607460				10196188	Standard	NM_015900		Approved	ps-PLA1	uc003ecu.3	Q53H76	OTTHUMG00000159425	ENST00000273371.4:c.722A>G	chr3.hg19:g.119334916A>G	ENSP00000273371:p.Asp241Gly	128.0	0.0		84.0	4.0	NM_015900	B2R8V2|B4DXA2|O95991|Q86WX6|Q9UPD2	Missense_Mutation	SNP	ENST00000273371.4	hg19	CCDS2991.1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.184821	0.78677	.	.	ENSG00000144837	ENST00000273371;ENST00000488919;ENST00000495992;ENST00000494440;ENST00000475963	D;D;D;D;D	0.90620	-2.7;-2.7;-2.7;-2.7;-2.7	5.23	5.23	0.72850	Lipase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.93194	0.7832	L	0.59436	1.845	0.46096	D	0.998868	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.91242	0.5022	10	0.23891	T	0.37	-17.078	12.6803	0.56918	1.0:0.0:0.0:0.0	.	225;241	Q53H76-3;Q53H76	.;PLA1A_HUMAN	G	241;68;225;225;107	ENSP00000273371:D241G;ENSP00000420625:D68G;ENSP00000417326:D225G;ENSP00000418793:D225G;ENSP00000417295:D107G	ENSP00000273371:D241G	D	+	2	0	PLA1A	120817606	1.000000	0.71417	1.000000	0.80357	0.599000	0.36880	8.267000	0.89874	2.223000	0.72356	0.454000	0.30748	GAC	.	.		0.493	PLA1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355252.2		
UROC1	131669	hgsc.bcm.edu	37	3	126220121	126220121	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr3:126220121T>C	ENST00000290868.2	-	10	958	c.905A>G	c.(904-906)gAa>gGa	p.E302G	UROC1_ENST00000383579.3_Missense_Mutation_p.E362G	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	302					cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	urocanate hydratase activity (GO:0016153)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		TTTCCTTGCTTCCCTGGAAGG	0.587																																					p.E362G		Atlas-SNP	.											.	UROC1	150	.	0			c.A1085G						.						182.0	173.0	176.0					3																	126220121		2203	4300	6503	SO:0001583	missense	131669	exon11			CTTGCTTCCCTGG	AK055862	CCDS3038.1, CCDS54636.1	3q21.2	2012-08-21	2012-08-21		ENSG00000159650	ENSG00000159650	4.2.1.49		26444	protein-coding gene	gene with protein product	"""urocanase 1"""	613012	"""urocanase domain containing 1"""			19304569	Standard	NM_144639		Approved	FLJ31300, HMFN0320	uc010hsi.2	Q96N76	OTTHUMG00000162753	ENST00000290868.2:c.905A>G	chr3.hg19:g.126220121T>C	ENSP00000290868:p.Glu302Gly	83.0	0.0		50.0	4.0	NM_001165974	E9PE13|Q14C64|Q68CJ7	Missense_Mutation	SNP	ENST00000290868.2	hg19	CCDS3038.1	.	.	.	.	.	.	.	.	.	.	T	14.15	2.449780	0.43531	.	.	ENSG00000159650	ENST00000290868;ENST00000383579	T;T	0.49432	0.78;0.78	4.95	2.37	0.29283	Urocanase domain (2);	0.104250	0.64402	D	0.000004	T	0.54046	0.1834	M	0.77313	2.365	0.48762	D	0.999701	P;B	0.37688	0.605;0.292	P;B	0.45712	0.491;0.232	T	0.53229	-0.8468	10	0.72032	D	0.01	-9.8843	8.2748	0.31866	0.317:0.0:0.0:0.683	.	362;302	E9PE13;Q96N76	.;HUTU_HUMAN	G	302;362	ENSP00000290868:E302G;ENSP00000373073:E362G	ENSP00000290868:E302G	E	-	2	0	UROC1	127702811	1.000000	0.71417	0.994000	0.49952	0.184000	0.23303	5.644000	0.67902	0.183000	0.20059	0.402000	0.26972	GAA	.	.		0.587	UROC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370325.2	NM_144639	
KBTBD12	166348	hgsc.bcm.edu	37	3	127646843	127646843	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr3:127646843A>G	ENST00000405109.1	+	3	1774	c.1307A>G	c.(1306-1308)aAt>aGt	p.N436S	KBTBD12_ENST00000405256.1_Missense_Mutation_p.N436S|KBTBD12_ENST00000343941.4_Intron|KBTBD12_ENST00000407609.3_Missense_Mutation_p.N43S|KBTBD12_ENST00000492025.1_Intron			Q3ZCT8	KBTBC_HUMAN	kelch repeat and BTB (POZ) domain containing 12	436										endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						ACAGTGAATAATAAACTTTAT	0.408																																					p.N436S		Atlas-SNP	.											.	KBTBD12	41	.	0			c.A1307G						.						57.0	63.0	61.0					3																	127646843		2162	4276	6438	SO:0001583	missense	166348	exon2			TGAATAATAAACT		CCDS33848.2	3q21.3	2013-01-08	2009-10-01	2009-10-01	ENSG00000187715	ENSG00000187715		"""BTB/POZ domain containing"""	25731	protein-coding gene	gene with protein product			"""kelch domain containing 6"""	KLHDC6			Standard	NM_207335		Approved	FLJ46299	uc010hsr.3	Q3ZCT8	OTTHUMG00000150508	ENST00000405109.1:c.1307A>G	chr3.hg19:g.127646843A>G	ENSP00000385957:p.Asn436Ser	118.0	0.0		68.0	4.0	NM_207335	B5MCC6|Q6ZRK1	Missense_Mutation	SNP	ENST00000405109.1	hg19	CCDS33848.2	.	.	.	.	.	.	.	.	.	.	A	12.47	1.947802	0.34377	.	.	ENSG00000187715	ENST00000405109;ENST00000407609;ENST00000405256	T;T;T	0.80123	-1.34;-1.34;-1.34	5.94	3.55	0.40652	Kelch-type beta propeller (1);	.	.	.	.	T	0.73938	0.3651	L	0.38733	1.17	0.09310	N	1	B	0.20164	0.042	B	0.28385	0.089	T	0.64960	-0.6284	9	0.66056	D	0.02	.	10.1318	0.42682	0.865:0.0:0.135:0.0	.	436	Q3ZCT8	KBTBC_HUMAN	S	436;43;436	ENSP00000385957:N436S;ENSP00000385830:N43S;ENSP00000385879:N436S	ENSP00000385957:N436S	N	+	2	0	KBTBD12	129129533	0.954000	0.32549	0.001000	0.08648	0.894000	0.52154	4.058000	0.57463	0.492000	0.27815	0.482000	0.46254	AAT	.	.		0.408	KBTBD12-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318682.1	NM_207335	
NEK11	79858	hgsc.bcm.edu	37	3	130881262	130881262	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr3:130881262A>G	ENST00000510769.1	+	7	911	c.658A>G	c.(658-660)Atc>Gtc	p.I220V	NEK11_ENST00000412440.2_Missense_Mutation_p.I177V|NEK11_ENST00000510688.1_Missense_Mutation_p.I325V|NEK11_ENST00000356918.4_Missense_Mutation_p.I325V|NEK11_ENST00000429253.2_Missense_Mutation_p.I325V|NEK11_ENST00000508196.1_Missense_Mutation_p.I325V|NEK11_ENST00000383366.4_Missense_Mutation_p.I325V|NEK11_ENST00000507910.1_Missense_Mutation_p.I325V|NEK11_ENST00000511262.1_Missense_Mutation_p.I325V					NIMA-related kinase 11											breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						GCAAAAAAGGATCCACCTGCA	0.418																																					p.I325V		Atlas-SNP	.											.	NEK11	76	.	0			c.A973G						.						141.0	164.0	156.0					3																	130881262		2203	4300	6503	SO:0001583	missense	79858	exon11			AAAAGGATCCACC	AK027148	CCDS3069.1, CCDS46915.1, CCDS54639.1	3q22.1	2012-11-15	2012-11-15		ENSG00000114670	ENSG00000114670			18593	protein-coding gene	gene with protein product		609779	"""NIMA (never in mitosis gene a)- related kinase 11"""				Standard	NM_024800		Approved	FLJ23495	uc003eny.3	Q8NG66	OTTHUMG00000159654	ENST00000510769.1:c.658A>G	chr3.hg19:g.130881262A>G	ENSP00000421549:p.Ile220Val	194.0	0.0		146.0	6.0	NM_024800		Missense_Mutation	SNP	ENST00000510769.1	hg19		.	.	.	.	.	.	.	.	.	.	A	8.264	0.811885	0.16537	.	.	ENSG00000114670	ENST00000510769;ENST00000429253;ENST00000356918;ENST00000510688;ENST00000511262;ENST00000383366;ENST00000412440;ENST00000507910;ENST00000508196	T;T;T;T;T;T;T;T;T	0.71461	-0.1;-0.3;-0.43;-0.34;-0.42;-0.3;-0.57;-0.43;-0.3	5.41	0.298	0.15766	.	0.557096	0.16029	N	0.232962	T	0.50769	0.1635	L	0.41710	1.295	0.20403	N	0.999903	B;B;B;B;B;B	0.13594	0.0;0.008;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.12156	0.001;0.007;0.0;0.002;0.001;0.001	T	0.21655	-1.0239	10	0.19147	T	0.46	.	1.1536	0.01791	0.268:0.3471:0.2371:0.1478	.	325;220;177;325;325;325	Q8NG66-3;E9PHI8;B4DDN2;Q8NG66-4;Q8NG66;Q8NG66-2	.;.;.;.;NEK11_HUMAN;.	V	220;325;325;325;325;325;177;325;325	ENSP00000421549:I220V;ENSP00000397180:I325V;ENSP00000349389:I325V;ENSP00000423458:I325V;ENSP00000425114:I325V;ENSP00000372857:I325V;ENSP00000411888:I177V;ENSP00000426662:I325V;ENSP00000421851:I325V	ENSP00000349389:I325V	I	+	1	0	NEK11	132363952	0.993000	0.37304	0.009000	0.14445	0.987000	0.75469	0.654000	0.24918	0.035000	0.15519	0.397000	0.26171	ATC	.	.		0.418	NEK11-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000356757.1	NM_024800	
PCOLCE2	26577	hgsc.bcm.edu	37	3	142607734	142607734	+	Missense_Mutation	SNP	C	C	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr3:142607734C>T	ENST00000295992.3	-	1	311	c.5G>A	c.(4-6)aGg>aAg	p.R2K	PCOLCE2_ENST00000461818.1_5'UTR|PCOLCE2_ENST00000485766.1_Missense_Mutation_p.R2K	NM_013363.3	NP_037495.1	Q9UKZ9	PCOC2_HUMAN	procollagen C-endopeptidase enhancer 2	2					positive regulation of peptidase activity (GO:0010952)	extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|peptidase activator activity (GO:0016504)			NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	32						GTTCGCGCCCCTCATGGCAGC	0.746																																					p.R2K		Atlas-SNP	.											.	PCOLCE2	63	.	0			c.G5A						.						14.0	21.0	18.0					3																	142607734		2178	4271	6449	SO:0001583	missense	26577	exon1			GCGCCCCTCATGG	AF098269	CCDS3127.1	3q21-q24	2008-07-18			ENSG00000163710	ENSG00000163710			8739	protein-coding gene	gene with protein product		607064				10873381	Standard	NM_013363		Approved	PCPE2	uc003evd.3	Q9UKZ9	OTTHUMG00000159312	ENST00000295992.3:c.5G>A	chr3.hg19:g.142607734C>T	ENSP00000295992:p.Arg2Lys	85.0	0.0		89.0	4.0	NM_013363	B2RCH9|D3DNG4|Q9BRH3	Missense_Mutation	SNP	ENST00000295992.3	hg19	CCDS3127.1	.	.	.	.	.	.	.	.	.	.	C	18.21	3.574063	0.65765	.	.	ENSG00000163710	ENST00000295992;ENST00000485766	T;T	0.21031	2.22;2.03	3.77	2.89	0.33648	.	0.988811	0.08226	N	0.978427	T	0.11410	0.0278	N	0.08118	0	0.19775	N	0.999958	B	0.06786	0.001	B	0.08055	0.003	T	0.27262	-1.0079	10	0.46703	T	0.11	-3.0791	6.8928	0.24238	0.0:0.871:0.0:0.129	.	2	Q9UKZ9	PCOC2_HUMAN	K	2	ENSP00000295992:R2K;ENSP00000419842:R2K	ENSP00000295992:R2K	R	-	2	0	PCOLCE2	144090424	0.996000	0.38824	1.000000	0.80357	0.983000	0.72400	1.709000	0.37909	0.790000	0.33803	0.455000	0.32223	AGG	.	.		0.746	PCOLCE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354509.1	NM_013363	
HPS3	84343	hgsc.bcm.edu	37	3	148847621	148847621	+	Silent	SNP	G	G	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr3:148847621G>T	ENST00000296051.2	+	1	251	c.111G>T	c.(109-111)gcG>gcT	p.A37A	HPS3_ENST00000460120.1_Silent_p.A37A|HPS3_ENST00000494327.1_3'UTR	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	37					organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TCGTGGCGGCGGGCTGCAAGG	0.716									Hermansky-Pudlak syndrome																												p.A37A		Atlas-SNP	.											.	HPS3	104	.	0			c.G111T						.						13.0	14.0	13.0					3																	148847621		2173	4265	6438	SO:0001819	synonymous_variant	84343	exon1	Familial Cancer Database	HPS, HPS1-8	GGCGGCGGGCTGC	AY033141	CCDS3140.1	3q24	2014-06-18			ENSG00000163755	ENSG00000163755			15597	protein-coding gene	gene with protein product		606118				11455388	Standard	NM_032383		Approved	SUTAL	uc003ewu.1	Q969F9	OTTHUMG00000159548	ENST00000296051.2:c.111G>T	chr3.hg19:g.148847621G>T		92.0	0.0		68.0	4.0	NM_032383	A8K6G6|Q8WTV6|Q96AP1|Q96MR3|Q9H608	Silent	SNP	ENST00000296051.2	hg19	CCDS3140.1																																																																																			.	.		0.716	HPS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356151.1	NM_032383	
WWTR1	25937	hgsc.bcm.edu	37	3	149375035	149375035	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr3:149375035A>G	ENST00000465804.1	-	3	315	c.59T>C	c.(58-60)gTc>gCc	p.V20A	WWTR1_ENST00000360632.3_Missense_Mutation_p.V20A|WWTR1_ENST00000467467.1_Missense_Mutation_p.V20A|WWTR1-AS1_ENST00000495094.1_RNA|WWTR1-AS1_ENST00000466836.1_RNA|WWTR1-AS1_ENST00000479752.1_RNA	NM_001168278.1	NP_001161750.1	Q9GZV5	WWTR1_HUMAN	WW domain containing transcription regulator 1	20					cilium morphogenesis (GO:0060271)|gene expression (GO:0010467)|glomerulus development (GO:0032835)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoblast differentiation (GO:0001649)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of SMAD protein import into nucleus (GO:0060390)|regulation of transcription, DNA-templated (GO:0006355)|stem cell division (GO:0017145)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(5)|cervix(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	23			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			GTCCTGCGTGACGTGGATCAC	0.552			T	CAMTA1	epitheliod hemangioendothelioma																																p.V20A		Atlas-SNP	.		Dom	yes		3	3q23-q24	607392	WW domain containing transcription regulator 1		M	.	WWTR1	42	.	0			c.T59C						.						32.0	33.0	33.0					3																	149375035		2201	4300	6501	SO:0001583	missense	25937	exon3			TGCGTGACGTGGA	AK022036	CCDS3144.1	3q23-q24	2004-12-03			ENSG00000018408	ENSG00000018408			24042	protein-coding gene	gene with protein product		607392				11118213, 15096513	Standard	NM_015472		Approved	TAZ, DKFZp586I1419	uc021xfm.1	Q9GZV5	OTTHUMG00000159614	ENST00000465804.1:c.59T>C	chr3.hg19:g.149375035A>G	ENSP00000419465:p.Val20Ala	133.0	0.0		88.0	4.0	NM_001168278	D3DNH7|Q8N3P2|Q9Y3W6	Missense_Mutation	SNP	ENST00000465804.1	hg19	CCDS3144.1	.	.	.	.	.	.	.	.	.	.	A	34	5.411334	0.96072	.	.	ENSG00000018408	ENST00000465804;ENST00000360632;ENST00000467467;ENST00000479238;ENST00000485352;ENST00000475579;ENST00000460517	T;T;T;T	0.63255	-0.03;-0.03;-0.03;0.17	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.65302	0.2678	N	0.19112	0.55	0.80722	D	1	D	0.58970	0.984	D	0.65443	0.935	T	0.68746	-0.5327	10	0.51188	T	0.08	-22.7957	14.5437	0.68013	1.0:0.0:0.0:0.0	.	20	Q9GZV5	WWTR1_HUMAN	A	20	ENSP00000419465:V20A;ENSP00000353847:V20A;ENSP00000419234:V20A;ENSP00000418580:V20A	ENSP00000353847:V20A	V	-	2	0	WWTR1	150857725	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.792000	0.91856	1.912000	0.55364	0.379000	0.24179	GTC	.	.		0.552	WWTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356498.1	NM_015472	
MED12L	116931	hgsc.bcm.edu	37	3	150834201	150834201	+	Missense_Mutation	SNP	C	C	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr3:150834201C>T	ENST00000474524.1	+	2	214	c.176C>T	c.(175-177)gCc>gTc	p.A59V	MED12L_ENST00000309237.4_Missense_Mutation_p.A59V|MED12L_ENST00000422248.2_Missense_Mutation_p.A59V|MED12L_ENST00000273432.4_Missense_Mutation_p.A59V	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	59						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CATGGCTCAGCCAGAAATATT	0.373																																					p.A59V		Atlas-SNP	.											.	MED12L	271	.	0			c.C176T						.						108.0	104.0	105.0					3																	150834201		2203	4300	6503	SO:0001583	missense	116931	exon2			GCTCAGCCAGAAA	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.176C>T	chr3.hg19:g.150834201C>T	ENSP00000417235:p.Ala59Val	138.0	0.0		93.0	5.0	NM_053002	Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	ENST00000474524.1	hg19	CCDS33876.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.167084	0.78339	.	.	ENSG00000144893	ENST00000422248;ENST00000309237;ENST00000474524;ENST00000273432	T;T;T;T	0.62788	0.22;0.22;0.14;-0.0	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.75510	0.3859	L	0.52126	1.63	0.31001	N	0.72029	B;B;B;D	0.71674	0.288;0.19;0.288;0.998	B;B;B;D	0.76071	0.133;0.063;0.202;0.987	T	0.77135	-0.2699	10	0.87932	D	0	-5.9941	18.204	0.89848	0.0:1.0:0.0:0.0	.	59;59;59;59	F8WAE6;Q86YW9;Q86YW9-2;Q86YW9-3	.;MD12L_HUMAN;.;.	V	59	ENSP00000403308:A59V;ENSP00000310760:A59V;ENSP00000417235:A59V;ENSP00000273432:A59V	ENSP00000273432:A59V	A	+	2	0	MED12L	152316891	1.000000	0.71417	1.000000	0.80357	0.643000	0.38383	5.678000	0.68153	2.383000	0.81215	0.491000	0.48974	GCC	.	.		0.373	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002	
MED12L	116931	hgsc.bcm.edu	37	3	150911344	150911344	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr3:150911344T>C	ENST00000474524.1	+	14	2074	c.2036T>C	c.(2035-2037)gTt>gCt	p.V679A	MED12L_ENST00000309237.4_Missense_Mutation_p.V714A|MED12L_ENST00000422248.2_Missense_Mutation_p.V679A|MED12L_ENST00000273432.4_Missense_Mutation_p.V539A	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	679						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AGAATGTCAGTTAATTGTGAG	0.388																																					p.V679A		Atlas-SNP	.											.	MED12L	271	.	0			c.T2036C						.						105.0	102.0	103.0					3																	150911344		2203	4300	6503	SO:0001583	missense	116931	exon14			TGTCAGTTAATTG	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.2036T>C	chr3.hg19:g.150911344T>C	ENSP00000417235:p.Val679Ala	148.0	0.0		122.0	5.0	NM_053002	Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	ENST00000474524.1	hg19	CCDS33876.1	.	.	.	.	.	.	.	.	.	.	T	1.261	-0.615894	0.03663	.	.	ENSG00000144893	ENST00000422248;ENST00000309237;ENST00000474524;ENST00000273432	T;T;T;T	0.28666	1.6;1.6;1.6;1.6	5.37	4.18	0.49190	Mediator complex, subunit Med12, LCEWAV-domain (1);	0.557908	0.19986	N	0.101662	T	0.20780	0.0500	L	0.27053	0.805	0.09310	N	1	B;B;B;B	0.15930	0.003;0.001;0.0;0.015	B;B;B;B	0.16289	0.01;0.015;0.002;0.013	T	0.18650	-1.0330	10	0.72032	D	0.01	-0.7559	7.2156	0.25957	0.0:0.0745:0.1474:0.7781	.	539;679;679;714	F8WAE6;Q86YW9;Q86YW9-2;Q86YW9-3	.;MD12L_HUMAN;.;.	A	679;714;679;539	ENSP00000403308:V679A;ENSP00000310760:V714A;ENSP00000417235:V679A;ENSP00000273432:V539A	ENSP00000273432:V539A	V	+	2	0	MED12L	152394034	0.263000	0.24083	0.025000	0.17156	0.432000	0.31715	1.849000	0.39318	0.929000	0.37192	0.533000	0.62120	GTT	.	.		0.388	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002	
ARHGEF26	26084	hgsc.bcm.edu	37	3	153840493	153840493	+	Missense_Mutation	SNP	A	A	G	rs376185280		TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr3:153840493A>G	ENST00000356448.4	+	2	996	c.712A>G	c.(712-714)Aac>Gac	p.N238D	ARHGEF26-AS1_ENST00000467912.1_RNA|ARHGEF26_ENST00000465817.1_Missense_Mutation_p.N238D|ARHGEF26-AS1_ENST00000480639.1_RNA|ARHGEF26-AS1_ENST00000491862.1_RNA|ARHGEF26_ENST00000465093.1_Missense_Mutation_p.N238D|ARHGEF26-AS1_ENST00000479270.1_RNA	NM_001251962.1	NP_001238891.1	Q96DR7	ARHGQ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 26	238					endothelial cell morphogenesis (GO:0001886)|ruffle assembly (GO:0097178)	cell projection (GO:0042995)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	23						TTTGAGTACAAACAGCCCCGC	0.512																																					p.N238D	GBM(163;191 2003 24758 29593 48540)|Ovarian(152;631 1885 20165 22910 51013)	Atlas-SNP	.											.	ARHGEF26	158	.	0			c.A712G						.						15.0	17.0	16.0					3																	153840493		1850	4097	5947	SO:0001583	missense	26084	exon2			AGTACAAACAGCC	BC016628	CCDS46938.1, CCDS58858.1	3q25.2	2013-01-10			ENSG00000114790	ENSG00000114790		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	24490	protein-coding gene	gene with protein product	"""Src homology 3 domain-containing guanine nucleotide exchange factor"""					15133129, 12697679	Standard	NM_015595		Approved	DKFZP434D146, SGEF	uc021xgc.1	Q96DR7	OTTHUMG00000159098	ENST00000356448.4:c.712A>G	chr3.hg19:g.153840493A>G	ENSP00000348828:p.Asn238Asp	64.0	0.0		56.0	4.0	NM_001251962	B3KVP8|E9PBD0|Q68CL1|Q6AZ96|Q6Q8Q8|Q96AW8|Q96DR6|Q9H9D7|Q9H9R2|Q9UFW5	Missense_Mutation	SNP	ENST00000356448.4	hg19	CCDS46938.1	.	.	.	.	.	.	.	.	.	.	A	17.76	3.469241	0.63625	.	.	ENSG00000114790	ENST00000356448;ENST00000465093;ENST00000465817	T;T;T	0.56611	0.45;0.45;2.27	5.04	2.43	0.29744	.	0.325138	0.36167	N	0.002760	T	0.31949	0.0813	L	0.27053	0.805	0.32654	N	0.51905	P;P	0.43094	0.682;0.799	B;B	0.35413	0.202;0.202	T	0.40776	-0.9545	10	0.12766	T	0.61	-23.0438	12.0788	0.53659	0.5934:0.4066:0.0:0.0	.	238;238	E9PBD0;Q96DR7	.;ARHGQ_HUMAN	D	238	ENSP00000348828:N238D;ENSP00000423418:N238D;ENSP00000423295:N238D	ENSP00000348828:N238D	N	+	1	0	ARHGEF26	155323183	0.004000	0.15560	0.966000	0.40874	0.942000	0.58702	0.098000	0.15189	0.712000	0.32039	0.533000	0.62120	AAC	.	.		0.512	ARHGEF26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353287.3	NM_015595	
PLCH1	23007	hgsc.bcm.edu	37	3	155200108	155200108	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr3:155200108T>C	ENST00000340059.7	-	23	3730	c.3731A>G	c.(3730-3732)aAg>aGg	p.K1244R	PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000460012.1_Missense_Mutation_p.K1206R|PLCH1_ENST00000414191.1_Missense_Mutation_p.K1206R|PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000334686.6_Missense_Mutation_p.K1206R	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1244					inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GGATTTTCCCTTGCAAAAACC	0.463																																					p.K1244R		Atlas-SNP	.											.	PLCH1	406	.	0			c.A3731G						.						87.0	83.0	84.0					3																	155200108		2203	4300	6503	SO:0001583	missense	23007	exon23			TTTCCCTTGCAAA	AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.3731A>G	chr3.hg19:g.155200108T>C	ENSP00000345988:p.Lys1244Arg	127.0	0.0		83.0	4.0	NM_001130960	Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Missense_Mutation	SNP	ENST00000340059.7	hg19	CCDS46939.1	.	.	.	.	.	.	.	.	.	.	T	10.39	1.337484	0.24253	.	.	ENSG00000114805	ENST00000460012;ENST00000340059;ENST00000334686;ENST00000414191	T;T;T;T	0.23147	1.92;1.93;1.92;1.92	5.19	-2.05	0.07321	.	8.168240	0.00166	N	0.000000	T	0.13415	0.0325	N	0.14661	0.345	0.09310	N	1	B;B	0.24823	0.078;0.112	B;B	0.21708	0.036;0.016	T	0.08249	-1.0731	10	0.21540	T	0.41	.	2.8848	0.05658	0.0926:0.1611:0.3122:0.4341	.	1206;1244	Q4KWH8-2;Q4KWH8	.;PLCH1_HUMAN	R	1206;1244;1206;1206	ENSP00000417502:K1206R;ENSP00000345988:K1244R;ENSP00000335469:K1206R;ENSP00000412977:K1206R	ENSP00000335469:K1206R	K	-	2	0	PLCH1	156682802	0.000000	0.05858	0.002000	0.10522	0.123000	0.20343	-0.170000	0.09897	-0.687000	0.05162	0.377000	0.23210	AAG	.	.		0.463	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996	
CCNL1	57018	hgsc.bcm.edu	37	3	156877742	156877742	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr3:156877742A>G	ENST00000295926.3	-	1	260	c.142T>C	c.(142-144)Tcg>Ccg	p.S48P	CCNL1_ENST00000461804.1_Missense_Mutation_p.S48P|CCNL1_ENST00000295925.4_Missense_Mutation_p.S48P	NM_020307.2	NP_064703.1	Q9UK58	CCNL1_HUMAN	cyclin L1	48					regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	nuclear speck (GO:0016607)|nucleus (GO:0005634)				NS(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)	18			LUSC - Lung squamous cell carcinoma(72;0.0295)|Lung(72;0.0308)			GAAACTTCCGAGTACAGGCGA	0.657																																					p.S48P		Atlas-SNP	.											.	CCNL1	53	.	0			c.T142C						.						34.0	30.0	31.0					3																	156877742		2203	4300	6503	SO:0001583	missense	57018	exon1			CTTCCGAGTACAG	AF180920	CCDS3178.1	3q25.31	2008-02-05			ENSG00000163660	ENSG00000163660			20569	protein-coding gene	gene with protein product		613384				11980906	Standard	NM_020307		Approved	ania-6a	uc003fbf.3	Q9UK58	OTTHUMG00000158713	ENST00000295926.3:c.142T>C	chr3.hg19:g.156877742A>G	ENSP00000295926:p.Ser48Pro	230.0	0.0		163.0	7.0	NM_020307	B3KMY3|Q6NVY9|Q6UWS7|Q8NI48|Q96QT0|Q9NZF3	Missense_Mutation	SNP	ENST00000295926.3	hg19	CCDS3178.1	.	.	.	.	.	.	.	.	.	.	A	15.53	2.861255	0.51482	.	.	ENSG00000163660	ENST00000461804;ENST00000295926;ENST00000295925	T;T;T	0.50277	1.75;1.74;0.75	4.95	3.79	0.43588	.	0.064498	0.64402	D	0.000006	T	0.53948	0.1828	L	0.55213	1.73	0.53688	D	0.999972	D;P	0.58268	0.982;0.955	P;P	0.58520	0.84;0.616	T	0.53774	-0.8391	10	0.62326	D	0.03	-5.7492	6.5824	0.22602	0.7842:0.0:0.0785:0.1373	.	48;48	Q9UK58;C9JPL0	CCNL1_HUMAN;.	P	48	ENSP00000420277:S48P;ENSP00000295926:S48P;ENSP00000295925:S48P	ENSP00000295925:S48P	S	-	1	0	CCNL1	158360436	1.000000	0.71417	0.990000	0.47175	0.071000	0.16799	6.201000	0.72124	0.832000	0.34804	0.528000	0.53228	TCG	.	.		0.657	CCNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351859.1	NM_020307	
TRIM59	286827	hgsc.bcm.edu	37	3	160156325	160156325	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr3:160156325T>C	ENST00000309784.4	-	3	832	c.647A>G	c.(646-648)cAa>cGa	p.Q216R	RP11-432B6.3_ENST00000483754.1_Missense_Mutation_p.Q216R|TRIM59_ENST00000543469.1_Missense_Mutation_p.Q216R	NM_173084.2	NP_775107.1	Q8IWR1	TRI59_HUMAN	tripartite motif containing 59	216					innate immune response (GO:0045087)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of viral entry into host cell (GO:0046597)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(3)	15			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			AGTATATTCTTGATTAATTAG	0.343																																					p.Q216R		Atlas-SNP	.											.	TRIM59	42	.	0			c.A647G						.						76.0	80.0	79.0					3																	160156325		2201	4297	6498	SO:0001583	missense	286827	exon3			TATTCTTGATTAA	AY159379	CCDS3190.1	3q26	2013-01-09	2011-01-25		ENSG00000213186	ENSG00000213186		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	30834	protein-coding gene	gene with protein product			"""tripartite motif-containing 57"", ""tripartite motif-containing 59"""	TRIM57		12095697	Standard	NM_173084		Approved	TSBF1, Mrf1, RNF104	uc003fdm.3	Q8IWR1	OTTHUMG00000159034	ENST00000309784.4:c.647A>G	chr3.hg19:g.160156325T>C	ENSP00000311219:p.Gln216Arg	212.0	0.0		122.0	5.0	NM_173084	A8K5G9|D3DNL9	Missense_Mutation	SNP	ENST00000309784.4	hg19	CCDS3190.1	.	.	.	.	.	.	.	.	.	.	T	11.79	1.742840	0.30865	.	.	ENSG00000213186	ENST00000543469;ENST00000309784	T;T	0.25912	1.98;1.77	5.77	3.41	0.39046	.	0.357214	0.29383	N	0.012318	T	0.14313	0.0346	L	0.33485	1.01	0.24928	N	0.991932	B	0.19583	0.037	B	0.11329	0.006	T	0.15065	-1.0450	9	.	.	.	-15.8028	1.8898	0.03246	0.1373:0.1363:0.1435:0.5829	.	216	Q8IWR1	TRI59_HUMAN	R	216	ENSP00000444313:Q216R;ENSP00000311219:Q216R	.	Q	-	2	0	TRIM59	161639019	0.836000	0.29430	1.000000	0.80357	0.977000	0.68977	2.454000	0.44979	0.999000	0.39023	0.459000	0.35465	CAA	.	.		0.343	TRIM59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352963.1	NM_173084	
SLC2A2	6514	hgsc.bcm.edu	37	3	170732421	170732421	+	Missense_Mutation	SNP	T	T	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr3:170732421T>G	ENST00000314251.3	-	3	287	c.208A>C	c.(208-210)Atc>Ctc	p.I70L	SLC2A2_ENST00000382808.4_Intron	NM_000340.1	NP_000331.1	P11168	GTR2_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 2	70					carbohydrate metabolic process (GO:0005975)|endocrine pancreas development (GO:0031018)|energy reserve metabolic process (GO:0006112)|glucose transport (GO:0015758)|hexose transmembrane transport (GO:0035428)|hexose transport (GO:0008645)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	brush border (GO:0005903)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	D-glucose transmembrane transporter activity (GO:0055056)|dehydroascorbic acid transporter activity (GO:0033300)|glucose transmembrane transporter activity (GO:0005355)|hexose transmembrane transporter activity (GO:0015149)			central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)		Streptozocin(DB00428)	GAGTATGAGATTGTGGGCAGT	0.448																																					p.I70L		Atlas-SNP	.											.	SLC2A2	71	.	0			c.A208C						.						221.0	213.0	216.0					3																	170732421		2203	4300	6503	SO:0001583	missense	6514	exon3			ATGAGATTGTGGG	J03810	CCDS3215.1	3q26.2-q27	2013-05-22			ENSG00000163581	ENSG00000163581		"""Solute carriers"""	11006	protein-coding gene	gene with protein product		138160		GLUT2		1852621	Standard	NM_000340		Approved		uc003fhe.1	P11168	OTTHUMG00000158997	ENST00000314251.3:c.208A>C	chr3.hg19:g.170732421T>G	ENSP00000323568:p.Ile70Leu	698.0	0.0		481.0	135.0	NM_000340	A8K481|B2R936|B7Z547|F8W8V8|Q9UCW9	Missense_Mutation	SNP	ENST00000314251.3	hg19	CCDS3215.1	.	.	.	.	.	.	.	.	.	.	T	3.919	-0.018568	0.07681	.	.	ENSG00000163581	ENST00000314251	D	0.82433	-1.61	5.75	-11.5	0.00074	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	16.683300	0.00166	N	0.000001	T	0.58163	0.2103	N	0.05124	-0.11	0.09310	N	1	B	0.14805	0.011	B	0.14023	0.01	T	0.51252	-0.8729	10	0.10111	T	0.7	.	7.8498	0.29448	0.1769:0.5803:0.0838:0.1591	.	70	P11168	GTR2_HUMAN	L	70	ENSP00000323568:I70L	ENSP00000323568:I70L	I	-	1	0	SLC2A2	172215115	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-5.293000	0.00134	-2.782000	0.00360	-0.438000	0.05819	ATC	.	.		0.448	SLC2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352834.1	NM_000340	
CHRD	8646	hgsc.bcm.edu	37	3	184104453	184104453	+	Silent	SNP	C	C	T	rs35772744		TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr3:184104453C>T	ENST00000204604.1	+	16	2352	c.2106C>T	c.(2104-2106)ccC>ccT	p.P702P	CHRD_ENST00000348986.3_Silent_p.P662P|CHRD_ENST00000450923.1_Silent_p.P702P|CHRD_ENST00000545352.1_Intron|EIF2B5_ENST00000444495.1_Intron	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	702					BMP signaling pathway involved in spinal cord dorsal/ventral patterning (GO:0021919)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|gastrulation with mouth forming second (GO:0001702)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell migration (GO:0030336)|negative regulation of osteoblast differentiation (GO:0045668)|osteoblast differentiation (GO:0001649)|positive regulation of cell adhesion (GO:0045785)|positive regulation of mesenchymal cell proliferation (GO:0002053)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)	cytokine binding (GO:0019955)|heparin binding (GO:0008201)			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CCCGAGACCCCAACACATGCT	0.706																																					p.P702P		Atlas-SNP	.											CHRD_ENST00000342610,lower_third,carcinoma,0,2	CHRD	149	.	0			c.C2106T						.						11.0	13.0	12.0					3																	184104453		2138	4212	6350	SO:0001819	synonymous_variant	8646	exon16			AGACCCCAACACA	AF076612	CCDS3266.1	3q27	2008-07-18			ENSG00000090539	ENSG00000090539			1949	protein-coding gene	gene with protein product		603475				9782094, 11472837	Standard	NM_003741		Approved		uc003fov.3	Q9H2X0	OTTHUMG00000141267	ENST00000204604.1:c.2106C>T	chr3.hg19:g.184104453C>T		75.0	0.0		49.0	2.0	NM_003741	O95254|Q2M1I8|Q6UW83|Q9H2D3|Q9H2W8|Q9H2W9|Q9P0Z2|Q9P0Z3|Q9P0Z4|Q9P0Z5	Silent	SNP	ENST00000204604.1	hg19	CCDS3266.1																																																																																			.	.		0.706	CHRD-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280432.1	NM_003741	
DGKG	1608	hgsc.bcm.edu	37	3	185970912	185970912	+	Missense_Mutation	SNP	C	C	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr3:185970912C>T	ENST00000265022.3	-	18	2109	c.1570G>A	c.(1570-1572)Gac>Aac	p.D524N	DGKG_ENST00000544847.1_Missense_Mutation_p.D465N|DGKG_ENST00000382164.4_Missense_Mutation_p.D485N|DGKG_ENST00000344484.4_Missense_Mutation_p.D499N	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	524	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|neuron development (GO:0048666)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	CGGGCAAGGTCATTTCCTGTT	0.522																																					p.D524N		Atlas-SNP	.											.	DGKG	98	.	0			c.G1570A						.						173.0	133.0	147.0					3																	185970912		2203	4300	6503	SO:0001583	missense	1608	exon18			CAAGGTCATTTCC	AF020945	CCDS3274.1, CCDS43181.1, CCDS43182.1	3q27-q28	2013-01-10	2002-08-29		ENSG00000058866	ENSG00000058866	2.7.1.107	"""EF-hand domain containing"""	2853	protein-coding gene	gene with protein product		601854	"""diacylglycerol kinase, gamma (90kD)"""	DAGK3		8034597	Standard	NM_001080744		Approved		uc003fqa.3	P49619	OTTHUMG00000156617	ENST00000265022.3:c.1570G>A	chr3.hg19:g.185970912C>T	ENSP00000265022:p.Asp524Asn	111.0	0.0		69.0	7.0	NM_001346	B2RAH4|Q2M1H4|Q5FWG1	Missense_Mutation	SNP	ENST00000265022.3	hg19	CCDS3274.1	.	.	.	.	.	.	.	.	.	.	C	35	5.469173	0.96274	.	.	ENSG00000058866	ENST00000265022;ENST00000344484;ENST00000382164;ENST00000544847;ENST00000538691	T;T;T;T	0.53423	0.62;0.64;0.62;0.62	4.97	4.97	0.65823	Diacylglycerol kinase, catalytic domain (3);	0.000000	0.85682	D	0.000000	T	0.73473	0.3591	M	0.86651	2.83	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;1.0	T	0.78437	-0.2204	10	0.87932	D	0	.	17.5152	0.87771	0.0:1.0:0.0:0.0	.	465;499;485;524	F5GX27;P49619-2;P49619-3;P49619	.;.;.;DGKG_HUMAN	N	524;499;485;465;488	ENSP00000265022:D524N;ENSP00000339777:D499N;ENSP00000371599:D485N;ENSP00000440507:D465N	ENSP00000265022:D524N	D	-	1	0	DGKG	187453606	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.503000	0.81632	2.742000	0.94016	0.655000	0.94253	GAC	.	.		0.522	DGKG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344800.3		
TBCCD1	55171	hgsc.bcm.edu	37	3	186272247	186272247	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr3:186272247A>G	ENST00000424280.1	-	6	1819	c.1340T>C	c.(1339-1341)gTt>gCt	p.V447A	TBCCD1_ENST00000479590.1_5'UTR|TBCCD1_ENST00000446782.1_Missense_Mutation_p.V351A|TBCCD1_ENST00000338733.5_Missense_Mutation_p.V447A	NM_001134415.1	NP_001127887.1	Q9NVR7	TBCC1_HUMAN	TBCC domain containing 1	447					cell morphogenesis (GO:0000902)|cytoskeleton organization (GO:0007010)|maintenance of centrosome location (GO:0051661)|maintenance of Golgi location (GO:0051684)|regulation of cell migration (GO:0030334)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|spindle pole centrosome (GO:0031616)				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|skin(1)	17	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.3e-21)	GBM - Glioblastoma multiforme(93;0.0474)		TCTGCACACAACCATTGGATT	0.433																																					p.V447A		Atlas-SNP	.											.	TBCCD1	42	.	0			c.T1340C						.						107.0	105.0	106.0					3																	186272247		2203	4300	6503	SO:0001583	missense	55171	exon6			CACACAACCATTG	BC025748	CCDS3276.1, CCDS75061.1	3q27.3	2006-03-09			ENSG00000113838	ENSG00000113838			25546	protein-coding gene	gene with protein product						12477932	Standard	NM_001134415		Approved	FLJ10560	uc003fqg.3	Q9NVR7	OTTHUMG00000156613	ENST00000424280.1:c.1340T>C	chr3.hg19:g.186272247A>G	ENSP00000411253:p.Val447Ala	159.0	0.0		98.0	4.0	NM_001134415	B3KW69|D3DNU6|G5E9J4	Missense_Mutation	SNP	ENST00000424280.1	hg19	CCDS3276.1	.	.	.	.	.	.	.	.	.	.	A	11.53	1.666953	0.29604	.	.	ENSG00000113838	ENST00000424280;ENST00000338733;ENST00000446782	D;D;D	0.83837	-1.76;-1.76;-1.77	5.81	4.67	0.58626	.	0.419604	0.26210	N	0.025685	T	0.69187	0.3083	N	0.25647	0.755	0.29254	N	0.871812	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.002	T	0.55909	-0.8066	10	0.12430	T	0.62	-4.8466	9.409	0.38480	0.9174:0.0:0.0826:0.0	.	351;447	G5E9J4;Q9NVR7	.;TBCC1_HUMAN	A	447;447;351	ENSP00000411253:V447A;ENSP00000341652:V447A;ENSP00000397091:V351A	ENSP00000341652:V447A	V	-	2	0	TBCCD1	187754941	0.998000	0.40836	0.773000	0.31616	0.923000	0.55619	5.834000	0.69361	2.230000	0.72887	0.451000	0.29950	GTT	.	.		0.433	TBCCD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344774.1	NM_018138	
APOD	347	hgsc.bcm.edu	37	3	195306237	195306237	+	Silent	SNP	C	C	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr3:195306237C>A	ENST00000343267.3	-	2	457	c.96G>T	c.(94-96)ccG>ccT	p.P32P		NM_001647.3	NP_001638.1	P05090	APOD_HUMAN	apolipoprotein D	32					aging (GO:0007568)|angiogenesis (GO:0001525)|brain development (GO:0007420)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|negative regulation of cytokine production involved in inflammatory response (GO:1900016)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of lipoprotein lipid oxidation (GO:0060588)|negative regulation of monocyte chemotactic protein-1 production (GO:0071638)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein import into nucleus (GO:0042308)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of smooth muscle cell-matrix adhesion (GO:2000098)|negative regulation of T cell migration (GO:2000405)|peripheral nervous system axon regeneration (GO:0014012)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to reactive oxygen species (GO:0000302)|tissue regeneration (GO:0042246)	cytosolic ribosome (GO:0022626)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)	cholesterol binding (GO:0015485)|lipid transporter activity (GO:0005319)			breast(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		TCTCCTGCACCGGAGGATTGG	0.512																																					p.P32P		Atlas-SNP	.											.	APOD	28	.	0			c.G96T						.						120.0	124.0	123.0					3																	195306237		2203	4300	6503	SO:0001819	synonymous_variant	347	exon2			CTGCACCGGAGGA		CCDS33925.1	3q29	2013-09-19			ENSG00000189058	ENSG00000189058		"""Lipocalins"", ""Apolipoproteins"""	612	protein-coding gene	gene with protein product		107740				2439269, 3453108	Standard	NM_001647		Approved		uc003fur.2	P05090	OTTHUMG00000155854	ENST00000343267.3:c.96G>T	chr3.hg19:g.195306237C>A		89.0	0.0		45.0	4.0	NM_001647	B2R579|D3DNW6|Q6IBG6	Silent	SNP	ENST00000343267.3	hg19	CCDS33925.1																																																																																			.	.		0.512	APOD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342004.1	NM_001647	
MUC20	200958	hgsc.bcm.edu	37	3	195453275	195453275	+	Missense_Mutation	SNP	C	C	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr3:195453275C>A	ENST00000447234.2	+	2	1927	c.1801C>A	c.(1801-1803)Ccc>Acc	p.P601T	MUC20_ENST00000320736.6_Missense_Mutation_p.P430T|MUC20_ENST00000436408.1_Missense_Mutation_p.P601T|MUC20_ENST00000445522.2_Missense_Mutation_p.P566T	NM_001282506.1	NP_001269435.1	Q8N307	MUC20_HUMAN	mucin 20, cell surface associated	601	Involved in oligomerization.|Thr-rich.				activation of MAPK activity (GO:0000187)|cellular protein metabolic process (GO:0044267)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein homooligomerization (GO:0051260)	basal plasma membrane (GO:0009925)|cell projection (GO:0042995)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)	23	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		GGGGCCCTTCCCCACCAGCAG	0.597																																					p.P430T		Atlas-SNP	.											.	MUC20	84	.	0			c.C1288A						.						62.0	63.0	63.0					3																	195453275		2081	4200	6281	SO:0001583	missense	200958	exon3			CCCTTCCCCACCA	AB037780	CCDS63877.1	3q29	2008-08-07	2006-03-14		ENSG00000176945	ENSG00000176945		"""Mucins"""	23282	protein-coding gene	gene with protein product		610360				14565953	Standard	NM_001282506		Approved	FLJ14408, KIAA1359	uc010hzo.3	Q8N307	OTTHUMG00000155823	ENST00000447234.2:c.1801C>A	chr3.hg19:g.195453275C>A	ENSP00000414350:p.Pro601Thr	118.0	0.0		86.0	4.0	NM_152673	Q6UX97|Q76I83|Q76I85|Q86ST8|Q8NBY6|Q96KA1|Q9P2I8	Missense_Mutation	SNP	ENST00000447234.2	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.79|15.79	2.935910|2.935910	0.52972|0.52972	.|.	.|.	ENSG00000176945|ENSG00000176945	ENST00000423938|ENST00000381954;ENST00000447234;ENST00000320736;ENST00000436408;ENST00000445522	.|T;T;T;T	.|0.15372	.|2.86;2.89;3.03;2.43	4.59|4.59	4.59|4.59	0.56863|0.56863	.|.	0.489229|0.489229	0.17483|0.17483	N|N	0.172642|0.172642	T|T	0.30103|0.30103	0.0754|0.0754	L|L	0.36672|0.36672	1.1|1.1	0.09310|0.09310	N|N	1|1	.|D	.|0.71674	.|0.998	.|D	.|0.71656	.|0.974	T|T	0.03840|0.03840	-1.0999|-1.0999	6|10	.|0.46703	.|T	.|0.11	-7.577|-7.577	13.0954|13.0954	0.59188|0.59188	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|430	.|E9PH32	.|.	H|T	12|412;601;430;601;566	.|ENSP00000414350:P601T;ENSP00000325431:P430T;ENSP00000396774:P601T;ENSP00000405629:P566T	.|ENSP00000325431:P430T	P|P	+|+	2|1	0|0	MUC20|MUC20	196938946|196938946	0.000000|0.000000	0.05858|0.05858	0.081000|0.081000	0.20488|0.20488	0.019000|0.019000	0.09904|0.09904	0.014000|0.014000	0.13333|0.13333	2.541000|2.541000	0.85698|0.85698	0.563000|0.563000	0.77884|0.77884	CCC|CCC	.	.		0.597	MUC20-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000341835.1	NM_152673	
SLC26A1	10861	hgsc.bcm.edu	37	4	983570	983570	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr4:983570A>G	ENST00000361661.2	-	4	1534	c.1157T>C	c.(1156-1158)cTa>cCa	p.L386P	SLC26A1_ENST00000513138.1_5'Flank|IDUA_ENST00000453894.1_Intron|IDUA_ENST00000247933.4_Intron|SLC26A1_ENST00000398520.2_Intron|SLC26A1_ENST00000398516.2_Missense_Mutation_p.L386P	NM_213613.2	NP_998778.1	Q9H2B4	S26A1_HUMAN	solute carrier family 26 (anion exchanger), member 1	386					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|chloride transport (GO:0006821)|glycosaminoglycan metabolic process (GO:0030203)|ion transport (GO:0006811)|oxalate transport (GO:0019532)|small molecule metabolic process (GO:0044281)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	anion:anion antiporter activity (GO:0015301)|chloride transmembrane transporter activity (GO:0015108)|oxalate transmembrane transporter activity (GO:0019531)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			central_nervous_system(1)|endometrium(4)|pancreas(1)|prostate(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GAAGGCGGGTAGCACGTTGCA	0.667																																					p.L386P		Atlas-SNP	.											.	SLC26A1	44	.	0			c.T1157C						.						10.0	11.0	11.0					4																	983570		2143	4251	6394	SO:0001583	missense	10861	exon3			GCGGGTAGCACGT	AF297659	CCDS33933.1, CCDS33934.1	4p16.3	2013-07-18	2013-07-18		ENSG00000145217	ENSG00000145217		"""Solute carriers"""	10993	protein-coding gene	gene with protein product		610130	"""solute carrier family 26 (sulfate transporter), member 1"""				Standard	NM_213613		Approved	SAT-1, EDM4	uc003gcc.3	Q9H2B4	OTTHUMG00000160003	ENST00000361661.2:c.1157T>C	chr4.hg19:g.983570A>G	ENSP00000354721:p.Leu386Pro	129.0	0.0		111.0	5.0	NM_022042	A8K9N2|Q7Z5R3|Q96BK0	Missense_Mutation	SNP	ENST00000361661.2	hg19	CCDS33934.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.074494	0.76415	.	.	ENSG00000145217	ENST00000361661;ENST00000398516	D;D	0.94417	-3.42;-3.42	5.14	5.14	0.70334	Sulphate transporter (1);	0.168858	0.50627	D	0.000102	D	0.96321	0.8800	M	0.71206	2.165	0.80722	D	1	D	0.60160	0.987	D	0.65323	0.934	D	0.96671	0.9496	10	0.87932	D	0	.	12.8891	0.58061	1.0:0.0:0.0:0.0	.	386	Q9H2B4	S26A1_HUMAN	P	386	ENSP00000354721:L386P;ENSP00000381528:L386P	ENSP00000354721:L386P	L	-	2	0	SLC26A1	973570	1.000000	0.71417	0.996000	0.52242	0.820000	0.46376	7.248000	0.78268	1.929000	0.55896	0.454000	0.30748	CTA	.	.		0.667	SLC26A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358783.1	NM_022042, NM_134425	
SLC26A1	10861	hgsc.bcm.edu	37	4	983816	983816	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr4:983816A>G	ENST00000361661.2	-	4	1288	c.911T>C	c.(910-912)cTc>cCc	p.L304P	SLC26A1_ENST00000513138.1_5'Flank|IDUA_ENST00000453894.1_Intron|IDUA_ENST00000247933.4_Intron|SLC26A1_ENST00000398520.2_Intron|SLC26A1_ENST00000398516.2_Missense_Mutation_p.L304P	NM_213613.2	NP_998778.1	Q9H2B4	S26A1_HUMAN	solute carrier family 26 (anion exchanger), member 1	304					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|chloride transport (GO:0006821)|glycosaminoglycan metabolic process (GO:0030203)|ion transport (GO:0006811)|oxalate transport (GO:0019532)|small molecule metabolic process (GO:0044281)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	anion:anion antiporter activity (GO:0015301)|chloride transmembrane transporter activity (GO:0015108)|oxalate transmembrane transporter activity (GO:0019531)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			central_nervous_system(1)|endometrium(4)|pancreas(1)|prostate(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GTGCGACACGAGTGTGGCCAC	0.677																																					p.L304P		Atlas-SNP	.											.	SLC26A1	44	.	0			c.T911C						.						31.0	24.0	26.0					4																	983816		2176	4290	6466	SO:0001583	missense	10861	exon3			GACACGAGTGTGG	AF297659	CCDS33933.1, CCDS33934.1	4p16.3	2013-07-18	2013-07-18		ENSG00000145217	ENSG00000145217		"""Solute carriers"""	10993	protein-coding gene	gene with protein product		610130	"""solute carrier family 26 (sulfate transporter), member 1"""				Standard	NM_213613		Approved	SAT-1, EDM4	uc003gcc.3	Q9H2B4	OTTHUMG00000160003	ENST00000361661.2:c.911T>C	chr4.hg19:g.983816A>G	ENSP00000354721:p.Leu304Pro	78.0	0.0		72.0	5.0	NM_022042	A8K9N2|Q7Z5R3|Q96BK0	Missense_Mutation	SNP	ENST00000361661.2	hg19	CCDS33934.1	.	.	.	.	.	.	.	.	.	.	A	12.10	1.835265	0.32421	.	.	ENSG00000145217	ENST00000361661;ENST00000398516	D;D	0.94232	-3.38;-3.38	4.97	3.78	0.43462	Sulphate transporter (1);	0.452720	0.24052	N	0.041997	D	0.96586	0.8886	M	0.89785	3.06	0.58432	D	0.999993	D	0.89917	1.0	D	0.78314	0.991	D	0.95522	0.8595	10	0.59425	D	0.04	.	8.8046	0.34929	0.9091:0.0:0.0909:0.0	.	304	Q9H2B4	S26A1_HUMAN	P	304	ENSP00000354721:L304P;ENSP00000381528:L304P	ENSP00000354721:L304P	L	-	2	0	SLC26A1	973816	0.994000	0.37717	0.001000	0.08648	0.096000	0.18686	7.363000	0.79516	0.746000	0.32786	-0.379000	0.06801	CTC	.	.		0.677	SLC26A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358783.1	NM_022042, NM_134425	
TNIP2	79155	hgsc.bcm.edu	37	4	2749527	2749527	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr4:2749527T>C	ENST00000315423.7	-	2	508	c.422A>G	c.(421-423)gAc>gGc	p.D141G	TNIP2_ENST00000503235.1_Missense_Mutation_p.D141G|TNIP2_ENST00000505186.1_5'Flank|TNIP2_ENST00000510267.1_Missense_Mutation_p.D34G	NM_024309.3	NP_077285.3			TNFAIP3 interacting protein 2											breast(2)|central_nervous_system(1)|large_intestine(4)|lung(6)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GCACAGGACGTCACTGGCGGC	0.647																																					p.D141G		Atlas-SNP	.											.	TNIP2	28	.	0			c.A422G						.						109.0	105.0	106.0					4																	2749527		2203	4300	6503	SO:0001583	missense	79155	exon2			AGGACGTCACTGG	BC002740	CCDS3362.1, CCDS54714.1, CCDS75093.1	4p16.3	2008-08-01			ENSG00000168884	ENSG00000168884			19118	protein-coding gene	gene with protein product		610669				11390377, 12933576	Standard	NM_024309		Approved	ABIN-2, MGC4289, KLIP, FLIP1	uc003gfg.2	Q8NFZ5	OTTHUMG00000090267	ENST00000315423.7:c.422A>G	chr4.hg19:g.2749527T>C	ENSP00000321203:p.Asp141Gly	111.0	0.0		87.0	4.0	NM_024309		Missense_Mutation	SNP	ENST00000315423.7	hg19	CCDS3362.1	.	.	.	.	.	.	.	.	.	.	t	10.51	1.371386	0.24771	.	.	ENSG00000168884	ENST00000510267;ENST00000315423;ENST00000503235	T;T;T	0.49432	0.79;0.78;0.78	3.81	1.14	0.20703	.	0.650910	0.15128	N	0.279011	T	0.41488	0.1161	M	0.66939	2.045	0.09310	N	1	B;B	0.25169	0.119;0.118	B;B	0.26770	0.041;0.073	T	0.31586	-0.9938	10	0.33940	T	0.23	-9.8926	6.2697	0.20947	0.1592:0.0:0.1662:0.6746	.	141;141	D6RGJ2;Q8NFZ5	.;TNIP2_HUMAN	G	34;141;141	ENSP00000427613:D34G;ENSP00000321203:D141G;ENSP00000426314:D141G	ENSP00000321203:D141G	D	-	2	0	TNIP2	2719325	0.000000	0.05858	0.000000	0.03702	0.670000	0.39368	0.799000	0.27028	0.136000	0.18733	0.449000	0.29647	GAC	.	.		0.647	TNIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206589.5	NM_024309	
JAKMIP1	152789	hgsc.bcm.edu	37	4	6087245	6087245	+	Missense_Mutation	SNP	G	G	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr4:6087245G>T	ENST00000282924.5	-	4	1221	c.736C>A	c.(736-738)Cag>Aag	p.Q246K	JAKMIP1_ENST00000409021.3_Missense_Mutation_p.Q246K|JAKMIP1_ENST00000457227.2_5'UTR|JAKMIP1_ENST00000409371.3_Missense_Mutation_p.Q81K|JAKMIP1_ENST00000410077.2_Missense_Mutation_p.Q81K|JAKMIP1_ENST00000409831.1_Missense_Mutation_p.Q246K	NM_144720.3	NP_653321.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	246	Mediates association with microtubules.				cognition (GO:0050890)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|microtubule (GO:0005874)|ribonucleoprotein complex (GO:0030529)	GABA receptor binding (GO:0050811)|RNA binding (GO:0003723)			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TGAACCAGCTGCTCATCCAAA	0.597																																					p.Q246K		Atlas-SNP	.											.	JAKMIP1	250	.	0			c.C736A						.						107.0	109.0	108.0					4																	6087245		2203	4300	6503	SO:0001583	missense	152789	exon4			CCAGCTGCTCATC	AK056126	CCDS3385.1, CCDS47005.1	4p16.1	2013-10-11	2009-08-13		ENSG00000152969	ENSG00000152969			26460	protein-coding gene	gene with protein product		611195				18941173	Standard	NM_144720		Approved	MARLIN1, JAMIP1, Gababrbp, FLJ31564	uc010idb.1	Q96N16	OTTHUMG00000125491	ENST00000282924.5:c.736C>A	chr4.hg19:g.6087245G>T	ENSP00000282924:p.Gln246Lys	151.0	0.0		90.0	5.0	NM_001099433	A6H2J2|A6H2J3|A6H2J4|A6H2J5|A8MTK6|B4DHZ8|B8ZZR7|D3DVT0|Q86Y69|Q8N7G3	Missense_Mutation	SNP	ENST00000282924.5	hg19	CCDS3385.1	.	.	.	.	.	.	.	.	.	.	G	19.09	3.759914	0.69763	.	.	ENSG00000152969	ENST00000409021;ENST00000409371;ENST00000418227;ENST00000425341;ENST00000429819;ENST00000282924;ENST00000409831;ENST00000410077	T;T;T;T;T	0.35048	1.33;1.33;1.33;1.33;1.33	4.1	4.1	0.47936	.	0.251342	0.28883	N	0.013840	T	0.59972	0.2233	M	0.77313	2.365	0.46927	D	0.999257	P;P;P;P;P	0.52577	0.954;0.597;0.954;0.954;0.597	D;B;D;D;B	0.67900	0.932;0.26;0.954;0.932;0.167	T	0.64901	-0.6298	10	0.54805	T	0.06	.	15.5262	0.75910	0.0:0.0:1.0:0.0	.	81;246;81;246;246	B4DHZ8;F2Z2K5;Q96N16-5;Q96N16-2;Q96N16	.;.;.;.;JKIP1_HUMAN	K	246;81;246;246;138;246;246;81	ENSP00000386711:Q246K;ENSP00000387042:Q81K;ENSP00000282924:Q246K;ENSP00000386925:Q246K;ENSP00000386745:Q81K	ENSP00000282924:Q246K	Q	-	1	0	JAKMIP1	6138146	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	8.819000	0.91997	2.135000	0.66039	0.655000	0.94253	CAG	.	.		0.597	JAKMIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246816.2	NM_144720	
ACOX3	8310	hgsc.bcm.edu	37	4	8375349	8375349	+	Missense_Mutation	SNP	T	T	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr4:8375349T>A	ENST00000356406.5	-	16	1912	c.1835A>T	c.(1834-1836)tAc>tTc	p.Y612F	ACOX3_ENST00000515797.1_5'UTR|ACOX3_ENST00000413009.2_Intron|ACOX3_ENST00000503233.1_Missense_Mutation_p.Y612F	NM_003501.2	NP_003492.2	O15254	ACOX3_HUMAN	acyl-CoA oxidase 3, pristanoyl	612					cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|pristanoyl-CoA oxidase activity (GO:0016402)|receptor binding (GO:0005102)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						ACCGGAGAAGTATCCTCCTGC	0.582																																					p.Y612F		Atlas-SNP	.											.	ACOX3	70	.	0			c.A1835T						.						89.0	71.0	77.0					4																	8375349		2201	4300	6501	SO:0001583	missense	8310	exon16			GAGAAGTATCCTC	Y11411	CCDS3401.1, CCDS47017.1	4p15.3	2010-04-30	2010-04-30		ENSG00000087008	ENSG00000087008	1.3.3.6		121	protein-coding gene	gene with protein product		603402	"""acyl-Coenzyme A oxidase 3, pristanoyl"""			9271077	Standard	NM_003501		Approved		uc003glc.4	O15254	OTTHUMG00000090509	ENST00000356406.5:c.1835A>T	chr4.hg19:g.8375349T>A	ENSP00000348775:p.Tyr612Phe	123.0	0.0		84.0	4.0	NM_003501	Q96AJ8	Missense_Mutation	SNP	ENST00000356406.5	hg19	CCDS3401.1	.	.	.	.	.	.	.	.	.	.	T	12.89	2.073756	0.36566	.	.	ENSG00000087008	ENST00000356406;ENST00000503233	T;T	0.42513	0.97;0.97	4.29	4.29	0.51040	Acyl-CoA oxidase, C-terminal (1);Acyl-CoA dehydrogenase/oxidase C-terminal (2);	0.663464	0.14751	N	0.300556	T	0.45155	0.1328	M	0.63428	1.95	0.49299	D	0.999772	B	0.27316	0.175	B	0.37304	0.246	T	0.28490	-1.0042	10	0.22706	T	0.39	-10.2481	11.4611	0.50211	0.0:0.0:0.0:1.0	.	612	O15254	ACOX3_HUMAN	F	612	ENSP00000348775:Y612F;ENSP00000421625:Y612F	ENSP00000348775:Y612F	Y	-	2	0	ACOX3	8426249	1.000000	0.71417	1.000000	0.80357	0.283000	0.27025	4.153000	0.58118	1.820000	0.53075	0.454000	0.30748	TAC	.	.		0.582	ACOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206997.4		
HS3ST1	9957	hgsc.bcm.edu	37	4	11401109	11401109	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr4:11401109A>G	ENST00000002596.5	-	2	1695	c.521T>C	c.(520-522)aTc>aCc	p.I174T		NM_005114.2	NP_005105.1	O14792	HS3S1_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 1	174					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)|sulfotransferase activity (GO:0008146)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						GAACTCCTCGATGGACGGGTA	0.587																																					p.I174T		Atlas-SNP	.											.	HS3ST1	41	.	0			c.T521C						.						87.0	80.0	82.0					4																	11401109		2203	4300	6503	SO:0001583	missense	9957	exon2			TCCTCGATGGACG	AF019386	CCDS3408.1	4p16	2008-02-05			ENSG00000002587	ENSG00000002587	2.8.2.23	"""Sulfotransferases, membrane-bound"""	5194	protein-coding gene	gene with protein product		603244				9988767	Standard	NM_005114		Approved	3OST1	uc003gmq.3	O14792	OTTHUMG00000090547	ENST00000002596.5:c.521T>C	chr4.hg19:g.11401109A>G	ENSP00000002596:p.Ile174Thr	115.0	0.0		96.0	4.0	NM_005114	B3KUA6|Q6PEY8	Missense_Mutation	SNP	ENST00000002596.5	hg19	CCDS3408.1	.	.	.	.	.	.	.	.	.	.	A	19.05	3.751197	0.69533	.	.	ENSG00000002587	ENST00000002596	D	0.82619	-1.63	5.61	4.39	0.52855	Sulfotransferase domain (1);	0.273444	0.36444	N	0.002589	D	0.83917	0.5358	N	0.22421	0.69	0.47778	D	0.999512	P	0.46457	0.878	D	0.67382	0.951	D	0.84048	0.0368	10	0.54805	T	0.06	.	11.4662	0.50241	0.8653:0.0:0.0:0.1347	.	174	O14792	HS3S1_HUMAN	T	174	ENSP00000002596:I174T	ENSP00000002596:I174T	I	-	2	0	HS3ST1	11010207	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.469000	0.80959	1.016000	0.39470	0.533000	0.62120	ATC	.	.		0.587	HS3ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207073.3	NM_005114	
CC2D2A	57545	hgsc.bcm.edu	37	4	15572065	15572065	+	Silent	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr4:15572065A>G	ENST00000503292.1	+	29	3720	c.3540A>G	c.(3538-3540)agA>agG	p.R1180R	CC2D2A_ENST00000389652.5_Silent_p.R1131R|CC2D2A_ENST00000424120.1_Silent_p.R1180R|CC2D2A_ENST00000413206.1_Silent_p.R1180R	NM_001080522.2	NP_001073991.2	Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A	1180					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|TCTN-B9D complex (GO:0036038)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						GTATTGAGAGACACTGGCTGG	0.398																																					p.R1180R		Atlas-SNP	.											.	CC2D2A	158	.	0			c.A3540G						.						68.0	66.0	67.0					4																	15572065		1895	4122	6017	SO:0001819	synonymous_variant	57545	exon29			TGAGAGACACTGG	AB037766, EU450799	CCDS47026.1, CCDS47027.1, CCDS47027.2, CCDS54744.1	4p15.33	2014-09-17	2007-10-19		ENSG00000048342	ENSG00000048342			29253	protein-coding gene	gene with protein product	"""Meckel syndrome, type 6"""	612013				10718198, 18513680	Standard	NM_001080522		Approved	KIAA1345, MKS6, JBTS9	uc010idv.2	Q9P2K1	OTTHUMG00000160255	ENST00000503292.1:c.3540A>G	chr4.hg19:g.15572065A>G		194.0	0.0		99.0	4.0	NM_001080522	A6ND97|B3FW08|D6RB72|E7EP21|E9PEV5|Q3SYP3|Q9H8A7	Silent	SNP	ENST00000503292.1	hg19	CCDS47026.1																																																																																			.	.		0.398	CC2D2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359906.2	NM_001080522	
PCDH7	5099	hgsc.bcm.edu	37	4	30725244	30725244	+	Missense_Mutation	SNP	G	G	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr4:30725244G>T	ENST00000361762.2	+	1	3208	c.2200G>T	c.(2200-2202)Gat>Tat	p.D734Y	PCDH7_ENST00000543491.1_Missense_Mutation_p.D734Y	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	734	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						TTTTGTGATGGATGAAAATGA	0.473																																					p.D734Y		Atlas-SNP	.											.	PCDH7	215	.	0			c.G2200T						.						102.0	97.0	98.0					4																	30725244		2203	4300	6503	SO:0001583	missense	5099	exon1			GTGATGGATGAAA	AB006755	CCDS33971.1, CCDS75116.1	4p15	2014-06-13	2007-02-12			ENSG00000169851		"""Cadherins / Protocadherins : Non-clustered"""	8659	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 120"""	602988	"""BH-protocadherin (brain-heart)"""			9615233	Standard	NM_002589		Approved	BH-Pcdh, PPP1R120	uc021xnd.1	O60245		ENST00000361762.2:c.2200G>T	chr4.hg19:g.30725244G>T	ENSP00000355243:p.Asp734Tyr	238.0	0.0		141.0	35.0	NM_032457	O60246|O60247|Q4W5C4	Missense_Mutation	SNP	ENST00000361762.2	hg19	CCDS33971.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.22|17.22	3.334506|3.334506	0.60853|0.60853	.|.	.|.	ENSG00000169851|ENSG00000169851	ENST00000361762;ENST00000543491;ENST00000333135|ENST00000511884	T;T|.	0.67865|.	-0.29;-0.29|.	5.04|5.04	5.04|5.04	0.67666|0.67666	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);|.	.|.	.|.	.|.	.|.	D|D	0.91092|0.91092	0.7196|0.7196	H|H	0.98901|0.98901	4.365|4.365	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	1.0;1.0;0.999|.	D|D	0.94623|0.94623	0.7815|0.7815	9|5	0.87932|.	D|.	0|.	.|.	18.588|18.588	0.91197|0.91197	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	734;687;734|.	F5GWJ1;O60245-3;O60245|.	.;.;PCDH7_HUMAN|.	Y|V	734;734;687|423	ENSP00000355243:D734Y;ENSP00000441802:D734Y|.	ENSP00000330302:D687Y|.	D|G	+|+	1|2	0|0	PCDH7|PCDH7	30334342|30334342	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.652000|9.652000	0.98499|0.98499	2.612000|2.612000	0.88384|0.88384	0.655000|0.655000	0.94253|0.94253	GAT|GGA	.	.		0.473	PCDH7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360366.1	NM_032457, NM_002589	
PGM2	55276	hgsc.bcm.edu	37	4	37831602	37831602	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr4:37831602A>G	ENST00000381967.4	+	2	198	c.98A>G	c.(97-99)gAg>gGg	p.E33G	PGM2_ENST00000544359.1_5'UTR|PGM2_ENST00000537241.1_5'UTR	NM_018290.3	NP_060760.2	Q96G03	PGM2_HUMAN	phosphoglucomutase 2	33					carbohydrate metabolic process (GO:0005975)|deoxyribose phosphate catabolic process (GO:0046386)|galactose catabolic process (GO:0019388)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	magnesium ion binding (GO:0000287)|phosphoglucomutase activity (GO:0004614)|phosphopentomutase activity (GO:0008973)			breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						TTAACTTTGGAGGCAGTGAAA	0.378																																					p.E33G		Atlas-SNP	.											.	PGM2	45	.	0			c.A98G						.						56.0	60.0	58.0					4																	37831602		2203	4300	6503	SO:0001583	missense	55276	exon2			CTTTGGAGGCAGT	BC010087	CCDS3443.1	4p14	2012-10-02			ENSG00000169299	ENSG00000169299	5.4.2.2		8906	protein-coding gene	gene with protein product	"""phosphopentomutase"""	172000				9549096	Standard	NM_018290		Approved	FLJ10983	uc011byb.1	Q96G03	OTTHUMG00000097813	ENST00000381967.4:c.98A>G	chr4.hg19:g.37831602A>G	ENSP00000371393:p.Glu33Gly	161.0	0.0		124.0	5.0	NM_018290	B4E0G8|Q53FP5|Q5QTR0|Q9H0P9|Q9NV22	Missense_Mutation	SNP	ENST00000381967.4	hg19	CCDS3443.1	.	.	.	.	.	.	.	.	.	.	A	4.328	0.060248	0.08339	.	.	ENSG00000169299	ENST00000381967	T	0.53857	0.6	5.64	4.45	0.53987	.	0.481828	0.23129	N	0.051612	T	0.44030	0.1274	L	0.44542	1.39	0.19945	N	0.999946	B	0.02656	0.0	B	0.06405	0.002	T	0.27400	-1.0075	10	0.30078	T	0.28	-9.0177	12.2007	0.54323	0.6049:0.3951:0.0:0.0	.	33	Q96G03	PGM2_HUMAN	G	33	ENSP00000371393:E33G	ENSP00000371393:E33G	E	+	2	0	PGM2	37507997	0.964000	0.33143	0.024000	0.17045	0.125000	0.20455	2.517000	0.45529	0.945000	0.37605	0.528000	0.53228	GAG	.	.		0.378	PGM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215079.2	NM_018290	
KLB	152831	hgsc.bcm.edu	37	4	39435941	39435941	+	Missense_Mutation	SNP	A	A	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr4:39435941A>T	ENST00000257408.4	+	2	1034	c.937A>T	c.(937-939)Acg>Tcg	p.T313S		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	313	Glycosyl hydrolase-1 1.				carbohydrate metabolic process (GO:0005975)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fibroblast growth factor binding (GO:0017134)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						GTCGGAAAACACGATGGATAT	0.468																																					p.T313S		Atlas-SNP	.											.	KLB	95	.	0			c.A937T						.						122.0	106.0	111.0					4																	39435941		2203	4300	6503	SO:0001583	missense	152831	exon2			GAAAACACGATGG	AB079373	CCDS3451.1	4p14	2008-02-05			ENSG00000134962	ENSG00000134962			15527	protein-coding gene	gene with protein product		611135					Standard	NM_175737		Approved		uc003gua.3	Q86Z14	OTTHUMG00000128577	ENST00000257408.4:c.937A>T	chr4.hg19:g.39435941A>T	ENSP00000257408:p.Thr313Ser	317.0	0.0		197.0	55.0	NM_175737	Q2M3K8	Missense_Mutation	SNP	ENST00000257408.4	hg19	CCDS3451.1	.	.	.	.	.	.	.	.	.	.	A	0.147	-1.095797	0.01858	.	.	ENSG00000134962	ENST00000257408	T	0.30981	1.51	6.17	-3.31	0.04988	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.841312	0.11191	N	0.589895	T	0.13798	0.0334	N	0.16016	0.355	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.10450	0.005;0.005	T	0.37934	-0.9684	10	0.11485	T	0.65	0.1267	9.0259	0.36230	0.3913:0.1226:0.4862:0.0	.	313;313	B7ZL50;Q86Z14	.;KLOTB_HUMAN	S	313	ENSP00000257408:T313S	ENSP00000257408:T313S	T	+	1	0	KLB	39112336	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.460000	0.21924	-0.538000	0.06281	-0.274000	0.10170	ACG	.	.		0.468	KLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250429.1	NM_175737	
UGT2A1	10941	hgsc.bcm.edu	37	4	70504997	70504997	+	Intron	SNP	C	C	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr4:70504997C>T	ENST00000503640.1	-	1	771				UGT2A1_ENST00000286604.4_Intron|UGT2A1_ENST00000514019.1_Missense_Mutation_p.G322E|UGT2A1_ENST00000512704.1_Intron|UGT2A2_ENST00000457664.2_Missense_Mutation_p.G121E	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus						cellular glucuronidation (GO:0052695)|detection of chemical stimulus (GO:0009593)|metabolic process (GO:0008152)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						TAGAAGTTTTCCTAGTTCTTT	0.363																																					p.G322E		Atlas-SNP	.											.	UGT2A1	131	.	0			c.G965A						.						98.0	95.0	96.0					4																	70504997		1843	4081	5924	SO:0001627	intron_variant	10941	exon3			AGTTTTCCTAGTT	AJ006054	CCDS3529.1, CCDS58901.1, CCDS58902.1	4q13	2013-03-28	2010-12-02					"""UDP glucuronosyltransferases"""	12542	protein-coding gene	gene with protein product		604716	"""UDP glycosyltransferase 2 family, polypeptide A1"", ""UDP glucuronosyltransferase 2 family, polypeptide A1"""			10359671	Standard	NM_001252274		Approved		uc011caq.2	Q9Y4X1	OTTHUMG00000184942	ENST00000503640.1:c.715+7650G>A	chr4.hg19:g.70504997C>T		212.0	0.0		120.0	7.0	NM_001252274	B4E2F4|D3GER1|D3GER2|E9PDM7|J3KNA3	Missense_Mutation	SNP	ENST00000503640.1	hg19	CCDS3529.1	.	.	.	.	.	.	.	.	.	.	C	4.375	0.069181	0.08436	.	.	ENSG00000173610	ENST00000457664;ENST00000514019	T;T	0.61158	0.36;0.13	5.85	5.01	0.66863	.	.	.	.	.	T	0.32041	0.0816	N	0.04508	-0.205	.	.	.	B;P	0.39424	0.032;0.673	B;B	0.36719	0.046;0.231	T	0.41680	-0.9495	8	0.27082	T	0.32	.	8.9764	0.35939	0.0:0.8346:0.0:0.1654	.	322;121	E9PDM7;Q9Y4X1-2	.;.	E	121;322	ENSP00000387888:G121E;ENSP00000425497:G322E	ENSP00000387888:G121E	G	-	2	0	UGT2A1	70539586	0.000000	0.05858	1.000000	0.80357	0.105000	0.19272	0.584000	0.23864	1.495000	0.48549	-0.237000	0.12165	GGA	.	.		0.363	UGT2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251554.3	NM_006798	
CDKL2	8999	hgsc.bcm.edu	37	4	76507088	76507088	+	Silent	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr4:76507088T>C	ENST00000429927.2	-	11	2140	c.1437A>G	c.(1435-1437)tcA>tcG	p.S479S	CDKL2_ENST00000307465.4_Silent_p.S556S	NM_003948.3	NP_003939.1	Q92772	CDKL2_HUMAN	cyclin-dependent kinase-like 2 (CDC2-related kinase)	479					sex differentiation (GO:0007548)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)			breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2)	22			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			CTGAATCATCTGACAGGGGAG	0.403																																					p.S479S		Atlas-SNP	.											.	CDKL2	58	.	0			c.A1437G						.						76.0	74.0	75.0					4																	76507088		2203	4299	6502	SO:0001819	synonymous_variant	8999	exon11			ATCATCTGACAGG	U35146	CCDS3570.1	4q21.21	2011-11-04			ENSG00000138769	ENSG00000138769		"""Cyclin-dependent kinases"""	1782	protein-coding gene	gene with protein product		603442				9000130	Standard	NM_003948		Approved	P56, KKIAMRE	uc003hiq.3	Q92772	OTTHUMG00000130103	ENST00000429927.2:c.1437A>G	chr4.hg19:g.76507088T>C		144.0	0.0		87.0	4.0	NM_003948	B2R695	Silent	SNP	ENST00000429927.2	hg19	CCDS3570.1																																																																																			.	.		0.403	CDKL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252409.2	NM_003948	
SCD5	79966	hgsc.bcm.edu	37	4	83602015	83602015	+	Silent	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr4:83602015T>C	ENST00000319540.4	-	3	733	c.414A>G	c.(412-414)tcA>tcG	p.S138S	SCD5_ENST00000273908.4_Silent_p.S138S	NM_001037582.2	NP_001032671.2	Q86SK9	SCD5_HUMAN	stearoyl-CoA desaturase 5	138					fatty acid biosynthetic process (GO:0006633)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	iron ion binding (GO:0005506)|stearoyl-CoA 9-desaturase activity (GO:0004768)			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	13		Colorectal(4;0.0323)|Hepatocellular(203;0.115)				CATCCGTCTCTGAGTACTTGT	0.562																																					p.S138S		Atlas-SNP	.											.	SCD5	58	.	0			c.A414G						.						92.0	99.0	97.0					4																	83602015		2203	4300	6503	SO:0001819	synonymous_variant	79966	exon3			CGTCTCTGAGTAC	AF389338	CCDS3595.1, CCDS34024.1	4q21.3	2013-01-25	2005-06-09	2005-06-09	ENSG00000145284	ENSG00000145284		"""Fatty acid desaturases"""	21088	protein-coding gene	gene with protein product		608370	"""stearoyl-CoA desaturase 4"""	SCD4		12477932	Standard	NM_024906		Approved	ACOD4, FLJ21032, FADS4, HSCD5	uc003hna.2	Q86SK9	OTTHUMG00000130293	ENST00000319540.4:c.414A>G	chr4.hg19:g.83602015T>C		133.0	0.0		85.0	4.0	NM_024906	B2RPG0|Q4W5Q5|Q8NDS0|Q9H7D1	Silent	SNP	ENST00000319540.4	hg19	CCDS34024.1																																																																																			.	.		0.562	SCD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252635.1	NM_024906	
PTPN13	5783	hgsc.bcm.edu	37	4	87687669	87687669	+	Splice_Site	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr4:87687669A>G	ENST00000411767.2	+	27	4391	c.4328A>G	c.(4327-4329)cAg>cGg	p.Q1443R	PTPN13_ENST00000316707.6_Splice_Site_p.Q1252R|PTPN13_ENST00000427191.2_Splice_Site_p.Q1424R|PTPN13_ENST00000511467.1_Splice_Site_p.Q1448R|PTPN13_ENST00000436978.1_Splice_Site_p.Q1448R			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	1443	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		AATACAGGACAGGTAACAGAT	0.398																																					p.Q1448R		Atlas-SNP	.											.	PTPN13	203	.	0			c.A4343G						.						110.0	102.0	104.0					4																	87687669		1916	4131	6047	SO:0001630	splice_region_variant	5783	exon27			CAGGACAGGTAAC		CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.4329+1A>G	chr4.hg19:g.87687669A>G		119.0	0.0		79.0	4.0	NM_080685	B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Missense_Mutation	SNP	ENST00000411767.2	hg19	CCDS47094.1	.	.	.	.	.	.	.	.	.	.	A	31	5.058754	0.93846	.	.	ENSG00000163629	ENST00000427191;ENST00000436978;ENST00000316707;ENST00000411767;ENST00000511467;ENST00000357349	T;T;T;T;T	0.27256	1.68;1.68;1.68;1.68;1.68	5.24	5.24	0.73138	PDZ/DHR/GLGF (4);	0.000000	0.45361	D	0.000379	T	0.40040	0.1101	L	0.31420	0.93	0.80722	D	1	D;D;D;D	0.69078	0.984;0.984;0.996;0.997	D;D;D;D	0.91635	0.992;0.993;0.999;0.999	T	0.33497	-0.9866	10	0.87932	D	0	.	15.1489	0.72681	1.0:0.0:0.0:0.0	.	1252;1424;1443;1448	Q12923-2;Q12923-3;Q12923;Q12923-4	.;.;PTN13_HUMAN;.	R	1424;1448;1252;1443;1448;1392	ENSP00000408368:Q1424R;ENSP00000394794:Q1448R;ENSP00000322675:Q1252R;ENSP00000407249:Q1443R;ENSP00000426626:Q1448R	ENSP00000322675:Q1252R	Q	+	2	0	PTPN13	87906693	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.478000	0.90428	1.978000	0.57642	0.377000	0.23210	CAG	.	.		0.398	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363191.1		Missense_Mutation
HERC5	51191	hgsc.bcm.edu	37	4	89397168	89397168	+	Silent	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr4:89397168T>C	ENST00000264350.3	+	12	1722	c.1569T>C	c.(1567-1569)tcT>tcC	p.S523S	HERC5_ENST00000508159.1_Silent_p.S161S	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 5	523					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of defense response to virus (GO:0050688)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ISG15 ligase activity (GO:0042296)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		GTGACCAGTCTTCACTGGTTC	0.393																																					p.S523S	Esophageal Squamous(39;887 1012 34045 50514)	Atlas-SNP	.											.	HERC5	114	.	0			c.T1569C						.						127.0	124.0	125.0					4																	89397168		2203	4300	6503	SO:0001819	synonymous_variant	51191	exon12			CCAGTCTTCACTG	AB027289	CCDS3630.1	4q22.1-q23	2012-02-23	2012-02-23		ENSG00000138646	ENSG00000138646			24368	protein-coding gene	gene with protein product		608242	"""hect domain and RLD 5"""			10581175	Standard	NM_016323		Approved	CEB1	uc003hrt.4	Q9UII4	OTTHUMG00000130953	ENST00000264350.3:c.1569T>C	chr4.hg19:g.89397168T>C		190.0	0.0		124.0	5.0	NM_016323	B2RTQ1|Q69G20	Silent	SNP	ENST00000264350.3	hg19	CCDS3630.1																																																																																			.	.		0.393	HERC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253554.2	NM_016323	
RAP1GDS1	5910	hgsc.bcm.edu	37	4	99300176	99300176	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr4:99300176A>G	ENST00000408927.3	+	5	483	c.370A>G	c.(370-372)Aga>Gga	p.R124G	RAP1GDS1_ENST00000264572.7_Intron|RAP1GDS1_ENST00000380158.4_Intron|RAP1GDS1_ENST00000512857.1_Intron|RAP1GDS1_ENST00000408900.3_Intron|RAP1GDS1_ENST00000453712.2_Missense_Mutation_p.R125G|RAP1GDS1_ENST00000339360.5_Missense_Mutation_p.R125G	NM_001100426.1|NM_001100427.1|NM_021159.4	NP_001093896.1|NP_001093897.1|NP_066982.3	P52306	GDS1_HUMAN	RAP1, GTP-GDP dissociation stimulator 1	124					myosin filament assembly (GO:0031034)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|positive regulation of Rho GTPase activity (GO:0032321)|vascular smooth muscle contraction (GO:0014829)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)	28				OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)		AGATGAGGGCAGAAGTGCAGT	0.343			T	NUP98	T-ALL																																p.R125G		Atlas-SNP	.		Dom	yes		4	4q21-q25	5910	"""RAP1, GTP-GDP dissociation stimulator 1"""		L	.	RAP1GDS1	61	.	0			c.A373G						.						91.0	86.0	88.0					4																	99300176		1862	4101	5963	SO:0001583	missense	5910	exon5			GAGGGCAGAAGTG		CCDS43253.1, CCDS43254.1, CCDS47105.1, CCDS47106.1, CCDS47107.1, CCDS47108.1	4q23-q25	2013-02-14			ENSG00000138698	ENSG00000138698		"""Armadillo repeat containing"""	9859	protein-coding gene	gene with protein product		179502				8262526, 17951244	Standard	NM_001100426		Approved	SmgGDS	uc003htw.4	P52306	OTTHUMG00000160987	ENST00000408927.3:c.370A>G	chr4.hg19:g.99300176A>G	ENSP00000386153:p.Arg124Gly	129.0	0.0		65.0	15.0	NM_001100426	E9PH06|G5E9P9|Q499L7|Q4KMV2|Q4QQI8|Q9BUW9|Q9BUX6|Q9NYM2|Q9NZA8	Missense_Mutation	SNP	ENST00000408927.3	hg19	CCDS43253.1	.	.	.	.	.	.	.	.	.	.	A	15.99	2.994822	0.54041	.	.	ENSG00000138698	ENST00000508213;ENST00000408927;ENST00000453712;ENST00000511212;ENST00000339360	T;T;T;T;T	0.55930	0.49;0.63;0.63;0.49;0.63	5.95	4.75	0.60458	Armadillo-like helical (1);Armadillo-type fold (1);	0.145674	0.56097	D	0.000028	T	0.40767	0.1130	N	0.19112	0.55	0.80722	D	1	B;B;B;B	0.23377	0.041;0.084;0.001;0.041	B;B;B;B	0.28139	0.037;0.086;0.003;0.037	T	0.31420	-0.9944	10	0.87932	D	0	-15.4991	12.5273	0.56093	0.875:0.0:0.0:0.125	.	124;125;125;124	P52306;Q4QQI8;G5E9P9;B3KNU0	GDS1_HUMAN;.;.;.	G	83;124;125;83;125	ENSP00000426096:R83G;ENSP00000386153:R124G;ENSP00000407157:R125G;ENSP00000421599:R83G;ENSP00000340454:R125G	ENSP00000340454:R125G	R	+	1	2	RAP1GDS1	99519199	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.900000	0.92551	1.044000	0.40200	0.533000	0.62120	AGA	.	.		0.343	RAP1GDS1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363273.2	NM_001100426	
CENPE	1062	hgsc.bcm.edu	37	4	104116362	104116362	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr4:104116362A>G	ENST00000265148.3	-	5	475	c.386T>C	c.(385-387)gTa>gCa	p.V129A	CENPE_ENST00000380026.3_Missense_Mutation_p.V129A	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	129	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		CATGTAAGATACACGTAAGAG	0.323																																					p.V129A		Atlas-SNP	.											.	CENPE	253	.	0			c.T386C						.						71.0	71.0	71.0					4																	104116362		2203	4292	6495	SO:0001583	missense	1062	exon5			TAAGATACACGTA	Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"""Kinesins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1856	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 61"""	117143	"""centromere protein E (312kD)"""			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.386T>C	chr4.hg19:g.104116362A>G	ENSP00000265148:p.Val129Ala	155.0	0.0		128.0	6.0	NM_001813	A6NKY9|A8K2U7|Q4LE75	Missense_Mutation	SNP	ENST00000265148.3	hg19	CCDS34042.1	.	.	.	.	.	.	.	.	.	.	A	29.6	5.017206	0.93404	.	.	ENSG00000138778	ENST00000265148;ENST00000394771;ENST00000380026;ENST00000503705	T;T;T	0.78481	-1.18;-1.18;-1.18	5.94	5.94	0.96194	Kinesin, motor domain (4);	.	.	.	.	D	0.85885	0.5801	L	0.57536	1.79	0.80722	D	1	P;D	0.65815	0.937;0.995	P;D	0.73708	0.812;0.981	D	0.85783	0.1362	9	0.48119	T	0.1	.	16.4075	0.83691	1.0:0.0:0.0:0.0	.	129;129	Q02224-3;Q02224	.;CENPE_HUMAN	A	129	ENSP00000265148:V129A;ENSP00000369365:V129A;ENSP00000423981:V129A	ENSP00000265148:V129A	V	-	2	0	CENPE	104335811	1.000000	0.71417	0.993000	0.49108	0.989000	0.77384	8.489000	0.90461	2.275000	0.75901	0.528000	0.53228	GTA	.	.		0.323	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
LRIT3	345193	hgsc.bcm.edu	37	4	110791336	110791336	+	Silent	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr4:110791336A>G	ENST00000594814.1	+	4	1431	c.1431A>G	c.(1429-1431)caA>caG	p.Q477Q	LRIT3_ENST00000409621.2_Silent_p.Q294Q|LRIT3_ENST00000379920.3_Silent_p.Q432Q|LRIT3_ENST00000327908.3_Silent_p.Q294Q	NM_198506.3	NP_940908.3	Q3SXY7	LRIT3_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 3	477					regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		TGTTGGATCAAACAATGCTTA	0.443																																					p.Q477Q		Atlas-SNP	.											.	LRIT3	107	.	0			c.A1431G						.						79.0	78.0	78.0					4																	110791336		2203	4300	6503	SO:0001819	synonymous_variant	345193	exon4			GGATCAAACAATG	AK126648	CCDS3688.2, CCDS3688.3	4q25	2014-01-28	2007-06-19		ENSG00000183423	ENSG00000183423		"""Immunoglobulin superfamily / I-set domain containing"""	24783	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 4"""	615004					Standard	NM_198506		Approved	FLJ44691, FIGLER4, CSNB1F	uc031sgv.1	Q3SXY7	OTTHUMG00000132043	ENST00000594814.1:c.1431A>G	chr4.hg19:g.110791336A>G		214.0	0.0		124.0	5.0	NM_198506	C9J1C2|Q6ZTG1	Silent	SNP	ENST00000594814.1	hg19	CCDS3688.3																																																																																			.	.		0.443	LRIT3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335270.2	NM_198506	
FAT4	79633	hgsc.bcm.edu	37	4	126240414	126240414	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr4:126240414A>G	ENST00000394329.3	+	1	2861	c.2848A>G	c.(2848-2850)Agt>Ggt	p.S950G		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	950	Cadherin 9. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TGGCACTATTAGTCTGCTTGG	0.473																																					p.S950G		Atlas-SNP	.											.	FAT4	1752	.	0			c.A2848G						.						62.0	64.0	64.0					4																	126240414		1936	4158	6094	SO:0001583	missense	79633	exon1			ACTATTAGTCTGC	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.2848A>G	chr4.hg19:g.126240414A>G	ENSP00000377862:p.Ser950Gly	143.0	0.0		100.0	4.0	NM_024582	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	hg19	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	A	9.167	1.020141	0.19433	.	.	ENSG00000196159	ENST00000394329	T	0.02579	4.24	5.1	3.93	0.45458	Cadherin (4);Cadherin-like (1);	0.000000	0.40064	U	0.001198	T	0.06735	0.0172	M	0.67569	2.06	0.80722	D	1	P	0.36110	0.537	P	0.44921	0.464	T	0.33266	-0.9875	10	0.29301	T	0.29	.	10.6052	0.45390	0.9256:0.0:0.0744:0.0	.	950	Q6V0I7	FAT4_HUMAN	G	950	ENSP00000377862:S950G	ENSP00000377862:S950G	S	+	1	0	FAT4	126459864	1.000000	0.71417	0.881000	0.34555	0.017000	0.09413	4.740000	0.62087	0.981000	0.38548	0.533000	0.62120	AGT	.	.		0.473	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582	
HSPA4L	22824	hgsc.bcm.edu	37	4	128716923	128716923	+	Splice_Site	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr4:128716923A>G	ENST00000296464.4	+	3	577	c.166A>G	c.(166-168)Ata>Gta	p.I56V	HSPA4L_ENST00000505726.1_Splice_Site_p.I30V|HSPA4L_ENST00000439123.2_Splice_Site_p.I87V|HSPA4L_ENST00000508776.1_Splice_Site_p.I56V	NM_014278.2	NP_055093.2	O95757	HS74L_HUMAN	heat shock 70kDa protein 4-like	56					protein folding (GO:0006457)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)			central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						CTGCCAACAGATAGTCACGAA	0.368																																					p.I56V		Atlas-SNP	.											.	HSPA4L	82	.	0			c.A166G						.						78.0	76.0	77.0					4																	128716923		2203	4300	6503	SO:0001630	splice_region_variant	22824	exon3			CAACAGATAGTCA	AB023421	CCDS3734.1	4q28	2011-09-07			ENSG00000164070	ENSG00000164070		"""Heat shock proteins / HSP70"""	17041	protein-coding gene	gene with protein product						10524232	Standard	NM_014278		Approved	APG-1, Osp94, HSPH3	uc003ifm.3	O95757	OTTHUMG00000133302	ENST00000296464.4:c.166-1A>G	chr4.hg19:g.128716923A>G		198.0	0.0		117.0	5.0	NM_014278	A2ICT2|Q4W5M5|Q8IWA2	Missense_Mutation	SNP	ENST00000296464.4	hg19	CCDS3734.1	.	.	.	.	.	.	.	.	.	.	A	2.046	-0.418818	0.04766	.	.	ENSG00000164070	ENST00000508776;ENST00000439123;ENST00000296464;ENST00000508549;ENST00000505726	T;T;T;T;T	0.01406	5.62;5.62;5.62;4.93;5.62	4.51	4.51	0.55191	.	0.069562	0.64402	D	0.000007	T	0.00724	0.0024	N	0.01624	-0.795	0.49051	D	0.99974	B;B;B	0.30068	0.019;0.267;0.267	B;B;B	0.33799	0.035;0.17;0.17	T	0.67711	-0.5600	9	.	.	.	.	8.6728	0.34161	0.915:0.0:0.085:0.0	.	30;56;56	E9PDE8;A2ICT2;O95757	.;.;HS74L_HUMAN	V	56;87;56;56;30	ENSP00000422482:I56V;ENSP00000393926:I87V;ENSP00000296464:I56V;ENSP00000427305:I56V;ENSP00000425645:I30V	.	I	+	1	0	HSPA4L	128936373	1.000000	0.71417	1.000000	0.80357	0.811000	0.45836	3.199000	0.51043	1.902000	0.55061	0.383000	0.25322	ATA	.	.		0.368	HSPA4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257096.3	NM_014278	Missense_Mutation
SMARCA5	8467	hgsc.bcm.edu	37	4	144464786	144464786	+	Silent	SNP	T	T	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr4:144464786T>A	ENST00000283131.3	+	15	2490	c.2028T>A	c.(2026-2028)ggT>ggA	p.G676G		NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	676					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA-templated transcription, initiation (GO:0006352)|double-strand break repair (GO:0006302)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromatin silencing complex (GO:0005677)|condensed chromosome (GO:0000793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NURF complex (GO:0016589)|RSF complex (GO:0031213)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)		EWSR1/SMARCA5(2)	endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(180;0.158)					ATATCGATGGTATTTTGGAAA	0.328																																					p.G676G		Atlas-SNP	.											.	SMARCA5	73	.	0			c.T2028A						.						104.0	102.0	103.0					4																	144464786		2203	4300	6503	SO:0001819	synonymous_variant	8467	exon15			CGATGGTATTTTG	AB010882	CCDS3761.1	4q31.1-q31.2	2011-04-20			ENSG00000153147	ENSG00000153147			11101	protein-coding gene	gene with protein product		603375				9730600	Standard	NM_003601		Approved	hSNF2H, hISWI, ISWI	uc003ijg.3	O60264	OTTHUMG00000161474	ENST00000283131.3:c.2028T>A	chr4.hg19:g.144464786T>A		150.0	0.0		97.0	4.0	NM_003601		Silent	SNP	ENST00000283131.3	hg19	CCDS3761.1																																																																																			.	.		0.328	SMARCA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365077.3		
PRMT9	90826	hgsc.bcm.edu	37	4	148589795	148589795	+	Splice_Site	SNP	G	G	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr4:148589795G>A	ENST00000322396.6	-	6	1090	c.848C>T	c.(847-849)aCc>aTc	p.T283I	TMEM184C_ENST00000508208.1_Intron|PRMT10_ENST00000541232.1_Splice_Site_p.T170I	NM_138364.2	NP_612373.2	Q6P2P2	ANM9_HUMAN		283	SAM-dependent MTase PRMT-type 1. {ECO:0000255|PROSITE-ProRule:PRU01015}.					cytoplasm (GO:0005737)	protein methyltransferase activity (GO:0008276)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						TTCACCTTTGGTCTAAAAAAA	0.294																																					p.T283I		Atlas-SNP	.											.	PRMT10	68	.	0			c.C848T						.						93.0	90.0	91.0					4																	148589795		2203	4300	6503	SO:0001630	splice_region_variant	90826	exon6			CCTTTGGTCTAAA																												ENST00000322396.6:c.847-1C>T	chr4.hg19:g.148589795G>A		122.0	0.0		98.0	5.0	NM_138364	A8KA39|B3KU92|Q6ZR58|Q8N383|Q9BT55|Q9NT98	Missense_Mutation	SNP	ENST00000322396.6	hg19	CCDS3771.1	.	.	.	.	.	.	.	.	.	.	G	13.52	2.261880	0.39995	.	.	ENSG00000164169	ENST00000322396;ENST00000541232	T;T	0.24723	1.84;1.84	6.03	4.32	0.51571	.	0.587759	0.19804	N	0.105700	T	0.20618	0.0496	L	0.29908	0.895	0.30275	N	0.791883	B	0.02656	0.0	B	0.01281	0.0	T	0.09143	-1.0688	10	0.56958	D	0.05	-8.0681	12.9078	0.58162	0.1311:0.0:0.8689:0.0	.	283	Q6P2P2	ANM10_HUMAN	I	283;170	ENSP00000314396:T283I;ENSP00000439508:T170I	ENSP00000314396:T283I	T	-	2	0	PRMT10	148809245	0.961000	0.32948	0.913000	0.36048	0.900000	0.52787	1.497000	0.35649	0.891000	0.36235	0.551000	0.68910	ACC	.	.		0.294	PRMT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364650.1		Missense_Mutation
DCHS2	54798	hgsc.bcm.edu	37	4	155180908	155180908	+	Splice_Site	SNP	C	C	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr4:155180908C>T	ENST00000357232.4	-	20	5212	c.5213G>A	c.(5212-5214)gGa>gAa	p.G1738E		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1738	Cadherin 15. {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)		AGTGAGTTGTCCTATTTTTAT	0.313																																					p.G1738E		Atlas-SNP	.											.	DCHS2	594	.	0			c.G5213A						.						52.0	51.0	51.0					4																	155180908		2202	4300	6502	SO:0001630	splice_region_variant	54798	exon20			AGTTGTCCTATTT	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.5213-1G>A	chr4.hg19:g.155180908C>T		98.0	0.0		61.0	4.0	NM_017639	B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	hg19	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.193765	0.78902	.	.	ENSG00000197410	ENST00000357232	T	0.57107	0.42	5.52	5.52	0.82312	Cadherin (4);Cadherin-like (1);	0.000000	0.64402	D	0.000002	T	0.81683	0.4874	H	0.95745	3.715	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86719	0.1941	10	0.87932	D	0	.	18.5738	0.91147	0.0:1.0:0.0:0.0	.	1738	Q6V1P9	PCD23_HUMAN	E	1738	ENSP00000349768:G1738E	ENSP00000349768:G1738E	G	-	2	0	DCHS2	155400358	1.000000	0.71417	1.000000	0.80357	0.839000	0.47603	5.690000	0.68241	2.760000	0.94817	0.655000	0.94253	GGA	.	.		0.313	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552	Missense_Mutation
GUCY1A3	2982	hgsc.bcm.edu	37	4	156631936	156631936	+	Missense_Mutation	SNP	C	C	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr4:156631936C>T	ENST00000296518.7	+	6	828	c.619C>T	c.(619-621)Cct>Tct	p.P207S	GUCY1A3_ENST00000511507.1_Missense_Mutation_p.P207S|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.P207S|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.P207S|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.P207S|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.P207S|GUCY1A3_ENST00000393832.3_5'UTR			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	207					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of cGMP biosynthetic process (GO:0030828)|regulation of blood pressure (GO:0008217)|relaxation of vascular smooth muscle (GO:0060087)|response to defense-related host nitric oxide production (GO:0052565)	guanylate cyclase complex, soluble (GO:0008074)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		CTACTTCTTCCCTAAGAGAAC	0.478																																					p.P207S		Atlas-SNP	.											.	GUCY1A3	133	.	0			c.C619T						.						77.0	81.0	80.0					4																	156631936		2203	4300	6503	SO:0001583	missense	2982	exon6			TTCTTCCCTAAGA		CCDS34085.1, CCDS54812.1	4q31.3-q33	2008-03-18				ENSG00000164116	4.6.1.2		4685	protein-coding gene	gene with protein product		139396		GUC1A3		1352257	Standard	NM_001130687		Approved	GC-SA3	uc003iow.3	Q02108		ENST00000296518.7:c.619C>T	chr4.hg19:g.156631936C>T	ENSP00000296518:p.Pro207Ser	138.0	0.0		96.0	27.0	NM_001130687	D3DP19|D6RDW3|O43843|Q8TAH3	Missense_Mutation	SNP	ENST00000296518.7	hg19	CCDS34085.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.177777	0.78564	.	.	ENSG00000164116	ENST00000506455;ENST00000511108;ENST00000511507;ENST00000455639;ENST00000296518;ENST00000513574	T;T;T;T;T;T	0.40225	1.04;1.04;1.04;1.04;1.04;1.04	5.64	4.79	0.61399	Heme-NO binding (1);	0.090923	0.48767	N	0.000174	T	0.60663	0.2286	M	0.74881	2.28	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.60591	-0.7233	10	0.09843	T	0.71	.	14.7505	0.69522	0.0:0.9302:0.0:0.0698	.	207;207;207	B3KU69;Q02108;D6RDW3	.;GCYA3_HUMAN;.	S	207	ENSP00000424361:P207S;ENSP00000421493:P207S;ENSP00000426968:P207S;ENSP00000412201:P207S;ENSP00000296518:P207S;ENSP00000426040:P207S	ENSP00000296518:P207S	P	+	1	0	GUCY1A3	156851386	1.000000	0.71417	0.991000	0.47740	0.846000	0.48090	5.524000	0.67105	1.498000	0.48600	0.643000	0.83706	CCT	.	.		0.478	GUCY1A3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365786.2		
TENM3	55714	hgsc.bcm.edu	37	4	183651371	183651371	+	Silent	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr4:183651371A>G	ENST00000511685.1	+	15	2727	c.2604A>G	c.(2602-2604)agA>agG	p.R868R	TENM3_ENST00000502950.1_3'UTR|TENM3_ENST00000406950.2_Silent_p.R868R			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	868					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										CTGTCATCAGAGGCCAAGTAC	0.398																																					p.R868R		Atlas-SNP	.											.	.	.	.	0			c.A2604G						.						116.0	108.0	111.0					4																	183651371		1875	4123	5998	SO:0001819	synonymous_variant	55714	exon14			CATCAGAGGCCAA	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.2604A>G	chr4.hg19:g.183651371A>G		209.0	0.0		142.0	6.0	NM_001080477	Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Silent	SNP	ENST00000511685.1	hg19	CCDS47165.1																																																																																			.	.		0.398	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1		
PDLIM3	27295	hgsc.bcm.edu	37	4	186446276	186446276	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr4:186446276A>G	ENST00000284770.5	-	2	216	c.143T>C	c.(142-144)gTc>gCc	p.V48A	PDLIM3_ENST00000284767.5_Missense_Mutation_p.V48A|PDLIM3_ENST00000284771.6_Missense_Mutation_p.V48A	NM_014476.5	NP_055291.2	Q53GG5	PDLI3_HUMAN	PDZ and LIM domain 3	48	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				actin filament organization (GO:0007015)|heart development (GO:0007507)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	structural constituent of muscle (GO:0008307)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.4e-10)|BRCA - Breast invasive adenocarcinoma(30;8.64e-05)|GBM - Glioblastoma multiforme(59;0.000167)|STAD - Stomach adenocarcinoma(60;0.000828)|LUSC - Lung squamous cell carcinoma(40;0.00984)|COAD - Colon adenocarcinoma(29;0.0115)|READ - Rectum adenocarcinoma(43;0.171)		AGCCAGGATGACATCTCCAGG	0.493																																					p.V48A		Atlas-SNP	.											.	PDLIM3	49	.	0			c.T143C						.						115.0	107.0	109.0					4																	186446276		2203	4300	6503	SO:0001583	missense	27295	exon2			AGGATGACATCTC	AF002280	CCDS3844.1, CCDS47172.1, CCDS75218.1, CCDS75219.1	4q35	2014-09-17			ENSG00000154553	ENSG00000154553			20767	protein-coding gene	gene with protein product		605889				10063829, 8828038	Standard	NM_014476		Approved	ALP	uc003ixw.4	Q53GG5	OTTHUMG00000160412	ENST00000284770.5:c.143T>C	chr4.hg19:g.186446276A>G	ENSP00000284770:p.Val48Ala	107.0	0.0		75.0	4.0	NM_001257962	B2R866|O43590|O60439|O60440|Q8N6Y6|Q9BVP4	Missense_Mutation	SNP	ENST00000284770.5	hg19	CCDS3844.1	.	.	.	.	.	.	.	.	.	.	A	25.1	4.598495	0.87055	.	.	ENSG00000154553	ENST00000284770;ENST00000284771;ENST00000284767	T;T;T	0.28255	1.62;1.62;1.62	5.44	5.44	0.79542	PDZ/DHR/GLGF (4);	0.305950	0.38217	N	0.001771	T	0.36853	0.0982	M	0.70903	2.155	0.58432	D	0.999992	P;B;B	0.38617	0.64;0.099;0.058	B;B;B	0.37198	0.243;0.13;0.102	T	0.37150	-0.9718	10	0.72032	D	0.01	-30.1404	15.7888	0.78332	1.0:0.0:0.0:0.0	.	48;48;48	Q53GG5-3;Q53GG5-2;Q53GG5	.;.;PDLI3_HUMAN	A	48	ENSP00000284770:V48A;ENSP00000284771:V48A;ENSP00000284767:V48A	ENSP00000284767:V48A	V	-	2	0	PDLIM3	186683270	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.885000	0.92439	2.194000	0.70268	0.459000	0.35465	GTC	.	.		0.493	PDLIM3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360499.2	NM_014476	
FAT1	2195	hgsc.bcm.edu	37	4	187584675	187584675	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr4:187584675A>G	ENST00000441802.2	-	3	3567	c.3358T>C	c.(3358-3360)Tca>Cca	p.S1120P		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1120	Cadherin 9. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ATGAACGATGAAAGAGGCACG	0.458										HNSCC(5;0.00058)																											p.S1120P	Colon(197;1040 2055 4143 4984 49344)	Atlas-SNP	.											.	FAT1	500	.	0			c.T3358C						.						134.0	133.0	133.0					4																	187584675		1985	4173	6158	SO:0001583	missense	2195	exon3			ACGATGAAAGAGG	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.3358T>C	chr4.hg19:g.187584675A>G	ENSP00000406229:p.Ser1120Pro	144.0	0.0		89.0	5.0	NM_005245		Missense_Mutation	SNP	ENST00000441802.2	hg19	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	A	17.44	3.389748	0.61956	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.55588	0.51	5.12	5.12	0.69794	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.60248	0.2254	M	0.85462	2.755	0.80722	D	1	P	0.38863	0.65	B	0.40782	0.34	T	0.62671	-0.6805	10	0.27785	T	0.31	.	15.0887	0.72177	1.0:0.0:0.0:0.0	.	1120	Q14517	FAT1_HUMAN	P	1120	ENSP00000406229:S1120P	ENSP00000260147:S1120P	S	-	1	0	FAT1	187821669	1.000000	0.71417	0.176000	0.23000	0.237000	0.25408	7.304000	0.78882	2.155000	0.67459	0.482000	0.46254	TCA	.	.		0.458	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245	
DNAH5	1767	hgsc.bcm.edu	37	5	13820548	13820548	+	Nonsense_Mutation	SNP	C	C	A	rs201285946		TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr5:13820548C>A	ENST00000265104.4	-	41	6852	c.6748G>T	c.(6748-6750)Gaa>Taa	p.E2250*		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2250	AAA 2. {ECO:0000250}.			LFE -> QTK (in Ref. 2; AAL06603). {ECO:0000305}.	cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CTCTGCGTTTCGAATAGCTGG	0.493									Kartagener syndrome																												p.E2250X		Atlas-SNP	.											DNAH5,colon,carcinoma,0,1	DNAH5	868	.	0			c.G6748T						.						114.0	98.0	103.0					5																	13820548		2203	4300	6503	SO:0001587	stop_gained	1767	exon41	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	GCGTTTCGAATAG	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.6748G>T	chr5.hg19:g.13820548C>A	ENSP00000265104:p.Glu2250*	66.0	0.0		44.0	2.0	NM_001369	Q92860|Q96L74|Q9H5S7|Q9HCG9	Nonsense_Mutation	SNP	ENST00000265104.4	hg19	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	C	49	15.511972	0.99836	.	.	ENSG00000039139	ENST00000265104	.	.	.	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.1056	0.93293	0.0:1.0:0.0:0.0	.	.	.	.	X	2250	.	ENSP00000265104:E2250X	E	-	1	0	DNAH5	13873548	1.000000	0.71417	0.992000	0.48379	0.898000	0.52572	7.669000	0.83911	2.579000	0.87056	0.650000	0.86243	GAA	.	.		0.493	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369	
PDZD2	23037	hgsc.bcm.edu	37	5	32037370	32037370	+	Missense_Mutation	SNP	G	G	T	rs529949435		TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr5:32037370G>T	ENST00000438447.1	+	7	1829	c.1441G>T	c.(1441-1443)Ggt>Tgt	p.G481C	PDZD2_ENST00000282493.3_Missense_Mutation_p.G481C			O15018	PDZD2_HUMAN	PDZ domain containing 2	481					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)		p.G481S(1)		NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						AGATGTGTGCGGTGCTGAGGA	0.537																																					p.G481C		Atlas-SNP	.											PDZD2,caecum,carcinoma,0,1	PDZD2	306	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1441T						.						79.0	76.0	77.0					5																	32037370		2203	4300	6503	SO:0001583	missense	23037	exon6			GTGTGCGGTGCTG	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.1441G>T	chr5.hg19:g.32037370G>T	ENSP00000402033:p.Gly481Cys	77.0	1.0		65.0	4.0	NM_178140	Q9BXD4	Missense_Mutation	SNP	ENST00000438447.1	hg19	CCDS34137.1	.	.	.	.	.	.	.	.	.	.	G	9.197	1.027487	0.19512	.	.	ENSG00000133401	ENST00000438447;ENST00000282493	T;T	0.07327	3.2;3.2	5.37	2.44	0.29823	.	0.123056	0.37623	N	0.002014	T	0.03827	0.0108	N	0.14661	0.345	0.09310	N	1	B;B	0.34161	0.015;0.439	B;B	0.29862	0.006;0.108	T	0.39781	-0.9597	10	0.31617	T	0.26	.	4.9949	0.14233	0.1905:0.0:0.6413:0.1682	.	307;481	B4E3P2;O15018	.;PDZD2_HUMAN	C	481	ENSP00000402033:G481C;ENSP00000282493:G481C	ENSP00000282493:G481C	G	+	1	0	PDZD2	32073127	0.397000	0.25270	0.019000	0.16419	0.087000	0.18053	1.164000	0.31810	0.749000	0.32854	-0.136000	0.14681	GGT	.	.		0.537	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1		
NADK2	133686	hgsc.bcm.edu	37	5	36207278	36207278	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr5:36207278T>C	ENST00000381937.4	-	8	949	c.950A>G	c.(949-951)aAg>aGg	p.K317R	NADK2_ENST00000282512.3_Missense_Mutation_p.K154R|NADK2_ENST00000397338.1_Missense_Mutation_p.K154R|NADK2_ENST00000511613.1_5'UTR|NADK2_ENST00000506945.1_Missense_Mutation_p.K176R|NADK2_ENST00000514504.1_Intron	NM_001085411.1	NP_001078880.1	Q4G0N4	NAKD2_HUMAN	NAD kinase 2, mitochondrial	317					NAD metabolic process (GO:0019674)|NADP biosynthetic process (GO:0006741)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|NAD+ kinase activity (GO:0003951)|protein homodimerization activity (GO:0042803)										TCACCAGGCCTTTGATCCTGT	0.398																																					p.K317R		Atlas-SNP	.											.	NADKD1	47	.	0			c.A950G						.						131.0	132.0	132.0					5																	36207278		2203	4300	6503	SO:0001583	missense	133686	exon8			CAGGCCTTTGATC	BC062567	CCDS3917.1, CCDS47197.1, CCDS75235.1	5p13.2	2013-04-30	2013-04-30	2013-04-30	ENSG00000152620	ENSG00000152620			26404	protein-coding gene	gene with protein product	"""mitochondrial NAD kinase"""	615787	"""chromosome 5 open reading frame 33"", ""NAD kinase domain containing 1"""	C5orf33, NADKD1		23616928	Standard	NM_001085411		Approved	FLJ30596, MNADK	uc003jkf.4	Q4G0N4	OTTHUMG00000131105	ENST00000381937.4:c.950A>G	chr5.hg19:g.36207278T>C	ENSP00000371362:p.Lys317Arg	116.0	0.0		104.0	5.0	NM_001085411	B5MC93|Q6UTX5|Q96NM0	Missense_Mutation	SNP	ENST00000381937.4	hg19	CCDS47197.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.03|19.03	3.748371|3.748371	0.69533|0.69533	.|.	.|.	ENSG00000152620|ENSG00000152620	ENST00000397338;ENST00000282512;ENST00000381937;ENST00000506945|ENST00000502355	T;T;T;T|.	0.41758|.	0.99;0.99;0.99;0.99|.	6.05|6.05	4.86|4.86	0.63082|0.63082	ATP-NAD kinase, PpnK-type, all-beta (1);ATP-NAD kinase, PpnK-type (1);|.	0.043026|.	0.85682|.	D|.	0.000000|.	T|T	0.57446|0.57446	0.2054|0.2054	L|L	0.41236|0.41236	1.265|1.265	0.80722|0.80722	D|D	1|1	D;B|.	0.67145|.	0.996;0.338|.	D;B|.	0.65573|.	0.936;0.239|.	T|T	0.52823|0.52823	-0.8524|-0.8524	10|5	0.72032|.	D|.	0.01|.	-22.1645|-22.1645	13.328|13.328	0.60471|0.60471	0.0:0.0:0.1319:0.8681|0.0:0.0:0.1319:0.8681	.|.	176;317|.	B7Z8V7;Q4G0N4|.	.;NAKD1_HUMAN|.	R|G	154;154;317;176|30	ENSP00000380499:K154R;ENSP00000282512:K154R;ENSP00000371362:K317R;ENSP00000422250:K176R|.	ENSP00000282512:K154R|.	K|R	-|-	2|1	0|2	NADKD1|NADKD1	36243035|36243035	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.883000|0.883000	0.51084|0.51084	7.652000|7.652000	0.83633|0.83633	1.077000|1.077000	0.40990|0.40990	0.528000|0.528000	0.53228|0.53228	AAG|AGG	.	.		0.398	NADK2-003	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367541.1	NM_153013	
IL6ST	3572	hgsc.bcm.edu	37	5	55259292	55259292	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr5:55259292T>C	ENST00000381298.2	-	7	1013	c.701A>G	c.(700-702)gAg>gGg	p.E234G	IL6ST_ENST00000522633.2_Missense_Mutation_p.E234G|IL6ST_ENST00000381294.3_Missense_Mutation_p.E234G|IL6ST_ENST00000381287.4_Missense_Mutation_p.E234G|IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000336909.5_Missense_Mutation_p.E234G|IL6ST_ENST00000577363.1_5'Flank|IL6ST_ENST00000381293.2_Missense_Mutation_p.E68G|IL6ST_ENST00000536319.1_Missense_Mutation_p.E234G|IL6ST_ENST00000502326.3_Missense_Mutation_p.E234G	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN	interleukin 6 signal transducer	234	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|glycogen metabolic process (GO:0005977)|interleukin-27-mediated signaling pathway (GO:0070106)|interleukin-6-mediated signaling pathway (GO:0070102)|leukemia inhibitory factor signaling pathway (GO:0048861)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-6-mediated signaling pathway (GO:0070104)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of Notch signaling pathway (GO:0008593)|response to cytokine (GO:0034097)|viral process (GO:0016032)	ciliary neurotrophic factor receptor complex (GO:0070110)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|interleukin-6 receptor complex (GO:0005896)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|oncostatin-M receptor complex (GO:0005900)|plasma membrane (GO:0005886)	ciliary neurotrophic factor receptor activity (GO:0004897)|ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|interleukin-11 receptor activity (GO:0004921)|interleukin-27 receptor activity (GO:0045509)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				AGACAGTTCCTCTGAGTTGAT	0.313			O		hepatocellular ca																																p.E234G		Atlas-SNP	.		Dom	yes		5	5q11	3572	"""interleukin 6 signal transducer (gp130, oncostatin M receptor)"""		E	.	IL6ST	75	.	0			c.A701G						.						101.0	103.0	102.0					5																	55259292		2203	4300	6503	SO:0001583	missense	3572	exon7			AGTTCCTCTGAGT	M57230	CCDS3971.1, CCDS47209.1, CCDS54856.1	5q11.2	2014-04-04	2014-04-04		ENSG00000134352	ENSG00000134352		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	6021	protein-coding gene	gene with protein product	"""gp130, oncostatin M receptor"""	600694	"""interleukin 6 signal transducer (gp130, oncostatin M receptor)"""			2261637	Standard	NM_002184		Approved	GP130, CD130	uc003jqq.3	P40189	OTTHUMG00000097043	ENST00000381298.2:c.701A>G	chr5.hg19:g.55259292T>C	ENSP00000370698:p.Glu234Gly	119.0	0.0		95.0	4.0	NM_175767	A0N0L4|Q5FC04|Q9UQ41	Missense_Mutation	SNP	ENST00000381298.2	hg19	CCDS3971.1	.	.	.	.	.	.	.	.	.	.	T	12.39	1.924400	0.34002	.	.	ENSG00000134352	ENST00000381298;ENST00000336909;ENST00000381294;ENST00000381287;ENST00000536319;ENST00000381293;ENST00000522633;ENST00000542298	T;T;T;T;T;T;T	0.40225	1.27;1.27;1.04;1.31;1.31;1.64;1.31	5.91	5.91	0.95273	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.464496	0.23472	N	0.047806	T	0.24812	0.0602	N	0.25144	0.715	0.80722	D	1	B;B;B;B	0.24186	0.099;0.002;0.003;0.001	B;B;B;B	0.19946	0.027;0.003;0.002;0.002	T	0.18555	-1.0333	10	0.27082	T	0.32	.	4.5312	0.12006	0.1627:0.1109:0.0:0.7263	.	68;234;234;234	Q5FC05;Q5FC04;P40189-2;P40189	.;.;.;IL6RB_HUMAN	G	234;234;234;234;234;68;234;234	ENSP00000370698:E234G;ENSP00000338799:E234G;ENSP00000370694:E234G;ENSP00000370687:E234G;ENSP00000444456:E234G;ENSP00000370693:E68G;ENSP00000435399:E234G	ENSP00000338799:E234G	E	-	2	0	IL6ST	55295049	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.519000	0.35888	2.261000	0.74972	0.533000	0.62120	GAG	.	.		0.313	IL6ST-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000214146.3	NM_002184	
ZSWIM6	57688	hgsc.bcm.edu	37	5	60835544	60835544	+	Silent	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr5:60835544A>G	ENST00000252744.5	+	12	2661	c.2661A>G	c.(2659-2661)ccA>ccG	p.P887P		NM_020928.1	NP_065979.1	Q9HCJ5	ZSWM6_HUMAN	zinc finger, SWIM-type containing 6	887					neuron projection morphogenesis (GO:0048812)|regulation of neuron migration (GO:2001222)		zinc ion binding (GO:0008270)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)	8						ACAGTTTGCCAGACATCACTC	0.433																																					p.P887P		Atlas-SNP	.											.	ZSWIM6	51	.	0			c.A2661G						.						146.0	115.0	124.0					5																	60835544		692	1591	2283	SO:0001819	synonymous_variant	57688	exon12			TTTGCCAGACATC	BC039438	CCDS47215.1	5q12.1	2011-03-17			ENSG00000130449	ENSG00000130449		"""Zinc fingers, SWIM-type"""	29316	protein-coding gene	gene with protein product		615951				10997877, 16427614	Standard	NM_020928		Approved	KIAA1577	uc003jsr.3	Q9HCJ5	OTTHUMG00000162388	ENST00000252744.5:c.2661A>G	chr5.hg19:g.60835544A>G		139.0	0.0		98.0	5.0	NM_020928		Silent	SNP	ENST00000252744.5	hg19	CCDS47215.1																																																																																			.	.		0.433	ZSWIM6-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368710.1	NM_020928	
ZSWIM6	57688	hgsc.bcm.edu	37	5	60839556	60839556	+	Silent	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr5:60839556T>C	ENST00000252744.5	+	14	3060	c.3060T>C	c.(3058-3060)gcT>gcC	p.A1020A		NM_020928.1	NP_065979.1	Q9HCJ5	ZSWM6_HUMAN	zinc finger, SWIM-type containing 6	1020					neuron projection morphogenesis (GO:0048812)|regulation of neuron migration (GO:2001222)		zinc ion binding (GO:0008270)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)	8						TTCTCGACGCTGCTACGACTG	0.537																																					p.A1020A		Atlas-SNP	.											.	ZSWIM6	51	.	0			c.T3060C						.						46.0	43.0	44.0					5																	60839556		692	1591	2283	SO:0001819	synonymous_variant	57688	exon14			CGACGCTGCTACG	BC039438	CCDS47215.1	5q12.1	2011-03-17			ENSG00000130449	ENSG00000130449		"""Zinc fingers, SWIM-type"""	29316	protein-coding gene	gene with protein product		615951				10997877, 16427614	Standard	NM_020928		Approved	KIAA1577	uc003jsr.3	Q9HCJ5	OTTHUMG00000162388	ENST00000252744.5:c.3060T>C	chr5.hg19:g.60839556T>C		70.0	0.0		60.0	4.0	NM_020928		Silent	SNP	ENST00000252744.5	hg19	CCDS47215.1																																																																																			.	.		0.537	ZSWIM6-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368710.1	NM_020928	
CRHBP	1393	hgsc.bcm.edu	37	5	76249911	76249911	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr5:76249911A>G	ENST00000274368.4	+	3	655	c.233A>G	c.(232-234)cAg>cGg	p.Q78R	CRHBP_ENST00000506501.1_Missense_Mutation_p.Q78R	NM_001882.3	NP_001873.2	P24387	CRHBP_HUMAN	corticotropin releasing hormone binding protein	78					behavioral response to ethanol (GO:0048149)|cellular response to calcium ion (GO:0071277)|cellular response to cAMP (GO:0071320)|cellular response to cocaine (GO:0071314)|cellular response to drug (GO:0035690)|cellular response to estradiol stimulus (GO:0071392)|cellular response to estrogen stimulus (GO:0071391)|cellular response to gonadotropin-releasing hormone (GO:0097211)|cellular response to potassium ion (GO:0035865)|cellular response to stress (GO:0033554)|cellular response to tumor necrosis factor (GO:0071356)|female pregnancy (GO:0007565)|hormone metabolic process (GO:0042445)|hormone-mediated signaling pathway (GO:0009755)|inflammatory response (GO:0006954)|learning or memory (GO:0007611)|maternal aggressive behavior (GO:0002125)|negative regulation of corticotropin secretion (GO:0051460)|negative regulation of corticotropin-releasing hormone receptor activity (GO:1900011)|regulated secretory pathway (GO:0045055)|regulation of corticotropin secretion (GO:0051459)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|signal transduction (GO:0007165)|synaptic transmission, dopaminergic (GO:0001963)	axon terminus (GO:0043679)|dendrite (GO:0030425)|dense core granule (GO:0031045)|extracellular space (GO:0005615)|intracellular (GO:0005622)|microtubule (GO:0005874)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|perikaryon (GO:0043204)|secondary lysosome (GO:0005767)|secretory granule (GO:0030141)|varicosity (GO:0043196)	corticotropin-releasing hormone binding (GO:0051424)|peptide binding (GO:0042277)			kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-51)|Epithelial(54;8.79e-46)|all cancers(79;2.49e-41)		GACCGGCCGCAGCTGCACTGC	0.642																																					p.Q78R		Atlas-SNP	.											.	CRHBP	46	.	0			c.A233G						.						55.0	61.0	59.0					5																	76249911		2203	4300	6503	SO:0001583	missense	1393	exon3			GGCCGCAGCTGCA	X58022	CCDS4034.1	5q	2008-07-18	2001-11-28		ENSG00000145708	ENSG00000145708			2356	protein-coding gene	gene with protein product		122559	"""corticotropin releasing hormone-binding protein"""			8198617	Standard	NM_001882		Approved	CRF-BP, CRFBP	uc003ker.3	P24387	OTTHUMG00000102133	ENST00000274368.4:c.233A>G	chr5.hg19:g.76249911A>G	ENSP00000274368:p.Gln78Arg	190.0	0.0		99.0	5.0	NM_001882	Q53F32|Q6FHT5	Missense_Mutation	SNP	ENST00000274368.4	hg19	CCDS4034.1	.	.	.	.	.	.	.	.	.	.	A	15.35	2.807746	0.50421	.	.	ENSG00000145708	ENST00000274368;ENST00000506501	T;T	0.59638	0.25;0.25	4.01	2.84	0.33178	CUB (1);	0.123081	0.56097	N	0.000027	T	0.49029	0.1533	L	0.50919	1.6	0.54753	D	0.999982	B;B	0.15473	0.013;0.004	B;B	0.20955	0.032;0.007	T	0.43702	-0.9375	10	0.44086	T	0.13	-4.3081	9.3649	0.38219	0.9132:0.0:0.0868:0.0	.	78;78	D6RHH7;P24387	.;CRHBP_HUMAN	R	78	ENSP00000274368:Q78R;ENSP00000426097:Q78R	ENSP00000274368:Q78R	Q	+	2	0	CRHBP	76285667	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.803000	0.75180	0.701000	0.31803	0.379000	0.24179	CAG	.	.		0.642	CRHBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219972.2	NM_001882	
FAM151B	167555	hgsc.bcm.edu	37	5	79809580	79809580	+	Silent	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr5:79809580T>C	ENST00000282226.4	+	3	464	c.309T>C	c.(307-309)gaT>gaC	p.D103D	FAM151B_ENST00000511718.1_3'UTR	NM_205548.2	NP_991111.2	Q6UXP7	F151B_HUMAN	family with sequence similarity 151, member B	103										breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	7		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;8.21e-47)|Epithelial(54;8.3e-42)|all cancers(79;1.97e-36)		TCAAGCTGGATTTCAAAAGGT	0.373																																					p.D103D		Atlas-SNP	.											.	FAM151B	25	.	0			c.T309C						.						73.0	70.0	71.0					5																	79809580		2203	4300	6503	SO:0001819	synonymous_variant	167555	exon3			GCTGGATTTCAAA		CCDS4051.1	5q14.1	2007-12-18	2007-12-18		ENSG00000152380	ENSG00000152380			33716	protein-coding gene	gene with protein product							Standard	NM_205548		Approved	UNQ9217	uc003kgv.2	Q6UXP7	OTTHUMG00000131303	ENST00000282226.4:c.309T>C	chr5.hg19:g.79809580T>C		108.0	0.0		89.0	4.0	NM_205548	A2RRE4	Silent	SNP	ENST00000282226.4	hg19	CCDS4051.1																																																																																			.	.		0.373	FAM151B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254072.1	NM_205548	
VCAN	1462	hgsc.bcm.edu	37	5	82833999	82833999	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr5:82833999A>G	ENST00000265077.3	+	8	5742	c.5177A>G	c.(5176-5178)aAg>aGg	p.K1726R	VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000343200.5_Missense_Mutation_p.K739R|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1726	GAG-beta.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	AAGAAAAGGAAGGAGGAGGAG	0.408																																					p.K1726R		Atlas-SNP	.											.	VCAN	498	.	0			c.A5177G						.						83.0	86.0	85.0					5																	82833999		2201	4300	6501	SO:0001583	missense	1462	exon8			AAAGGAAGGAGGA	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.5177A>G	chr5.hg19:g.82833999A>G	ENSP00000265077:p.Lys1726Arg	48.0	0.0		71.0	4.0	NM_004385	P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	hg19	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	A	13.65	2.301347	0.40694	.	.	ENSG00000038427	ENST00000265077;ENST00000343200;ENST00000513960	D;D;T	0.85411	-1.95;-1.98;3.17	5.96	4.76	0.60689	.	0.816378	0.11310	N	0.577186	T	0.75817	0.3901	L	0.29908	0.895	0.20307	N	0.999916	P;P	0.41848	0.763;0.651	B;B	0.36608	0.229;0.115	T	0.63501	-0.6623	10	0.19147	T	0.46	.	12.1863	0.54241	0.8583:0.1416:0.0:0.0	.	739;1726	P13611-2;P13611	.;CSPG2_HUMAN	R	1726;739;739	ENSP00000265077:K1726R;ENSP00000340062:K739R;ENSP00000426251:K739R	ENSP00000265077:K1726R	K	+	2	0	VCAN	82869755	0.000000	0.05858	0.004000	0.12327	0.025000	0.11179	0.666000	0.25097	2.285000	0.76669	0.533000	0.62120	AAG	.	.		0.408	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385	
DCP2	167227	hgsc.bcm.edu	37	5	112349076	112349076	+	Silent	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr5:112349076A>G	ENST00000389063.2	+	11	1356	c.1158A>G	c.(1156-1158)ggA>ggG	p.G386G	DCP2_ENST00000543319.1_Silent_p.G175G|DCP2_ENST00000515408.1_Silent_p.G351G	NM_152624.5	NP_689837	Q8IU60	DCP2_HUMAN	decapping mRNA 2	386					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|nucleus (GO:0005634)|RISC complex (GO:0016442)	exoribonuclease activity, producing 5'-phosphomonoesters (GO:0016896)|m7G(5')pppN diphosphatase activity (GO:0050072)|manganese ion binding (GO:0030145)|RNA binding (GO:0003723)			endometrium(3)|large_intestine(6)|lung(1)	10		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)		OV - Ovarian serous cystadenocarcinoma(64;6.98e-08)|Epithelial(69;7.87e-08)|all cancers(49;1.06e-05)|COAD - Colon adenocarcinoma(37;0.0123)|Colorectal(14;0.0171)		ATGCTGAGGGACAGCCCGTGG	0.398																																					p.G386G		Atlas-SNP	.											.	DCP2	34	.	0			c.A1158G						.						190.0	168.0	176.0					5																	112349076		2202	4300	6502	SO:0001819	synonymous_variant	167227	exon11			TGAGGGACAGCCC	AY135173	CCDS34210.1, CCDS56377.1	5q22	2013-05-02	2013-05-02		ENSG00000172795	ENSG00000172795	3.6.1.62	"""Nudix motif containing"""	24452	protein-coding gene	gene with protein product	"""nudix (nucleoside diphosphate linked moiety X)-type motif 20"", ""M(7)GpppN-mRNA hydrolase"""	609844	"""DCP2 decapping enzyme homolog (S. cerevisiae)"""			12218187, 12417715	Standard	NM_152624		Approved	NUDT20	uc003kqh.3	Q8IU60	OTTHUMG00000162853	ENST00000389063.2:c.1158A>G	chr5.hg19:g.112349076A>G		125.0	0.0		71.0	4.0	NM_152624	C9J778|Q6P2D4|Q7Z5W5|Q8NBG5	Silent	SNP	ENST00000389063.2	hg19	CCDS34210.1	.	.	.	.	.	.	.	.	.	.	a	2.568	-0.300291	0.05532	.	.	ENSG00000172795	ENST00000513585	.	.	.	5.83	-0.778	0.10977	.	.	.	.	.	T	0.42607	0.1210	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	T	0.25710	-1.0124	4	.	.	.	0.8466	2.8914	0.05677	0.463:0.1175:0.3154:0.1041	.	.	.	.	A	368	.	.	T	+	1	0	DCP2	112376975	0.988000	0.35896	0.786000	0.31890	0.258000	0.26162	0.288000	0.18939	-0.078000	0.12730	0.451000	0.29950	ACA	.	.		0.398	DCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370765.3	NM_152624	
PRRC1	133619	hgsc.bcm.edu	37	5	126866068	126866068	+	Missense_Mutation	SNP	C	C	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr5:126866068C>A	ENST00000296666.8	+	5	925	c.737C>A	c.(736-738)cCt>cAt	p.P246H	PRRC1_ENST00000442138.2_Missense_Mutation_p.P246H|PRRC1_ENST00000512635.2_Missense_Mutation_p.P246H	NM_130809.3	NP_570721.1	Q96M27	PRRC1_HUMAN	proline-rich coiled-coil 1	246						Golgi apparatus (GO:0005794)				endometrium(1)|large_intestine(1)|lung(4)	6		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0851)|Epithelial(69;0.113)		ACGCTGGACCCTGGCATGGCT	0.408																																					p.P246H		Atlas-SNP	.											.	PRRC1	22	.	0			c.C737A						.						108.0	102.0	104.0					5																	126866068		2203	4300	6503	SO:0001583	missense	133619	exon5			TGGACCCTGGCAT	AJ515429	CCDS4143.1, CCDS68943.1	5q23.2	2008-02-05			ENSG00000164244	ENSG00000164244			28164	protein-coding gene	gene with protein product						15541471	Standard	NM_130809		Approved	FLJ32875	uc003kuk.3	Q96M27	OTTHUMG00000128982	ENST00000296666.8:c.737C>A	chr5.hg19:g.126866068C>A	ENSP00000296666:p.Pro246His	79.0	0.0		59.0	4.0	NM_130809	Q69YM8|Q7L2U7|Q86Y42|Q8IVJ4|Q8IVL4|Q8NEZ7|Q96AJ3	Missense_Mutation	SNP	ENST00000296666.8	hg19	CCDS4143.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.757126	0.89843	.	.	ENSG00000164244	ENST00000296666;ENST00000442138;ENST00000330542;ENST00000414018;ENST00000512635;ENST00000512535	.	.	.	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.79621	0.4477	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.984;0.998	T	0.81703	-0.0812	9	0.87932	D	0	-18.0015	17.8281	0.88672	0.0:1.0:0.0:0.0	.	246;246	Q96M27;Q96M27-5	PRRC1_HUMAN;.	H	246	.	ENSP00000296666:P246H	P	+	2	0	PRRC1	126893967	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.596000	0.82721	2.683000	0.91414	0.655000	0.94253	CCT	.	.		0.408	PRRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250971.3	NM_130809	
FBN2	2201	hgsc.bcm.edu	37	5	127800501	127800501	+	Missense_Mutation	SNP	C	C	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr5:127800501C>T	ENST00000508053.1	-	12	1716	c.742G>A	c.(742-744)Ggc>Agc	p.G248S	FBN2_ENST00000508989.1_Missense_Mutation_p.G215S|FBN2_ENST00000262464.4_Missense_Mutation_p.G248S			P35556	FBN2_HUMAN	fibrillin 2	248	TB 1.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CAGGGATGGCCCCACGCCCGT	0.602																																					p.G248S		Atlas-SNP	.											.	FBN2	858	.	0			c.G742A						.						91.0	83.0	86.0					5																	127800501		2203	4300	6503	SO:0001583	missense	2201	exon6			GATGGCCCCACGC	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.742G>A	chr5.hg19:g.127800501C>T	ENSP00000424571:p.Gly248Ser	110.0	0.0		93.0	4.0	NM_001999	B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	hg19	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	C	34	5.357249	0.95854	.	.	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000508989;ENST00000502468	D;D;D;D	0.97710	-4.5;-4.5;-4.5;-4.5	4.82	4.82	0.62117	Matrix fibril-associated (3);TGF-beta binding (1);	0.000000	0.64402	D	0.000002	D	0.98429	0.9477	M	0.72894	2.215	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;0.999;0.999	D	0.98048	1.0386	10	0.31617	T	0.26	.	18.7725	0.91898	0.0:1.0:0.0:0.0	.	215;248;215;248	P35556-2;E9PHW4;D6RJI3;P35556	.;.;.;FBN2_HUMAN	S	248;248;215;248	ENSP00000262464:G248S;ENSP00000424571:G248S;ENSP00000425596:G215S;ENSP00000424753:G248S	ENSP00000262464:G248S	G	-	1	0	FBN2	127828400	1.000000	0.71417	1.000000	0.80357	0.822000	0.46500	7.729000	0.84864	2.608000	0.88229	0.484000	0.47621	GGC	.	.		0.602	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999	
PROB1	389333	hgsc.bcm.edu	37	5	138730638	138730638	+	Missense_Mutation	SNP	C	C	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr5:138730638C>T	ENST00000434752.2	-	1	247	c.133G>A	c.(133-135)Gac>Aac	p.D45N		NM_001161546.1	NP_001155018.1	E7EW31	PROB1_HUMAN	proline-rich basic protein 1	45	Pro-rich.																GGCCCAACGTCCGGGGGCTCC	0.731																																					p.D45N		Atlas-SNP	.											.	.	.	.	0			c.G133A						.						1.0	3.0	2.0					5																	138730638		341	1071	1412	SO:0001583	missense	389333	exon1			CAACGTCCGGGGG	AK316483	CCDS54909.1	5q31.2	2012-10-01	2012-10-01	2012-10-01	ENSG00000228672	ENSG00000228672			41906	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 65"""	C5orf65			Standard	NM_001161546		Approved		uc011czc.1	E7EW31		ENST00000434752.2:c.133G>A	chr5.hg19:g.138730638C>T	ENSP00000416033:p.Asp45Asn	114.0	0.0		95.0	4.0	NM_001161546	B4E007	Missense_Mutation	SNP	ENST00000434752.2	hg19	CCDS54909.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.063570	0.76187	.	.	ENSG00000228672	ENST00000434752	.	.	.	4.45	3.53	0.40419	.	.	.	.	.	T	0.35913	0.0948	L	0.32530	0.975	0.25471	N	0.987827	D	0.54964	0.969	P	0.52758	0.708	T	0.14392	-1.0474	8	0.87932	D	0	.	6.1358	0.20233	0.0:0.7045:0.1919:0.1036	.	45	E7EW31	CE065_HUMAN	N	45	.	ENSP00000416033:D45N	D	-	1	0	AC135457.1	138758537	0.457000	0.25752	0.997000	0.53966	0.971000	0.66376	0.730000	0.26043	2.302000	0.77476	0.462000	0.41574	GAC	.	.		0.731	PROB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000470735.1	NM_001161546	
PCDHB2	56133	hgsc.bcm.edu	37	5	140475117	140475117	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr5:140475117T>C	ENST00000194155.4	+	1	891	c.743T>C	c.(742-744)cTc>cCc	p.L248P		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	248					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCAAAGCTGCTCTATGAGGTG	0.537																																					p.L248P		Atlas-SNP	.											.	PCDHB2	163	.	0			c.T743C						.						57.0	59.0	58.0					5																	140475117		2203	4300	6503	SO:0001583	missense	56133	exon1			AGCTGCTCTATGA	AF152495	CCDS4244.1	5q31	2010-01-26			ENSG00000112852	ENSG00000112852		"""Cadherins / Protocadherins : Clustered"""	8687	other	protocadherin		606328				10380929	Standard	NM_018936		Approved	PCDH-BETA2	uc003lil.3	Q9Y5E7	OTTHUMG00000129606	ENST00000194155.4:c.743T>C	chr5.hg19:g.140475117T>C	ENSP00000194155:p.Leu248Pro	82.0	0.0		83.0	4.0	NM_018936	Q4KMU1	Missense_Mutation	SNP	ENST00000194155.4	hg19	CCDS4244.1	.	.	.	.	.	.	.	.	.	.	T	8.394	0.840370	0.16891	.	.	ENSG00000112852	ENST00000194155	T	0.61392	0.11	5.42	-0.518	0.11943	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.41949	0.1181	L	0.37750	1.13	0.09310	N	0.999999	B	0.19817	0.039	B	0.18263	0.021	T	0.27088	-1.0084	9	0.31617	T	0.26	.	6.677	0.23100	0.3262:0.0:0.2217:0.4521	.	248	Q9Y5E7	PCDB2_HUMAN	P	248	ENSP00000194155:L248P	ENSP00000194155:L248P	L	+	2	0	PCDHB2	140455301	0.000000	0.05858	0.499000	0.27577	0.971000	0.66376	0.080000	0.14802	0.059000	0.16252	-0.313000	0.08912	CTC	.	.		0.537	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251801.2	NM_018936	
PCDHGA10	56106	hgsc.bcm.edu	37	5	140793433	140793433	+	Missense_Mutation	SNP	C	C	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr5:140793433C>T	ENST00000398610.2	+	1	691	c.691C>T	c.(691-693)Ctt>Ttt	p.L231F	PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1	Q9Y5H3	PCDGA_HUMAN	protocadherin gamma subfamily A, 10	231	Cadherin 2. {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(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGCACTGTCCTTGTCAGTGT	0.577																																					p.L231F		Atlas-SNP	.											PCDHGA10,colon,carcinoma,0,1	PCDHGA10	114	.	0			c.C691T						.						43.0	47.0	46.0					5																	140793433		2066	4213	6279	SO:0001583	missense	56106	exon1			ACTGTCCTTGTCA		CCDS47292.1, CCDS75343.1	5q31	2010-01-26			ENSG00000253846	ENSG00000253846		"""Cadherins / Protocadherins : Clustered"""	8697	other	protocadherin		606297				10380929	Standard	NM_018913		Approved	PCDH-GAMMA-A10		Q9Y5H3	OTTHUMG00000163688	ENST00000398610.2:c.691C>T	chr5.hg19:g.140793433C>T	ENSP00000381611:p.Leu231Phe	28.0	0.0		53.0	3.0	NM_032090	Q9Y5E0	Missense_Mutation	SNP	ENST00000398610.2	hg19	CCDS47292.1	.	.	.	.	.	.	.	.	.	.	c	14.44	2.537259	0.45176	.	.	ENSG00000253846	ENST00000398610	T	0.01804	4.63	5.54	5.54	0.83059	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.05593	0.0147	M	0.62209	1.925	0.20074	N	0.999938	B;B	0.30406	0.235;0.278	B;B	0.41917	0.254;0.37	T	0.13415	-1.0510	9	0.62326	D	0.03	.	14.9519	0.71080	0.2084:0.7916:0.0:0.0	.	231;231	Q9Y5H3-2;Q9Y5H3	.;PCDGA_HUMAN	F	231	ENSP00000381611:L231F	ENSP00000381611:L231F	L	+	1	0	PCDHGA10	140773617	0.000000	0.05858	0.975000	0.42487	0.654000	0.38779	-0.137000	0.10389	2.619000	0.88677	0.557000	0.71058	CTT	.	.		0.577	PCDHGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374747.1	NM_018913	
DIAPH1	1729	hgsc.bcm.edu	37	5	140908052	140908052	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr5:140908052T>C	ENST00000398557.4	-	23	3256	c.3116A>G	c.(3115-3117)gAc>gGc	p.D1039G	DIAPH1_ENST00000494967.1_5'Flank|DIAPH1_ENST00000520569.1_Missense_Mutation_p.D982G|DIAPH1_ENST00000518047.1_Missense_Mutation_p.D1027G|DIAPH1_ENST00000389057.5_Missense_Mutation_p.D1030G|DIAPH1_ENST00000253811.6_Missense_Mutation_p.D1040G|DIAPH1_ENST00000398566.3_Missense_Mutation_p.D1031G|DIAPH1_ENST00000389054.3_Missense_Mutation_p.D1036G|DIAPH1_ENST00000398562.2_Missense_Mutation_p.D1015G	NM_005219.4	NP_005210.3	O60610	DIAP1_HUMAN	diaphanous-related formin 1	1039	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin filament polymerization (GO:0030041)|cellular response to histamine (GO:0071420)|cytoskeleton organization (GO:0007010)|positive regulation of cell migration (GO:0030335)|protein localization to microtubule (GO:0035372)|regulation of cell shape (GO:0008360)|regulation of microtubule-based process (GO:0032886)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|mitotic spindle (GO:0072686)|ruffle membrane (GO:0032587)	ion channel binding (GO:0044325)|poly(A) RNA binding (GO:0044822)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCAAGCTCGTCTGGAAACTT	0.498																																					p.D1039G		Atlas-SNP	.											.	DIAPH1	64	.	0			c.A3116G						.						86.0	82.0	83.0					5																	140908052		1952	4151	6103	SO:0001583	missense	1729	exon23			AGCTCGTCTGGAA	BC007411		5q31	2013-05-24	2013-05-24		ENSG00000131504	ENSG00000131504			2876	protein-coding gene	gene with protein product		602121	"""diaphanous (Drosophila, homolog) 1"", ""diaphanous homolog 1 (Drosophila)"""	DFNA1		9360932, 1350680	Standard	NM_005219		Approved	hDIA1, LFHL1	uc003llb.4	O60610	OTTHUMG00000149893	ENST00000398557.4:c.3116A>G	chr5.hg19:g.140908052T>C	ENSP00000381565:p.Asp1039Gly	134.0	0.0		99.0	4.0	NM_005219	A6NF18|B7ZKW2|E9PEZ2|Q17RN4|Q59FH8|Q9UC76	Missense_Mutation	SNP	ENST00000398557.4	hg19	CCDS43374.1	.	.	.	.	.	.	.	.	.	.	T	19.84	3.902274	0.72754	.	.	ENSG00000131504	ENST00000389054;ENST00000520569;ENST00000398562;ENST00000389057;ENST00000398566;ENST00000398557;ENST00000253811;ENST00000518047	T;T;T;T;T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12;-0.12;-0.12;-0.12;-0.12	5.66	5.66	0.87406	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.059479	0.64402	D	0.000006	T	0.77698	0.4169	M	0.78637	2.42	0.80722	D	1	D;P;P	0.59767	0.986;0.953;0.953	D;P;P	0.63381	0.914;0.746;0.746	T	0.80641	-0.1292	10	0.66056	D	0.02	.	14.8844	0.70557	0.0:0.0:0.0:1.0	.	982;1030;1039	E7ERW8;E9PEZ2;O60610	.;.;DIAP1_HUMAN	G	1036;982;1015;1030;1031;1039;1040;1027	ENSP00000373706:D1036G;ENSP00000429282:D982G;ENSP00000381570:D1015G;ENSP00000373709:D1030G;ENSP00000381572:D1031G;ENSP00000381565:D1039G;ENSP00000253811:D1040G;ENSP00000428268:D1027G	ENSP00000253811:D1040G	D	-	2	0	DIAPH1	140888236	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	6.301000	0.72782	2.158000	0.67659	0.383000	0.25322	GAC	.	.		0.498	DIAPH1-203	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_005219	
DPYSL3	1809	hgsc.bcm.edu	37	5	146773671	146773671	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr5:146773671T>C	ENST00000398514.3	-	14	2011	c.1640A>G	c.(1639-1641)gAg>gGg	p.E547G	DPYSL3_ENST00000534907.1_Missense_Mutation_p.E173G|DPYSL3_ENST00000343218.5_Missense_Mutation_p.E661G	NM_001387.2	NP_001378.1	Q14195	DPYL3_HUMAN	dihydropyrimidinase-like 3	547					actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cell migration (GO:0030336)|negative regulation of neuron projection development (GO:0010977)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron projection development (GO:0010976)|protein homooligomerization (GO:0051260)|pyrimidine nucleobase catabolic process (GO:0006208)|response to axon injury (GO:0048678)	cell body (GO:0044297)|cytosol (GO:0005829)|extracellular space (GO:0005615)|filamentous actin (GO:0031941)|growth cone (GO:0030426)|lamellipodium (GO:0030027)	chondroitin sulfate binding (GO:0035374)|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)|SH3 domain binding (GO:0017124)			breast(2)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGAACCCCCTCATCCACTTG	0.537																																					p.E661G		Atlas-SNP	.											.	DPYSL3	58	.	0			c.A1982G						.						50.0	52.0	51.0					5																	146773671		1831	4086	5917	SO:0001583	missense	1809	exon14			ACCCCCTCATCCA	D78014	CCDS43381.1, CCDS56387.1	5q32	2008-02-05							3015	protein-coding gene	gene with protein product		601168				8973361, 9115293	Standard	NM_001197294		Approved	DRP-3, ULIP, CRMP4	uc003loo.3	Q14195		ENST00000398514.3:c.1640A>G	chr5.hg19:g.146773671T>C	ENSP00000381526:p.Glu547Gly	94.0	0.0		113.0	6.0	NM_001197294	B3SXQ8|Q93012	Missense_Mutation	SNP	ENST00000398514.3	hg19	CCDS43381.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.37|13.37	2.217898|2.217898	0.39201|0.39201	.|.	.|.	ENSG00000113657|ENSG00000113657	ENST00000398514;ENST00000343218;ENST00000534907|ENST00000520473	D;D;T|.	0.86097|.	-2.07;-2.06;-0.87|.	5.42|5.42	5.42|5.42	0.78866|0.78866	.|.	0.095342|.	0.64402|.	D|.	0.000001|.	T|.	0.57080|.	0.2029|.	L|L	0.34521|0.34521	1.04|1.04	0.58432|0.58432	D|D	0.999999|0.999999	B;B|.	0.28350|.	0.208;0.001|.	B;B|.	0.31946|.	0.138;0.002|.	T|.	0.54036|.	-0.8353|.	10|.	0.66056|.	D|.	0.02|.	-3.3678|-3.3678	15.4677|15.4677	0.75416|0.75416	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	661;547|.	B3SXQ8;Q14195|.	.;DPYL3_HUMAN|.	G|W	547;661;173|185	ENSP00000381526:E547G;ENSP00000343690:E661G;ENSP00000441819:E173G|.	ENSP00000343690:E661G|.	E|X	-|-	2|3	0|0	DPYSL3|DPYSL3	146753864|146753864	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.124000|0.124000	0.20399|0.20399	7.562000|7.562000	0.82300|0.82300	2.053000|2.053000	0.61076|0.61076	0.459000|0.459000	0.35465|0.35465	GAG|TGA	.	.		0.537	DPYSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373421.2	NM_001387	
CSF1R	1436	hgsc.bcm.edu	37	5	149434853	149434853	+	Silent	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr5:149434853T>C	ENST00000286301.3	-	20	2892	c.2601A>G	c.(2599-2601)aaA>aaG	p.K867K		NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	867	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell proliferation (GO:0008283)|cell-cell junction maintenance (GO:0045217)|cellular response to cytokine stimulus (GO:0071345)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cytokine-mediated signaling pathway (GO:0019221)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage differentiation (GO:0030225)|mammary gland duct morphogenesis (GO:0060603)|monocyte differentiation (GO:0030224)|multicellular organismal development (GO:0007275)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell motility (GO:2000147)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of bone resorption (GO:0045124)|regulation of cell shape (GO:0008360)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|macrophage colony-stimulating factor receptor activity (GO:0005011)|protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	CCTTCACCAGTTTATAGAACT	0.527																																					p.K867K		Atlas-SNP	.											.	CSF1R	250	.	0			c.A2601G						.						127.0	112.0	117.0					5																	149434853		2203	4300	6503	SO:0001819	synonymous_variant	1436	exon20			CACCAGTTTATAG	U63963	CCDS4302.1	5q32	2013-01-11	2008-08-01		ENSG00000182578	ENSG00000182578		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	2433	protein-coding gene	gene with protein product		164770	"""McDonough feline sarcoma viral (v-fms) oncogene homolog"""	FMS		1611909	Standard	NM_005211		Approved	C-FMS, CSFR, CD115	uc003lrm.3	P07333	OTTHUMG00000130050	ENST00000286301.3:c.2601A>G	chr5.hg19:g.149434853T>C		101.0	0.0		89.0	4.0	NM_005211	B5A955|D3DQG2|Q6LDW5|Q6LDY4|Q86VW7	Silent	SNP	ENST00000286301.3	hg19	CCDS4302.1																																																																																			.	.		0.527	CSF1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252329.2	NM_005211	
CSF1R	1436	hgsc.bcm.edu	37	5	149459693	149459693	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr5:149459693T>C	ENST00000286301.3	-	4	805	c.514A>G	c.(514-516)Agc>Ggc	p.S172G	CSF1R_ENST00000543093.1_Missense_Mutation_p.S172G	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	172	Ig-like C2-type 2.				cell proliferation (GO:0008283)|cell-cell junction maintenance (GO:0045217)|cellular response to cytokine stimulus (GO:0071345)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cytokine-mediated signaling pathway (GO:0019221)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage differentiation (GO:0030225)|mammary gland duct morphogenesis (GO:0060603)|monocyte differentiation (GO:0030224)|multicellular organismal development (GO:0007275)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell motility (GO:2000147)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of bone resorption (GO:0045124)|regulation of cell shape (GO:0008360)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|macrophage colony-stimulating factor receptor activity (GO:0005011)|protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	TAGTCCTGGCTCTGAATGAAC	0.612																																					p.S172G		Atlas-SNP	.											.	CSF1R	250	.	0			c.A514G						.						85.0	68.0	74.0					5																	149459693		2203	4300	6503	SO:0001583	missense	1436	exon4			CCTGGCTCTGAAT	U63963	CCDS4302.1	5q32	2013-01-11	2008-08-01		ENSG00000182578	ENSG00000182578		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	2433	protein-coding gene	gene with protein product		164770	"""McDonough feline sarcoma viral (v-fms) oncogene homolog"""	FMS		1611909	Standard	NM_005211		Approved	C-FMS, CSFR, CD115	uc003lrm.3	P07333	OTTHUMG00000130050	ENST00000286301.3:c.514A>G	chr5.hg19:g.149459693T>C	ENSP00000286301:p.Ser172Gly	80.0	0.0		80.0	4.0	NM_005211	B5A955|D3DQG2|Q6LDW5|Q6LDY4|Q86VW7	Missense_Mutation	SNP	ENST00000286301.3	hg19	CCDS4302.1	.	.	.	.	.	.	.	.	.	.	T	6.013	0.370777	0.11409	.	.	ENSG00000182578	ENST00000286301;ENST00000394307;ENST00000543093;ENST00000511344	T;T	0.05717	3.4;3.4	4.44	1.82	0.25136	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.664574	0.13886	N	0.355924	T	0.03827	0.0108	N	0.19112	0.55	0.09310	N	1	B;B;B;B	0.23650	0.03;0.004;0.089;0.009	B;B;B;B	0.16722	0.003;0.0;0.016;0.003	T	0.45862	-0.9232	10	0.25106	T	0.35	.	5.8593	0.18736	0.0:0.0996:0.1657:0.7347	.	172;172;24;172	B4DG86;B5A955;B4E2Y8;P07333	.;.;.;CSF1R_HUMAN	G	172;24;172;24	ENSP00000286301:S172G;ENSP00000445282:S172G	ENSP00000286301:S172G	S	-	1	0	CSF1R	149439886	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.044000	0.13992	0.119000	0.18210	-1.447000	0.01057	AGC	.	.		0.612	CSF1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252329.2	NM_005211	
SYNPO	11346	hgsc.bcm.edu	37	5	150029768	150029768	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr5:150029768A>G	ENST00000394243.1	+	3	3037	c.2663A>G	c.(2662-2664)gAc>gGc	p.D888G	SYNPO_ENST00000522122.1_Missense_Mutation_p.D888G|SYNPO_ENST00000307662.4_Missense_Mutation_p.D644G|SYNPO_ENST00000519664.1_Missense_Mutation_p.D644G	NM_001166208.1	NP_001159680.1	Q8N3V7	SYNPO_HUMAN	synaptopodin	888	Pro-rich.				positive regulation of actin filament bundle assembly (GO:0032233)|regulation of stress fiber assembly (GO:0051492)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic membrane (GO:0045211)|stress fiber (GO:0001725)|tight junction (GO:0005923)	actin binding (GO:0003779)			NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TACGGCGGTGACATCTCCCCC	0.716																																					p.D888G		Atlas-SNP	.											.	SYNPO	147	.	0			c.A2663G						.						47.0	52.0	51.0					5																	150029768		2203	4299	6502	SO:0001583	missense	11346	exon3			GCGGTGACATCTC	AF499137	CCDS4308.1, CCDS54937.1, CCDS54938.1	5q33.1	2008-02-05			ENSG00000171992	ENSG00000171992			30672	protein-coding gene	gene with protein product		608155				9314539, 10470851	Standard	NM_007286		Approved	KIAA1029	uc003lsn.3	Q8N3V7	OTTHUMG00000130078	ENST00000394243.1:c.2663A>G	chr5.hg19:g.150029768A>G	ENSP00000377789:p.Asp888Gly	140.0	0.0		142.0	6.0	NM_001166209	A5PKZ8|D3DQG8|O15271|Q9UPX1	Missense_Mutation	SNP	ENST00000394243.1	hg19	CCDS54937.1	.	.	.	.	.	.	.	.	.	.	A	6.935	0.542262	0.13250	.	.	ENSG00000171992	ENST00000394243;ENST00000522122;ENST00000307662;ENST00000519664	T;T;T	0.23348	1.91;1.91;1.92	5.55	5.55	0.83447	.	0.110951	0.39985	N	0.001216	T	0.23171	0.0560	L	0.51422	1.61	0.09310	N	1	B;B	0.24721	0.11;0.11	B;B	0.17433	0.018;0.018	T	0.16571	-1.0398	10	0.49607	T	0.09	-10.1984	9.4823	0.38908	0.918:0.0:0.082:0.0	.	644;888	Q8N3V7-2;Q8N3V7	.;SYNPO_HUMAN	G	888;888;644;644	ENSP00000377789:D888G;ENSP00000428378:D888G;ENSP00000429268:D644G	ENSP00000302139:D644G	D	+	2	0	SYNPO	150009961	1.000000	0.71417	0.174000	0.22961	0.341000	0.28922	4.596000	0.61055	2.113000	0.64589	0.459000	0.35465	GAC	.	.		0.716	SYNPO-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252371.1	NM_007286	
FAT2	2196	hgsc.bcm.edu	37	5	150946265	150946265	+	Missense_Mutation	SNP	T	T	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr5:150946265T>A	ENST00000261800.5	-	1	2240	c.2228A>T	c.(2227-2229)gAt>gTt	p.D743V		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	743	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAAACCAGCATCAGGGTCAGT	0.532																																					p.D743V		Atlas-SNP	.											.	FAT2	465	.	0			c.A2228T						.						70.0	75.0	74.0					5																	150946265		2203	4300	6503	SO:0001583	missense	2196	exon1			CCAGCATCAGGGT	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.2228A>T	chr5.hg19:g.150946265T>A	ENSP00000261800:p.Asp743Val	121.0	0.0		65.0	6.0	NM_001447	O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	hg19	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	T	18.54	3.646074	0.67358	.	.	ENSG00000086570	ENST00000261800	T	0.74737	-0.87	5.78	5.78	0.91487	Cadherin (4);Cadherin-like (1);	0.000000	0.64402	D	0.000002	D	0.92639	0.7661	H	0.99600	4.65	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95758	0.8798	10	0.87932	D	0	.	16.3979	0.83621	0.0:0.0:0.0:1.0	.	743	Q9NYQ8	FAT2_HUMAN	V	743	ENSP00000261800:D743V	ENSP00000261800:D743V	D	-	2	0	FAT2	150926458	1.000000	0.71417	0.595000	0.28798	0.900000	0.52787	7.932000	0.87634	2.333000	0.79357	0.533000	0.62120	GAT	.	.		0.532	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447	
FAM71B	153745	hgsc.bcm.edu	37	5	156590132	156590132	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr5:156590132T>C	ENST00000302938.4	-	2	1239	c.1144A>G	c.(1144-1146)Acc>Gcc	p.T382A		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	382						nucleus (GO:0005634)				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CACTTGCTGGTCGTAATACTG	0.567																																					p.T382A		Atlas-SNP	.											.	FAM71B	145	.	0			c.A1144G						.						46.0	48.0	47.0					5																	156590132		2203	4300	6503	SO:0001583	missense	153745	exon2			TGCTGGTCGTAAT		CCDS4335.1	5q33.3	2005-08-09			ENSG00000170613	ENSG00000170613			28397	protein-coding gene	gene with protein product						12477932	Standard	NM_130899		Approved	MGC26988	uc003lwn.3	Q8TC56	OTTHUMG00000130246	ENST00000302938.4:c.1144A>G	chr5.hg19:g.156590132T>C	ENSP00000305596:p.Thr382Ala	71.0	0.0		67.0	4.0	NM_130899	Q1EDD9|Q8TC64|Q96LY8	Missense_Mutation	SNP	ENST00000302938.4	hg19	CCDS4335.1	.	.	.	.	.	.	.	.	.	.	T	16.21	3.057600	0.55325	.	.	ENSG00000170613	ENST00000302938	T	0.16897	2.31	3.83	3.83	0.44106	.	0.314558	0.23165	N	0.051186	T	0.34919	0.0914	M	0.68317	2.08	0.09310	N	1	D	0.89917	1.0	D	0.71414	0.973	T	0.04229	-1.0967	10	0.51188	T	0.08	-18.4181	9.2849	0.37751	0.0:0.0:0.0:1.0	.	382	Q8TC56	FA71B_HUMAN	A	382	ENSP00000305596:T382A	ENSP00000305596:T382A	T	-	1	0	FAM71B	156522710	0.031000	0.19500	0.012000	0.15200	0.002000	0.02628	0.633000	0.24598	1.959000	0.56917	0.459000	0.35465	ACC	.	.		0.567	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252570.2	NM_130899	
FABP6	2172	hgsc.bcm.edu	37	5	159626128	159626128	+	Silent	SNP	G	G	T	rs146032989		TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr5:159626128G>T	ENST00000393980.4	+	2	161	c.15G>T	c.(13-15)acG>acT	p.T5T	CTB-127C13.1_ENST00000524005.1_RNA|FABP6_ENST00000393982.1_Silent_p.T5T|CTB-127C13.1_ENST00000501818.1_RNA	NM_001130958.1	NP_001124430.1	P51161	FABP6_HUMAN	fatty acid binding protein 6, ileal	0					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|lipid metabolic process (GO:0006629)|negative regulation of cell proliferation (GO:0008285)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	lipid binding (GO:0008289)|transporter activity (GO:0005215)			breast(1)|kidney(1)|large_intestine(1)|lung(2)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGACAGTGACGATGATGATGG	0.547											OREG0016998	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.T5T	Colon(29;562 677 12756 16385 20992)	Atlas-SNP	.											.	FABP6	37	.	0			c.G15T						.						66.0	76.0	73.0					5																	159626128		2195	4283	6478	SO:0001819	synonymous_variant	2172	exon2			AGTGACGATGATG	U19869	CCDS4349.1, CCDS43393.1	5q23-q35	2013-03-01	2008-08-01		ENSG00000170231	ENSG00000170231		"""Fatty acid binding protein family"""	3561	protein-coding gene	gene with protein product	"""illeal lipid-binding protein"", ""ileal bile acid binding protein"", ""gastrotropin"""	600422				7894165, 7619861	Standard	NM_001130958		Approved	I-15P, ILLBP, I-BAP, ILBP3, I-BABP, ILBP, I-BALB	uc003lxx.1	P51161	OTTHUMG00000130329	ENST00000393980.4:c.15G>T	chr5.hg19:g.159626128G>T		73.0	0.0	1802	45.0	4.0	NM_001130958	Q07DR7|Q8TBI3|Q9UGI7	Silent	SNP	ENST00000393980.4	hg19	CCDS43393.1																																																																																			.	G|1.000;A|0.000		0.547	FABP6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252678.4	NM_001040442	
GABRA1	2554	hgsc.bcm.edu	37	5	161292754	161292754	+	Missense_Mutation	SNP	T	T	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr5:161292754T>A	ENST00000428797.2	+	5	570	c.215T>A	c.(214-216)aTc>aAc	p.I72N	GABRA1_ENST00000393943.4_Missense_Mutation_p.I72N|GABRA1_ENST00000437025.2_Missense_Mutation_p.I72N|GABRA1_ENST00000420560.1_Missense_Mutation_p.I72N|GABRA1_ENST00000023897.6_Missense_Mutation_p.I72N|GABRA1_ENST00000444819.1_Missense_Mutation_p.I72N	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	72					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|drug binding (GO:0008144)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zaleplon(DB00962)|Zolpidem(DB00425)|Zopiclone(DB01198)	AAGACTGATATCTTCGTCACC	0.408																																					p.I72N		Atlas-SNP	.											.	GABRA1	132	.	0			c.T215A						.						207.0	186.0	193.0					5																	161292754		2203	4300	6503	SO:0001583	missense	2554	exon5			CTGATATCTTCGT		CCDS4357.1	5q34	2012-06-22			ENSG00000022355	ENSG00000022355		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4075	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 1"""	137160				1330891	Standard	NM_000806		Approved	EJM5	uc003lyx.4	P14867	OTTHUMG00000163586	ENST00000428797.2:c.215T>A	chr5.hg19:g.161292754T>A	ENSP00000393097:p.Ile72Asn	225.0	0.0		207.0	12.0	NM_001127643	D3DQK6|Q8N629	Missense_Mutation	SNP	ENST00000428797.2	hg19	CCDS4357.1	.	.	.	.	.	.	.	.	.	.	T	26.9	4.777259	0.90195	.	.	ENSG00000022355	ENST00000023897;ENST00000428797;ENST00000393943;ENST00000437025;ENST00000521339;ENST00000420560;ENST00000522651;ENST00000444819;ENST00000519621	T;T;T;T;T;T;T;T;T	0.81078	-1.45;-1.45;-1.45;-1.45;-1.26;-1.45;-1.26;-1.45;-1.45	5.33	5.33	0.75918	Neurotransmitter-gated ion-channel ligand-binding (3);	0.063724	0.64402	D	0.000006	D	0.91821	0.7412	H	0.94306	3.52	0.80722	D	1	D	0.57257	0.979	D	0.63703	0.917	D	0.94054	0.7320	10	0.87932	D	0	.	15.3028	0.73966	0.0:0.0:0.0:1.0	.	72	P14867	GBRA1_HUMAN	N	72;72;72;72;78;72;72;72;72	ENSP00000023897:I72N;ENSP00000393097:I72N;ENSP00000377517:I72N;ENSP00000415441:I72N;ENSP00000430895:I78N;ENSP00000408041:I72N;ENSP00000430507:I72N;ENSP00000414232:I72N;ENSP00000430435:I72N	ENSP00000023897:I72N	I	+	2	0	GABRA1	161225332	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.946000	0.87746	2.012000	0.59069	0.455000	0.32223	ATC	.	.		0.408	GABRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252702.2	NM_000806.5	
TENM2	57451	hgsc.bcm.edu	37	5	167489113	167489113	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr5:167489113T>C	ENST00000518659.1	+	7	1397	c.1358T>C	c.(1357-1359)gTt>gCt	p.V453A	TENM2_ENST00000520394.1_Missense_Mutation_p.V221A|TENM2_ENST00000403607.2_Missense_Mutation_p.V286A|TENM2_ENST00000545108.1_Missense_Mutation_p.V453A|TENM2_ENST00000519204.1_Missense_Mutation_p.V332A	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	453					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										GAAGCAGAAGTTGGTCGGCGG	0.453																																					p.V453A		Atlas-SNP	.											.	.	.	.	0			c.T1358C						.						83.0	84.0	84.0					5																	167489113		1857	4096	5953	SO:0001583	missense	57451	exon7			CAGAAGTTGGTCG	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.1358T>C	chr5.hg19:g.167489113T>C	ENSP00000429430:p.Val453Ala	91.0	0.0		89.0	4.0	NM_001122679	Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	hg19		.	.	.	.	.	.	.	.	.	.	T	18.26	3.585236	0.66105	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	T;T;T;T;T	0.27104	1.69;1.69;1.69;1.69;1.69	5.63	5.63	0.86233	.	0.127648	0.52532	D	0.000070	T	0.34571	0.0902	M	0.73962	2.25	0.43160	D	0.994945	B;B;B	0.33883	0.43;0.287;0.391	B;B;B	0.35182	0.129;0.079;0.197	T	0.22941	-1.0202	10	0.59425	D	0.04	.	15.8419	0.78852	0.0:0.0:0.0:1.0	.	453;221;332	Q9NT68;F8VNQ3;G3V106	TEN2_HUMAN;.;.	A	453;453;332;221;286	ENSP00000429430:V453A;ENSP00000438635:V453A;ENSP00000428964:V332A;ENSP00000427874:V221A;ENSP00000384905:V286A	ENSP00000384905:V286A	V	+	2	0	ODZ2	167421691	1.000000	0.71417	0.902000	0.35471	0.845000	0.48019	8.040000	0.89188	2.137000	0.66172	0.533000	0.62120	GTT	.	.		0.453	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679	
WWC1	23286	hgsc.bcm.edu	37	5	167835651	167835651	+	Nonsense_Mutation	SNP	C	C	A	rs377343643		TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr5:167835651C>A	ENST00000265293.4	+	7	1362	c.860C>A	c.(859-861)tCg>tAg	p.S287*	WWC1_ENST00000521089.1_Nonsense_Mutation_p.S287*	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	287					cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|hippo signaling (GO:0035329)|negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of MAPK cascade (GO:0043410)|regulation of hippo signaling (GO:0035330)|regulation of intracellular transport (GO:0032386)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		ACAGACATCTCGGGAAGCGTG	0.597																																					p.S287X		Atlas-SNP	.											.	WWC1	98	.	0			c.C860A						.						102.0	101.0	102.0					5																	167835651		2203	4300	6503	SO:0001587	stop_gained	23286	exon7			ACATCTCGGGAAG	AF506799	CCDS4366.1, CCDS54945.1	5q34	2014-06-13	2006-11-09		ENSG00000113645	ENSG00000113645		"""WW, C2 and coiled-coil domain containing"""	29435	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 168"""	610533	"""WW, C2 and coiled-coil domain containing 1"""			10048485, 12559952	Standard	NM_001161661		Approved	KIBRA, KIAA0869, PPP1R168	uc011den.2	Q8IX03	OTTHUMG00000130408	ENST00000265293.4:c.860C>A	chr5.hg19:g.167835651C>A	ENSP00000265293:p.Ser287*	66.0	0.0		66.0	4.0	NM_015238	B4DK05|O94946|Q6MZX4|Q6Y2F8|Q7Z4G8|Q8WVM4|Q9BT29	Nonsense_Mutation	SNP	ENST00000265293.4	hg19	CCDS4366.1	.	.	.	.	.	.	.	.	.	.	C	37	6.056848	0.97241	.	.	ENSG00000113645	ENST00000265293;ENST00000521089	.	.	.	5.22	5.22	0.72569	.	0.070853	0.64402	D	0.000015	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.7966	0.91997	0.0:1.0:0.0:0.0	.	.	.	.	X	287	.	ENSP00000265293:S287X	S	+	2	0	WWC1	167768229	1.000000	0.71417	0.956000	0.39512	0.728000	0.41692	7.291000	0.78721	2.427000	0.82271	0.655000	0.94253	TCG	.	.		0.597	WWC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252791.2	NM_015238	
DOCK2	1794	hgsc.bcm.edu	37	5	169508908	169508908	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr5:169508908A>G	ENST00000256935.8	+	51	5430	c.5350A>G	c.(5350-5352)Agc>Ggc	p.S1784G	DOCK2_ENST00000540750.1_Missense_Mutation_p.S845G|DOCK2_ENST00000520908.1_Missense_Mutation_p.S1276G|DOCK2_ENST00000523351.1_3'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1784					actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCCCCGCCTCAGCCAGACCTT	0.562																																					p.S1784G		Atlas-SNP	.											.	DOCK2	389	.	0			c.A5350G						.						106.0	96.0	99.0					5																	169508908		2203	4300	6503	SO:0001583	missense	1794	exon51			CGCCTCAGCCAGA	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.5350A>G	chr5.hg19:g.169508908A>G	ENSP00000256935:p.Ser1784Gly	126.0	0.0		95.0	30.0	NM_004946	Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	hg19	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	A	17.68	3.450522	0.63290	.	.	ENSG00000134516	ENST00000256935;ENST00000520908;ENST00000540750	T;T;T	0.10005	3.59;3.22;2.92	4.84	4.84	0.62591	.	0.196350	0.50627	D	0.000120	T	0.17323	0.0416	N	0.19112	0.55	0.29865	N	0.82731	D;D;D	0.69078	0.982;0.997;0.982	D;D;D	0.75020	0.952;0.985;0.952	T	0.04128	-1.0975	10	0.32370	T	0.25	.	12.6806	0.56920	1.0:0.0:0.0:0.0	.	1276;340;1784	E7ERW7;B3KY14;Q92608	.;.;DOCK2_HUMAN	G	1784;1276;845	ENSP00000256935:S1784G;ENSP00000429283:S1276G;ENSP00000438827:S845G	ENSP00000256935:S1784G	S	+	1	0	DOCK2	169441486	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.461000	0.66699	1.919000	0.55581	0.533000	0.62120	AGC	.	.		0.562	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946	
NSD1	64324	hgsc.bcm.edu	37	5	176721162	176721162	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr5:176721162T>C	ENST00000439151.2	+	23	6838	c.6793T>C	c.(6793-6795)Tcc>Ccc	p.S2265P	NSD1_ENST00000354179.4_Missense_Mutation_p.S1996P|NSD1_ENST00000347982.4_Missense_Mutation_p.S1996P|NSD1_ENST00000361032.4_Missense_Mutation_p.S2162P	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	2265	Pro-rich.				gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		GCTGTCGCTCTCCAAAAAAGC	0.522			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																											p.S2265P		Atlas-SNP	.		Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	.	NSD1	416	.	0			c.T6793C						.						93.0	97.0	96.0					5																	176721162		2203	4300	6503	SO:0001583	missense	64324	exon23	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	TCGCTCTCCAAAA	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.6793T>C	chr5.hg19:g.176721162T>C	ENSP00000395929:p.Ser2265Pro	92.0	0.0		54.0	4.0	NM_022455	Q96PD8|Q96RN7	Missense_Mutation	SNP	ENST00000439151.2	hg19	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	T	12.09	1.832882	0.32421	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	D;D;D;D	0.95588	-3.68;-3.68;-3.68;-3.75	5.41	4.21	0.49690	.	0.107272	0.42548	D	0.000698	D	0.90096	0.6906	L	0.27053	0.805	0.35496	D	0.799389	B;B	0.19200	0.021;0.034	B;B	0.19946	0.027;0.012	D	0.87360	0.2343	10	0.49607	T	0.09	.	7.2463	0.26124	0.0:0.0752:0.1461:0.7787	.	1996;2265	Q96L73-2;Q96L73	.;NSD1_HUMAN	P	1996;2265;1996;2162	ENSP00000346111:S1996P;ENSP00000395929:S2265P;ENSP00000343209:S1996P;ENSP00000354310:S2162P	ENSP00000343209:S1996P	S	+	1	0	NSD1	176653768	0.879000	0.30193	0.999000	0.59377	0.949000	0.60115	1.665000	0.37449	1.030000	0.39839	0.533000	0.62120	TCC	.	.		0.522	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349	
PDLIM7	9260	hgsc.bcm.edu	37	5	176916442	176916442	+	Missense_Mutation	SNP	C	C	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr5:176916442C>T	ENST00000355841.2	-	9	887	c.821G>A	c.(820-822)aGc>aAc	p.S274N	PDLIM7_ENST00000356618.4_Silent_p.Q253Q|PDLIM7_ENST00000393551.1_Silent_p.Q253Q|PDLIM7_ENST00000359895.2_Missense_Mutation_p.S240N	NM_005451.3	NP_005442.2	Q9NR12	PDLI7_HUMAN	PDZ and LIM domain 7 (enigma)	274					actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of osteoblast differentiation (GO:0045669)|receptor-mediated endocytosis (GO:0006898)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ruffle (GO:0001726)|stress fiber (GO:0001725)	zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	10	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCCGTTGTTGCTGCCCCCTCC	0.682																																					p.S274N		Atlas-SNP	.											.	PDLIM7	32	.	0			c.G821A						.						24.0	32.0	29.0					5																	176916442		2200	4297	6497	SO:0001583	missense	9260	exon9			TTGTTGCTGCCCC	BC001093	CCDS4422.1, CCDS4423.1, CCDS4424.1	5q35.3	2008-02-05			ENSG00000196923	ENSG00000196923			22958	protein-coding gene	gene with protein product		605903				11874232	Standard	NM_005451		Approved	ENIGMA	uc003mhc.1	Q9NR12	OTTHUMG00000130853	ENST00000355841.2:c.821G>A	chr5.hg19:g.176916442C>T	ENSP00000348099:p.Ser274Asn	149.0	0.0		125.0	5.0	NM_005451	Q14250|Q5XG82|Q6NVZ5|Q96C91|Q9BXB8|Q9BXB9	Missense_Mutation	SNP	ENST00000355841.2	hg19	CCDS4422.1	.	.	.	.	.	.	.	.	.	.	C	0.343	-0.949454	0.02304	.	.	ENSG00000196923	ENST00000359895;ENST00000355841	T;T	0.50813	0.81;0.73	3.53	1.67	0.24075	.	1.006700	0.08008	N	0.989872	T	0.30386	0.0763	L	0.29908	0.895	0.20196	N	0.999924	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.24799	-1.0150	10	0.18710	T	0.47	.	3.1305	0.06421	0.0:0.4855:0.2262:0.2883	.	274;240	Q9NR12;Q9NR12-2	PDLI7_HUMAN;.	N	240;274	ENSP00000352964:S240N;ENSP00000348099:S274N	ENSP00000348099:S274N	S	-	2	0	PDLIM7	176849048	0.001000	0.12720	0.056000	0.19401	0.151000	0.21798	1.005000	0.29834	0.456000	0.26937	0.650000	0.86243	AGC	.	.		0.682	PDLIM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253423.1	NM_005451	
TBC1D9B	23061	hgsc.bcm.edu	37	5	179298474	179298474	+	Silent	SNP	G	G	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr5:179298474G>A	ENST00000356834.3	-	15	2509	c.2472C>T	c.(2470-2472)taC>taT	p.Y824Y	TBC1D9B_ENST00000355235.3_Silent_p.Y824Y|TBC1D9B_ENST00000519746.1_5'UTR|TBC1D9B_ENST00000444477.2_5'UTR	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	824						integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TAAACACCATGTAAAGGTCCT	0.478																																					p.Y824Y		Atlas-SNP	.											.	TBC1D9B	157	.	0			c.C2472T						.						92.0	73.0	80.0					5																	179298474		2203	4300	6503	SO:0001819	synonymous_variant	23061	exon15			CACCATGTAAAGG	AB014576	CCDS4450.1, CCDS43408.1	5q35.3	2013-01-10			ENSG00000197226	ENSG00000197226		"""EF-hand domain containing"""	29097	protein-coding gene	gene with protein product						9734811	Standard	NM_198868		Approved	KIAA0676	uc003mlh.3	Q66K14	OTTHUMG00000130911	ENST00000356834.3:c.2472C>T	chr5.hg19:g.179298474G>A		159.0	0.0		112.0	18.0	NM_198868	D3DWQ5|D3DWQ6|O75163|Q53EY0|Q6MZI2|Q96H49	Silent	SNP	ENST00000356834.3	hg19	CCDS43408.1																																																																																			.	.		0.478	TBC1D9B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253501.3	NM_015043	
OR2V1	26693	hgsc.bcm.edu	37	5	180552260	180552260	+	Silent	SNP	G	G	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr5:180552260G>T	ENST00000329365.2	-	1	44	c.45C>A	c.(43-45)ctC>ctA	p.L15L		NM_001258283.1	NP_001245212.1	Q8NHB1	OR2V1_HUMAN	olfactory receptor, family 2, subfamily V, member 1	15						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			lung(4)	4						AGATGCCCAAGAGGAAGAAGC	0.483																																					p.L15L		Atlas-SNP	.											.	OR2V1	20	.	0			c.C45A						.																																			SO:0001819	synonymous_variant	26693	exon1			GCCCAAGAGGAAG	AB065465	CCDS58992.1	5q35.3	2012-08-09		2004-03-10	ENSG00000185372	ENSG00000185372		"""GPCR / Class A : Olfactory receptors"""	8280	protein-coding gene	gene with protein product				OR2V1P			Standard	NM_001258283		Approved	OST265	uc031smg.1	Q8NHB1	OTTHUMG00000162118	ENST00000329365.2:c.45C>A	chr5.hg19:g.180552260G>T		92.0	0.0		89.0	4.0	NM_001258283		Silent	SNP	ENST00000329365.2	hg19	CCDS58992.1																																																																																			.	.		0.483	OR2V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367367.1		
TRIM41	90933	hgsc.bcm.edu	37	5	180662368	180662368	+	3'UTR	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr5:180662368A>G	ENST00000315073.5	+	0	3196				TRIM41_ENST00000351937.5_Missense_Mutation_p.S516G	NM_033549.4	NP_291027.3	Q8WV44	TRI41_HUMAN	tripartite motif containing 41						protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|prostate(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCCAGAATTTAGCTTCACTTG	0.418																																					p.S516G		Atlas-SNP	.											.	TRIM41	96	.	0			c.A1546G						.						82.0	78.0	79.0					5																	180662368		2203	4300	6503	SO:0001624	3_prime_UTR_variant	90933	exon8			GAATTTAGCTTCA	AF258579	CCDS4465.1, CCDS4466.1	5q35.3	2013-01-09	2011-01-25		ENSG00000146063	ENSG00000146063		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19013	protein-coding gene	gene with protein product	"""RING-finger protein that interacts with C kinase"""	610530	"""tripartite motif-containing 41"""			16022281	Standard	NM_033549		Approved	MGC1127, RINCK	uc003mne.2	Q8WV44	OTTHUMG00000130965	ENST00000315073.5:c.*593A>G	chr5.hg19:g.180662368A>G		264.0	0.0		254.0	55.0	NM_201627	B3KNJ6|D3DWR9|Q5BKT0|Q7L484|Q96Q10|Q9BSL8	Missense_Mutation	SNP	ENST00000315073.5	hg19	CCDS4466.1	.	.	.	.	.	.	.	.	.	.	A	15.41	2.826614	0.50739	.	.	ENSG00000146063	ENST00000351937	T	0.38240	1.15	4.45	3.29	0.37713	.	.	.	.	.	T	0.18299	0.0439	N	0.08118	0	0.80722	D	1	B	0.10296	0.003	B	0.11329	0.006	T	0.04930	-1.0917	9	0.66056	D	0.02	.	6.6107	0.22749	0.8943:0.0:0.1057:0.0	.	516	Q8WV44-2	.	G	516	ENSP00000336749:S516G	ENSP00000336749:S516G	S	+	1	0	TRIM41	180594974	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.717000	0.37991	1.047000	0.40274	0.459000	0.35465	AGC	.	.		0.418	TRIM41-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253574.3	NM_201627	
CAGE1	285782	hgsc.bcm.edu	37	6	7379230	7379230	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr6:7379230T>C	ENST00000512086.1	-	4	509	c.307A>G	c.(307-309)Acg>Gcg	p.T103A	CAGE1_ENST00000338150.4_Missense_Mutation_p.T103A|CAGE1_ENST00000379918.4_Missense_Mutation_p.T103A|CAGE1_ENST00000509324.1_Intron|CAGE1_ENST00000502583.1_Missense_Mutation_p.T103A|CAGE1_ENST00000296742.7_5'UTR			Q8TC20	CAGE1_HUMAN	cancer antigen 1	103										breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1)	19	Ovarian(93;0.0418)					AGTGCATTCGTTGAGTAATTT	0.333																																					p.T103A		Atlas-SNP	.											.	CAGE1	165	.	0			c.A307G						.						48.0	38.0	41.0					6																	7379230		692	1591	2283	SO:0001583	missense	285782	exon4			CATTCGTTGAGTA	BC026194	CCDS47367.1, CCDS54964.1, CCDS54965.1	6p24.3	2009-08-06	2005-01-26	2005-01-27	ENSG00000164304	ENSG00000164304			21622	protein-coding gene	gene with protein product	"""cancer/testis antigen 95"""	608304	"""cancer/testis antigen 3"""	CTAG3		12531476	Standard	NM_205864		Approved	bA69L16.7, CT95	uc003mxl.2	Q8TC20	OTTHUMG00000014200	ENST00000512086.1:c.307A>G	chr6.hg19:g.7379230T>C	ENSP00000427583:p.Thr103Ala	79.0	0.0		54.0	4.0	NM_001170693	D6RCT9|Q5TAM0|Q86TM4|Q8N7R5	Missense_Mutation	SNP	ENST00000512086.1	hg19		.	.	.	.	.	.	.	.	.	.	T	5.874	0.345456	0.11126	.	.	ENSG00000164304	ENST00000541116;ENST00000379918;ENST00000502583;ENST00000512086;ENST00000338150;ENST00000542431;ENST00000512691	T;T;T;T;T	0.28666	1.6;1.6;1.6;1.6;1.6	5.23	-0.334	0.12666	.	0.927504	0.09101	N	0.848519	T	0.07279	0.0184	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.37197	-0.9716	8	0.49607	T	0.09	0.0131	10.8192	0.46595	0.0:0.5385:0.3205:0.1411	.	.	.	.	A	103;103;103;103;103;103;115	ENSP00000369250:T103A;ENSP00000425493:T103A;ENSP00000427583:T103A;ENSP00000338107:T103A;ENSP00000423789:T115A	ENSP00000338107:T103A	T	-	1	0	CAGE1	7324229	0.015000	0.18098	0.056000	0.19401	0.046000	0.14306	-0.118000	0.10692	0.025000	0.15241	-0.213000	0.12676	ACG	.	.		0.333	CAGE1-008	PUTATIVE	non_canonical_conserved|basic	protein_coding	protein_coding	OTTHUMT00000367136.1	NM_175745	
TFAP2A	7020	hgsc.bcm.edu	37	6	10410201	10410201	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr6:10410201T>C	ENST00000482890.1	-	3	765	c.413A>G	c.(412-414)cAc>cGc	p.H138R	TFAP2A_ENST00000379608.3_Missense_Mutation_p.H132R|TFAP2A_ENST00000319516.4_Missense_Mutation_p.H134R|TFAP2A_ENST00000379613.3_Missense_Mutation_p.H140R|TFAP2A_ENST00000379604.2_Missense_Mutation_p.H138R|TFAP2A-AS1_ENST00000420777.1_RNA|TFAP2A_ENST00000497266.1_5'UTR			P05549	AP2A_HUMAN	transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)	138					anterior neuropore closure (GO:0021506)|basement membrane organization (GO:0071711)|bone morphogenesis (GO:0060349)|cellular response to iron ion (GO:0071281)|cornea development in camera-type eye (GO:0061303)|embryonic body morphogenesis (GO:0010172)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|embryonic pattern specification (GO:0009880)|epidermis morphogenesis (GO:0048730)|eyelid development in camera-type eye (GO:0061029)|face morphogenesis (GO:0060325)|forebrain neuron development (GO:0021884)|inner ear morphogenesis (GO:0042472)|keratinocyte development (GO:0003334)|kidney development (GO:0001822)|lens induction in camera-type eye (GO:0060235)|metanephric nephron development (GO:0072210)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell development (GO:0014032)|oculomotor nerve formation (GO:0021623)|optic cup structural organization (GO:0003409)|optic vesicle morphogenesis (GO:0003404)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell migration (GO:0030335)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of tooth mineralization (GO:0070172)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell differentiation (GO:0045595)|regulation of neuron differentiation (GO:0045664)|retina layer formation (GO:0010842)|sensory perception of sound (GO:0007605)|sympathetic nervous system development (GO:0048485)|transcription from RNA polymerase II promoter (GO:0006366)|trigeminal nerve development (GO:0021559)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	13	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)				GCTGAGCGCGTGTGGGCCGTG	0.682																																					p.H138R		Atlas-SNP	.											.	TFAP2A	129	.	0			c.A413G						.						19.0	18.0	18.0					6																	10410201		2187	4276	6463	SO:0001583	missense	7020	exon2			AGCGCGTGTGGGC	X52611	CCDS4510.1, CCDS34337.1, CCDS43422.1	6p24.3	2013-09-19	2001-11-28		ENSG00000137203	ENSG00000137203			11742	protein-coding gene	gene with protein product		107580	"""transcription factor AP-2 alpha (activating enhancer-binding protein 2 alpha)"""	TFAP2, AP2TF		1916817, 3063603	Standard	NM_001032280		Approved	AP-2	uc003myr.3	P05549	OTTHUMG00000014235	ENST00000482890.1:c.413A>G	chr6.hg19:g.10410201T>C	ENSP00000418541:p.His138Arg	153.0	0.0		89.0	4.0	NM_003220	Q13777|Q5TAV5|Q8N1C6	Missense_Mutation	SNP	ENST00000482890.1	hg19	CCDS4510.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	23.7|23.7	4.451234|4.451234	0.84209|0.84209	.|.	.|.	ENSG00000137203|ENSG00000137203	ENST00000379613;ENST00000379604;ENST00000319516;ENST00000379608;ENST00000482890;ENST00000466073|ENST00000475264	T;T;T;T;T;T|.	0.80653|.	-1.4;-1.4;-1.4;-1.4;-1.4;-1.4|.	4.78|4.78	4.78|4.78	0.61160|0.61160	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.69333|0.69333	0.3099|0.3099	M|M	0.82323|0.82323	2.585|2.585	0.80722|0.80722	D|D	1|1	D;D;D;P;D;D;P|.	0.69078|.	0.973;0.973;0.997;0.82;0.973;0.973;0.858|.	D;D;D;B;D;D;P|.	0.79784|.	0.921;0.921;0.993;0.328;0.921;0.921;0.672|.	T|T	0.73398|0.73398	-0.3995|-0.3995	10|5	0.72032|.	D|.	0.01|.	-11.8479|-11.8479	13.1502|13.1502	0.59484|0.59484	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	140;138;138;140;134;138;132|.	Q96SH1;C1K3N0;P05549-2;Q96SH0;Q5TAV5;P05549;Q8N1C6|.	.;.;.;.;.;AP2A_HUMAN;.|.	R|A	140;138;134;132;138;138|43	ENSP00000368933:H140R;ENSP00000368924:H138R;ENSP00000316516:H134R;ENSP00000368928:H132R;ENSP00000418541:H138R;ENSP00000417495:H138R|.	ENSP00000316516:H134R|.	H|T	-|-	2|1	0|0	TFAP2A|TFAP2A	10518187|10518187	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	6.102000|6.102000	0.71486|0.71486	1.780000|1.780000	0.52325|0.52325	0.482000|0.482000	0.46254|0.46254	CAC|ACG	.	.		0.682	TFAP2A-007	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353619.2	NM_003220	
RANBP9	10048	hgsc.bcm.edu	37	6	13642722	13642722	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr6:13642722T>C	ENST00000011619.3	-	7	1272	c.1214A>G	c.(1213-1215)aAg>aGg	p.K405R	RANBP9_ENST00000539980.1_Missense_Mutation_p.K176R	NM_005493.2	NP_005484.2	Q96S59	RANB9_HUMAN	RAN binding protein 9	405	CTLH. {ECO:0000255|PROSITE- ProRule:PRU00058}.|Interaction with CALB1. {ECO:0000305}.				axon guidance (GO:0007411)|microtubule nucleation (GO:0007020)|protein complex assembly (GO:0006461)	cytosol (GO:0005829)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|Ran GTPase binding (GO:0008536)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	16	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.223)			TTGTCTATTCTTAATGGAAGC	0.353																																					p.K405R		Atlas-SNP	.											.	RANBP9	42	.	0			c.A1214G						.						92.0	85.0	87.0					6																	13642722		2203	4300	6503	SO:0001583	missense	10048	exon7			CTATTCTTAATGG	AB008515	CCDS4529.1	6p23	2010-05-25			ENSG00000010017	ENSG00000010017			13727	protein-coding gene	gene with protein product	"""Ran Binding Protein in the Microtubule organizing center"""	603854				9817760	Standard	NM_005493		Approved	RanBPM	uc003nbb.3	Q96S59	OTTHUMG00000015642	ENST00000011619.3:c.1214A>G	chr6.hg19:g.13642722T>C	ENSP00000011619:p.Lys405Arg	76.0	0.0		64.0	4.0	NM_005493	A0PJA2|B2R8E1|O94764|Q6P3T7|Q7LBR2|Q7Z7F9	Missense_Mutation	SNP	ENST00000011619.3	hg19	CCDS4529.1	.	.	.	.	.	.	.	.	.	.	T	18.97	3.735135	0.69189	.	.	ENSG00000010017	ENST00000011619;ENST00000539980	T	0.79749	-1.3	5.75	5.75	0.90469	CTLH, C-terminal LisH motif (2);	0.042023	0.85682	D	0.000000	D	0.86016	0.5832	M	0.70595	2.14	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	D	0.85164	0.0994	10	0.35671	T	0.21	-11.6801	16.0342	0.80612	0.0:0.0:0.0:1.0	.	405	Q96S59	RANB9_HUMAN	R	405;176	ENSP00000011619:K405R	ENSP00000011619:K405R	K	-	2	0	RANBP9	13750701	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.655000	0.83696	2.185000	0.69588	0.460000	0.39030	AAG	.	.		0.353	RANBP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042373.1		
MYLIP	29116	hgsc.bcm.edu	37	6	16144041	16144041	+	Silent	SNP	C	C	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr6:16144041C>T	ENST00000356840.3	+	5	972	c.774C>T	c.(772-774)acC>acT	p.T258T	MYLIP_ENST00000349606.4_Silent_p.T77T|MIR4639_ENST00000584938.1_RNA	NM_013262.3	NP_037394.2	Q8WY64	MYLIP_HUMAN	myosin regulatory light chain interacting protein	258	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cellular component movement (GO:0006928)|cholesterol homeostasis (GO:0042632)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|nervous system development (GO:0007399)|positive regulation of protein catabolic process (GO:0045732)|protein destabilization (GO:0031648)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of low-density lipoprotein particle receptor catabolic process (GO:0032803)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	cytoskeletal protein binding (GO:0008092)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.241)			TGATCAGCACCAGGGCGGCCA	0.537																																					p.T258T		Atlas-SNP	.											.	MYLIP	44	.	0			c.C774T						.						162.0	156.0	158.0					6																	16144041		2203	4300	6503	SO:0001819	synonymous_variant	29116	exon5			CAGCACCAGGGCG	AF187016	CCDS4536.1	6p23-p22.3	2011-11-17			ENSG00000007944	ENSG00000007944			21155	protein-coding gene	gene with protein product	"""E3 ubiquitin ligase-inducible degrader of the low density lipoprotein receptor"""	610082				10593918, 11162443, 19688294	Standard	NM_013262		Approved	MIR, IDOL	uc003nbq.3	Q8WY64	OTTHUMG00000016405	ENST00000356840.3:c.774C>T	chr6.hg19:g.16144041C>T		132.0	0.0		90.0	4.0	NM_013262	Q5TIA4|Q9BU73|Q9NRL9|Q9UHE7	Silent	SNP	ENST00000356840.3	hg19	CCDS4536.1																																																																																			.	.		0.537	MYLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043864.1	NM_013262	
KIF13A	63971	hgsc.bcm.edu	37	6	17794586	17794586	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr6:17794586T>C	ENST00000259711.6	-	25	3221	c.3116A>G	c.(3115-3117)cAg>cGg	p.Q1039R	KIF13A_ENST00000378816.5_Missense_Mutation_p.Q1039R|KIF13A_ENST00000378843.2_Missense_Mutation_p.Q1039R|KIF13A_ENST00000378814.5_Missense_Mutation_p.Q1039R|KIF13A_ENST00000378826.2_Missense_Mutation_p.Q1039R	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	1039					ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			CCCTGAATGCTGCACAGGTTT	0.512																																					p.Q1039R		Atlas-SNP	.											.	KIF13A	276	.	0			c.A3116G						.						113.0	105.0	108.0					6																	17794586		1928	4148	6076	SO:0001583	missense	63971	exon25			GAATGCTGCACAG	AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"""Kinesins"""	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000259711.6:c.3116A>G	chr6.hg19:g.17794586T>C	ENSP00000259711:p.Gln1039Arg	110.0	0.0		95.0	4.0	NM_001105567	A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Missense_Mutation	SNP	ENST00000259711.6	hg19	CCDS47381.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	23.4|23.4	4.413348|4.413348	0.83449|0.83449	.|.	.|.	ENSG00000137177|ENSG00000137177	ENST00000378814;ENST00000502297;ENST00000259711;ENST00000378826;ENST00000378843;ENST00000378816|ENST00000358380	T;T;T;T;T;T|.	0.72394|.	-0.64;1.79;-0.65;-0.63;-0.64;-0.63|.	5.43|5.43	5.43|5.43	0.79202|0.79202	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.61048|0.61048	0.2316|0.2316	L|L	0.56280|0.56280	1.765|1.765	0.58432|0.58432	D|D	0.999999|0.999999	B;D;B;D|.	0.63880|.	0.164;0.98;0.197;0.993|.	B;P;B;P|.	0.59115|.	0.142;0.736;0.444;0.852|.	T|T	0.60860|0.60860	-0.7179|-0.7179	10|5	0.44086|.	T|.	0.13|.	.|.	15.7844|15.7844	0.78291|0.78291	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1039;1039;1039;1039|.	Q9H1H9-4;Q9H1H9-2;Q9H1H9;Q9H1H9-3|.	.;.;KI13A_HUMAN;.|.	R|G	1039;56;1039;1039;1039;1039|433	ENSP00000368091:Q1039R;ENSP00000425616:Q56R;ENSP00000259711:Q1039R;ENSP00000368103:Q1039R;ENSP00000368120:Q1039R;ENSP00000368093:Q1039R|.	ENSP00000259711:Q1039R|.	Q|S	-|-	2|1	0|0	KIF13A|KIF13A	17902565|17902565	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.849000|0.849000	0.48306|0.48306	7.608000|7.608000	0.82898|0.82898	2.190000|2.190000	0.69967|0.69967	0.533000|0.533000	0.62120|0.62120	CAG|AGC	.	.		0.512	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039954.4		
MRS2	57380	hgsc.bcm.edu	37	6	24418379	24418379	+	Silent	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr6:24418379T>C	ENST00000378386.3	+	8	997	c.904T>C	c.(904-906)Ttg>Ctg	p.L302L	MRS2_ENST00000483634.1_3'UTR|MRS2_ENST00000535061.1_Silent_p.L252L|MRS2_ENST00000543597.1_Silent_p.L11L|MRS2_ENST00000274747.7_3'UTR|MRS2_ENST00000378353.1_Silent_p.L302L|MRS2_ENST00000443868.2_Silent_p.L305L	NM_020662.2	NP_065713.1	Q9HD23	MRS2_HUMAN	MRS2 magnesium transporter	302						integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	magnesium ion transmembrane transporter activity (GO:0015095)			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	12						CTACTACCGATTGGCTGACGA	0.388																																					p.L302L		Atlas-SNP	.											.	MRS2	31	.	0			c.T904C						.						139.0	125.0	130.0					6																	24418379		2203	4300	6503	SO:0001819	synonymous_variant	57380	exon8			TACCGATTGGCTG	AF288288	CCDS4552.1, CCDS69055.1, CCDS69056.1, CCDS75408.1	6p22.3-p22.1	2013-05-03	2013-05-03	2008-01-18	ENSG00000124532	ENSG00000124532			13785	protein-coding gene	gene with protein product			"""MRS2-like, magnesium homeostasis factor (S. cerevisiae)"", ""MRS2 magnesium homeostasis factor homolog (S. cerevisiae)"""	MRS2L			Standard	XM_005249242		Approved		uc003neb.3	Q9HD23	OTTHUMG00000014355	ENST00000378386.3:c.904T>C	chr6.hg19:g.24418379T>C		234.0	0.0		139.0	6.0	NM_020662	A8K4U3|B3KNN2|B4DQL2|Q5T3Y1|Q6NTG4|Q96KF8|Q9BVP1	Silent	SNP	ENST00000378386.3	hg19	CCDS4552.1																																																																																			.	.		0.388	MRS2-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040002.1		
HIST1H3A	8350	hgsc.bcm.edu	37	6	26020867	26020867	+	Silent	SNP	C	C	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr6:26020867C>A	ENST00000357647.3	+	1	150	c.150C>A	c.(148-150)cgC>cgA	p.R50R	HIST1H1A_ENST00000244573.3_5'Flank|HIST1H4A_ENST00000359907.3_5'Flank	NM_003529.2	NP_003520.1	P68431	H31_HUMAN	histone cluster 1, H3a	50					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			endometrium(1)|lung(3)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						TGGCTCTGCGCGAGATCCGCC	0.602																																					p.R50R		Atlas-SNP	.											.	HIST1H3A	14	.	0			c.C150A						.						37.0	43.0	41.0					6																	26020867		2203	4300	6503	SO:0001819	synonymous_variant	8350	exon1			TCTGCGCGAGATC	Z46261	CCDS4570.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000198366	ENSG00000275714		"""Histones / Replication-dependent"""	4766	protein-coding gene	gene with protein product		602810	"""H3 histone family, member A"", ""histone 1, H3a"""	H3FA		9119399, 12408966	Standard	NM_003529		Approved	H3/A	uc003nfp.1	P68431	OTTHUMG00000014418	ENST00000357647.3:c.150C>A	chr6.hg19:g.26020867C>A		96.0	0.0		73.0	4.0	NM_003529	A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Silent	SNP	ENST00000357647.3	hg19	CCDS4570.1																																																																																			.	.		0.602	HIST1H3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040080.1	NM_003529	
BTN3A1	11119	hgsc.bcm.edu	37	6	26413697	26413697	+	Missense_Mutation	SNP	A	A	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr6:26413697A>C	ENST00000289361.6	+	10	1687	c.1319A>C	c.(1318-1320)aAg>aCg	p.K440T	BTN3A1_ENST00000414912.2_Missense_Mutation_p.K388T	NM_001145008.1|NM_001145009.1|NM_007048.5	NP_001138480.1|NP_001138481.1|NP_008979.3	O00481	BT3A1_HUMAN	butyrophilin, subfamily 3, member A1	440	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				activated T cell proliferation (GO:0050798)|cytokine secretion (GO:0050663)|interferon-gamma secretion (GO:0072643)|T cell receptor signaling pathway (GO:0050852)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						GATGGGAATAAGTATCGGACT	0.478																																					p.K440T		Atlas-SNP	.											.	BTN3A1	80	.	0			c.A1319C						.						141.0	143.0	142.0					6																	26413697		2203	4300	6503	SO:0001583	missense	11119	exon10			GGAATAAGTATCG	U90552	CCDS4608.1, CCDS4609.1, CCDS47388.1, CCDS47389.1	6p22.1	2014-01-14			ENSG00000026950	ENSG00000026950		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1138	protein-coding gene	gene with protein product		613593				9149941	Standard	NM_007048		Approved	BT3.1, BTF5, CD277, BTN3.1	uc003nhv.3	O00481	OTTHUMG00000014449	ENST00000289361.6:c.1319A>C	chr6.hg19:g.26413697A>C	ENSP00000289361:p.Lys440Thr	109.0	0.0		60.0	15.0	NM_007048	A2A278|A8K2C8|B4DIQ1|B4DRM2|E9PGB4|E9PHG8|Q0P515|Q147X5|Q53F15|Q99420|Q9HCY1	Missense_Mutation	SNP	ENST00000289361.6	hg19	CCDS4608.1	.	.	.	.	.	.	.	.	.	.	.	8.273	0.813912	0.16537	.	.	ENSG00000026950	ENST00000289361;ENST00000414912	T;T	0.60548	0.18;0.18	2.31	1.12	0.20585	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	T	0.17534	0.0421	N	0.12527	0.23	0.09310	N	1	P;P	0.48589	0.802;0.912	B;B	0.41135	0.265;0.348	T	0.03829	-1.1000	9	0.52906	T	0.07	.	5.6531	0.17627	0.8487:0.0:0.1513:0.0	.	388;440	E9PGB4;O00481	.;BT3A1_HUMAN	T	440;388	ENSP00000289361:K440T;ENSP00000406667:K388T	ENSP00000289361:K440T	K	+	2	0	BTN3A1	26521676	0.000000	0.05858	0.001000	0.08648	0.025000	0.11179	-5.592000	0.00111	0.309000	0.22966	0.496000	0.49642	AAG	.	.		0.478	BTN3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040112.3		
BTN3A1	11119	hgsc.bcm.edu	37	6	26413707	26413707	+	Silent	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr6:26413707T>C	ENST00000289361.6	+	10	1697	c.1329T>C	c.(1327-1329)acT>acC	p.T443T	BTN3A1_ENST00000414912.2_Silent_p.T391T	NM_001145008.1|NM_001145009.1|NM_007048.5	NP_001138480.1|NP_001138481.1|NP_008979.3	O00481	BT3A1_HUMAN	butyrophilin, subfamily 3, member A1	443	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				activated T cell proliferation (GO:0050798)|cytokine secretion (GO:0050663)|interferon-gamma secretion (GO:0072643)|T cell receptor signaling pathway (GO:0050852)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						AGTATCGGACTCTAACTGAGC	0.478																																					p.T443T		Atlas-SNP	.											.	BTN3A1	80	.	0			c.T1329C						.						140.0	141.0	141.0					6																	26413707		2203	4300	6503	SO:0001819	synonymous_variant	11119	exon10			TCGGACTCTAACT	U90552	CCDS4608.1, CCDS4609.1, CCDS47388.1, CCDS47389.1	6p22.1	2014-01-14			ENSG00000026950	ENSG00000026950		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1138	protein-coding gene	gene with protein product		613593				9149941	Standard	NM_007048		Approved	BT3.1, BTF5, CD277, BTN3.1	uc003nhv.3	O00481	OTTHUMG00000014449	ENST00000289361.6:c.1329T>C	chr6.hg19:g.26413707T>C		132.0	0.0		65.0	4.0	NM_007048	A2A278|A8K2C8|B4DIQ1|B4DRM2|E9PGB4|E9PHG8|Q0P515|Q147X5|Q53F15|Q99420|Q9HCY1	Silent	SNP	ENST00000289361.6	hg19	CCDS4608.1																																																																																			.	.		0.478	BTN3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040112.3		
ZNF165	7718	hgsc.bcm.edu	37	6	28057118	28057118	+	Missense_Mutation	SNP	T	T	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr6:28057118T>A	ENST00000377325.1	+	4	1884	c.1328T>A	c.(1327-1329)cTt>cAt	p.L443H	ZSCAN12P1_ENST00000529104.1_RNA	NM_003447.3	NP_003438.1	P49910	ZN165_HUMAN	zinc finger protein 165	443					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(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						AGCTCACATCTTATTCGACAC	0.443																																					p.L443H		Atlas-SNP	.											.	ZNF165	48	.	0			c.T1328A						.						60.0	61.0	60.0					6																	28057118		2203	4300	6503	SO:0001583	missense	7718	exon4			CACATCTTATTCG	U78722	CCDS4643.1	6p21	2013-01-09			ENSG00000197279	ENSG00000197279		"""-"", ""Zinc fingers, C2H2-type"""	12953	protein-coding gene	gene with protein product	"""cancer/testis antigen 53"""	600834				7490084	Standard	NM_003447		Approved	ZSCAN7, CT53	uc021yro.1	P49910	OTTHUMG00000014505	ENST00000377325.1:c.1328T>A	chr6.hg19:g.28057118T>A	ENSP00000366542:p.Leu443His	139.0	0.0		89.0	4.0	NM_003447		Missense_Mutation	SNP	ENST00000377325.1	hg19	CCDS4643.1	.	.	.	.	.	.	.	.	.	.	T	13.87	2.364649	0.41902	.	.	ENSG00000197279	ENST00000377325	T	0.54071	0.59	2.71	2.71	0.32032	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.73753	0.3627	H	0.97465	4.01	0.28928	N	0.89175	D	0.89917	1.0	D	0.97110	1.0	T	0.67673	-0.5610	9	0.87932	D	0	.	10.0209	0.42041	0.0:0.0:0.0:1.0	.	443	P49910	ZN165_HUMAN	H	443	ENSP00000366542:L443H	ENSP00000366542:L443H	L	+	2	0	ZNF165	28165097	0.890000	0.30428	0.937000	0.37676	0.203000	0.24098	6.745000	0.74860	1.268000	0.44264	0.477000	0.44152	CTT	.	.		0.443	ZNF165-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040173.1	NM_003447	
ZBED9	114821	hgsc.bcm.edu	37	6	28540398	28540398	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr6:28540398A>G	ENST00000452236.2	-	4	3885	c.3268T>C	c.(3268-3270)Tcc>Ccc	p.S1090P		NM_052923.1	NP_443155.1														NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						aaaagttgggaccacatgggt	0.378																																					p.S1090P		Atlas-SNP	.											.	SCAND3	156	.	0			c.T3268C						.						60.0	61.0	61.0					6																	28540398		2203	4298	6501	SO:0001583	missense	114821	exon4			GTTGGGACCACAT																												ENST00000452236.2:c.3268T>C	chr6.hg19:g.28540398A>G	ENSP00000395259:p.Ser1090Pro	126.0	0.0		123.0	5.0	NM_052923		Missense_Mutation	SNP	ENST00000452236.2	hg19	CCDS34355.1	.	.	.	.	.	.	.	.	.	.	A	12.97	2.097306	0.37048	.	.	ENSG00000232040	ENST00000452236	T	0.31247	1.5	2.14	2.14	0.27477	Ribonuclease H-like (1);	0.267070	0.21547	N	0.072783	T	0.18087	0.0434	L	0.28192	0.835	0.26251	N	0.978724	P	0.48350	0.909	D	0.63033	0.91	T	0.04593	-1.0940	10	0.29301	T	0.29	.	6.2738	0.20969	1.0:0.0:0.0:0.0	.	1090	Q6R2W3	SCND3_HUMAN	P	1090	ENSP00000395259:S1090P	ENSP00000395259:S1090P	S	-	1	0	SCAND3	28648377	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	2.200000	0.42724	1.237000	0.43756	0.459000	0.35465	TCC	.	.		0.378	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043551.3		
OR2B3	442184	hgsc.bcm.edu	37	6	29054341	29054341	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr6:29054341T>C	ENST00000377173.2	-	1	749	c.685A>G	c.(685-687)Agg>Ggg	p.R229G		NM_001005226.2	NP_001005226.1	O76000	OR2B3_HUMAN	olfactory receptor, family 2, subfamily B, member 3	229						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2)	24						TCTGCTGACCTGATTTTTAAT	0.418																																					p.R229G		Atlas-SNP	.											.	OR2B3	44	.	0			c.A685G						.						110.0	95.0	100.0					6																	29054341		2203	4300	6503	SO:0001583	missense	442184	exon1			CTGACCTGATTTT		CCDS34358.1	6p22.2-p21.31	2012-08-09	2008-10-22	2008-10-22	ENSG00000204703	ENSG00000204703		"""GPCR / Class A : Olfactory receptors"""	8238	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily B, member 3 pseudogene"""	OR2B3P			Standard	NM_001005226		Approved	OR6-4	uc003nlx.3	O76000	OTTHUMG00000031226	ENST00000377173.2:c.685A>G	chr6.hg19:g.29054341T>C	ENSP00000366378:p.Arg229Gly	107.0	0.0		84.0	4.0	NM_001005226	B0UYQ1|Q5ST41|Q96R13	Missense_Mutation	SNP	ENST00000377173.2	hg19	CCDS34358.1	.	.	.	.	.	.	.	.	.	.	T	10.70	1.424171	0.25639	.	.	ENSG00000204703	ENST00000377173	T	0.39056	1.1	3.82	2.54	0.30619	GPCR, rhodopsin-like superfamily (1);	1.264610	0.06054	U	0.657133	T	0.25121	0.0610	L	0.58669	1.825	0.09310	N	1	B	0.22080	0.064	B	0.34038	0.174	T	0.45249	-0.9274	10	0.59425	D	0.04	.	5.5155	0.16904	0.1293:0.0:0.3147:0.556	.	229	O76000	OR2B3_HUMAN	G	229	ENSP00000366378:R229G	ENSP00000366378:R229G	R	-	1	2	OR2B3	29162320	0.000000	0.05858	0.808000	0.32385	0.940000	0.58332	0.304000	0.19228	1.352000	0.45808	0.428000	0.28381	AGG	.	.		0.418	OR2B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076469.2		
SFTA2	389376	hgsc.bcm.edu	37	6	30899268	30899268	+	Silent	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr6:30899268T>C	ENST00000359086.3	-	3	312	c.234A>G	c.(232-234)acA>acG	p.T78T	Y_RNA_ENST00000516952.1_RNA	NM_205854.2	NP_995326.1	Q6UW10	SFTA2_HUMAN	surfactant associated 2	78						extracellular region (GO:0005576)				lung(2)	2						ATGGCTGTCATGTGTTGCAGA	0.602																																					p.T78T		Atlas-SNP	.											.	SFTA2	6	.	0			c.A234G						.						92.0	68.0	76.0					6																	30899268		1508	2708	4216	SO:0001819	synonymous_variant	389376	exon3			CTGTCATGTGTTG	AY102070	CCDS4691.1	6p21.3	2008-08-26	2008-08-26	2008-08-26	ENSG00000196260	ENSG00000196260			18386	protein-coding gene	gene with protein product			"""surfactant associated protein G"""	SFTPG			Standard	NM_205854		Approved		uc003nsf.3	Q6UW10	OTTHUMG00000031183	ENST00000359086.3:c.234A>G	chr6.hg19:g.30899268T>C		137.0	0.0		79.0	4.0	NM_205854	A2ABK7|A2ACH1|B7ZCJ7	Silent	SNP	ENST00000359086.3	hg19	CCDS4691.1																																																																																			.	.		0.602	SFTA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076360.2	NM_205854	
PSORS1C1	170679	hgsc.bcm.edu	37	6	31084099	31084099	+	Intron	SNP	G	G	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr6:31084099G>A	ENST00000259881.9	+	1	61				CDSN_ENST00000376288.2_Silent_p.F431F|PSORS1C1_ENST00000467107.1_3'UTR	NM_014068.2	NP_054787.2	Q9UIG5	PS1C1_HUMAN	psoriasis susceptibility 1 candidate 1											kidney(1)|ovary(2)|prostate(1)|skin(1)	5						AGCTGCTGCTGAAGGAGCCGG	0.587																																					p.F431F		Atlas-SNP	.											.	CDSN	48	.	0			c.C1293T						.						37.0	39.0	38.0					6																	31084099		2203	4300	6503	SO:0001627	intron_variant	1041	exon2			GCTGCTGAAGGAG	AB031479	CCDS34390.1	6p21.3	2014-01-28	2003-06-12		ENSG00000204540	ENSG00000204540			17202	protein-coding gene	gene with protein product		613525	"""chromosome 6 open reading frame 16"""	C6orf16			Standard	NM_014068		Approved	SEEK1	uc003nsl.2	Q9UIG5	OTTHUMG00000031077	ENST00000259881.9:c.-229+1431G>A	chr6.hg19:g.31084099G>A		132.0	0.0		82.0	5.0	NM_001264	B0V083|Q5ST21|Q86WJ8|Q86WJ9|Q96QC3	Silent	SNP	ENST00000259881.9	hg19	CCDS34390.1																																																																																			.	.		0.587	PSORS1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076110.3	NM_014068	
CCHCR1	54535	hgsc.bcm.edu	37	6	31125311	31125311	+	Intron	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr6:31125311T>C	ENST00000376266.5	-	2	72				CCHCR1_ENST00000480060.1_Intron|CCHCR1_ENST00000396268.3_Missense_Mutation_p.M23V|TCF19_ENST00000376255.4_5'Flank|TCF19_ENST00000376257.3_5'Flank|CCHCR1_ENST00000396263.2_Intron|CCHCR1_ENST00000451521.2_Missense_Mutation_p.M23V	NM_019052.3	NP_061925.2	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1						cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|protein export from nucleus (GO:0006611)	centriole (GO:0005814)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						CAGCAGGCCATGACTCTTGGG	0.592																																					p.M23V		Atlas-SNP	.											.	CCHCR1	68	.	0			c.A67G						.						46.0	55.0	52.0					6																	31125311		1313	2581	3894	SO:0001627	intron_variant	54535	exon1			AGGCCATGACTCT	AF216493	CCDS4695.1, CCDS43445.1, CCDS47397.1	6p21.3	2007-08-01	2005-02-15	2005-02-16	ENSG00000204536	ENSG00000204536			13930	protein-coding gene	gene with protein product		605310	"""chromosome 6 open reading frame 18"""	C6orf18		10888604, 10545595	Standard	NM_019052		Approved	HCR	uc003nsp.4	Q8TD31	OTTHUMG00000031112	ENST00000376266.5:c.51-445A>G	chr6.hg19:g.31125311T>C		133.0	0.0		97.0	4.0	NM_001105563	A2ABH6|E9PE84|Q2TB67|Q5SQ82|Q5STE9|Q9NRK8|Q9NWY9|Q9NXJ4|Q9NXK3|Q9Y6W1|Q9Y6W2	Missense_Mutation	SNP	ENST00000376266.5	hg19	CCDS4695.1	.	.	.	.	.	.	.	.	.	.	T	16.15	3.041853	0.55003	.	.	ENSG00000204536	ENST00000396268;ENST00000451521;ENST00000426967	T;T;T	0.25579	3.88;3.52;1.79	5.61	1.74	0.24563	.	.	.	.	.	T	0.03011	0.0089	N	0.08118	0	0.20074	N	0.999932	B;B	0.10296	0.002;0.003	B;B	0.13407	0.004;0.009	T	0.48127	-0.9062	9	0.13853	T	0.58	.	6.1112	0.20102	0.0:0.0854:0.3535:0.5611	.	23;23	E9PE84;Q8TD31-2	.;.	V	23	ENSP00000379566:M23V;ENSP00000401039:M23V;ENSP00000402432:M23V	ENSP00000379566:M23V	M	-	1	0	CCHCR1	31233290	0.963000	0.33076	0.965000	0.40720	0.939000	0.58152	0.404000	0.20999	0.050000	0.15949	0.523000	0.50628	ATG	.	.		0.592	CCHCR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076190.5	NM_019052	
EHMT2	10919	hgsc.bcm.edu	37	6	31848833	31848833	+	Silent	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr6:31848833A>G	ENST00000375537.4	-	26	3240	c.3234T>C	c.(3232-3234)gaT>gaC	p.D1078D	EHMT2_ENST00000375530.4_Silent_p.D1044D|SLC44A4_ENST00000465707.1_5'Flank|EHMT2_ENST00000395728.3_Silent_p.D1135D|SLC44A4_ENST00000229729.6_5'Flank|EHMT2_ENST00000375528.4_Silent_p.D1101D|EHMT2_ENST00000480912.1_5'UTR|SLC44A4_ENST00000375562.4_5'Flank|EHMT2-AS1_ENST00000434689.1_RNA	NM_006709.3	NP_006700.3	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	1078	Interaction with histone H3. {ECO:0000250}.|SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				DNA methylation (GO:0006306)|DNA methylation on cytosine within a CG sequence (GO:0010424)|fertilization (GO:0009566)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ growth (GO:0035265)|peptidyl-lysine dimethylation (GO:0018027)|regulation of DNA replication (GO:0006275)|spermatid development (GO:0007286)|synaptonemal complex assembly (GO:0007130)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						CCTCTCTCACATCAGCCTCAG	0.557																																					p.D1078D		Atlas-SNP	.											.	EHMT2	45	.	0			c.T3234C						.						139.0	122.0	128.0					6																	31848833		1511	2709	4220	SO:0001819	synonymous_variant	10919	exon26			TCTCACATCAGCC	AF134726	CCDS4725.1, CCDS4726.1, CCDS75425.1	6p21.3	2013-01-10	2004-03-22	2005-06-09	ENSG00000204371	ENSG00000204371	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Ankyrin repeat domain containing"""	14129	protein-coding gene	gene with protein product		604599	"""chromosome 6 open reading frame 30"", ""HLA-B associated transcript 8"""	C6orf30, BAT8		8457211, 11316813	Standard	XM_005274833		Approved	G9A, Em:AF134726.3, NG36/G9a, KMT1C	uc003nxz.1	Q96KQ7	OTTHUMG00000031180	ENST00000375537.4:c.3234T>C	chr6.hg19:g.31848833A>G		118.0	0.0		90.0	4.0	NM_006709	B0UZY2|Q14349|Q5JP83|Q5JQ92|Q5JQA1|Q5JQG3|Q6PK06|Q96MH5|Q96QD0|Q9UQL8|Q9Y331	Silent	SNP	ENST00000375537.4	hg19	CCDS4725.1																																																																																			.	.		0.557	EHMT2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076355.5	NM_006709	
RXRB	6257	hgsc.bcm.edu	37	6	33162736	33162736	+	Silent	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr6:33162736A>G	ENST00000374680.3	-	9	1651	c.1440T>C	c.(1438-1440)ccT>ccC	p.P480P	RXRB_ENST00000544186.1_Silent_p.P294P|COL11A2_ENST00000374714.1_5'Flank|RXRB_ENST00000374685.4_Silent_p.P484P|COL11A2_ENST00000357486.1_5'Flank|COL11A2_ENST00000374713.1_5'Flank|COL11A2_ENST00000395194.1_5'Flank|COL11A2_ENST00000374712.1_5'Flank|COL11A2_ENST00000361917.1_5'Flank|COL11A2_ENST00000341947.2_5'Flank|COL11A2_ENST00000395197.1_5'Flank|COL11A2_ENST00000374708.4_5'Flank	NM_001270401.1|NM_021976.4	NP_001257330.1|NP_068811.1	P28702	RXRB_HUMAN	retinoid X receptor, beta	480	Ligand-binding. {ECO:0000250}.				cardiac muscle cell proliferation (GO:0060038)|cellular response to retinoic acid (GO:0071300)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|maternal placenta development (GO:0001893)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	9-cis retinoic acid receptor activity (GO:0004886)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(1)|skin(2)	15					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Tazarotene(DB00799)|Tretinoin(DB00755)	CCTGCTGCTCAGGGTACTTCT	0.607																																					p.P484P		Atlas-SNP	.											.	RXRB	34	.	0			c.T1452C						.						70.0	70.0	70.0					6																	33162736		1509	2709	4218	SO:0001819	synonymous_variant	6257	exon9			CTGCTCAGGGTAC	M84820	CCDS4768.1, CCDS59007.1	6p21.3	2013-01-16			ENSG00000204231	ENSG00000204231		"""Nuclear hormone receptors"""	10478	protein-coding gene	gene with protein product	"""nuclear receptor subfamily 2 group B member 2"""	180246				8257090	Standard	NM_021976		Approved	NR2B2, H-2RIIBP, RCoR-1	uc003odc.4	P28702	OTTHUMG00000031298	ENST00000374680.3:c.1440T>C	chr6.hg19:g.33162736A>G		294.0	0.0		171.0	8.0	NM_001270401	P28703|Q59G65|Q5JP92|Q5STQ1	Silent	SNP	ENST00000374680.3	hg19	CCDS4768.1																																																																																			.	.		0.607	RXRB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076642.2	NM_021976	
MAPK14	1432	hgsc.bcm.edu	37	6	36027094	36027094	+	Missense_Mutation	SNP	C	C	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr6:36027094C>T	ENST00000229794.4	+	3	663	c.275C>T	c.(274-276)cCt>cTt	p.P92L	MAPK14_ENST00000468133.1_Missense_Mutation_p.P15L|MAPK14_ENST00000310795.4_Missense_Mutation_p.P92L|MAPK14_ENST00000229795.3_Missense_Mutation_p.P92L	NM_139012.2|NM_139014.2	NP_620581.1|NP_620583.1	Q16539	MK14_HUMAN	mitogen-activated protein kinase 14	92	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cartilage condensation (GO:0001502)|cell morphogenesis (GO:0000902)|cell surface receptor signaling pathway (GO:0007166)|cellular component movement (GO:0006928)|cellular response to ionizing radiation (GO:0071479)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|chemotaxis (GO:0006935)|chondrocyte differentiation (GO:0002062)|DNA damage checkpoint (GO:0000077)|fatty acid oxidation (GO:0019395)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|mRNA metabolic process (GO:0016071)|muscle cell differentiation (GO:0042692)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myoblast differentiation involved in skeletal muscle regeneration (GO:0014835)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neurotrophin TRK receptor signaling pathway (GO:0048011)|osteoclast differentiation (GO:0030316)|p38MAPK cascade (GO:0038066)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of myoblast fusion (GO:1901741)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Ras protein signal transduction (GO:0007265)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to muramyl dipeptide (GO:0032495)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|signal transduction in response to DNA damage (GO:0042770)|skeletal muscle tissue development (GO:0007519)|stress-activated MAPK cascade (GO:0051403)|stress-induced premature senescence (GO:0090400)|striated muscle cell differentiation (GO:0051146)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|MAP kinase kinase activity (GO:0004708)|NFAT protein binding (GO:0051525)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|stomach(1)	16						GTTTTTACACCTGCAAGGTCT	0.338																																					p.P92L	Pancreas(20;8 363 26997 32430 36377 43317 49243 50560 51947)|Colon(176;951 1093 20177 30266 32328 34418 35271 44052 51610)	Atlas-SNP	.											.	MAPK14	75	.	0			c.C275T						.						156.0	150.0	152.0					6																	36027094		2203	4300	6503	SO:0001583	missense	1432	exon3			TTACACCTGCAAG	L35263	CCDS4815.1, CCDS4816.1, CCDS4817.1	6p21.3-p21.2	2011-06-09			ENSG00000112062	ENSG00000112062		"""Mitogen-activated protein kinase cascade / Kinases"""	6876	protein-coding gene	gene with protein product	"""p38 MAP kinase"""	600289		CSPB1, CSBP1, CSBP2		7997261	Standard	NM_139012		Approved	PRKM14, p38, Mxi2, PRKM15	uc003olq.3	Q16539	OTTHUMG00000159806	ENST00000229794.4:c.275C>T	chr6.hg19:g.36027094C>T	ENSP00000229794:p.Pro92Leu	162.0	0.0		86.0	4.0	NM_139012	A6ZJ92|A8K6P4|B0LPH0|B5TY32|O60776|Q13083|Q14084|Q8TDX0	Missense_Mutation	SNP	ENST00000229794.4	hg19	CCDS4816.1	.	.	.	.	.	.	.	.	.	.	C	32	5.185270	0.94885	.	.	ENSG00000112062	ENST00000229795;ENST00000229794;ENST00000468133;ENST00000310795;ENST00000472333	T;T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13;-0.13	5.7	5.7	0.88788	Serine/threonine-protein kinase-like domain (1);MAP kinase, conserved site (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.70806	0.3266	L	0.52759	1.655	0.80722	D	1	D;D;D;D;D	0.89917	0.998;1.0;0.999;0.998;0.999	D;D;D;D;D	0.80764	0.973;0.994;0.963;0.981;0.989	T	0.72972	-0.4129	10	0.87932	D	0	.	17.6208	0.88080	0.0:1.0:0.0:0.0	.	92;92;92;92;92	B5TY32;Q16539-4;Q16539;Q16539-2;Q16539-3	.;.;MK14_HUMAN;.;.	L	92;92;15;92;15	ENSP00000229795:P92L;ENSP00000229794:P92L;ENSP00000419837:P15L;ENSP00000308669:P92L;ENSP00000419141:P15L	ENSP00000229794:P92L	P	+	2	0	MAPK14	36135072	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.386000	0.79775	2.704000	0.92352	0.650000	0.86243	CCT	.	.		0.338	MAPK14-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000357450.1	NM_001315	
PXT1	222659	hgsc.bcm.edu	37	6	36359651	36359651	+	Splice_Site	SNP	C	C	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr6:36359651C>T	ENST00000454782.2	-	5	784	c.301G>A	c.(301-303)Gat>Aat	p.D101N	RP1-50J22.4_ENST00000411643.1_RNA	NM_152990.3	NP_694535.2	Q8NFP0	PXT1_HUMAN	peroxisomal, testis specific 1	101					positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|peroxisome (GO:0005777)											TGTTGAAGATCCTATTTGAAA	0.308																																					p.D101N		Atlas-SNP	.											PXT1,NS,malignant_melanoma,0,1	PXT1	6	.	0			c.G301A						.						81.0	82.0	82.0					6																	36359651		2203	4300	6503	SO:0001630	splice_region_variant	222659	exon5			GAAGATCCTATTT	AF486827	CCDS4820.2	6p21.31	2004-04-30			ENSG00000179165	ENSG00000179165			18312	protein-coding gene	gene with protein product							Standard	NM_152990		Approved	STEPP	uc003omd.2	Q8NFP0	OTTHUMG00000159815	ENST00000454782.2:c.301-1G>A	chr6.hg19:g.36359651C>T		57.0	1.0		35.0	2.0	NM_152990	J3KR74	Missense_Mutation	SNP	ENST00000454782.2	hg19	CCDS4820.2	.	.	.	.	.	.	.	.	.	.	C	9.083	0.999742	0.19121	.	.	ENSG00000179165	ENST00000454782;ENST00000538109	.	.	.	4.84	-1.34	0.09143	.	1.055970	0.07520	N	0.910443	T	0.10078	0.0247	.	.	.	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.32719	-0.9896	8	0.37606	T	0.19	1.4054	5.0904	0.14706	0.0:0.392:0.1566:0.4514	.	18	Q8NFP0	PXT1_HUMAN	N	101;18	.	ENSP00000419944:D101N	D	-	1	0	PXT1	36467629	0.007000	0.16637	0.010000	0.14722	0.037000	0.13140	-0.457000	0.06745	-0.412000	0.07519	0.655000	0.94253	GAT	.	.		0.308	PXT1-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000357516.2	NM_152990	Missense_Mutation
MTCH1	23787	hgsc.bcm.edu	37	6	36946282	36946282	+	Splice_Site	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr6:36946282T>C	ENST00000373627.5	-	3	636	c.512A>G	c.(511-513)aAg>aGg	p.K171R	MTCH1_ENST00000538808.1_Splice_Site_p.K15R|MTCH1_ENST00000373616.5_Splice_Site_p.K171R	NM_001271641.1	NP_001258570.1	Q9NZJ7	MTCH1_HUMAN	mitochondrial carrier 1	171					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|neuronal ion channel clustering (GO:0045161)|positive regulation of apoptotic process (GO:0043065)|regulation of signal transduction (GO:0009966)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	6						TGGGCTCACCTTCTTCATGCT	0.587																																					p.K171R		Atlas-SNP	.											.	MTCH1	24	.	0			c.A512G						.						119.0	98.0	105.0					6																	36946282		2203	4300	6503	SO:0001630	splice_region_variant	23787	exon3			CTCACCTTCTTCA	AF151822	CCDS4828.1, CCDS64411.1	6p21.2	2013-05-22	2011-05-19		ENSG00000137409	ENSG00000137409		"""Solute carriers"""	17586	protein-coding gene	gene with protein product	"""solute carrier family 25, member 49"""	610449	"""mitochondrial carrier homolog 1 (C. elegans)"""			12377771	Standard	NM_014341		Approved	CGI-64, PSAP, SLC25A49	uc003ond.2	Q9NZJ7	OTTHUMG00000014614	ENST00000373627.5:c.513+1A>G	chr6.hg19:g.36946282T>C		123.0	0.0		100.0	4.0	NM_014341	A8KAX5|B2RCE3|Q6PK60|Q6UX45|Q7L465|Q9BW23|Q9NZR6|Q9UJZ5	Missense_Mutation	SNP	ENST00000373627.5	hg19		.	.	.	.	.	.	.	.	.	.	T	15.30	2.792815	0.50102	.	.	ENSG00000137409	ENST00000373616;ENST00000373627;ENST00000337855;ENST00000373550;ENST00000460219;ENST00000538808	T;T;T;T	0.63913	1.0;1.0;1.0;-0.07	5.71	5.71	0.89125	Mitochondrial carrier domain (2);	0.000000	0.64402	D	0.000012	T	0.31734	0.0806	N	0.17723	0.515	0.33307	D	0.565577	P;P;B;B	0.49090	0.779;0.919;0.267;0.27	B;B;B;B	0.39339	0.141;0.297;0.086;0.103	T	0.31081	-0.9956	10	0.35671	T	0.21	-3.9503	14.5397	0.67984	0.0:0.0:0.0:1.0	.	15;153;171;171	B4E0C5;Q8IW90;Q9NZJ7;Q9NZJ7-2	.;.;MTCH1_HUMAN;.	R	171;171;107;107;155;15	ENSP00000362718:K171R;ENSP00000362730:K171R;ENSP00000419739:K155R;ENSP00000437660:K15R	ENSP00000338712:K107R	K	-	2	0	MTCH1	37054260	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	4.281000	0.58965	2.179000	0.69175	0.533000	0.62120	AAG	.	.		0.587	MTCH1-008	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000040396.1	NM_014341	Missense_Mutation
LRFN2	57497	hgsc.bcm.edu	37	6	40360061	40360061	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr6:40360061T>C	ENST00000338305.6	-	3	2533	c.1991A>G	c.(1990-1992)gAc>gGc	p.D664G		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	664						cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					ACTCTTGAGGTCCAGGGAGGC	0.721																																					p.D664G		Atlas-SNP	.											.	LRFN2	133	.	0			c.A1991G						.						10.0	12.0	11.0					6																	40360061		2174	4234	6408	SO:0001583	missense	57497	exon3			TTGAGGTCCAGGG	AB033072	CCDS34443.1	6p21.2-p21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000156564	ENSG00000156564		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	21226	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 2"""	612808	"""KIAA1246"""	KIAA1246, SALM1		16495444, 16828986	Standard	NM_020737		Approved	FIGLER2	uc003oph.1	Q9ULH4	OTTHUMG00000014662	ENST00000338305.6:c.1991A>G	chr6.hg19:g.40360061T>C	ENSP00000345985:p.Asp664Gly	185.0	0.0		102.0	5.0	NM_020737	A5PKU3|Q5SYP9	Missense_Mutation	SNP	ENST00000338305.6	hg19	CCDS34443.1	.	.	.	.	.	.	.	.	.	.	T	14.06	2.421376	0.42918	.	.	ENSG00000156564	ENST00000338305	T	0.57107	0.42	4.78	4.78	0.61160	.	0.102946	0.64402	D	0.000003	T	0.18341	0.0440	N	0.14661	0.345	0.43637	D	0.996038	P	0.37781	0.608	B	0.32289	0.143	T	0.07731	-1.0757	10	0.29301	T	0.29	.	13.2662	0.60135	0.0:0.0:0.0:1.0	.	664	Q9ULH4	LRFN2_HUMAN	G	664	ENSP00000345985:D664G	ENSP00000345985:D664G	D	-	2	0	LRFN2	40468039	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	4.795000	0.62489	2.012000	0.59069	0.454000	0.30748	GAC	.	.		0.721	LRFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040488.1	XM_166372	
TBCC	6903	hgsc.bcm.edu	37	6	42713354	42713354	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr6:42713354T>C	ENST00000372876.1	-	1	480	c.458A>G	c.(457-459)gAc>gGc	p.D153G	TBCC_ENST00000244625.2_Missense_Mutation_p.D153G	NM_003192.2	NP_003183	Q15814	TBCC_HUMAN	tubulin folding cofactor C	153					'de novo' posttranslational protein folding (GO:0051084)|cell morphogenesis (GO:0000902)|cellular protein metabolic process (GO:0044267)|GTP catabolic process (GO:0006184)|post-chaperonin tubulin folding pathway (GO:0007023)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)	chaperone binding (GO:0051087)|GTPase activity (GO:0003924)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(3)	14	Colorectal(47;0.196)		all cancers(41;0.00122)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.125)			AGGAGCCGCGTCTACTTTGGT	0.652																																					p.D153G		Atlas-SNP	.											.	TBCC	31	.	0			c.A458G						.						14.0	16.0	15.0					6																	42713354		2197	4294	6491	SO:0001583	missense	6903	exon1			GCCGCGTCTACTT	U61234	CCDS4872.1	6p21.1	2008-02-05	2006-11-21		ENSG00000124659	ENSG00000124659			11580	protein-coding gene	gene with protein product		602971	"""tubulin-specific chaperone c"""			8706133, 11847227	Standard	NM_003192		Approved	CFC	uc003osl.3	Q15814	OTTHUMG00000014704	ENST00000372876.1:c.458A>G	chr6.hg19:g.42713354T>C	ENSP00000361967:p.Asp153Gly	91.0	0.0		94.0	4.0	NM_003192	Q53Y43|Q5T787	Missense_Mutation	SNP	ENST00000372876.1	hg19	CCDS4872.1	.	.	.	.	.	.	.	.	.	.	T	4.451	0.083524	0.08533	.	.	ENSG00000124659	ENST00000372876;ENST00000244625	T;T	0.76709	-1.04;-1.04	5.48	-4.26	0.03755	.	0.958455	0.08599	N	0.921836	T	0.37265	0.0997	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.23655	-1.0182	10	0.24483	T	0.36	-8.6114	7.6599	0.28396	0.0:0.2801:0.3922:0.3277	.	153	Q15814	TBCC_HUMAN	G	153	ENSP00000361967:D153G;ENSP00000244625:D153G	ENSP00000244625:D153G	D	-	2	0	TBCC	42821332	0.000000	0.05858	0.000000	0.03702	0.269000	0.26545	0.155000	0.16362	-0.369000	0.08028	-1.098000	0.02139	GAC	.	.		0.652	TBCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040559.1	NM_003192	
DLK2	65989	hgsc.bcm.edu	37	6	43419708	43419708	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr6:43419708T>C	ENST00000357338.3	-	5	1086	c.386A>G	c.(385-387)gAg>gGg	p.E129G	DLK2_ENST00000372485.1_Missense_Mutation_p.E123G|DLK2_ENST00000414245.1_Missense_Mutation_p.E123G|DLK2_ENST00000372488.3_Missense_Mutation_p.E129G	NM_206539.1	NP_996262.1	Q6UY11	DLK2_HUMAN	delta-like 2 homolog (Drosophila)	129	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				negative regulation of Notch signaling pathway (GO:0045746)|regulation of fat cell differentiation (GO:0045598)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	7	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			AGCCTTGCGCTCGCAGTCACG	0.597																																					p.E129G		Atlas-SNP	.											.	DLK2	22	.	0			c.A386G						.						114.0	81.0	92.0					6																	43419708		2203	4300	6503	SO:0001583	missense	65989	exon5			TTGCGCTCGCAGT	AK055380	CCDS4897.1, CCDS75461.1	6p21.1	2008-02-05	2007-07-05	2007-07-05	ENSG00000171462	ENSG00000171462			21113	protein-coding gene	gene with protein product			"""EGF-like-domain, multiple 9"""	EGFL9			Standard	NM_001286656		Approved	MGC2487	uc003ovb.3	Q6UY11	OTTHUMG00000014735	ENST00000357338.3:c.386A>G	chr6.hg19:g.43419708T>C	ENSP00000349893:p.Glu129Gly	83.0	0.0		49.0	4.0	NM_023932	B3KNZ7|Q5T3T8|Q9BQ54	Missense_Mutation	SNP	ENST00000357338.3	hg19	CCDS4897.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	21.5|21.5	4.163986|4.163986	0.78339|0.78339	.|.	.|.	ENSG00000171462|ENSG00000171462	ENST00000372485;ENST00000372488;ENST00000372496;ENST00000357338;ENST00000414245|ENST00000430324	D;D;D;D|.	0.87729|.	-2.29;-2.29;-2.29;-2.29|.	4.45|4.45	4.45|4.45	0.53987|0.53987	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);|.	0.069823|.	0.64402|.	D|.	0.000012|.	T|T	0.69611|0.69611	0.3130|0.3130	M|M	0.81802|0.81802	2.56|2.56	0.58432|0.58432	D|D	0.999995|0.999995	D|.	0.76494|.	0.999|.	D|.	0.63597|.	0.916|.	T|T	0.73116|0.73116	-0.4084|-0.4084	10|5	0.87932|.	D|.	0|.	.|.	14.1435|14.1435	0.65334|0.65334	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	129|.	Q6UY11|.	DLK2_HUMAN|.	G|G	123;129;129;129;123|35	ENSP00000361563:E123G;ENSP00000361566:E129G;ENSP00000349893:E129G;ENSP00000398906:E123G|.	ENSP00000349893:E129G|.	E|S	-|-	2|1	0|0	DLK2|DLK2	43527686|43527686	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.991000|0.991000	0.79684|0.79684	4.898000|4.898000	0.63238|0.63238	1.990000|1.990000	0.58119|0.58119	0.374000|0.374000	0.22700|0.22700	GAG|AGC	.	.		0.597	DLK2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040618.1	NM_023932	
TDRD6	221400	hgsc.bcm.edu	37	6	46657993	46657993	+	Missense_Mutation	SNP	G	G	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr6:46657993G>A	ENST00000316081.6	+	1	2128	c.2128G>A	c.(2128-2130)Gcc>Acc	p.A710T	RP11-446F17.3_ENST00000571590.1_RNA|RP11-446F17.3_ENST00000422284.2_RNA|TDRD6_ENST00000544460.1_Missense_Mutation_p.A710T|RP11-446F17.3_ENST00000434329.2_RNA	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	710					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			AGAGCAGAAAGCCAAGAGAGA	0.413																																					p.A710T		Atlas-SNP	.											.	TDRD6	205	.	0			c.G2128A						.						40.0	41.0	40.0					6																	46657993		2203	4300	6503	SO:0001583	missense	221400	exon1			CAGAAAGCCAAGA	AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"""Tudor domain containing"""	21339	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.2"", ""spermatogenesis associated 36"""	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.2128G>A	chr6.hg19:g.46657993G>A	ENSP00000346065:p.Ala710Thr	272.0	0.0		197.0	60.0	NM_001168359	B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Missense_Mutation	SNP	ENST00000316081.6	hg19	CCDS34470.1	.	.	.	.	.	.	.	.	.	.	G	13.40	2.226105	0.39300	.	.	ENSG00000180113	ENST00000544460;ENST00000316081	T;T	0.14516	2.5;2.5	5.85	1.51	0.23008	.	1.271800	0.04881	N	0.447652	T	0.02727	0.0082	L	0.44542	1.39	0.09310	N	1	B;B	0.16802	0.019;0.014	B;B	0.12156	0.007;0.004	T	0.40515	-0.9559	10	0.11794	T	0.64	-2.727	1.661	0.02792	0.2038:0.2613:0.3996:0.1354	.	710;710	F5H5M3;O60522	.;TDRD6_HUMAN	T	710	ENSP00000443299:A710T;ENSP00000346065:A710T	ENSP00000346065:A710T	A	+	1	0	TDRD6	46765952	0.000000	0.05858	0.020000	0.16555	0.676000	0.39594	0.398000	0.20899	0.275000	0.22094	0.655000	0.94253	GCC	.	.		0.413	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1	XM_166443	
RIMS1	22999	hgsc.bcm.edu	37	6	72968750	72968750	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr6:72968750T>C	ENST00000521978.1	+	18	2989	c.2989T>C	c.(2989-2991)Tcc>Ccc	p.S997P	RIMS1_ENST00000401910.3_Missense_Mutation_p.S470P|RIMS1_ENST00000538414.1_5'UTR|RIMS1_ENST00000517960.1_Missense_Mutation_p.S996P|RIMS1_ENST00000518273.1_Missense_Mutation_p.S997P|RIMS1_ENST00000520567.1_Missense_Mutation_p.S996P|RIMS1_ENST00000491071.2_Missense_Mutation_p.S997P|RIMS1_ENST00000517827.1_Missense_Mutation_p.S456P|RIMS1_ENST00000522291.1_Missense_Mutation_p.S996P|RIMS1_ENST00000264839.7_Missense_Mutation_p.S997P|RIMS1_ENST00000523963.1_Missense_Mutation_p.S471P|RIMS1_ENST00000348717.5_Missense_Mutation_p.S996P|RIMS1_ENST00000425662.2_Missense_Mutation_p.S390P	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	997					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				CCATGATGCCTCCCGAAGTCC	0.358																																					p.S997P		Atlas-SNP	.											.	RIMS1	278	.	0			c.T2989C						.						131.0	131.0	131.0					6																	72968750		1933	4125	6058	SO:0001583	missense	22999	exon18			GATGCCTCCCGAA	AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"""Rab3-interacting molecule"""	606629	"""RAB3 interacting protein 2"""	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.2989T>C	chr6.hg19:g.72968750T>C	ENSP00000428417:p.Ser997Pro	138.0	0.0		80.0	4.0	NM_014989	A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Missense_Mutation	SNP	ENST00000521978.1	hg19	CCDS47449.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	20.2|20.2	3.958303|3.958303	0.73902|0.73902	.|.	.|.	ENSG00000079841|ENSG00000079841	ENST00000517433|ENST00000491071;ENST00000350827;ENST00000352008;ENST00000348717;ENST00000349908;ENST00000346609;ENST00000264839;ENST00000517960;ENST00000518273;ENST00000520567;ENST00000522291;ENST00000521978;ENST00000401910;ENST00000523963;ENST00000425662;ENST00000453976;ENST00000517827;ENST00000370420	.|T;T;T;T;T;T;T;T;T;T;T;T;T;T	.|0.19105	.|2.44;2.47;2.55;2.47;2.57;2.57;2.52;2.53;2.6;2.54;2.6;2.28;2.58;2.17	5.41|5.41	5.41|5.41	0.78517|0.78517	.|.	.|0.000000	.|0.64402	.|D	.|0.000005	T|T	0.29355|0.29355	0.0731|0.0731	L|L	0.43152|0.43152	1.355|1.355	0.80722|0.80722	D|D	1|1	.|P;D;D;D;P;D;P;D;D;P;D;D	.|0.76494	.|0.932;0.967;0.999;0.979;0.612;0.962;0.793;0.996;0.987;0.937;0.999;0.997	.|B;D;D;P;B;P;B;P;D;P;D;P	.|0.79784	.|0.296;0.91;0.993;0.627;0.222;0.701;0.119;0.86;0.958;0.579;0.993;0.899	T|T	0.02698|0.02698	-1.1122|-1.1122	5|10	.|0.52906	.|T	.|0.07	-12.7919|-12.7919	15.7332|15.7332	0.77822|0.77822	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|456;471;997;456;470;996;249;997;996;250;997;997	.|B7Z3S3;E9PHF5;E9PHR1;B7Z9Z3;E9PF48;E7EX08;Q5JY22;E7ERQ1;E7ENC2;Q5JY21;C9JNW6;Q86UR5	.|.;.;.;.;.;.;.;.;.;.;.;RIMS1_HUMAN	P|P	570|997;997;997;996;997;996;997;996;997;996;996;997;470;471;390;390;456;222	.|ENSP00000430101:S997P;ENSP00000275037:S996P;ENSP00000264839:S997P;ENSP00000429959:S996P;ENSP00000430408:S997P;ENSP00000430502:S996P;ENSP00000430932:S996P;ENSP00000428417:S997P;ENSP00000385649:S470P;ENSP00000428328:S471P;ENSP00000411235:S390P;ENSP00000389503:S390P;ENSP00000428367:S456P;ENSP00000359448:S222P	.|ENSP00000264839:S997P	L|S	+|+	2|1	0|0	RIMS1|RIMS1	73025471|73025471	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.932000|0.932000	0.56968|0.56968	5.764000|5.764000	0.68826|0.68826	2.182000|2.182000	0.69389|0.69389	0.460000|0.460000	0.39030|0.39030	CTC|TCC	.	.		0.358	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1		
C6orf165	154313	hgsc.bcm.edu	37	6	88123541	88123541	+	Missense_Mutation	SNP	G	G	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr6:88123541G>T	ENST00000507897.1	+	4	289	c.206G>T	c.(205-207)cGg>cTg	p.R69L	C6ORF165_ENST00000369562.4_Missense_Mutation_p.R69L			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	69										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		TGTATGACTCGGCTATTGGAT	0.318																																					p.R69L		Atlas-SNP	.											C6orf165_ENST00000369562,caecum,carcinoma,0,2	C6orf165	116	.	0			c.G206T						.						84.0	82.0	83.0					6																	88123541		2203	4296	6499	SO:0001583	missense	154313	exon4			TGACTCGGCTATT	BC035083	CCDS34498.1	6q15	2012-02-07			ENSG00000213204	ENSG00000213204			21405	protein-coding gene	gene with protein product							Standard	NM_001031743		Approved	FLJ25974, dJ382I10.1	uc003plv.3	Q8IYR0	OTTHUMG00000015173	ENST00000507897.1:c.206G>T	chr6.hg19:g.88123541G>T	ENSP00000426769:p.Arg69Leu	135.0	1.0		102.0	5.0	NM_001031743	A8K969|E1P507|Q8N9U4	Missense_Mutation	SNP	ENST00000507897.1	hg19	CCDS34498.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.250606	0.80135	.	.	ENSG00000213204	ENST00000369562;ENST00000480123	T;T	0.34072	1.38;1.39	5.44	4.56	0.56223	.	0.052025	0.85682	D	0.000000	T	0.47728	0.1461	M	0.73319	2.225	0.51233	D	0.99991	D;D	0.76494	0.999;0.976	D;P	0.65874	0.939;0.703	T	0.41305	-0.9516	10	0.42905	T	0.14	.	14.2545	0.66043	0.0741:0.0:0.9259:0.0	.	69;69	Q8IYR0;E1P509	CF165_HUMAN;.	L	69	ENSP00000358575:R69L;ENSP00000422494:R69L	ENSP00000358575:R69L	R	+	2	0	C6orf165	88180260	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.718000	0.61930	2.544000	0.85801	0.484000	0.47621	CGG	.	.		0.318	C6orf165-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000470406.1	NM_178823	
CNR1	1268	hgsc.bcm.edu	37	6	88854629	88854629	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr6:88854629A>G	ENST00000537554.1	-	2	3927	c.365T>C	c.(364-366)cTg>cCg	p.L122P	CNR1_ENST00000535130.1_Missense_Mutation_p.L122P|CNR1_ENST00000549716.1_Missense_Mutation_p.L61P|CNR1_ENST00000549890.1_Missense_Mutation_p.L122P|CNR1_ENST00000369501.2_Missense_Mutation_p.L122P|CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000428600.2_Missense_Mutation_p.L122P|CNR1_ENST00000468898.1_Missense_Mutation_p.L89P|CNR1_ENST00000369499.2_Missense_Mutation_p.L122P	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	122					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|negative regulation of action potential (GO:0045759)|negative regulation of blood pressure (GO:0045776)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of mast cell activation (GO:0033004)|negative regulation of nitric-oxide synthase activity (GO:0051001)|positive regulation of acute inflammatory response to antigenic stimulus (GO:0002866)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood pressure (GO:0045777)|positive regulation of fever generation (GO:0031622)|positive regulation of neuron projection development (GO:0010976)|regulation of feeding behavior (GO:0060259)|regulation of insulin secretion (GO:0050796)|regulation of penile erection (GO:0060405)|regulation of synaptic transmission, GABAergic (GO:0032228)|regulation of synaptic transmission, glutamatergic (GO:0051966)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|sensory perception of pain (GO:0019233)|spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cannabinoid receptor activity (GO:0004949)|drug binding (GO:0008144)			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Dronabinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	CGTGAGGGACAGGACTGCAAT	0.582																																					p.L122P		Atlas-SNP	.											.	CNR1	91	.	0			c.T365C						.						60.0	53.0	55.0					6																	88854629		2203	4300	6503	SO:0001583	missense	1268	exon4			AGGGACAGGACTG	AF107262	CCDS5015.1, CCDS5016.1, CCDS5016.2	6q14-q15	2012-08-08			ENSG00000118432	ENSG00000118432		"""GPCR / Class A : Cannabinoid receptors"""	2159	protein-coding gene	gene with protein product		114610		CNR			Standard	NM_016083		Approved	CB1K5, CB-R, CB1, CANN6, CB1A	uc003pmq.4	P21554	OTTHUMG00000015184	ENST00000537554.1:c.365T>C	chr6.hg19:g.88854629A>G	ENSP00000441046:p.Leu122Pro	107.0	0.0		73.0	5.0	NM_001160258	B2R9T4|E1P512|Q13949|Q495Z0|Q4PLI4|Q4VBM6|Q5JVL5|Q5UB37|Q9UNN0	Missense_Mutation	SNP	ENST00000537554.1	hg19	CCDS5015.1	.	.	.	.	.	.	.	.	.	.	A	17.84	3.487157	0.63962	.	.	ENSG00000118432	ENST00000369501;ENST00000535130;ENST00000537554;ENST00000369499;ENST00000549890;ENST00000468898;ENST00000428600;ENST00000549716	T;T;T;T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92	5.77	5.77	0.91146	.	0.067648	0.64402	D	0.000014	T	0.55513	0.1925	M	0.67397	2.05	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.70487	0.925;0.969	T	0.61153	-0.7120	10	0.87932	D	0	.	16.1022	0.81184	1.0:0.0:0.0:0.0	.	89;122	P21554-3;P21554	.;CNR1_HUMAN	P	122;122;122;122;122;89;122;61	ENSP00000358513:L122P;ENSP00000442689:L122P;ENSP00000441046:L122P;ENSP00000358511:L122P;ENSP00000446819:L122P;ENSP00000420188:L89P;ENSP00000412192:L122P;ENSP00000449549:L61P	ENSP00000358511:L122P	L	-	2	0	CNR1	88911348	1.000000	0.71417	0.996000	0.52242	0.956000	0.61745	9.339000	0.96797	2.205000	0.71048	0.460000	0.39030	CTG	.	.		0.582	CNR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354204.2		
MDN1	23195	hgsc.bcm.edu	37	6	90438701	90438701	+	Silent	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr6:90438701T>C	ENST00000369393.3	-	36	5413	c.5298A>G	c.(5296-5298)ttA>ttG	p.L1766L	MDN1_ENST00000428876.1_Silent_p.L1766L			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	1766					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		AAGCCTTTGCTAATGCTCCCA	0.458																																					p.L1766L		Atlas-SNP	.											.	MDN1	478	.	0			c.A5298G						.						121.0	111.0	115.0					6																	90438701		2203	4300	6503	SO:0001819	synonymous_variant	23195	exon36			CTTTGCTAATGCT	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.5298A>G	chr6.hg19:g.90438701T>C		170.0	0.0		99.0	4.0	NM_014611	O15019|Q5T794	Silent	SNP	ENST00000369393.3	hg19	CCDS5024.1																																																																																			.	.		0.458	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2		
NR2E1	7101	hgsc.bcm.edu	37	6	108497813	108497813	+	Silent	SNP	G	G	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr6:108497813G>A	ENST00000368986.4	+	4	1074	c.366G>A	c.(364-366)tcG>tcA	p.S122S	NR2E1_ENST00000484978.1_3'UTR|NR2E1_ENST00000368983.3_Silent_p.S159S	NM_003269.3	NP_003260.1	Q9Y466	NR2E1_HUMAN	nuclear receptor subfamily 2, group E, member 1	122					aggressive behavior (GO:0002118)|amygdala development (GO:0021764)|anterior commissure morphogenesis (GO:0021960)|behavioral fear response (GO:0001662)|cell fate commitment (GO:0045165)|cerebral cortex neuron differentiation (GO:0021895)|dentate gyrus development (GO:0021542)|extracellular matrix organization (GO:0030198)|forebrain generation of neurons (GO:0021872)|gene expression (GO:0010467)|glial cell migration (GO:0008347)|layer formation in cerebral cortex (GO:0021819)|long-term synaptic potentiation (GO:0060291)|negative regulation of apoptotic process (GO:0043066)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|olfactory bulb development (GO:0021772)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle (GO:0045787)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of stem cell proliferation (GO:2000648)|regulation of cell migration involved in sprouting angiogenesis (GO:0090049)|regulation of dendrite morphogenesis (GO:0048814)|regulation of timing of neuron differentiation (GO:0060164)|retina development in camera-type eye (GO:0060041)|social behavior (GO:0035176)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|visual perception (GO:0007601)	nucleoplasm (GO:0005654)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.S122S(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(16)|prostate(1)|skin(3)	30		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)		ACTTTCCCTCGGCGGCGCTCC	0.711																																					p.S122S		Atlas-SNP	.											NR2E1,NS,carcinoma,+1,1	NR2E1	57	.	1	Substitution - coding silent(1)	lung(1)	c.G366A						.						21.0	22.0	22.0					6																	108497813		2201	4297	6498	SO:0001819	synonymous_variant	7101	exon4			TCCCTCGGCGGCG	Y13276	CCDS5063.1, CCDS69165.1	6q21	2013-01-16			ENSG00000112333	ENSG00000112333		"""Nuclear hormone receptors"""	7973	protein-coding gene	gene with protein product		603849		TLX		9628820	Standard	NM_003269		Approved	TLL, XTLL	uc003psg.3	Q9Y466	OTTHUMG00000015319	ENST00000368986.4:c.366G>A	chr6.hg19:g.108497813G>A		91.0	0.0		52.0	3.0	NM_003269	Q6ZMP8	Silent	SNP	ENST00000368986.4	hg19	CCDS5063.1																																																																																			.	.		0.711	NR2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041712.2		
AK9	221264	hgsc.bcm.edu	37	6	109837261	109837261	+	Silent	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr6:109837261A>G	ENST00000424296.2	-	31	3940	c.3864T>C	c.(3862-3864)taT>taC	p.Y1288Y		NM_001145128.2	NP_001138600.2	Q5TCS8	KAD9_HUMAN	adenylate kinase 9	1288					ADP phosphorylation (GO:0006757)|AMP phosphorylation (GO:0006756)|CDP phosphorylation (GO:0061508)|CMP phosphorylation (GO:0061566)|dADP phosphorylation (GO:0006174)|dAMP phosphorylation (GO:0061565)|dCDP phosphorylation (GO:0061570)|dCMP phosphorylation (GO:0061567)|dGDP phosphorylation (GO:0006186)|GDP phosphorylation (GO:0061568)|TDP phosphorylation (GO:0061571)|UDP phosphorylation (GO:0061569)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside phosphate kinase activity (GO:0050145)										TTGGTATCAAATACCTCTCAA	0.348																																					p.Y1288Y		Atlas-SNP	.											.	AKD1	223	.	0			c.T3864C						.						172.0	144.0	153.0					6																	109837261		692	1591	2283	SO:0001819	synonymous_variant	221264	exon31			TATCAAATACCTC	AK131244, BC146443, BC087860	CCDS5077.1, CCDS55048.1	6q21	2013-04-29	2013-04-29	2013-04-29			2.7.4.3		33814	protein-coding gene	gene with protein product		615358	"""chromosome 6 open reading frame 224"", ""adenylate kinase domain containing 2"", ""chromosome 6 open reading frame 199"", ""adenylate kinase domain containing 1"""	C6orf224, AKD2, C6orf199, AKD1		23416111	Standard	NM_145025		Approved	FLJ42177, FLJ25791, dJ70A9.1, MGC26954		Q5TCS8		ENST00000424296.2:c.3864T>C	chr6.hg19:g.109837261A>G		184.0	0.0		95.0	4.0	NM_001145128	A6NL75|B2RDJ0|B6ZDM7|Q3MIS4|Q5I0W8|Q6ZNF1|Q6ZVR7|Q8N7C6|Q8WW00|Q96NF4	Silent	SNP	ENST00000424296.2	hg19	CCDS55048.1	.	.	.	.	.	.	.	.	.	.	A	0.010	-1.781282	0.00634	.	.	ENSG00000155085	ENST00000470564	.	.	.	5.94	2.17	0.27698	.	.	.	.	.	T	0.08802	0.0218	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.24657	-1.0154	4	.	.	.	.	1.7344	0.02938	0.5603:0.1056:0.1555:0.1787	.	.	.	.	T	126	.	.	I	-	2	0	AKD1	109943954	0.000000	0.05858	0.035000	0.18076	0.043000	0.13939	0.009000	0.13219	1.081000	0.41110	0.528000	0.53228	ATT	.	.		0.348	AK9-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001145128	
REV3L	5980	hgsc.bcm.edu	37	6	111697828	111697828	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr6:111697828A>G	ENST00000358835.3	-	14	2184	c.1730T>C	c.(1729-1731)tTt>tCt	p.F577S	REV3L_ENST00000368802.3_Missense_Mutation_p.F577S|REV3L_ENST00000368805.1_Missense_Mutation_p.F577S|REV3L_ENST00000435970.1_Missense_Mutation_p.F499S			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	577					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TTTACACTGAAAGGTAATCTT	0.373								DNA polymerases (catalytic subunits)																													p.F577S		Atlas-SNP	.											.	REV3L	386	.	0			c.T1730C						.						116.0	115.0	115.0					6																	111697828		2203	4300	6503	SO:0001583	missense	5980	exon13			CACTGAAAGGTAA	AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"""DNA polymerases"""	9968	protein-coding gene	gene with protein product	"""polymerase, DNA, zeta"""	602776	"""REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta"", ""REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"""			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.1730T>C	chr6.hg19:g.111697828A>G	ENSP00000351697:p.Phe577Ser	96.0	0.0		67.0	4.0	NM_002912	O43214|Q5TC33	Missense_Mutation	SNP	ENST00000358835.3	hg19	CCDS5091.2	.	.	.	.	.	.	.	.	.	.	A	17.00	3.276735	0.59758	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970	T;T;T;T	0.01527	4.89;4.89;4.89;4.8	5.38	5.38	0.77491	Ribonuclease H-like (1);	0.432027	0.24377	N	0.039055	T	0.02156	0.0067	L	0.27053	0.805	0.39486	D	0.967969	D	0.71674	0.998	P	0.59115	0.852	T	0.66540	-0.5898	10	0.52906	T	0.07	-11.9442	15.3959	0.74794	1.0:0.0:0.0:0.0	.	577	O60673	DPOLZ_HUMAN	S	577;577;577;499	ENSP00000357792:F577S;ENSP00000357795:F577S;ENSP00000351697:F577S;ENSP00000402003:F499S	ENSP00000351697:F577S	F	-	2	0	REV3L	111804521	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.005000	0.63972	2.035000	0.60131	0.460000	0.39030	TTT	.	.		0.373	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	NM_002912	
DSE	29940	hgsc.bcm.edu	37	6	116757735	116757735	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr6:116757735G>T	ENST00000331677.3	+	7	2548	c.2104G>T	c.(2104-2106)Gag>Tag	p.E702*	DSE_ENST00000359564.2_Nonsense_Mutation_p.E702*|DSE_ENST00000537543.1_Nonsense_Mutation_p.E721*|DSE_ENST00000452085.3_Nonsense_Mutation_p.E702*			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	702					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin-glucuronate 5-epimerase activity (GO:0047757)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		GTGGACAGGTGAGGCCACAGG	0.502																																					p.E702X		Atlas-SNP	.											.	DSE	98	.	0			c.G2104T						.						109.0	105.0	106.0					6																	116757735		2203	4300	6503	SO:0001587	stop_gained	29940	exon6			ACAGGTGAGGCCA	AF098066	CCDS5107.1	6q22	2008-02-05	2007-01-29	2007-01-29	ENSG00000111817	ENSG00000111817	5.1.3.19		21144	protein-coding gene	gene with protein product		605942	"""squamous cell carcinoma antigen recognized by T cells 2"""	SART2		11920522, 16505484	Standard	NM_001080976		Approved	DSEPI	uc003pws.3	Q9UL01	OTTHUMG00000015434	ENST00000331677.3:c.2104G>T	chr6.hg19:g.116757735G>T	ENSP00000332151:p.Glu702*	56.0	0.0		60.0	4.0	NM_001080976	Q5R3K6	Nonsense_Mutation	SNP	ENST00000331677.3	hg19	CCDS5107.1	.	.	.	.	.	.	.	.	.	.	G	36	5.652632	0.96724	.	.	ENSG00000111817	ENST00000452085;ENST00000537543;ENST00000331677;ENST00000359564	.	.	.	6.06	6.06	0.98353	.	0.096044	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-15.7715	20.6397	0.99537	0.0:0.0:1.0:0.0	.	.	.	.	X	702;721;702;702	.	ENSP00000332151:E702X	E	+	1	0	DSE	116864428	1.000000	0.71417	0.423000	0.26634	0.466000	0.32739	7.512000	0.81728	2.880000	0.98712	0.650000	0.86243	GAG	.	.		0.502	DSE-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041940.2	NM_013352	
GPRC6A	222545	hgsc.bcm.edu	37	6	117114093	117114093	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr6:117114093T>C	ENST00000310357.3	-	6	2014	c.1993A>G	c.(1993-1995)Atg>Gtg	p.M665V	GPRC6A_ENST00000368549.3_Missense_Mutation_p.M594V|GPRC6A_ENST00000530250.1_Missense_Mutation_p.M490V	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, class C, group 6, member A	665					calcium-mediated signaling (GO:0019722)|response to amino acid (GO:0043200)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		ACTCCAAACATTGTCTGCCTG	0.403																																					p.M665V		Atlas-SNP	.											.	GPRC6A	152	.	0			c.A1993G						.						112.0	100.0	104.0					6																	117114093		2203	4300	6503	SO:0001583	missense	222545	exon6			CAAACATTGTCTG	AF502962	CCDS5112.1, CCDS69184.1, CCDS69185.1	6q22.31	2014-01-30	2014-01-30		ENSG00000173612	ENSG00000173612		"""GPCR / Class C : Calcium-sensing receptors"""	18510	protein-coding gene	gene with protein product			"""G protein-coupled receptor, family C, group 6, member A"""				Standard	NM_001286354		Approved	bA86F4.3	uc003pxj.1	Q5T6X5	OTTHUMG00000015447	ENST00000310357.3:c.1993A>G	chr6.hg19:g.117114093T>C	ENSP00000309493:p.Met665Val	159.0	0.0		90.0	5.0	NM_148963	Q6JK43|Q6JK44|Q8NGU8|Q8NHZ9|Q8TDT6	Missense_Mutation	SNP	ENST00000310357.3	hg19	CCDS5112.1	.	.	.	.	.	.	.	.	.	.	t	0.458	-0.890368	0.02491	.	.	ENSG00000173612	ENST00000310357;ENST00000368549;ENST00000530250	D;D;D	0.87103	-2.21;-2.21;-2.21	4.61	1.78	0.24846	GPCR, family 3, C-terminal (2);	0.314743	0.22687	N	0.056865	T	0.38054	0.1026	N	0.01003	-1.06	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.49716	-0.8910	10	0.16420	T	0.52	.	6.639	0.22899	0.0719:0.1283:0.666:0.1339	.	594;490;665	Q5T6X5-3;Q5T6X5-2;Q5T6X5	.;.;GPC6A_HUMAN	V	665;594;490	ENSP00000309493:M665V;ENSP00000357537:M594V;ENSP00000433465:M490V	ENSP00000309493:M665V	M	-	1	0	GPRC6A	117220786	0.000000	0.05858	0.001000	0.08648	0.170000	0.22686	-0.181000	0.09740	0.166000	0.19597	-0.194000	0.12790	ATG	.	.		0.403	GPRC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041966.2		
RFX6	222546	hgsc.bcm.edu	37	6	117198575	117198575	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr6:117198575A>G	ENST00000332958.2	+	1	153	c.137A>G	c.(136-138)tAc>tGc	p.Y46C		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	46					endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|pancreatic A cell differentiation (GO:0003310)|pancreatic D cell differentiation (GO:0003311)|pancreatic epsilon cell differentiation (GO:0090104)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin secretion (GO:0050796)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell differentiation (GO:0003309)	nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						GAAACAGTGTACCTGGCGGCC	0.672																																					p.Y46C		Atlas-SNP	.											.	RFX6	141	.	0			c.A137G						.						16.0	19.0	18.0					6																	117198575		2196	4297	6493	SO:0001583	missense	222546	exon1			CAGTGTACCTGGC	BC039248	CCDS5113.1	6q22.31	2008-08-04	2008-08-04	2008-08-04	ENSG00000185002	ENSG00000185002			21478	protein-coding gene	gene with protein product		612659	"""regulatory factor X domain containing 1"""	RFXDC1			Standard	NM_173560		Approved	MGC33442, dJ955L16.1	uc003pxm.3	Q8HWS3	OTTHUMG00000015449	ENST00000332958.2:c.137A>G	chr6.hg19:g.117198575A>G	ENSP00000332208:p.Tyr46Cys	147.0	0.0		79.0	4.0	NM_173560	Q5T6B3	Missense_Mutation	SNP	ENST00000332958.2	hg19	CCDS5113.1	.	.	.	.	.	.	.	.	.	.	A	12.02	1.813381	0.32053	.	.	ENSG00000185002	ENST00000332958	T	0.56103	0.48	4.27	1.74	0.24563	.	6.084050	0.00166	N	0.000000	T	0.18593	0.0446	N	0.19112	0.55	0.31081	N	0.711958	P	0.40000	0.698	B	0.33295	0.161	T	0.01165	-1.1431	10	0.51188	T	0.08	-5.8337	8.3661	0.32387	0.6029:0.3971:0.0:0.0	.	46	Q8HWS3	RFX6_HUMAN	C	46	ENSP00000332208:Y46C	ENSP00000332208:Y46C	Y	+	2	0	RFX6	117305268	0.935000	0.31712	0.851000	0.33527	0.029000	0.11900	0.705000	0.25675	0.381000	0.24851	-0.435000	0.05868	TAC	.	.		0.672	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041970.2	NM_173560	
MCM9	254394	hgsc.bcm.edu	37	6	119147383	119147383	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr6:119147383T>C	ENST00000316316.6	-	12	2174	c.1888A>G	c.(1888-1890)Aga>Gga	p.R630G	MCM9_ENST00000505485.1_5'Flank	NM_017696.2	NP_060166.2	Q9NXL9	MCM9_HUMAN	minichromosome maintenance complex component 9	630					cellular response to DNA damage stimulus (GO:0006974)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|female gamete generation (GO:0007292)	MCM8-MCM9 complex (GO:0097362)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_cancers(87;0.122)|all_epithelial(87;0.179)		GBM - Glioblastoma multiforme(226;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.194)		TCACACTGTCTCTGGTACTGC	0.488																																					p.R630G		Atlas-SNP	.											.	MCM9	73	.	0			c.A1888G						.																																			SO:0001583	missense	254394	exon11			ACTGTCTCTGGTA	BC031658	CCDS5121.1, CCDS56447.1	6q22.31	2009-11-16	2007-04-04	2007-04-04	ENSG00000111877	ENSG00000111877			21484	protein-coding gene	gene with protein product		610098	"""minichromosome maintenance deficient domain containing 1"", ""chromosome 6 open reading frame 61"""	MCMDC1, C6orf61		16226853, 15850810, 16495042	Standard	NM_153255		Approved	MGC35304, dJ329L24.3, FLJ20170	uc021zeh.1	Q9NXL9	OTTHUMG00000015468	ENST00000316316.6:c.1888A>G	chr6.hg19:g.119147383T>C	ENSP00000314505:p.Arg630Gly	150.0	0.0		105.0	5.0	NM_017696	B4DR30|B9DI77|Q2KHJ0|Q8N5S5|Q9HCV5	Missense_Mutation	SNP	ENST00000316316.6	hg19	CCDS56447.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.21|15.21	2.766742|2.766742	0.49574|0.49574	.|.	.|.	ENSG00000111877|ENSG00000111877	ENST00000458674|ENST00000316316;ENST00000243218	.|T	.|0.03920	.|3.76	5.42|5.42	3.0|3.0	0.34707|0.34707	.|.	.|66.397200	.|0.00166	.|N	.|0.000000	T|T	0.02304|0.02304	0.0071|0.0071	L|L	0.43152|0.43152	1.355|1.355	0.47511|0.47511	D|D	0.999447|0.999447	.|B	.|0.26258	.|0.145	.|B	.|0.23716	.|0.048	T|T	0.27468|0.27468	-1.0073|-1.0073	5|10	.|0.41790	.|T	.|0.15	.|.	7.6793|7.6793	0.28505|0.28505	0.0:0.0725:0.1417:0.7858|0.0:0.0725:0.1417:0.7858	.|.	.|630	.|Q9NXL9	.|MCM9_HUMAN	G|G	121|630;249	.|ENSP00000314505:R630G	.|ENSP00000243218:R249G	E|R	-|-	2|1	0|2	MCM9|MCM9	119254075|119254075	0.298000|0.298000	0.24417|0.24417	0.998000|0.998000	0.56505|0.56505	0.988000|0.988000	0.76386|0.76386	1.646000|1.646000	0.37249|0.37249	0.852000|0.852000	0.35287|0.35287	0.533000|0.533000	0.62120|0.62120	GAG|AGA	.	.		0.488	MCM9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042005.4	NM_153255	
RNF146	81847	hgsc.bcm.edu	37	6	127608496	127608496	+	Silent	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr6:127608496T>C	ENST00000368314.1	+	3	1162	c.738T>C	c.(736-738)tcT>tcC	p.S246S	RNF146_ENST00000356799.2_3'UTR|ECHDC1_ENST00000488087.1_5'Flank|RNF146_ENST00000309649.3_Silent_p.S245S|RNF146_ENST00000610153.1_Silent_p.S246S|RNF146_ENST00000608991.1_Silent_p.S245S	NM_001242850.1|NM_001242851.1	NP_001229779.1|NP_001229780.1	Q9NTX7	RN146_HUMAN	ring finger protein 146	246					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly-ADP-D-ribose binding (GO:0072572)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(226;0.0407)|all cancers(137;0.2)		TGGAAGACTCTTTTGCTCATT	0.483																																					p.S246S		Atlas-SNP	.											.	RNF146	31	.	0			c.T738C						.						113.0	110.0	111.0					6																	127608496		2203	4300	6503	SO:0001819	synonymous_variant	81847	exon3			AGACTCTTTTGCT	AK027558	CCDS5136.1, CCDS56449.1	6q22.1-q22.33	2008-02-05			ENSG00000118518	ENSG00000118518		"""RING-type (C3HC4) zinc fingers"""	21336	protein-coding gene	gene with protein product		612137					Standard	NM_001242844		Approved	DKFZp434O1427, dactylidin, dJ351K20.1	uc021zes.1	Q9NTX7	OTTHUMG00000015522	ENST00000368314.1:c.738T>C	chr6.hg19:g.127608496T>C		142.0	0.0		91.0	4.0	NM_001242850	E1P572|Q6FIB2|Q7L8H4|Q96K03|Q96T06|Q9NTX6	Silent	SNP	ENST00000368314.1	hg19	CCDS56449.1																																																																																			.	.		0.483	RNF146-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042112.1	NM_030963	
ARHGAP18	93663	hgsc.bcm.edu	37	6	129937450	129937450	+	Splice_Site	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr6:129937450T>C	ENST00000368149.2	-	7	1041		c.e7-2			NM_033515.2	NP_277050.2			Rho GTPase activating protein 18											NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18				OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)		GACCAGAATCTGCAAGAAAAA	0.323																																					.		Atlas-SNP	.											.	ARHGAP18	52	.	0			c.953-2A>G						.						71.0	65.0	67.0					6																	129937450		2203	4300	6503	SO:0001630	splice_region_variant	93663	exon8			AGAATCTGCAAGA	AB053293	CCDS34535.1	6q23.1	2011-06-29			ENSG00000146376	ENSG00000146376		"""Rho GTPase activating proteins"""	21035	protein-coding gene	gene with protein product		613351					Standard	NM_033515		Approved	MacGAP, bA307O14.2	uc003qbr.3	Q8N392	OTTHUMG00000015547	ENST00000368149.2:c.953-2A>G	chr6.hg19:g.129937450T>C		167.0	0.0		86.0	4.0	NM_033515		Splice_Site	SNP	ENST00000368149.2	hg19	CCDS34535.1	.	.	.	.	.	.	.	.	.	.	T	19.56	3.849916	0.71603	.	.	ENSG00000146376	ENST00000368149;ENST00000275189	.	.	.	5.6	5.6	0.85130	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0773	0.80976	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ARHGAP18	129979143	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	7.151000	0.77411	2.254000	0.74563	0.482000	0.46254	.	.	.		0.323	ARHGAP18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042185.2	NM_033515	Intron
TMEM200A	114801	hgsc.bcm.edu	37	6	130762627	130762627	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr6:130762627T>C	ENST00000296978.3	+	3	1931	c.1060T>C	c.(1060-1062)Tcg>Ccg	p.S354P	TMEM200A_ENST00000545622.1_Missense_Mutation_p.S354P|TMEM200A_ENST00000392429.1_Missense_Mutation_p.S354P	NM_001258276.1|NM_001258277.1|NM_001258278.1	NP_001245205.1|NP_001245206.1|NP_001245207.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	354						integral component of membrane (GO:0016021)				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		CATTGGGGAGTCGTTGTCGAG	0.517																																					p.S354P		Atlas-SNP	.											.	TMEM200A	108	.	0			c.T1060C						.						86.0	84.0	85.0					6																	130762627		2203	4300	6503	SO:0001583	missense	114801	exon3			GGGGAGTCGTTGT	AB067500	CCDS5140.1	6q23.1	2009-09-04	2007-12-18	2007-12-18	ENSG00000164484	ENSG00000164484			21075	protein-coding gene	gene with protein product			"""KIAA1913"""	KIAA1913		15722956	Standard	NM_001258276		Approved	TTMC	uc010kfh.4	Q86VY9	OTTHUMG00000015557	ENST00000296978.3:c.1060T>C	chr6.hg19:g.130762627T>C	ENSP00000296978:p.Ser354Pro	191.0	0.0		148.0	6.0	NM_001258277	Q96PX5	Missense_Mutation	SNP	ENST00000296978.3	hg19	CCDS5140.1	.	.	.	.	.	.	.	.	.	.	T	6.999	0.554483	0.13374	.	.	ENSG00000164484	ENST00000296978;ENST00000545622;ENST00000392429	.	.	.	5.93	4.74	0.60224	.	0.129722	0.53938	D	0.000057	T	0.16041	0.0386	N	0.19112	0.55	0.45139	D	0.99815	B	0.06786	0.001	B	0.06405	0.002	T	0.10222	-1.0639	9	0.40728	T	0.16	-8.4043	3.5456	0.07827	0.142:0.0714:0.1315:0.6551	.	354	Q86VY9	T200A_HUMAN	P	354	.	ENSP00000296978:S354P	S	+	1	0	TMEM200A	130804320	1.000000	0.71417	0.968000	0.41197	0.093000	0.18481	2.444000	0.44890	1.029000	0.39812	0.533000	0.62120	TCG	.	.		0.517	TMEM200A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042201.1	NM_052913	
EYA4	2070	hgsc.bcm.edu	37	6	133767825	133767825	+	Silent	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr6:133767825T>C	ENST00000367895.5	+	4	605	c.141T>C	c.(139-141)acT>acC	p.T47T	EYA4_ENST00000431403.2_Silent_p.T47T|EYA4_ENST00000525849.1_Silent_p.T47T|EYA4_ENST00000430974.2_Silent_p.T47T|EYA4_ENST00000355167.3_Silent_p.T47T|EYA4_ENST00000355286.6_Silent_p.T47T|EYA4_ENST00000531901.1_Silent_p.T47T|EYA4_ENST00000452339.2_Silent_p.T47T	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	EYA transcriptional coactivator and phosphatase 4	47					anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA repair (GO:0006281)|inner ear development (GO:0048839)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		GTGGTGATACTCCAGGTAGCT	0.448																																					p.T47T	Melanoma(57;398 1237 3528 4702 7415)	Atlas-SNP	.											EYA4_ENST00000355167,right_lower_lobe,carcinoma,0,2	EYA4	196	.	0			c.T141C						.						119.0	112.0	115.0					6																	133767825		2203	4300	6503	SO:0001819	synonymous_variant	2070	exon4			TGATACTCCAGGT	Y17114	CCDS5165.1, CCDS5166.1, CCDS43506.1, CCDS75521.1, CCDS75523.1	6q23	2014-09-17	2014-06-19		ENSG00000112319	ENSG00000112319		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3522	protein-coding gene	gene with protein product		603550	"""eyes absent (Drosophila) homolog 4"", ""eyes absent homolog 4 (Drosophila)"""	DFNA10, CMD1J		9887327, 11159937	Standard	NM_004100		Approved		uc003qed.4	O95677	OTTHUMG00000015602	ENST00000367895.5:c.141T>C	chr6.hg19:g.133767825T>C		115.0	0.0		93.0	4.0	NM_172105	B7Z7F7|O95464|O95679|Q8IW39|Q9NTR7	Silent	SNP	ENST00000367895.5	hg19	CCDS5165.1																																																																																			.	.		0.448	EYA4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042282.2	NM_004100	
MYB	4602	hgsc.bcm.edu	37	6	135516923	135516923	+	Missense_Mutation	SNP	G	G	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr6:135516923G>A	ENST00000367814.4	+	9	1172	c.986G>A	c.(985-987)aGc>aAc	p.S329N	MYB_ENST00000528774.1_Missense_Mutation_p.S326N|MYB_ENST00000316528.8_Missense_Mutation_p.S329N|MYB_ENST00000525369.1_Intron|MYB_ENST00000442647.2_Missense_Mutation_p.S326N|MYB_ENST00000533624.1_Missense_Mutation_p.S294N|MYB-AS1_ENST00000455534.1_RNA|MYB_ENST00000341911.5_Missense_Mutation_p.S329N|MYB_ENST00000534121.1_Missense_Mutation_p.S329N|MYB_ENST00000531845.1_3'UTR|MYB_ENST00000527615.1_Missense_Mutation_p.S329N|MYB_ENST00000534044.1_Missense_Mutation_p.S329N	NM_001161659.1|NM_005375.2	NP_001155131.1|NP_005366.2	P10242	MYB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog	329	Negative regulatory domain. {ECO:0000250}.				B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|chromatin remodeling (GO:0006338)|embryonic digestive tract development (GO:0048566)|G1/S transition of mitotic cell cycle (GO:0000082)|homeostasis of number of cells (GO:0048872)|in utero embryonic development (GO:0001701)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 methylation (GO:0051574)|positive regulation of T-helper cell differentiation (GO:0045624)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|thymus development (GO:0048538)	nuclear matrix (GO:0016363)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)		GGGTGGCACAGCACCACCATT	0.547			T	NFIB	adenoid cystic carcinoma																																p.S329N		Atlas-SNP	.		Dom	yes		6	6q22-23	4602	v-myb myeloblastosis viral oncogene homolog		E	.	MYB	137	.	0			c.G986A						.						150.0	128.0	135.0					6																	135516923		2203	4300	6503	SO:0001583	missense	4602	exon9			GGCACAGCACCAC		CCDS5174.1, CCDS47481.1, CCDS47482.1, CCDS55058.1, CCDS55059.1, CCDS55060.1, CCDS55061.1, CCDS55062.1	6q22-q23	2013-07-09	2013-07-09		ENSG00000118513	ENSG00000118513			7545	protein-coding gene	gene with protein product		189990				17599807	Standard	NM_001130172		Approved	c-myb	uc003qfh.3	P10242	OTTHUMG00000015629	ENST00000367814.4:c.986G>A	chr6.hg19:g.135516923G>A	ENSP00000356788:p.Ser329Asn	120.0	0.0		77.0	4.0	NM_001161659	E9PI07|E9PLZ5|E9PNA4|E9PNL6|E9PRS2|P78391|P78392|P78525|P78526|Q14023|Q14024|Q708E4|Q708E7|Q9UE83	Missense_Mutation	SNP	ENST00000367814.4	hg19	CCDS5174.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.346859	0.82022	.	.	ENSG00000118513	ENST00000341911;ENST00000442647;ENST00000316528;ENST00000237302;ENST00000367814;ENST00000527615;ENST00000528774;ENST00000534121;ENST00000534044;ENST00000533624	T;T;T;T;T;T;T;T;T	0.33438	2.66;2.17;2.17;2.18;1.41;2.65;2.61;1.84;2.04	5.7	5.7	0.88788	.	0.074599	0.85682	D	0.000000	T	0.36744	0.0978	L	0.27053	0.805	0.58432	D	0.999998	D;D;D;D;D;D;P;D	0.71674	0.993;0.993;0.996;0.99;0.996;0.998;0.885;0.995	P;D;D;P;P;D;P;P	0.79784	0.777;0.968;0.986;0.841;0.882;0.993;0.521;0.876	T	0.15435	-1.0437	10	0.49607	T	0.09	-11.0642	19.8289	0.96627	0.0:0.0:1.0:0.0	.	294;329;326;326;329;329;329;329	E9PI07;E9PLZ5;P10242-2;E9PNL6;E9PNA4;P10242-4;P10242;Q708E1	.;.;.;.;.;.;MYB_HUMAN;.	N	329;326;329;329;329;329;326;329;329;294	ENSP00000339992:S329N;ENSP00000410825:S326N;ENSP00000326328:S329N;ENSP00000356788:S329N;ENSP00000433227:S329N;ENSP00000434723:S326N;ENSP00000432851:S329N;ENSP00000435055:S329N;ENSP00000436605:S294N	ENSP00000237302:S329N	S	+	2	0	MYB	135558616	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.352000	0.90075	2.692000	0.91855	0.467000	0.42956	AGC	.	.		0.547	MYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042347.4		
KIAA1244	57221	hgsc.bcm.edu	37	6	138655204	138655204	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr6:138655204T>C	ENST00000251691.4	+	33	5387	c.5221T>C	c.(5221-5223)Tct>Cct	p.S1741P		NM_020340.4	NP_065073.3			KIAA1244											NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		CAAAGGCCCCTCTCCTGGAGA	0.473																																					p.S1741P		Atlas-SNP	.											.	KIAA1244	236	.	0			c.T5221C						.						55.0	57.0	57.0					6																	138655204		2203	4300	6503	SO:0001583	missense	57221	exon33			GGCCCCTCTCCTG	AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	21213	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 33"""		"""chromosome 6 open reading frame 92"""	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.5221T>C	chr6.hg19:g.138655204T>C	ENSP00000251691:p.Ser1741Pro	115.0	0.0		70.0	4.0	NM_020340		Missense_Mutation	SNP	ENST00000251691.4	hg19	CCDS5189.2	.	.	.	.	.	.	.	.	.	.	T	14.67	2.603435	0.46423	.	.	ENSG00000112379	ENST00000251691	T	0.19806	2.12	5.02	5.02	0.67125	.	0.643026	0.14731	N	0.301742	T	0.08935	0.0221	N	0.19112	0.55	0.38069	D	0.936325	P	0.37864	0.61	B	0.38803	0.282	T	0.12451	-1.0547	10	0.52906	T	0.07	-22.5281	14.7414	0.69458	0.0:0.0:0.0:1.0	.	1741	Q5TH69	BIG3_HUMAN	P	1741	ENSP00000251691:S1741P	ENSP00000251691:S1741P	S	+	1	0	KIAA1244	138696897	0.999000	0.42202	0.998000	0.56505	0.993000	0.82548	4.530000	0.60595	1.896000	0.54893	0.338000	0.21704	TCT	.	.		0.473	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4	NM_020340	
TXLNB	167838	hgsc.bcm.edu	37	6	139564133	139564133	+	Missense_Mutation	SNP	T	T	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr6:139564133T>A	ENST00000358430.3	-	10	1817	c.1585A>T	c.(1585-1587)Agt>Tgt	p.S529C	RP1-225E12.3_ENST00000585874.1_RNA	NM_153235.3	NP_694967.3	Q8N3L3	TXLNB_HUMAN	taxilin beta	529						cytoplasm (GO:0005737)				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		TCCTGAGAACTGCCTATTTCG	0.547																																					p.S529C		Atlas-SNP	.											.	TXLNB	96	.	0			c.A1585T						.						98.0	106.0	103.0					6																	139564133		2203	4300	6503	SO:0001583	missense	167838	exon10			GAGAACTGCCTAT		CCDS34545.1	6q23.3	2008-02-05	2005-07-29	2005-07-29	ENSG00000164440	ENSG00000164440			21617	protein-coding gene	gene with protein product		611438	"""chromosome 6 open reading frame 198"""	C6orf198		15184072	Standard	NM_153235		Approved	DKFZp451A175, MDP77, dJ522B19.2	uc021zfy.1	Q8N3L3	OTTHUMG00000015688	ENST00000358430.3:c.1585A>T	chr6.hg19:g.139564133T>A	ENSP00000351206:p.Ser529Cys	267.0	0.0		174.0	47.0	NM_153235	Q5VTF3|Q76L25|Q86T52|Q8N3S2	Missense_Mutation	SNP	ENST00000358430.3	hg19	CCDS34545.1	.	.	.	.	.	.	.	.	.	.	T	11.08	1.533093	0.27387	.	.	ENSG00000164440	ENST00000358430	T	0.16196	2.36	5.54	-0.719	0.11201	.	1.398390	0.04259	N	0.339998	T	0.03220	0.0094	L	0.27053	0.805	0.09310	N	1	B	0.18013	0.025	B	0.12837	0.008	T	0.40365	-0.9567	9	.	.	.	-0.2153	4.6013	0.12354	0.1467:0.3669:0.0:0.4865	.	529	Q8N3L3	TXLNB_HUMAN	C	529	ENSP00000351206:S529C	.	S	-	1	0	TXLNB	139605826	0.000000	0.05858	0.001000	0.08648	0.032000	0.12392	-0.408000	0.07169	0.082000	0.17018	0.460000	0.39030	AGT	.	.		0.547	TXLNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042458.1	NM_153235	
GPR126	57211	hgsc.bcm.edu	37	6	142764487	142764487	+	Missense_Mutation	SNP	G	G	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr6:142764487G>A	ENST00000230173.6	+	26	4110	c.3634G>A	c.(3634-3636)Gga>Aga	p.G1212R	GPR126_ENST00000367609.3_Missense_Mutation_p.M1196I|GPR126_ENST00000367608.2_Missense_Mutation_p.M1168I|GPR126_ENST00000296932.8_Missense_Mutation_p.G1184R	NM_020455.5	NP_065188	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126	1212					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		GTGCTTCCATGGACAAGTCCT	0.443																																					p.G1212R		Atlas-SNP	.											.	GPR126	192	.	0			c.G3634A						.						193.0	184.0	187.0					6																	142764487		1959	4157	6116	SO:0001583	missense	57211	exon26			TTCCATGGACAAG	AK027843	CCDS47489.1, CCDS47490.1, CCDS47491.1, CCDS55064.1	6q23.1-q24.3	2014-08-08			ENSG00000112414	ENSG00000112414		"""-"", ""GPCR / Class B : Orphans"""	13841	protein-coding gene	gene with protein product		612243				12565841	Standard	NM_001032395		Approved	FLJ14937	uc010khe.3	Q86SQ4	OTTHUMG00000015709	ENST00000230173.6:c.3634G>A	chr6.hg19:g.142764487G>A	ENSP00000230173:p.Gly1212Arg	105.0	0.0		82.0	4.0	NM_020455	Q5TGN7|Q6DHZ4|Q6F3F5|Q6F3F6|Q6F3F7|Q6F3F8|Q6MZU7|Q8IXA4|Q8NC14|Q96JW0	Missense_Mutation	SNP	ENST00000230173.6	hg19	CCDS47490.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.41|10.41	1.343525|1.343525	0.24339|0.24339	.|.	.|.	ENSG00000112414|ENSG00000112414	ENST00000230173;ENST00000296932|ENST00000367608;ENST00000367609	T;T|T;T	0.23950|0.22945	1.88;1.88|1.94;1.93	6.07|6.07	4.29|4.29	0.51040|0.51040	.|.	.|0.402565	.|0.24312	.|N	.|0.039625	T|T	0.03305|0.03305	0.0096|0.0096	N|N	0.08118|0.08118	0|0	0.20307|0.20307	N|N	0.999916|0.999916	B;B|B;B;B	0.23249|0.12013	0.082;0.049|0.002;0.005;0.005	B;B|B;B;B	0.17433|0.11329	0.018;0.012|0.001;0.006;0.006	T|T	0.40308|0.40308	-0.9570|-0.9570	9|10	0.45353|0.21540	T|T	0.12|0.41	.|.	5.0134|5.0134	0.14324|0.14324	0.0709:0.1122:0.5039:0.3129|0.0709:0.1122:0.5039:0.3129	.|.	1184;1212|256;1168;1196	Q86SQ4-2;Q86SQ4|B4DSK4;Q86SQ4-4;Q86SQ4-3	.;GP126_HUMAN|.;.;.	R|I	1212;1184|1168;1196	ENSP00000230173:G1212R;ENSP00000296932:G1184R|ENSP00000356580:M1168I;ENSP00000356581:M1196I	ENSP00000230173:G1212R|ENSP00000356580:M1168I	G|M	+|+	1|3	0|0	GPR126|GPR126	142806180|142806180	1.000000|1.000000	0.71417|0.71417	0.943000|0.943000	0.38184|0.38184	0.819000|0.819000	0.46315|0.46315	2.368000|2.368000	0.44222|0.44222	0.888000|0.888000	0.36160|0.36160	0.655000|0.655000	0.94253|0.94253	GGA|ATG	.	.		0.443	GPR126-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042487.2		
HIVEP2	3097	hgsc.bcm.edu	37	6	143094773	143094773	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr6:143094773T>C	ENST00000367604.1	-	4	1742	c.1103A>G	c.(1102-1104)aAa>aGa	p.K368R	HIVEP2_ENST00000012134.2_Missense_Mutation_p.K368R|HIVEP2_ENST00000367603.2_Missense_Mutation_p.K368R			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	368					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		TAGTGCAAGTTTCTGTTTGAC	0.423																																					p.K368R	Esophageal Squamous(107;843 1510 13293 16805 42198)	Atlas-SNP	.											.	HIVEP2	225	.	0			c.A1103G						.						158.0	154.0	155.0					6																	143094773		1931	4144	6075	SO:0001583	missense	3097	exon5			GCAAGTTTCTGTT	M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"""Zinc fingers, C2H2-type"""	4921	protein-coding gene	gene with protein product	"""c-myc intron binding protein 1"""	143054	"""human immunodeficiency virus type I enhancer-binding protein 2"""			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.1103A>G	chr6.hg19:g.143094773T>C	ENSP00000356576:p.Lys368Arg	201.0	0.0		115.0	6.0	NM_006734	Q02646|Q5THT5|Q9NS05	Missense_Mutation	SNP	ENST00000367604.1	hg19	CCDS43510.1	.	.	.	.	.	.	.	.	.	.	T	10.39	1.336682	0.24253	.	.	ENSG00000010818	ENST00000367604;ENST00000367603;ENST00000012134	T;T;T	0.35236	1.32;1.32;1.32	5.62	4.46	0.54185	.	0.050794	0.85682	D	0.000000	T	0.07052	0.0179	N	0.12182	0.205	0.30826	N	0.737199	B	0.09022	0.002	B	0.06405	0.002	T	0.22800	-1.0206	10	0.19147	T	0.46	-16.1119	7.1394	0.25548	0.0:0.1622:0.0:0.8378	.	368	P31629	ZEP2_HUMAN	R	368	ENSP00000356576:K368R;ENSP00000356575:K368R;ENSP00000012134:K368R	ENSP00000012134:K368R	K	-	2	0	HIVEP2	143136466	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.614000	0.46359	2.276000	0.75962	0.529000	0.55759	AAA	.	.		0.423	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042495.1		
UTRN	7402	hgsc.bcm.edu	37	6	144801076	144801076	+	Silent	SNP	C	C	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr6:144801076C>T	ENST00000367545.3	+	25	3465	c.3465C>T	c.(3463-3465)taC>taT	p.Y1155Y		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1155					aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		ATTTTGAGTACAAGTCACCAG	0.507																																					p.Y1155Y		Atlas-SNP	.											.	UTRN	327	.	0			c.C3465T						.						119.0	118.0	118.0					6																	144801076		2203	4300	6503	SO:0001819	synonymous_variant	7402	exon25			TGAGTACAAGTCA	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.3465C>T	chr6.hg19:g.144801076C>T		129.0	0.0		97.0	4.0	NM_007124	Q5SYY1|Q5SZ57|Q9UJ40	Silent	SNP	ENST00000367545.3	hg19	CCDS34547.1																																																																																			.	.		0.507	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1		
GRM1	2911	hgsc.bcm.edu	37	6	146755356	146755356	+	Silent	SNP	C	C	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr6:146755356C>T	ENST00000282753.1	+	8	3244	c.3009C>T	c.(3007-3009)ttC>ttT	p.F1003F	GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000361719.2_Silent_p.F1003F|GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000507907.1_3'UTR			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	1003					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		CCCCCCTCTTCCTGGCCGAAC	0.682																																					p.F1003F		Atlas-SNP	.											.	GRM1	419	.	0			c.C3009T						.						55.0	65.0	62.0					6																	146755356		2203	4300	6503	SO:0001819	synonymous_variant	2911	exon9			CCTCTTCCTGGCC	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.3009C>T	chr6.hg19:g.146755356C>T		148.0	0.0		83.0	4.0	NM_000838	B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Silent	SNP	ENST00000282753.1	hg19	CCDS5209.1																																																																																			.	.		0.682	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838	
C6orf211	79624	hgsc.bcm.edu	37	6	151789989	151789989	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr6:151789989A>G	ENST00000367294.3	+	5	1329	c.1070A>G	c.(1069-1071)cAg>cGg	p.Q357R	C6orf211_ENST00000545879.1_Missense_Mutation_p.Q238R	NM_024573.1	NP_078849.1	Q9H993	CF211_HUMAN	chromosome 6 open reading frame 211	357										breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(7)	15			BRCA - Breast invasive adenocarcinoma(37;0.183)	OV - Ovarian serous cystadenocarcinoma(155;5.27e-11)		GCTGAACTACAGAAGGCACAT	0.388																																					p.Q357R		Atlas-SNP	.											.	C6orf211	30	.	0			c.A1070G						.						96.0	97.0	97.0					6																	151789989		2203	4300	6503	SO:0001583	missense	79624	exon5			AACTACAGAAGGC	AJ420548	CCDS5233.1, CCDS69224.1	6q25.1	2013-01-07			ENSG00000146476	ENSG00000146476			17872	protein-coding gene	gene with protein product							Standard	NM_001286562		Approved	FLJ12910	uc003qok.1	Q9H993	OTTHUMG00000015838	ENST00000367294.3:c.1070A>G	chr6.hg19:g.151789989A>G	ENSP00000356263:p.Gln357Arg	130.0	0.0		79.0	4.0	NM_024573	Q96FC6|Q9UFY5	Missense_Mutation	SNP	ENST00000367294.3	hg19	CCDS5233.1	.	.	.	.	.	.	.	.	.	.	A	27.2	4.810184	0.90707	.	.	ENSG00000146476	ENST00000367294;ENST00000545879	T;T	0.06849	3.25;3.25	6.16	6.16	0.99307	Domain of unknown function DUF89 (2);	0.000000	0.85682	D	0.000000	T	0.08313	0.0207	M	0.61703	1.905	0.80722	D	1	B	0.29270	0.24	B	0.38921	0.285	T	0.15435	-1.0437	10	0.27785	T	0.31	.	16.8061	0.85666	1.0:0.0:0.0:0.0	.	357	Q9H993	CF211_HUMAN	R	357;238	ENSP00000356263:Q357R;ENSP00000444121:Q238R	ENSP00000356263:Q357R	Q	+	2	0	C6orf211	151831682	1.000000	0.71417	0.936000	0.37596	0.991000	0.79684	9.248000	0.95456	2.367000	0.80283	0.528000	0.53228	CAG	.	.		0.388	C6orf211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042724.1	NM_024573	
SYNE1	23345	hgsc.bcm.edu	37	6	152660387	152660387	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr6:152660387T>C	ENST00000367255.5	-	75	12941	c.12340A>G	c.(12340-12342)Aca>Gca	p.T4114A	SYNE1_ENST00000265368.4_Missense_Mutation_p.T4114A|SYNE1_ENST00000423061.1_Missense_Mutation_p.T4043A|SYNE1_ENST00000448038.1_Missense_Mutation_p.T4043A|SYNE1_ENST00000341594.5_Missense_Mutation_p.T3979A	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4114					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GTTTGCTCTGTTTGTTGAATG	0.373										HNSCC(10;0.0054)																											p.T4114A		Atlas-SNP	.											.	SYNE1	3227	.	0			c.A12340G						.						134.0	127.0	129.0					6																	152660387		2203	4300	6503	SO:0001583	missense	23345	exon75			GCTCTGTTTGTTG	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.12340A>G	chr6.hg19:g.152660387T>C	ENSP00000356224:p.Thr4114Ala	136.0	0.0		83.0	4.0	NM_182961	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	hg19	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	T	13.54	2.269136	0.40095	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.35048	1.33;1.33;1.33;1.33;1.33	5.84	5.84	0.93424	.	0.000000	0.64402	D	0.000004	T	0.24851	0.0603	L	0.60455	1.87	0.80722	D	1	P;P;P;P	0.48230	0.495;0.495;0.495;0.907	B;B;B;P	0.48334	0.122;0.122;0.122;0.574	T	0.21484	-1.0244	10	0.02654	T	1	.	16.2169	0.82237	0.0:0.0:0.0:1.0	.	4114;4114;4114;4043	B7ZBC3;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	A	4114;4043;4114;4043;3979	ENSP00000356224:T4114A;ENSP00000396024:T4043A;ENSP00000265368:T4114A;ENSP00000390975:T4043A;ENSP00000341887:T3979A	ENSP00000265368:T4114A	T	-	1	0	SYNE1	152702080	1.000000	0.71417	1.000000	0.80357	0.714000	0.41099	3.093000	0.50217	2.223000	0.72356	0.533000	0.62120	ACA	.	.		0.373	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	
CNKSR3	154043	hgsc.bcm.edu	37	6	154762454	154762454	+	Missense_Mutation	SNP	C	C	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr6:154762454C>T	ENST00000607772.1	-	4	1023	c.479G>A	c.(478-480)tGc>tAc	p.C160Y	CNKSR3_ENST00000479339.1_Missense_Mutation_p.C80Y	NM_173515.2	NP_775786.2	Q6P9H4	CNKR3_HUMAN	CNKSR family member 3	160	CRIC. {ECO:0000255|PROSITE- ProRule:PRU00621}.				negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)	cytoplasm (GO:0005737)|membrane (GO:0016020)				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	15		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)		CAGGTCCAAGCAAAGCTGGAT	0.383																																					p.C160Y		Atlas-SNP	.											.	CNKSR3	56	.	0			c.G479A						.						122.0	121.0	122.0					6																	154762454		2203	4300	6503	SO:0001583	missense	154043	exon4			TCCAAGCAAAGCT	AK055911	CCDS5246.1	6q25.2	2013-01-10	2005-04-11	2005-04-11	ENSG00000153721	ENSG00000153721		"""Sterile alpha motif (SAM) domain containing"""	23034	protein-coding gene	gene with protein product			"""membrane associated guanylate kinase interacting protein-like 1"""	MAGI1			Standard	NM_173515		Approved	FLJ31349		Q6P9H4	OTTHUMG00000015873	ENST00000607772.1:c.479G>A	chr6.hg19:g.154762454C>T	ENSP00000475915:p.Cys160Tyr	123.0	0.0		87.0	4.0	NM_173515	Q5SGD5|Q96N65	Missense_Mutation	SNP	ENST00000607772.1	hg19	CCDS5246.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.867628	0.91587	.	.	ENSG00000153721	ENST00000367213;ENST00000479339	T;T	0.57436	1.08;0.4	5.91	5.91	0.95273	CRIC domain (1);CRIC domain, Chordata (1);	0.000000	0.85682	D	0.000000	T	0.71719	0.3373	M	0.78456	2.415	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	T	0.73477	-0.3970	10	0.87932	D	0	.	20.2982	0.98569	0.0:1.0:0.0:0.0	.	160	Q6P9H4	CNKR3_HUMAN	Y	160;80	ENSP00000356182:C160Y;ENSP00000418975:C80Y	ENSP00000356182:C160Y	C	-	2	0	CNKSR3	154804146	1.000000	0.71417	0.995000	0.50966	0.990000	0.78478	7.474000	0.81024	2.803000	0.96430	0.655000	0.94253	TGC	.	.		0.383	CNKSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042792.2	NM_173515	
ACAT2	39	hgsc.bcm.edu	37	6	160197213	160197213	+	Silent	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr6:160197213T>C	ENST00000367048.4	+	6	2426	c.666T>C	c.(664-666)ccT>ccC	p.P222P	ACAT2_ENST00000541436.1_Silent_p.P251P|ACAT2_ENST00000472052.1_3'UTR	NM_005891.2	NP_005882.2	Q9BWD1	THIC_HUMAN	acetyl-CoA acetyltransferase 2	222					lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleus (GO:0005634)	acetyl-CoA C-acetyltransferase activity (GO:0003985)			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(1)	9		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.51e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		ATGAGTTTCCTCGCCATGGGA	0.438																																					p.P222P		Atlas-SNP	.											.	ACAT2	32	.	0			c.T666C						.						118.0	112.0	114.0					6																	160197213		2203	4300	6503	SO:0001819	synonymous_variant	39	exon6			GTTTCCTCGCCAT	AF356877	CCDS5268.1	6q25.3	2014-05-19	2010-04-30		ENSG00000120437	ENSG00000120437	2.3.1.9		94	protein-coding gene	gene with protein product	"""acetoacetyl Coenzyme A thiolase"""	100678	"""acetyl-Coenzyme A acetyltransferase 2 (acetoacetyl Coenzyme A thiolase)"", ""acetyl-Coenzyme A acetyltransferase 2"""			2475872	Standard	NM_005891		Approved		uc010kjy.3	Q9BWD1	OTTHUMG00000015935	ENST00000367048.4:c.666T>C	chr6.hg19:g.160197213T>C		160.0	0.0		109.0	7.0	NM_005891	B7Z233|E1P5B1|Q16146|Q5TCL7|Q8TDM4	Silent	SNP	ENST00000367048.4	hg19	CCDS5268.1																																																																																			.	.		0.438	ACAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042912.1	NM_005891	
ACAT2	39	hgsc.bcm.edu	37	6	160197291	160197291	+	Silent	SNP	A	A	G	rs371174941		TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr6:160197291A>G	ENST00000367048.4	+	6	2504	c.744A>G	c.(742-744)ccA>ccG	p.P248P	ACAT2_ENST00000541436.1_Silent_p.P277P|ACAT2_ENST00000472052.1_3'UTR	NM_005891.2	NP_005882.2	Q9BWD1	THIC_HUMAN	acetyl-CoA acetyltransferase 2	248					lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleus (GO:0005634)	acetyl-CoA C-acetyltransferase activity (GO:0003985)			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(1)	9		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.51e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		CAGTCACCCCAGCCAATGCTT	0.393																																					p.P248P		Atlas-SNP	.											.	ACAT2	32	.	0			c.A744G						.						64.0	63.0	63.0					6																	160197291		2203	4300	6503	SO:0001819	synonymous_variant	39	exon6			CACCCCAGCCAAT	AF356877	CCDS5268.1	6q25.3	2014-05-19	2010-04-30		ENSG00000120437	ENSG00000120437	2.3.1.9		94	protein-coding gene	gene with protein product	"""acetoacetyl Coenzyme A thiolase"""	100678	"""acetyl-Coenzyme A acetyltransferase 2 (acetoacetyl Coenzyme A thiolase)"", ""acetyl-Coenzyme A acetyltransferase 2"""			2475872	Standard	NM_005891		Approved		uc010kjy.3	Q9BWD1	OTTHUMG00000015935	ENST00000367048.4:c.744A>G	chr6.hg19:g.160197291A>G		137.0	0.0		98.0	4.0	NM_005891	B7Z233|E1P5B1|Q16146|Q5TCL7|Q8TDM4	Silent	SNP	ENST00000367048.4	hg19	CCDS5268.1																																																																																			.	.		0.393	ACAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042912.1	NM_005891	
PDE10A	10846	hgsc.bcm.edu	37	6	165801824	165801824	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr6:165801824T>C	ENST00000366882.1	-	18	1899	c.1745A>G	c.(1744-1746)gAg>gGg	p.E582G	PDE10A_ENST00000539869.2_Missense_Mutation_p.E592G|PDE10A_ENST00000354448.4_Missense_Mutation_p.E582G			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	582					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|metal ion binding (GO:0046872)			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Caffeine(DB00201)|Dipyridamole(DB00975)|Papaverine(DB01113)|Tofisopam(DB08811)|Triflusal(DB08814)	GTGGTGCTGCTCCATGGTGGA	0.572																																					p.E592G	Esophageal Squamous(22;308 615 5753 12038 40624)	Atlas-SNP	.											.	PDE10A	154	.	0			c.A1775G						.						149.0	122.0	131.0					6																	165801824		2203	4300	6503	SO:0001583	missense	10846	exon17			TGCTGCTCCATGG	AB020593	CCDS47513.1	6q26	2008-03-18			ENSG00000112541	ENSG00000112541	3.1.4.17	"""Phosphodiesterases"""	8772	protein-coding gene	gene with protein product		610652				10373451	Standard	NM_001130690		Approved		uc003quo.3	Q9Y233	OTTHUMG00000015986	ENST00000366882.1:c.1745A>G	chr6.hg19:g.165801824T>C	ENSP00000355847:p.Glu582Gly	119.0	0.0		89.0	5.0	NM_001130690	Q6FHX1|Q9HCP9|Q9NTV4|Q9ULW9|Q9Y5T1	Missense_Mutation	SNP	ENST00000366882.1	hg19		.	.	.	.	.	.	.	.	.	.	T	32	5.183231	0.94885	.	.	ENSG00000112541	ENST00000366882;ENST00000539869;ENST00000343842;ENST00000354448;ENST00000392126	D;D	0.90563	-2.69;-2.69	5.89	5.89	0.94794	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.85682	D	0.000000	D	0.96294	0.8791	M	0.94063	3.49	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.97301	0.9931	10	0.87932	D	0	.	16.3109	0.82869	0.0:0.0:0.0:1.0	.	592;582	Q9ULW9;Q9Y233	.;PDE10_HUMAN	G	582;610;592;582;581	ENSP00000355847:E582G;ENSP00000346435:E582G	ENSP00000341187:E592G	E	-	2	0	PDE10A	165721814	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.409000	0.80053	2.257000	0.74773	0.460000	0.39030	GAG	.	.		0.572	PDE10A-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000043031.1		
T	6862	hgsc.bcm.edu	37	6	166579280	166579280	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr6:166579280T>C	ENST00000296946.2	-	4	988	c.520A>G	c.(520-522)Aga>Gga	p.R174G	T_ENST00000366871.3_Missense_Mutation_p.R174G	NM_003181.3	NP_003172.1	O15178	BRAC_HUMAN	T, brachyury homolog (mouse)	174					anterior/posterior axis specification, embryo (GO:0008595)|BMP signaling pathway (GO:0030509)|bone morphogenesis (GO:0060349)|canonical Wnt signaling pathway (GO:0060070)|determination of heart left/right asymmetry (GO:0061371)|embryonic skeletal system development (GO:0048706)|heart morphogenesis (GO:0003007)|mesoderm development (GO:0007498)|mesoderm migration involved in gastrulation (GO:0007509)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate morphogenesis (GO:0001839)|neural tube closure (GO:0001843)|notochord formation (GO:0014028)|penetration of zona pellucida (GO:0007341)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|signal transduction (GO:0007165)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|somitogenesis (GO:0001756)|transcription from RNA polymerase II promoter (GO:0006366)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		CCCCCAACTCTCACTATGTGG	0.512									Chordoma, Familial Clustering of																												p.R174G		Atlas-SNP	.											.	T	77	.	0			c.A520G						.						325.0	287.0	300.0					6																	166579280		2203	4300	6503	SO:0001583	missense	6862	exon4	Familial Cancer Database		CAACTCTCACTAT	AJ001699	CCDS5290.1, CCDS59045.1	6q27	2011-06-13	2001-11-28		ENSG00000164458	ENSG00000164458		"""T-boxes"""	11515	protein-coding gene	gene with protein product		601397	"""T brachyury (mouse) homolog"""			8963900	Standard	NM_003181		Approved		uc003quu.2	O15178	OTTHUMG00000015991	ENST00000296946.2:c.520A>G	chr6.hg19:g.166579280T>C	ENSP00000296946:p.Arg174Gly	157.0	0.0		99.0	6.0	NM_003181	E7ERD6|Q4KMP4	Missense_Mutation	SNP	ENST00000296946.2	hg19	CCDS5290.1	.	.	.	.	.	.	.	.	.	.	T	12.24	1.879969	0.33162	.	.	ENSG00000164458	ENST00000366876;ENST00000296946;ENST00000366871	T;T;T	0.80824	-1.42;-1.42;-1.42	4.94	0.963	0.19649	p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.88526	0.6460	M	0.93638	3.44	0.80722	D	1	D;P;D	0.67145	0.996;0.86;0.981	D;P;D	0.68039	0.955;0.573;0.939	D	0.90366	0.4377	10	0.87932	D	0	.	13.6508	0.62310	0.0:0.0:0.5534:0.4466	.	174;174;174	E7ERD6;O15178;Q4KMP4	.;BRAC_HUMAN;.	G	174	ENSP00000355841:R174G;ENSP00000296946:R174G;ENSP00000355836:R174G	ENSP00000296946:R174G	R	-	1	2	T	166499270	1.000000	0.71417	0.939000	0.37840	0.103000	0.19146	2.046000	0.41260	-0.070000	0.12908	-0.488000	0.04728	AGA	.	.		0.512	T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043037.2	NM_003181	
RPS6KA2	6196	hgsc.bcm.edu	37	6	166952273	166952273	+	Splice_Site	SNP	C	C	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr6:166952273C>A	ENST00000265678.4	-	2	323		c.e2-1		RPS6KA2_ENST00000481261.2_Splice_Site|RPS6KA2_ENST00000510118.1_Splice_Site|RPS6KA2_ENST00000366863.2_Splice_Site|RPS6KA2_ENST00000503859.1_Splice_Site|RPS6KA2_ENST00000405189.3_Splice_Site	NM_021135.4	NP_066958.2	Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2						axon guidance (GO:0007411)|brain renin-angiotensin system (GO:0002035)|cardiac muscle cell apoptotic process (GO:0010659)|cellular response to carbohydrate stimulus (GO:0071322)|heart contraction (GO:0060047)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of meiosis (GO:0045835)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oocyte maturation (GO:0001556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of gene expression (GO:0010628)|regulation of protein processing (GO:0070613)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ribosomal protein S6 kinase activity (GO:0004711)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		CGCCTTCTTCCTGCAAGAGAG	0.552																																					.		Atlas-SNP	.											RPS6KA2_ENST00000503859,NS,carcinoma,0,2	RPS6KA2	212	.	0			c.100-1G>T						.						111.0	98.0	102.0					6																	166952273		2203	4300	6503	SO:0001630	splice_region_variant	6196	exon3			TTCTTCCTGCAAG	L07598	CCDS5294.1, CCDS34570.1	6q27	2011-04-05	2002-08-29		ENSG00000071242	ENSG00000071242			10431	protein-coding gene	gene with protein product		601685	"""ribosomal protein S6 kinase, 90kD, polypeptide 2"""			8141249	Standard	NM_001006932		Approved	RSK, RSK3, HU-2	uc003qvc.1	Q15349	OTTHUMG00000016007	ENST00000265678.4:c.100-1G>T	chr6.hg19:g.166952273C>A		51.0	0.0		40.0	3.0	NM_021135	B3KTK9|Q15419|Q59GJ3|Q5TI68|Q96J38|Q9UJN5	Splice_Site	SNP	ENST00000265678.4	hg19	CCDS5294.1	.	.	.	.	.	.	.	.	.	.	C	18.72	3.685375	0.68157	.	.	ENSG00000071242	ENST00000265678;ENST00000510118;ENST00000503859;ENST00000507371;ENST00000506565	.	.	.	4.9	4.9	0.64082	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.9986	0.86375	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RPS6KA2	166872263	1.000000	0.71417	0.907000	0.35723	0.751000	0.42716	5.507000	0.66999	2.434000	0.82447	0.655000	0.94253	.	.	.		0.552	RPS6KA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043075.3	NM_021135	Intron
MLLT4	4301	hgsc.bcm.edu	37	6	168307929	168307929	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr6:168307929A>G	ENST00000447894.2	+	13	1729	c.1729A>G	c.(1729-1731)Aga>Gga	p.R577G	MLLT4_ENST00000351017.4_Missense_Mutation_p.R577G|MLLT4_ENST00000392112.1_Missense_Mutation_p.R561G|MLLT4_ENST00000366806.2_Missense_Mutation_p.R577G|MLLT4_ENST00000400822.3_Missense_Mutation_p.R576G|MLLT4_ENST00000392108.3_Missense_Mutation_p.R577G|MLLT4_ENST00000344191.4_Missense_Mutation_p.R577G			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	577					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		GCCGATGATCAGAGTAGAACA	0.483			T	MLL	AL																																p.R577G		Atlas-SNP	.		Dom	yes		6	6q27	4301	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"""		L	MLLT4_ENST00000392108,NS,carcinoma,0,3	MLLT4	351	.	0			c.A1729G						.						132.0	122.0	126.0					6																	168307929		2203	4300	6503	SO:0001583	missense	4301	exon13			ATGATCAGAGTAG	AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"""			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.1729A>G	chr6.hg19:g.168307929A>G	ENSP00000404595:p.Arg577Gly	209.0	0.0		140.0	6.0	NM_001040000	O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Missense_Mutation	SNP	ENST00000447894.2	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.38|17.38	3.375781|3.375781	0.61735|0.61735	.|.	.|.	ENSG00000130396|ENSG00000130396	ENST00000423229|ENST00000344191;ENST00000351017;ENST00000392108;ENST00000366806;ENST00000392112;ENST00000341575;ENST00000400822;ENST00000447894	.|T;T;T;T;T;T;T	.|0.04706	.|3.78;3.67;3.78;3.77;3.57;3.67;3.67	5.14|5.14	-0.115|-0.115	0.13560|0.13560	.|.	.|0.060165	.|0.64402	.|D	.|0.000011	T|T	0.03739|0.03739	0.0106|0.0106	M|M	0.68317|0.68317	2.08|2.08	0.43719|0.43719	D|D	0.99619|0.99619	.|B;P;P;P	.|0.51791	.|0.434;0.818;0.948;0.948	.|B;B;B;P	.|0.47430	.|0.13;0.311;0.442;0.547	T|T	0.37596|0.37596	-0.9699|-0.9699	5|10	.|0.20519	.|T	.|0.43	-5.3428|-5.3428	14.6184|14.6184	0.68565|0.68565	0.3337:0.6663:0.0:0.0|0.3337:0.6663:0.0:0.0	.|.	.|275;576;577;561	.|Q96C95;P55196-5;P55196-6;P55196-2	.|.;.;.;.	R|G	275|577;577;577;577;561;577;576;577	.|ENSP00000341118:R577G;ENSP00000252692:R577G;ENSP00000375956:R577G;ENSP00000355771:R577G;ENSP00000375960:R561G;ENSP00000383623:R576G;ENSP00000404595:R577G	.|ENSP00000345834:R577G	Q|R	+|+	2|1	0|2	MLLT4|MLLT4	168050778|168050778	0.362000|0.362000	0.24980|0.24980	0.002000|0.002000	0.10522|0.10522	0.958000|0.958000	0.62258|0.62258	0.965000|0.965000	0.29319|0.29319	-0.261000|-0.261000	0.09405|0.09405	0.528000|0.528000	0.53228|0.53228	CAG|AGA	.	.		0.483	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000372077.1	NM_005936	
FAM120B	84498	hgsc.bcm.edu	37	6	170657249	170657249	+	Silent	SNP	T	T	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr6:170657249T>A	ENST00000476287.1	+	5	2136	c.2028T>A	c.(2026-2028)ccT>ccA	p.P676P	FAM120B_ENST00000252510.9_Silent_p.P8P|FAM120B_ENST00000537664.1_Silent_p.P699P|FAM120B_ENST00000540480.1_Silent_p.P688P	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	676					cell differentiation (GO:0030154)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		GGGGAACGCCTAGTTTGAAAA	0.398																																					p.P676P		Atlas-SNP	.											.	FAM120B	108	.	0			c.T2028A						.						50.0	54.0	53.0					6																	170657249		2203	4300	6503	SO:0001819	synonymous_variant	84498	exon5			AACGCCTAGTTTG	AB058741	CCDS5314.1, CCDS75555.1	6q27	2011-04-13	2006-07-04	2006-07-04	ENSG00000112584	ENSG00000112584			21109	protein-coding gene	gene with protein product	"""PPARgamma constitutive coactivator 1"", ""constitutive coactivator of PPAR-gamma"""	612266	"""KIAA1838"""	KIAA1838		14585507	Standard	NM_032448		Approved	PGCC1, CCPG	uc003qxp.3	Q96EK7	OTTHUMG00000016080	ENST00000476287.1:c.2028T>A	chr6.hg19:g.170657249T>A		62.0	0.0		46.0	16.0	NM_032448	B4DL34|Q86V68|Q96JI9	Silent	SNP	ENST00000476287.1	hg19	CCDS5314.1																																																																																			.	.		0.398	FAM120B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000043259.2	NM_032448	
INTS1	26173	hgsc.bcm.edu	37	7	1534513	1534513	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr7:1534513A>G	ENST00000404767.3	-	14	1934	c.1849T>C	c.(1849-1851)Ttc>Ctc	p.F617L	INTS1_ENST00000389470.4_Missense_Mutation_p.F745L	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	617					inner cell mass cell proliferation (GO:0001833)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|snRNA processing (GO:0016180)|U2 snRNA 3'-end processing (GO:0034474)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		TGCTCTGTGAACAGCACCTTG	0.642																																					p.F617L		Atlas-SNP	.											.	INTS1	145	.	0			c.T1849C						.						43.0	49.0	47.0					7																	1534513		2094	4186	6280	SO:0001583	missense	26173	exon14			CTGTGAACAGCAC	AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880			24555	protein-coding gene	gene with protein product		611345				16239144	Standard	NM_001080453		Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.1849T>C	chr7.hg19:g.1534513A>G	ENSP00000385722:p.Phe617Leu	116.0	0.0		85.0	4.0	NM_001080453	A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Missense_Mutation	SNP	ENST00000404767.3	hg19	CCDS47526.1	.	.	.	.	.	.	.	.	.	.	A	16.73	3.204898	0.58234	.	.	ENSG00000164880	ENST00000404767;ENST00000389470	T;T	0.54279	2.7;0.58	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	T	0.42404	0.1201	L	0.31207	0.915	0.80722	D	1	B	0.29432	0.244	B	0.33254	0.16	T	0.26985	-1.0087	10	0.21014	T	0.42	.	14.3527	0.66713	1.0:0.0:0.0:0.0	.	617	Q8N201	INT1_HUMAN	L	617;745	ENSP00000385722:F617L;ENSP00000374121:F745L	ENSP00000374121:F745L	F	-	1	0	INTS1	1501039	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.274000	0.95731	1.784000	0.52394	0.533000	0.62120	TTC	.	.		0.642	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323683.1		
HDAC9	9734	hgsc.bcm.edu	37	7	18687567	18687567	+	Silent	SNP	C	C	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr7:18687567C>T	ENST00000432645.2	+	9	1186	c.1186C>T	c.(1186-1188)Ctg>Ttg	p.L396L	HDAC9_ENST00000428307.2_Silent_p.L352L|HDAC9_ENST00000406451.4_Silent_p.L396L|HDAC9_ENST00000401921.1_Silent_p.L355L|HDAC9_ENST00000405010.3_Silent_p.L396L|HDAC9_ENST00000456174.2_Silent_p.L368L|HDAC9_ENST00000417496.2_Silent_p.L394L|HDAC9_ENST00000406072.1_Silent_p.L383L|HDAC9_ENST00000441542.2_Silent_p.L399L|HDAC9_ENST00000524023.1_Silent_p.L319L	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	396					B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|regulation of skeletal muscle fiber development (GO:0048742)|regulation of striated muscle cell differentiation (GO:0051153)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	CCAGGCTCTCCTGCAGCATTT	0.473																																					p.L399L		Atlas-SNP	.											.	HDAC9	560	.	0			c.C1195T						.						35.0	36.0	36.0					7																	18687567		1974	4164	6138	SO:0001819	synonymous_variant	9734	exon9			GCTCTCCTGCAGC	AF124924	CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1	7p21.1	2008-05-15			ENSG00000048052	ENSG00000048052			14065	protein-coding gene	gene with protein product		606543				10523670, 10487760	Standard	NM_178425		Approved	KIAA0744, HDAC, MITR, HD7, HDAC7B	uc003sui.3	Q9UKV0	OTTHUMG00000152487	ENST00000432645.2:c.1186C>T	chr7.hg19:g.18687567C>T		83.0	0.0		57.0	18.0	NM_178425	A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Silent	SNP	ENST00000432645.2	hg19	CCDS47555.1																																																																																			.	.		0.473	HDAC9-023	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376176.1		
CDCA7L	55536	hgsc.bcm.edu	37	7	21946043	21946043	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr7:21946043T>C	ENST00000406877.3	-	6	1064	c.785A>G	c.(784-786)gAg>gGg	p.E262G	CDCA7L_ENST00000465490.1_5'UTR|CDCA7L_ENST00000356195.5_Missense_Mutation_p.E228G|CDCA7L_ENST00000373934.4_Missense_Mutation_p.E216G	NM_018719.4	NP_061189.2	Q96GN5	CDA7L_HUMAN	cell division cycle associated 7-like	262					positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	29						GATCTGTCCCTCCGAGAAGGC	0.542																																					p.E262G		Atlas-SNP	.											.	CDCA7L	56	.	0			c.A785G						.						84.0	95.0	91.0					7																	21946043		2203	4300	6503	SO:0001583	missense	55536	exon6			TGTCCCTCCGAGA		CCDS5374.1, CCDS47558.1, CCDS47559.1	7p15.3	2007-04-27			ENSG00000164649	ENSG00000164649			30777	protein-coding gene	gene with protein product		609685				16829576	Standard	NM_018719		Approved	RAM2, R1, JPO2	uc010kuk.3	Q96GN5	OTTHUMG00000128429	ENST00000406877.3:c.785A>G	chr7.hg19:g.21946043T>C	ENSP00000383986:p.Glu262Gly	78.0	0.0		66.0	4.0	NM_018719	A4D141|A6NF50|B3KTR5|B4DUT3|C9K0Y1|Q6PIL4|Q86YT0|Q8IXN5|Q96C70|Q9H9A2|Q9NPV2	Missense_Mutation	SNP	ENST00000406877.3	hg19	CCDS5374.1	.	.	.	.	.	.	.	.	.	.	T	18.53	3.643896	0.67244	.	.	ENSG00000164649	ENST00000356195;ENST00000406877;ENST00000373934	T;T;T	0.49432	0.8;0.78;0.82	5.82	3.36	0.38483	.	0.245759	0.41712	D	0.000822	T	0.52613	0.1745	L	0.32530	0.975	0.53005	D	0.999966	D;D;D	0.76494	0.998;0.999;0.999	D;D;D	0.70016	0.931;0.922;0.967	T	0.51980	-0.8636	10	0.56958	D	0.05	-2.6127	8.9309	0.35670	0.0:0.0664:0.1256:0.808	.	216;262;261	C9K0Y1;Q96GN5;Q96GN5-2	.;CDA7L_HUMAN;.	G	228;262;216	ENSP00000348523:E228G;ENSP00000383986:E262G;ENSP00000363045:E216G	ENSP00000348523:E228G	E	-	2	0	CDCA7L	21912568	1.000000	0.71417	0.858000	0.33744	0.731000	0.41821	3.394000	0.52551	1.003000	0.39130	0.533000	0.62120	GAG	.	.		0.542	CDCA7L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250218.4	NM_018719	
FAM188B	84182	hgsc.bcm.edu	37	7	30921896	30921896	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr7:30921896A>G	ENST00000265299.6	+	16	2149	c.2072A>G	c.(2071-2073)gAc>gGc	p.D691G	AQP1_ENST00000509504.1_Missense_Mutation_p.D154G|INMT-FAM188B_ENST00000458257.1_3'UTR|AQP1_ENST00000434909.2_Missense_Mutation_p.D37G	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN	family with sequence similarity 188, member B	691										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CTCCTGCGTGACTGGAGGACT	0.612																																					p.D691G		Atlas-SNP	.											.	FAM188B	62	.	0			c.A2072G						.						58.0	62.0	61.0					7																	30921896		1953	4145	6098	SO:0001583	missense	84182	exon16			TGCGTGACTGGAG	AK026027	CCDS43565.1	7p14.3	2010-08-17	2009-07-14	2009-07-14	ENSG00000106125	ENSG00000106125			21916	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 67"""	C7orf67			Standard	NM_032222		Approved	FLJ22374	uc003tbt.3	Q4G0A6	OTTHUMG00000152800	ENST00000265299.6:c.2072A>G	chr7.hg19:g.30921896A>G	ENSP00000265299:p.Asp691Gly	192.0	0.0		142.0	6.0	NM_032222	Q71AZ7|Q9H6D2	Missense_Mutation	SNP	ENST00000265299.6	hg19	CCDS43565.1	.	.	.	.	.	.	.	.	.	.	A	12.49	1.955138	0.34471	.	.	ENSG00000106125;ENSG00000106125;ENSG00000240583;ENSG00000250424	ENST00000265299;ENST00000409881;ENST00000434909;ENST00000509504	T;T;T	0.45668	0.89;0.89;0.89	5.38	5.38	0.77491	.	0.235594	0.43747	D	0.000538	T	0.43478	0.1249	L	0.58101	1.795	0.80722	D	1	B;B;B	0.25667	0.001;0.091;0.131	B;B;B	0.30251	0.007;0.058;0.113	T	0.43798	-0.9369	10	0.87932	D	0	-21.8477	13.3461	0.60573	1.0:0.0:0.0:0.0	.	37;211;691	B4E220;B8ZZX1;Q4G0A6	.;.;F188B_HUMAN	G	691;211;37;154	ENSP00000265299:D691G;ENSP00000395059:D37G;ENSP00000421315:D154G	ENSP00000265299:D691G	D	+	2	0	RP5-877J2.1;FAM188B;AQP1	30888421	1.000000	0.71417	0.956000	0.39512	0.349000	0.29174	4.691000	0.61738	2.052000	0.61016	0.533000	0.62120	GAC	.	.		0.612	FAM188B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327962.1	NM_032222	
AVL9	23080	hgsc.bcm.edu	37	7	32598745	32598745	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr7:32598745A>G	ENST00000318709.4	+	10	1105	c.884A>G	c.(883-885)gAg>gGg	p.E295G	AVL9_ENST00000409301.1_Missense_Mutation_p.E295G|AVL9_ENST00000404479.1_Missense_Mutation_p.E295G	NM_015060.1	NP_055875.1	Q8NBF6	AVL9_HUMAN	AVL9 homolog (S. cerevisiase)	295					cell migration (GO:0016477)	integral component of membrane (GO:0016021)|recycling endosome (GO:0055037)				endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						AAGACTGAGGAGCCTTTGTTC	0.463																																					p.E295G		Atlas-SNP	.											.	AVL9	66	.	0			c.A884G						.						85.0	77.0	79.0					7																	32598745		2203	4300	6503	SO:0001583	missense	23080	exon10			CTGAGGAGCCTTT	D87682	CCDS34613.1	7p14.3	2013-05-01	2008-10-03	2008-10-03	ENSG00000105778	ENSG00000105778			28994	protein-coding gene	gene with protein product		612927	"""KIAA0241"""	KIAA0241		17229886, 22595670	Standard	XM_005249668		Approved		uc003tcv.1	Q8NBF6	OTTHUMG00000152929	ENST00000318709.4:c.884A>G	chr7.hg19:g.32598745A>G	ENSP00000315568:p.Glu295Gly	90.0	0.0		85.0	5.0	NM_015060	Q92573	Missense_Mutation	SNP	ENST00000318709.4	hg19	CCDS34613.1	.	.	.	.	.	.	.	.	.	.	A	1.520	-0.547249	0.04024	.	.	ENSG00000105778	ENST00000318709;ENST00000409301;ENST00000329714;ENST00000404479;ENST00000446718	T;T;T;T	0.47869	0.89;0.89;0.84;0.83	5.31	2.88	0.33553	.	0.581313	0.18634	N	0.135509	T	0.16085	0.0387	N	0.01352	-0.895	0.09310	N	1	B;B;B	0.09022	0.002;0.0;0.001	B;B;B	0.10450	0.005;0.001;0.002	T	0.08932	-1.0698	10	0.45353	T	0.12	-11.9767	1.8924	0.03250	0.4882:0.1248:0.0842:0.3027	.	295;295;295	Q8N6Z3;Q8NBF6-2;Q8NBF6	.;.;AVL9_HUMAN	G	295;295;295;295;226	ENSP00000315568:E295G;ENSP00000387011:E295G;ENSP00000385242:E295G;ENSP00000395134:E226G	ENSP00000315568:E295G	E	+	2	0	AVL9	32565270	0.001000	0.12720	0.010000	0.14722	0.003000	0.03518	1.023000	0.30065	1.004000	0.39156	0.482000	0.46254	GAG	.	.		0.463	AVL9-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328643.1	NM_015060	
EEPD1	80820	hgsc.bcm.edu	37	7	36194099	36194099	+	Missense_Mutation	SNP	G	G	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr7:36194099G>A	ENST00000242108.4	+	2	884	c.166G>A	c.(166-168)Gtg>Atg	p.V56M	EEPD1_ENST00000534978.1_Missense_Mutation_p.V56M	NM_030636.2	NP_085139.2	Q7L9B9	EEPD1_HUMAN	endonuclease/exonuclease/phosphatase family domain containing 1	56	HhH.				DNA repair (GO:0006281)		DNA binding (GO:0003677)			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1)	18						CCTGCCTGGGGTGACGCGTGC	0.577																																					p.V56M		Atlas-SNP	.											.	EEPD1	47	.	0			c.G166A						.						116.0	116.0	116.0					7																	36194099		2203	4300	6503	SO:0001583	missense	80820	exon2			CCTGGGGTGACGC	AK027386	CCDS34619.1	7p14.2	2007-12-07	2007-12-07		ENSG00000122547	ENSG00000122547			22223	protein-coding gene	gene with protein product							Standard	NM_030636		Approved	KIAA1706	uc003tfa.3	Q7L9B9	OTTHUMG00000154904	ENST00000242108.4:c.166G>A	chr7.hg19:g.36194099G>A	ENSP00000242108:p.Val56Met	103.0	0.0		95.0	4.0	NM_030636	Q96K64|Q9C0F7	Missense_Mutation	SNP	ENST00000242108.4	hg19	CCDS34619.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.291100	0.80914	.	.	ENSG00000122547	ENST00000242108;ENST00000534978	T;T	0.32988	1.43;1.43	5.68	5.68	0.88126	RuvA domain 2-like (1);Competence protein ComEA, helix-hairpin-helix domain (1);Helix-hairpin-helix DNA-binding motif, class 1 (1);	0.000000	0.85682	D	0.000000	T	0.57403	0.2051	M	0.69463	2.115	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.58239	-0.7671	10	0.87932	D	0	-28.3346	19.7989	0.96497	0.0:0.0:1.0:0.0	.	56	Q7L9B9	EEPD1_HUMAN	M	56	ENSP00000242108:V56M;ENSP00000442692:V56M	ENSP00000242108:V56M	V	+	1	0	EEPD1	36160624	1.000000	0.71417	1.000000	0.80357	0.668000	0.39293	7.832000	0.86757	2.683000	0.91414	0.561000	0.74099	GTG	.	.		0.577	EEPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337602.1	NM_030636	
AMPH	273	hgsc.bcm.edu	37	7	38457492	38457492	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr7:38457492A>G	ENST00000356264.2	-	17	1546	c.1331T>C	c.(1330-1332)gTc>gCc	p.V444A	AMPH_ENST00000471913.1_Intron|AMPH_ENST00000428293.2_Intron|AMPH_ENST00000325590.5_Intron	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	444					endocytosis (GO:0006897)|learning (GO:0007612)|synaptic transmission (GO:0007268)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|leading edge membrane (GO:0031256)|synaptic vesicle (GO:0008021)	phospholipid binding (GO:0005543)			breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						GGCAGGTGTGACAGCAGCCAG	0.562																																					p.V444A		Atlas-SNP	.											.	AMPH	157	.	0			c.T1331C						.						92.0	76.0	82.0					7																	38457492		2203	4300	6503	SO:0001583	missense	273	exon17			GGTGTGACAGCAG		CCDS5456.1, CCDS47574.1	7p14-p13	2007-06-19	2007-06-19		ENSG00000078053	ENSG00000078053			471	protein-coding gene	gene with protein product		600418	"""amphiphysin (Stiff-Mann syndrome with breast cancer 128kD autoantigen)"", ""amphiphysin (Stiff-Man syndrome with breast cancer 128kDa autoantigen)"""			8245793	Standard	NM_139316		Approved		uc003tgu.3	P49418	OTTHUMG00000023725	ENST00000356264.2:c.1331T>C	chr7.hg19:g.38457492A>G	ENSP00000348602:p.Val444Ala	245.0	0.0		168.0	8.0	NM_001635	A4D1X8|A4D1X9|O43538|Q75MJ8|Q75MK5|Q75MM3|Q8N4G0	Missense_Mutation	SNP	ENST00000356264.2	hg19	CCDS5456.1	.	.	.	.	.	.	.	.	.	.	A	0.013	-1.645723	0.00792	.	.	ENSG00000078053	ENST00000356264	T	0.58210	0.35	4.42	-1.27	0.09347	.	.	.	.	.	T	0.22322	0.0538	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.25187	-1.0139	9	0.05721	T	0.95	0.1344	4.7095	0.12865	0.4084:0.1537:0.4378:0.0	.	444	P49418	AMPH_HUMAN	A	444	ENSP00000348602:V444A	ENSP00000348602:V444A	V	-	2	0	AMPH	38424017	0.039000	0.19947	0.000000	0.03702	0.002000	0.02628	1.090000	0.30902	-0.361000	0.08125	-0.969000	0.02612	GTC	.	.		0.562	AMPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000226953.2	NM_001635	
POU6F2	11281	hgsc.bcm.edu	37	7	39500146	39500146	+	Splice_Site	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr7:39500146A>G	ENST00000403058.1	+	10	1557	c.1403A>G	c.(1402-1404)aAt>aGt	p.N468S	POU6F2_ENST00000559001.1_Splice_Site_p.N413S|POU6F2_ENST00000518318.2_Splice_Site_p.N468S	NM_001166018.1|NM_007252.3	NP_001159490.1|NP_009183.3	P78424	PO6F2_HUMAN	POU class 6 homeobox 2	468					central nervous system development (GO:0007417)|ganglion mother cell fate determination (GO:0007402)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						ATCTCCACAGATCCTCAAACG	0.458																																					p.N468S		Atlas-SNP	.											.	POU6F2	117	.	0			c.A1403G						.						54.0	48.0	50.0					7																	39500146		2203	4300	6503	SO:0001630	splice_region_variant	11281	exon10			CCACAGATCCTCA	U91934	CCDS34620.2, CCDS55103.1	7p14.1	2011-06-20	2007-07-13		ENSG00000106536	ENSG00000106536		"""Homeoboxes / POU class"""	21694	protein-coding gene	gene with protein product	"""Retina-derived POU-domain factor-1"""	609062	"""POU domain, class 6, transcription factor 2"""			8601806	Standard	NM_007252		Approved	RPF-1	uc003thb.2	P78424	OTTHUMG00000150803	ENST00000403058.1:c.1403-1A>G	chr7.hg19:g.39500146A>G		234.0	0.0		161.0	8.0	NM_007252	A4D1W2|C4AMB9|P78425|Q75ME8|Q86UM6|Q9UDS7	Missense_Mutation	SNP	ENST00000403058.1	hg19	CCDS34620.2	.	.	.	.	.	.	.	.	.	.	A	13.33	2.204127	0.38905	.	.	ENSG00000106536	ENST00000403058;ENST00000518318	T;D	0.85556	1.08;-2.0	5.48	5.48	0.80851	.	2.638820	0.01079	N	0.004942	D	0.87892	0.6292	N	0.12182	0.205	0.50313	D	0.999867	D	0.69078	0.997	D	0.70716	0.97	T	0.75133	-0.3425	9	.	.	.	.	15.5731	0.76354	1.0:0.0:0.0:0.0	.	468	P78424	PO6F2_HUMAN	S	468	ENSP00000384004:N468S;ENSP00000430514:N468S	.	N	+	2	0	POU6F2	39466671	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.293000	0.96082	2.080000	0.62538	0.418000	0.28097	AAT	.	.		0.458	POU6F2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320146.3	NM_007252	Missense_Mutation
NPC1L1	29881	hgsc.bcm.edu	37	7	44555532	44555532	+	Silent	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr7:44555532A>G	ENST00000289547.4	-	19	3802	c.3747T>C	c.(3745-3747)ccT>ccC	p.P1249P	NPC1L1_ENST00000546276.1_Silent_p.P1176P|NPC1L1_ENST00000381160.3_Silent_p.P1222P	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	1249					cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intestinal cholesterol absorption (GO:0030299)|lipoprotein metabolic process (GO:0042157)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)	brush border membrane (GO:0031526)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hedgehog receptor activity (GO:0008158)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	CAAGGATGCCAGGCAGGTTGG	0.622																																					p.P1249P		Atlas-SNP	.											.	NPC1L1	141	.	0			c.T3747C						.						51.0	52.0	52.0					7																	44555532		2203	4300	6503	SO:0001819	synonymous_variant	29881	exon19			GATGCCAGGCAGG		CCDS5491.1, CCDS43575.1, CCDS75587.1	7p13	2012-11-15	2012-11-15		ENSG00000015520	ENSG00000015520			7898	protein-coding gene	gene with protein product		608010	"""NPC1 (Niemann-Pick disease, type C1, gene)-like 1"""			10783261	Standard	NM_013389		Approved		uc003tlb.3	Q9UHC9	OTTHUMG00000023691	ENST00000289547.4:c.3747T>C	chr7.hg19:g.44555532A>G		111.0	0.0		75.0	4.0	NM_013389	A4D2J7|B7ZLE6|D3DVK9|Q17RV5|Q6R3Q4|Q9UHC8	Silent	SNP	ENST00000289547.4	hg19	CCDS5491.1																																																																																			.	.		0.622	NPC1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251256.1	NM_013389	
COBL	23242	hgsc.bcm.edu	37	7	51111115	51111115	+	Silent	SNP	C	C	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr7:51111115C>T	ENST00000265136.7	-	8	1536	c.1371G>A	c.(1369-1371)ttG>ttA	p.L457L	COBL_ENST00000395542.2_Silent_p.L539L	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	457					actin filament network formation (GO:0051639)|actin filament polymerization (GO:0030041)|collateral sprouting in absence of injury (GO:0048669)|digestive tract development (GO:0048565)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|liver development (GO:0001889)|neural tube closure (GO:0001843)|notochord development (GO:0030903)|positive regulation of dendrite development (GO:1900006)|somite specification (GO:0001757)	actin filament (GO:0005884)|axon (GO:0030424)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic growth cone (GO:0044294)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)			NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					TCTTCTCCCACAAGGGGCTCT	0.552																																					p.L457L	NSCLC(189;2119 2138 12223 30818 34679)	Atlas-SNP	.											.	COBL	167	.	0			c.G1371A						.						82.0	81.0	82.0					7																	51111115		2203	4300	6503	SO:0001819	synonymous_variant	23242	exon8			CTCCCACAAGGGG	AB014533	CCDS34637.1, CCDS75601.1, CCDS75602.1	7p12.2-p12.1	2012-12-07	2012-12-07		ENSG00000106078	ENSG00000106078			22199	protein-coding gene	gene with protein product		610317	"""cordon-bleu homolog (mouse)"""				Standard	NM_015198		Approved	KIAA0633	uc003tpr.4	O75128	OTTHUMG00000155999	ENST00000265136.7:c.1371G>A	chr7.hg19:g.51111115C>T		167.0	0.0		87.0	4.0	NM_015198	A4D257|A7E2B0|B7ZLW9|B9EGF8|Q2T9J3|Q504Y4|Q86XA7|Q8N304|Q8TCM1	Silent	SNP	ENST00000265136.7	hg19	CCDS34637.1	.	.	.	.	.	.	.	.	.	.	C	8.215	0.801172	0.16397	.	.	ENSG00000106078	ENST00000452534	.	.	.	5.5	-8.1	0.01086	.	.	.	.	.	T	0.18509	0.0444	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.27400	-1.0075	4	.	.	.	.	5.2878	0.15710	0.0942:0.1258:0.4968:0.2831	.	.	.	.	M	433	.	.	V	-	1	0	COBL	51078609	0.000000	0.05858	0.000000	0.03702	0.360000	0.29518	-2.273000	0.01164	-1.229000	0.02564	-0.211000	0.12701	GTG	.	.		0.552	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000342682.1	NM_015198	
FZD9	8326	hgsc.bcm.edu	37	7	72849391	72849391	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr7:72849391G>T	ENST00000344575.3	+	1	1283	c.1054G>T	c.(1054-1056)Gag>Tag	p.E352*		NM_003508.2	NP_003499.1	O00144	FZD9_HUMAN	frizzled class receptor 9	352					B cell differentiation (GO:0030183)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|gonad development (GO:0008406)|learning or memory (GO:0007611)|nervous system development (GO:0007399)|neuroblast proliferation (GO:0007405)|vasculature development (GO:0001944)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	14		Lung NSC(55;0.0659)|all_lung(88;0.152)				CGAGGCCATCGAGGCCCACGG	0.642																																					p.E352X	Pancreas(144;909 1878 36867 38226 39554)	Atlas-SNP	.											.	FZD9	51	.	0			c.G1054T						.						52.0	51.0	52.0					7																	72849391		2203	4300	6503	SO:0001587	stop_gained	8326	exon1			GCCATCGAGGCCC	U82169	CCDS5548.1	7q11.23	2014-01-29	2014-01-29		ENSG00000188763	ENSG00000188763		"""GPCR / Class F : Frizzled receptors"", ""CD molecules"""	4047	protein-coding gene	gene with protein product		601766	"""frizzled (Drosophila) homolog 9"", ""frizzled homolog 9 (Drosophila)"", ""frizzled 9, seven transmembrane spanning receptor"", ""frizzled family receptor 9"""			9147651, 10198163	Standard	NM_003508		Approved	FZD3, CD349	uc003tyb.3	O00144	OTTHUMG00000023051	ENST00000344575.3:c.1054G>T	chr7.hg19:g.72849391G>T	ENSP00000345785:p.Glu352*	126.0	0.0		84.0	4.0	NM_003508		Nonsense_Mutation	SNP	ENST00000344575.3	hg19	CCDS5548.1	.	.	.	.	.	.	.	.	.	.	G	38	7.077418	0.98048	.	.	ENSG00000188763	ENST00000344575	.	.	.	4.3	4.3	0.51218	.	0.127165	0.50627	U	0.000112	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	.	16.0988	0.81152	0.0:0.0:1.0:0.0	.	.	.	.	X	352	.	ENSP00000345785:E352X	E	+	1	0	FZD9	72487327	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.823000	0.99369	2.105000	0.64084	0.563000	0.77884	GAG	.	.		0.642	FZD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252120.1		
WBSCR22	114049	hgsc.bcm.edu	37	7	73108372	73108372	+	Silent	SNP	C	C	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr7:73108372C>A	ENST00000265758.2	+	10	751	c.693C>A	c.(691-693)acC>acA	p.T231T	WBSCR22_ENST00000423166.2_3'UTR|WBSCR22_ENST00000423497.1_Silent_p.T231T	NM_017528.4	NP_059998.2	O43709	WBS22_HUMAN	Williams Beuren syndrome chromosome region 22	231					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|rRNA processing (GO:0006364)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|large_intestine(2)|lung(9)|prostate(1)	13		Lung NSC(55;0.0908)|all_lung(88;0.198)				CTGTGTTCACCAATGAGAGGT	0.542																																					p.T231T		Atlas-SNP	.											.	WBSCR22	27	.	0			c.C693A						.						94.0	93.0	93.0					7																	73108372		2203	4300	6503	SO:0001819	synonymous_variant	114049	exon10			GTTCACCAATGAG	AF420248	CCDS5557.1, CCDS56490.1	7q11.23	2012-06-12			ENSG00000071462	ENSG00000071462			16405	protein-coding gene	gene with protein product	"""metastasis-related methyltransferase 1"""	615733				12073013, 11978965, 21148752	Standard	NM_001202560		Approved	MGC19709, MGC2022, MGC5140, PP3381, WBMT, MERM1	uc003tyt.3	O43709	OTTHUMG00000023306	ENST00000265758.2:c.693C>A	chr7.hg19:g.73108372C>A		88.0	0.0		52.0	4.0	NM_001202560	A8K501|C9K060|Q96P12|Q9BQ58|Q9HBP9	Silent	SNP	ENST00000265758.2	hg19	CCDS5557.1																																																																																			.	.		0.542	WBSCR22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252303.1		
HGF	3082	hgsc.bcm.edu	37	7	81335733	81335733	+	Missense_Mutation	SNP	C	C	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr7:81335733C>T	ENST00000222390.5	-	15	1853	c.1627G>A	c.(1627-1629)Gat>Aat	p.D543N	HGF_ENST00000457544.2_Missense_Mutation_p.D538N	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	543	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				activation of MAPK activity (GO:0000187)|blood coagulation (GO:0007596)|cell chemotaxis (GO:0060326)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epithelial to mesenchymal transition (GO:0001837)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|hyaluronan metabolic process (GO:0030212)|liver development (GO:0001889)|mitotic nuclear division (GO:0007067)|myoblast proliferation (GO:0051450)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of hydrogen peroxide-mediated programmed cell death (GO:1901299)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|organ regeneration (GO:0031100)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell migration (GO:0030335)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	catalytic activity (GO:0003824)|chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|identical protein binding (GO:0042802)			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						GCTTCATAATCTTTCAAGTCT	0.333																																					p.D543N		Atlas-SNP	.											HGF,colon,carcinoma,+2,1	HGF	171	.	0			c.G1627A						.						108.0	115.0	112.0					7																	81335733		2203	4300	6503	SO:0001583	missense	3082	exon15			CATAATCTTTCAA		CCDS5597.1, CCDS47626.1, CCDS47627.1, CCDS47628.1, CCDS47629.1	7q21.1	2009-09-11			ENSG00000019991	ENSG00000019991			4893	protein-coding gene	gene with protein product	"""hepatopoietin A"", ""fibroblast-derived tumor cytotoxic factor"", ""scatter factor"", ""lung fibroblast-derived mitogen"""	142409	"""deafness, autosomal recessive 39"""	DFNB39		1837206, 19576567	Standard	XM_006715956		Approved	SF, F-TCF, HGFB, HPTA	uc003uhl.3	P14210	OTTHUMG00000023804	ENST00000222390.5:c.1627G>A	chr7.hg19:g.81335733C>T	ENSP00000222390:p.Asp543Asn	122.0	0.0		80.0	4.0	NM_000601	A1L3U6|Q02935|Q13494|Q14519|Q3KRB2|Q8TCE2|Q9BYL9|Q9BYM0|Q9UDU6	Missense_Mutation	SNP	ENST00000222390.5	hg19	CCDS5597.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.431347	0.83776	.	.	ENSG00000019991	ENST00000222390;ENST00000457544	D;D	0.89050	-2.46;-2.46	5.07	5.07	0.68467	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.098274	0.64402	D	0.000002	D	0.87233	0.6126	N	0.11255	0.115	0.80722	D	1	D;D	0.71674	0.997;0.998	P;P	0.59221	0.772;0.854	D	0.87673	0.2542	10	0.33940	T	0.23	.	18.8012	0.92018	0.0:1.0:0.0:0.0	.	538;543	P14210-3;P14210	.;HGF_HUMAN	N	543;538	ENSP00000222390:D543N;ENSP00000391238:D538N	ENSP00000222390:D543N	D	-	1	0	HGF	81173669	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.926000	0.70070	2.500000	0.84329	0.585000	0.79938	GAT	.	.		0.333	HGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253315.2	NM_000601	
PCLO	27445	hgsc.bcm.edu	37	7	82390784	82390784	+	Silent	SNP	G	G	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr7:82390784G>T	ENST00000333891.9	-	23	15370	c.15033C>A	c.(15031-15033)atC>atA	p.I5011I		NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ATGCAATCTTGATTTCTCCCA	0.308																																					p.I5011I		Atlas-SNP	.											PCLO_ENST00000333891,NS,carcinoma,0,2	PCLO	1506	.	0			c.C15033A						.						128.0	113.0	118.0					7																	82390784		1808	4072	5880	SO:0001819	synonymous_variant	27445	exon23			AATCTTGATTTCT	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.15033C>A	chr7.hg19:g.82390784G>T		94.0	0.0		73.0	3.0	NM_033026		Silent	SNP	ENST00000333891.9	hg19	CCDS47630.1																																																																																			.	.		0.308	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510	
SEMA3A	10371	hgsc.bcm.edu	37	7	83640613	83640613	+	Splice_Site	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr7:83640613T>C	ENST00000265362.4	-	8	1125	c.811A>G	c.(811-813)Aat>Gat	p.N271D	SEMA3A_ENST00000436949.1_Splice_Site_p.N271D	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	271	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				apoptotic process (GO:0006915)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|dendrite morphogenesis (GO:0048813)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of epithelial cell migration (GO:0010633)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neural crest cell migration involved in sympathetic nervous system development (GO:1903045)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of male gonad development (GO:2000020)|positive regulation of neuron migration (GO:2001224)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of heart rate (GO:0002027)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|sensory system development (GO:0048880)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)	axon (GO:0030424)|dendrite (GO:0030425)|extracellular region (GO:0005576)|membrane (GO:0016020)	chemorepellent activity (GO:0045499)|neuropilin binding (GO:0038191)|receptor activity (GO:0004872)			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						CCAAAGTCATTCTGAAAGAAG	0.378																																					p.N271D		Atlas-SNP	.											.	SEMA3A	121	.	0			c.A811G						.						86.0	80.0	82.0					7																	83640613		2203	4300	6503	SO:0001630	splice_region_variant	10371	exon8			AGTCATTCTGAAA	L26081	CCDS5599.1	7p12.1	2013-01-11			ENSG00000075213	ENSG00000075213		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10723	protein-coding gene	gene with protein product	"""sema III"""	603961		SEMAD		8269517, 7748561	Standard	NM_006080		Approved	SEMA1, SemD, coll-1, Hsema-I	uc003uhz.3	Q14563	OTTHUMG00000023443	ENST00000265362.4:c.811-1A>G	chr7.hg19:g.83640613T>C		90.0	0.0		63.0	4.0	NM_006080		Missense_Mutation	SNP	ENST00000265362.4	hg19	CCDS5599.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.252180	0.80135	.	.	ENSG00000075213	ENST00000265362;ENST00000436949	T;T	0.25579	1.79;1.79	6.08	6.08	0.98989	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.55273	0.1910	M	0.81802	2.56	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.59268	-0.7486	10	0.66056	D	0.02	.	16.6512	0.85203	0.0:0.0:0.0:1.0	.	271	Q14563	SEM3A_HUMAN	D	271	ENSP00000265362:N271D;ENSP00000415260:N271D	ENSP00000265362:N271D	N	-	1	0	SEMA3A	83478549	1.000000	0.71417	1.000000	0.80357	0.445000	0.32107	8.040000	0.89188	2.333000	0.79357	0.482000	0.46254	AAT	.	.		0.378	SEMA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253355.2	NM_006080	Missense_Mutation
KIAA1324L	222223	hgsc.bcm.edu	37	7	86574222	86574222	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr7:86574222T>C	ENST00000450689.2	-	4	832	c.647A>G	c.(646-648)gAg>gGg	p.E216G	KIAA1324L_ENST00000416314.1_Missense_Mutation_p.E49G|KIAA1324L_ENST00000444627.1_Missense_Mutation_p.E216G	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	216						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					TACAAAGAACTCAAAGAAGAT	0.393																																					p.E216G		Atlas-SNP	.											.	KIAA1324L	225	.	0			c.A647G						.						127.0	111.0	115.0					7																	86574222		692	1591	2283	SO:0001583	missense	222223	exon4			AAGAACTCAAAGA	AK055902	CCDS34677.1, CCDS47632.1, CCDS34677.2	7q21.12	2008-09-18			ENSG00000164659	ENSG00000164659			21945	protein-coding gene	gene with protein product	"""EIG121-like"""	614048					Standard	NM_001142749		Approved	FLJ31340, EIG121L	uc011kha.2	A8MWY0	OTTHUMG00000153995	ENST00000450689.2:c.647A>G	chr7.hg19:g.86574222T>C	ENSP00000413445:p.Glu216Gly	246.0	0.0		134.0	6.0	NM_001142749	A4D1C9|B4DJV3|Q17RI6|Q96DP2	Missense_Mutation	SNP	ENST00000450689.2	hg19	CCDS47632.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	27.1|27.1	4.796900|4.796900	0.90453|0.90453	.|.	.|.	ENSG00000164659|ENSG00000164659	ENST00000450689;ENST00000444627;ENST00000416314;ENST00000398276|ENST00000423294	T;T;T;T|.	0.49432|.	0.78;0.78;0.78;1.46|.	5.42|5.42	5.42|5.42	0.78866|0.78866	.|.	0.000000|.	0.36972|.	U|.	0.002317|.	T|.	0.74520|.	0.3727|.	M|M	0.76328|0.76328	2.33|2.33	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.87578|.	0.991;0.998|.	T|.	0.75411|.	-0.3327|.	10|.	0.72032|.	D|.	0.01|.	.|.	14.9345|14.9345	0.70944|0.70944	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	216;49|.	A8MWY0;B4DJV3|.	K132L_HUMAN;.|.	G|W	216;216;49;102|176	ENSP00000413445:E216G;ENSP00000397377:E216G;ENSP00000402390:E49G;ENSP00000381325:E102G|.	ENSP00000381325:E102G|.	E|X	-|-	2|3	0|0	KIAA1324L|KIAA1324L	86412158|86412158	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	7.951000|7.951000	0.87819|0.87819	2.189000|2.189000	0.69895|0.69895	0.533000|0.533000	0.62120|0.62120	GAG|TGA	.	.		0.393	KIAA1324L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333372.3	NM_152748	
HEPACAM2	253012	hgsc.bcm.edu	37	7	92825166	92825166	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr7:92825166A>G	ENST00000394468.2	-	8	1327	c.1250T>C	c.(1249-1251)tTt>tCt	p.F417S	HEPACAM2_ENST00000453812.2_Missense_Mutation_p.F440S|HEPACAM2_ENST00000492616.1_5'UTR|HEPACAM2_ENST00000440868.1_Missense_Mutation_p.F397L|HEPACAM2_ENST00000341723.4_Missense_Mutation_p.F405S	NM_001039372.1	NP_001034461.1	A8MVW5	HECA2_HUMAN	HEPACAM family member 2	417					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|midbody (GO:0030496)|spindle (GO:0005819)				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						AACATCTGGAAAAGCAACAAA	0.388																																					p.F417S		Atlas-SNP	.											.	HEPACAM2	132	.	0			c.T1250C						.						118.0	116.0	116.0					7																	92825166		2203	4300	6503	SO:0001583	missense	253012	exon8			TCTGGAAAAGCAA	AK096002	CCDS5629.1, CCDS43616.1, CCDS75631.1, CCDS75632.1	7q21.3	2013-01-29	2008-07-11		ENSG00000188175	ENSG00000188175		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	27364	protein-coding gene	gene with protein product		614133				12975309	Standard	NM_001288804		Approved	FLJ38683	uc003umm.3	A8MVW5	OTTHUMG00000131732	ENST00000394468.2:c.1250T>C	chr7.hg19:g.92825166A>G	ENSP00000377980:p.Phe417Ser	113.0	0.0		89.0	5.0	NM_001039372	B3KTT4|B4DPJ1|B9EG93|E9PDV5|Q6UXI0	Missense_Mutation	SNP	ENST00000394468.2	hg19	CCDS43616.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.3|24.3	4.515757|4.515757	0.85495|0.85495	.|.	.|.	ENSG00000188175|ENSG00000188175	ENST00000440868|ENST00000394468;ENST00000341723;ENST00000453812	T|T;T;T	0.57107|0.57107	0.42|0.42;0.44;0.47	4.89|4.89	4.89|4.89	0.63831|0.63831	.|.	0.390165|0.390165	0.28983|0.28983	N|N	0.013514|0.013514	T|T	0.41305|0.41305	0.1153|0.1153	N|N	0.24115|0.24115	0.695|0.695	0.33045|0.33045	D|D	0.532039|0.532039	P|P;B;P	0.34522|0.34909	0.455|0.475;0.337;0.467	B|B;B;B	0.28709|0.38500	0.093|0.142;0.091;0.275	T|T	0.53429|0.53429	-0.8440|-0.8440	10|10	0.27082|0.25751	T|T	0.32|0.34	-14.7831|-14.7831	13.5382|13.5382	0.61657|0.61657	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	397|440;417;405	C9JN07|E9PDV5;A8MVW5;A8MVW5-2	.|.;HECA2_HUMAN;.	L|S	397|417;405;440	ENSP00000389592:F397L|ENSP00000377980:F417S;ENSP00000340532:F405S;ENSP00000390204:F440S	ENSP00000389592:F397L|ENSP00000340532:F405S	F|F	-|-	1|2	0|0	HEPACAM2|HEPACAM2	92663102|92663102	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	5.420000|5.420000	0.66441|0.66441	2.174000|2.174000	0.68829|0.68829	0.528000|0.528000	0.53228|0.53228	TTC|TTT	.	.		0.388	HEPACAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254651.1	NM_198151	
ACN9	57001	hgsc.bcm.edu	37	7	96810376	96810376	+	Missense_Mutation	SNP	C	C	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr7:96810376C>A	ENST00000432641.2	+	2	1361	c.227C>A	c.(226-228)aCt>aAt	p.T76N	ACN9_ENST00000360382.4_3'UTR|ACN9_ENST00000479853.1_3'UTR	NM_020186.2	NP_064571.1			ACN9 homolog (S. cerevisiae)											large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(3)	10	all_cancers(62;2.54e-08)|all_epithelial(64;2.24e-08)|Esophageal squamous(72;0.00507)|all_lung(186;0.154)|Lung NSC(181;0.159)					CAAAATTCAACTGGAAAAGCA	0.363																																					p.T76N		Atlas-SNP	.											.	ACN9	19	.	0			c.C227A						.						79.0	79.0	79.0					7																	96810376		2203	4300	6503	SO:0001583	missense	57001	exon2			ATTCAACTGGAAA	BC028409	CCDS5648.1	7q22.1	2006-02-09			ENSG00000196636	ENSG00000196636			21752	protein-coding gene	gene with protein product		615773					Standard	NM_020186		Approved	DC11	uc003uoo.4	Q9NRP4	OTTHUMG00000154064	ENST00000432641.2:c.227C>A	chr7.hg19:g.96810376C>A	ENSP00000414066:p.Thr76Asn	649.0	0.0		386.0	131.0	NM_020186		Missense_Mutation	SNP	ENST00000432641.2	hg19	CCDS5648.1	.	.	.	.	.	.	.	.	.	.	C	6.924	0.540194	0.13250	.	.	ENSG00000196636	ENST00000432641	.	.	.	4.99	3.12	0.35913	.	1.243490	0.05323	N	0.526843	T	0.37652	0.1011	L	0.46741	1.465	0.19775	N	0.999958	B	0.27316	0.175	B	0.28465	0.09	T	0.30149	-0.9988	9	0.17832	T	0.49	-0.0866	8.3655	0.32385	0.1874:0.6515:0.161:0.0	.	76	Q9NRP4	ACN9_HUMAN	N	76	.	ENSP00000414066:T76N	T	+	2	0	ACN9	96648312	0.350000	0.24878	0.668000	0.29813	0.560000	0.35617	1.221000	0.32503	0.555000	0.29079	0.591000	0.81541	ACT	.	.		0.363	ACN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333685.3	NM_020186	
ZSCAN25	221785	hgsc.bcm.edu	37	7	99227239	99227239	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr7:99227239A>G	ENST00000394152.2	+	8	1558	c.1231A>G	c.(1231-1233)Acc>Gcc	p.T411A	ZSCAN25_ENST00000466948.1_Intron|ZSCAN25_ENST00000262941.6_Missense_Mutation_p.T339A|ZSCAN25_ENST00000334715.3_Missense_Mutation_p.T411A	NM_145115.2	NP_660090.2	Q6NSZ9	ZSC25_HUMAN	zinc finger and SCAN domain containing 25	411					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)										GTGCTGGAAAACCTTCAGCCA	0.592																																					p.T411A		Atlas-SNP	.											.	.	.	.	0			c.A1231G						.						58.0	56.0	57.0					7																	99227239		2203	4300	6503	SO:0001583	missense	221785	exon8			TGGAAAACCTTCA	AK057030	CCDS5671.2	7q22.1	2013-01-09	2013-01-09	2013-01-09	ENSG00000197037	ENSG00000197037		"""-"", ""Zinc fingers, C2H2-type"""	21961	protein-coding gene	gene with protein product			"""zinc finger protein 498"""	ZNF498		11179890	Standard	XM_005250194		Approved	FLJ32468	uc003url.1	Q6NSZ9	OTTHUMG00000074055	ENST00000394152.2:c.1231A>G	chr7.hg19:g.99227239A>G	ENSP00000377708:p.Thr411Ala	73.0	0.0		55.0	4.0	NM_145115	A4D290|D6W5T5|Q14C82|Q14C99|Q5EBM9|Q6DJZ0|Q6N032|Q6ZML3	Missense_Mutation	SNP	ENST00000394152.2	hg19	CCDS5671.2	.	.	.	.	.	.	.	.	.	.	A	8.485	0.860753	0.17178	.	.	ENSG00000197037	ENST00000394152;ENST00000334715;ENST00000262941	T;T;T	0.01126	5.3;5.3;5.3	3.93	3.93	0.45458	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.47093	D	0.000256	T	0.00695	0.0023	N	0.05158	-0.105	0.29414	N	0.86104	B;B	0.21905	0.05;0.062	B;B	0.33196	0.099;0.159	T	0.45440	-0.9261	10	0.02654	T	1	-15.2947	6.1048	0.20067	0.8878:0.0:0.1122:0.0	.	339;411	Q6NSZ9-2;Q6NSZ9	.;ZN498_HUMAN	A	411;411;339	ENSP00000377708:T411A;ENSP00000334800:T411A;ENSP00000262941:T339A	ENSP00000262941:T339A	T	+	1	0	ZNF498	99065175	0.000000	0.05858	0.996000	0.52242	0.994000	0.84299	-0.133000	0.10451	2.001000	0.58596	0.459000	0.35465	ACC	.	.		0.592	ZSCAN25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157203.4	NM_145115	
ZSCAN21	7589	hgsc.bcm.edu	37	7	99661625	99661625	+	Silent	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr7:99661625A>G	ENST00000292450.4	+	4	971	c.807A>G	c.(805-807)aaA>aaG	p.K269K	ZSCAN21_ENST00000456748.2_Intron|ZSCAN21_ENST00000543588.1_Intron|ZSCAN21_ENST00000477297.1_Intron	NM_145914.2	NP_666019.1	Q9Y5A6	ZSC21_HUMAN	zinc finger and SCAN domain containing 21	269					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|skin(1)	21	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			TTCCTACTAAACCTACCCCAG	0.448																																					p.K269K		Atlas-SNP	.											.	ZSCAN21	29	.	0			c.A807G						.						83.0	79.0	81.0					7																	99661625		2203	4300	6503	SO:0001819	synonymous_variant	7589	exon4			TACTAAACCTACC	AL136865	CCDS5681.1	7q11.1	2013-01-08	2006-10-06	2006-10-06	ENSG00000166529	ENSG00000166529		"""-"", ""Zinc fingers, C2H2-type"""	13104	protein-coding gene	gene with protein product		601261	"""zinc finger protein 38 (KOX 25)"", ""zinc finger protein 38"""	ZNF38		2288909, 2014798	Standard	NM_145914		Approved	DKFZp434L134, NY-REN-21, Zipro1	uc003uso.3	Q9Y5A6	OTTHUMG00000154583	ENST00000292450.4:c.807A>G	chr7.hg19:g.99661625A>G		146.0	0.0		100.0	4.0	NM_145914	A4D2A6|D6W5T9|Q9H0B5	Silent	SNP	ENST00000292450.4	hg19	CCDS5681.1																																																																																			.	.		0.448	ZSCAN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336166.1	NM_145914	
AGFG2	3268	hgsc.bcm.edu	37	7	100161882	100161882	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr7:100161882A>G	ENST00000300176.4	+	11	1464	c.1342A>G	c.(1342-1344)Agg>Ggg	p.R448G	AGFG2_ENST00000262935.4_3'UTR|AGFG2_ENST00000474713.1_Intron	NM_006076.4	NP_006067.3	O95081	AGFG2_HUMAN	ArfGAP with FG repeats 2	448					regulation of ARF GTPase activity (GO:0032312)	membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GTTGGGGCAGAGGCCACTGAG	0.632											OREG0018204	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R448G		Atlas-SNP	.											.	AGFG2	44	.	0			c.A1342G						.						49.0	42.0	44.0					7																	100161882		2203	4300	6503	SO:0001583	missense	3268	exon11			GGGCAGAGGCCAC	AF015042	CCDS5697.1	7q22.1	2008-09-22	2008-09-22	2008-09-22	ENSG00000106351	ENSG00000106351		"""ADP-ribosylation factor GTPase activating proteins"""	5177	protein-coding gene	gene with protein product		604019	"""HIV-1 Rev binding protein-like"""	HRBL		9799793	Standard	XM_005250306		Approved	RABR	uc003uvf.3	O95081	OTTHUMG00000156029	ENST00000300176.4:c.1342A>G	chr7.hg19:g.100161882A>G	ENSP00000300176:p.Arg448Gly	120.0	0.0	1349	81.0	4.0	NM_006076	O75429|Q96AB9|Q96GL4	Missense_Mutation	SNP	ENST00000300176.4	hg19	CCDS5697.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.092622	0.76756	.	.	ENSG00000106351	ENST00000300176	T	0.23754	1.89	4.39	4.39	0.52855	.	0.171076	0.45361	D	0.000379	T	0.43100	0.1232	L	0.57536	1.79	0.80722	D	1	D	0.63880	0.993	D	0.72338	0.977	T	0.25676	-1.0125	10	0.46703	T	0.11	-38.0044	9.9921	0.41877	1.0:0.0:0.0:0.0	.	448	O95081	AGFG2_HUMAN	G	448	ENSP00000300176:R448G	ENSP00000300176:R448G	R	+	1	2	AGFG2	99999818	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.885000	0.56182	1.865000	0.54081	0.454000	0.30748	AGG	.	.		0.632	AGFG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342769.1	NM_006076	
SERPINE1	5054	hgsc.bcm.edu	37	7	100773929	100773929	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr7:100773929A>G	ENST00000223095.4	+	3	656	c.499A>G	c.(499-501)Aca>Gca	p.T167A	SERPINE1_ENST00000445463.2_Missense_Mutation_p.T152A	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	167					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to lipopolysaccharide (GO:0071222)|chronological cell aging (GO:0001300)|defense response to Gram-negative bacterium (GO:0050829)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|gene expression (GO:0010467)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell migration (GO:0030336)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of plasminogen activation (GO:0010757)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell-matrix adhesion (GO:2000098)|negative regulation of vascular wound healing (GO:0061044)|negative regulation of wound healing (GO:0061045)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of leukotriene production involved in inflammatory response (GO:0035491)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of receptor activity (GO:0010469)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20	Lung NSC(181;0.136)|all_lung(186;0.182)				Alteplase(DB00009)|Anistreplase(DB00029)|Drotrecogin alfa(DB00055)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	GAAGACACACACAAAAGGTGA	0.498																																					p.T167A		Atlas-SNP	.											.	SERPINE1	60	.	0			c.A499G						.						133.0	125.0	128.0					7																	100773929		2203	4300	6503	SO:0001583	missense	5054	exon3			ACACACACAAAAG	M16006	CCDS5711.1	7q22.1	2014-02-18	2005-08-18		ENSG00000106366	ENSG00000106366		"""Serine (or cysteine) peptidase inhibitors"""	8583	protein-coding gene	gene with protein product	"""plasminogen activator inhibitor, type I"""	173360	"""serine (or cysteine) proteinase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1"""	PLANH1, PAI1		3097076, 2891140, 24172014	Standard	NM_000602		Approved	PAI	uc003uxt.4	P05121	OTTHUMG00000157107	ENST00000223095.4:c.499A>G	chr7.hg19:g.100773929A>G	ENSP00000223095:p.Thr167Ala	153.0	0.0		91.0	4.0	NM_000602	B7Z4S0|F8WD53	Missense_Mutation	SNP	ENST00000223095.4	hg19	CCDS5711.1	.	.	.	.	.	.	.	.	.	.	A	25.5	4.647472	0.87958	.	.	ENSG00000106366	ENST00000223095;ENST00000445463	T;T	0.54866	0.55;0.55	5.33	5.33	0.75918	Serpin domain (3);	0.000000	0.85682	D	0.000000	T	0.80555	0.4645	H	0.95850	3.73	0.58432	D	0.999999	D;D	0.76494	0.999;0.999	D;D	0.85130	0.995;0.997	D	0.86464	0.1781	10	0.87932	D	0	.	13.2518	0.60055	1.0:0.0:0.0:0.0	.	152;167	F8WD53;P05121	.;PAI1_HUMAN	A	167;152	ENSP00000223095:T167A;ENSP00000396766:T152A	ENSP00000223095:T167A	T	+	1	0	SERPINE1	100560649	1.000000	0.71417	0.941000	0.38009	0.958000	0.62258	5.539000	0.67199	2.019000	0.59389	0.459000	0.35465	ACA	.	.		0.498	SERPINE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347458.1	NM_000602	
LRWD1	222229	hgsc.bcm.edu	37	7	102110227	102110227	+	Missense_Mutation	SNP	G	G	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr7:102110227G>A	ENST00000292616.5	+	11	1492	c.1340G>A	c.(1339-1341)cGc>cAc	p.R447H	MIR4467_ENST00000578629.1_RNA	NM_152892.1	NP_690852.1	Q9UFC0	LRWD1_HUMAN	leucine-rich repeats and WD repeat domain containing 1	447					chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|DNA replication initiation (GO:0006270)|establishment of protein localization to chromatin (GO:0071169)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nuclear origin of replication recognition complex (GO:0005664)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|telomeric heterochromatin (GO:0031933)	chromatin binding (GO:0003682)|methyl-CpG binding (GO:0008327)|methylated histone binding (GO:0035064)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|stomach(2)	20						ATCCCCCTGCGCCTCTGCCCT	0.701																																					p.R447H		Atlas-SNP	.											.	LRWD1	41	.	0			c.G1340A						.						56.0	53.0	54.0					7																	102110227		2203	4300	6503	SO:0001583	missense	222229	exon11			CCCTGCGCCTCTG	AL133057	CCDS34715.1	7q22.1	2013-01-10			ENSG00000161036	ENSG00000161036		"""WD repeat domain containing"""	21769	protein-coding gene	gene with protein product	"""origin recognition complex associated"", ""centromere protein 33"""	615167				20932478, 20850016, 20180869	Standard	NM_152892		Approved	DKFZp434K1815, ORCA, CENP-33	uc003uzn.3	Q9UFC0	OTTHUMG00000157718	ENST00000292616.5:c.1340G>A	chr7.hg19:g.102110227G>A	ENSP00000292616:p.Arg447His	119.0	0.0		78.0	4.0	NM_152892	A8K4K2|B2R9G2|Q8N0T9|Q8WV43|Q96GJ2	Missense_Mutation	SNP	ENST00000292616.5	hg19	CCDS34715.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.58|11.58	1.682136|1.682136	0.29872|0.29872	.|.	.|.	ENSG00000161036|ENSG00000161036	ENST00000488689;ENST00000468175|ENST00000292616	.|T	.|0.70749	.|-0.51	4.8|4.8	4.8|4.8	0.61643|0.61643	.|WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	.|0.051124	.|0.85682	.|D	.|0.000000	T|T	0.76421|0.76421	0.3985|0.3985	L|L	0.38175|0.38175	1.15|1.15	0.47276|0.47276	D|D	0.999378|0.999378	.|D	.|0.89917	.|1.0	.|D	.|0.85130	.|0.997	T|T	0.70773|0.70773	-0.4781|-0.4781	5|10	.|0.17369	.|T	.|0.5	-32.9076|-32.9076	17.033|17.033	0.86466|0.86466	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|447	.|Q9UFC0	.|LRWD1_HUMAN	T|H	76;33|447	.|ENSP00000292616:R447H	.|ENSP00000292616:R447H	A|R	+|+	1|2	0|0	LRWD1|LRWD1	101897232|101897232	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.107000|0.107000	0.19398|0.19398	5.832000|5.832000	0.69337|0.69337	2.503000|2.503000	0.84419|0.84419	0.561000|0.561000	0.74099|0.74099	GCC|CGC	.	.		0.701	LRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349493.1	NM_152892	
RELN	5649	hgsc.bcm.edu	37	7	103180823	103180823	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr7:103180823A>G	ENST00000428762.1	-	44	6910	c.6751T>C	c.(6751-6753)Tct>Cct	p.S2251P	RELN_ENST00000343529.5_Missense_Mutation_p.S2251P|RELN_ENST00000424685.2_Missense_Mutation_p.S2251P	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2251					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CCGTTGAGAGAATACTGTAGG	0.493																																					p.S2251P	NSCLC(146;835 1944 15585 22231 52158)	Atlas-SNP	.											.	RELN	593	.	0			c.T6751C						.						111.0	108.0	109.0					7																	103180823		2203	4300	6503	SO:0001583	missense	5649	exon44			TGAGAGAATACTG		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.6751T>C	chr7.hg19:g.103180823A>G	ENSP00000392423:p.Ser2251Pro	83.0	0.0		47.0	4.0	NM_173054	A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	hg19	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	A	19.99	3.928203	0.73327	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.65916	-0.18;-0.18;-0.18	5.44	5.44	0.79542	Neuraminidase (2);	0.000000	0.85682	D	0.000000	T	0.80844	0.4701	M	0.82823	2.61	0.58432	D	0.999999	D;D	0.89917	1.0;0.998	D;D	0.97110	1.0;0.994	D	0.84048	0.0368	10	0.87932	D	0	.	15.7924	0.78376	1.0:0.0:0.0:0.0	.	2251;2251	P78509-2;P78509	.;RELN_HUMAN	P	2251	ENSP00000392423:S2251P;ENSP00000345694:S2251P;ENSP00000388446:S2251P	ENSP00000345694:S2251P	S	-	1	0	RELN	102968059	1.000000	0.71417	0.998000	0.56505	0.670000	0.39368	8.678000	0.91211	2.194000	0.70268	0.533000	0.62120	TCT	.	.		0.493	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045	
ORC5	5001	hgsc.bcm.edu	37	7	103808859	103808859	+	Intron	SNP	A	A	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr7:103808859A>T	ENST00000297431.4	-	9	1020				ORC5_ENST00000545943.1_Intron|ORC5_ENST00000447452.2_Silent_p.T313T	NM_002553.3	NP_002544.1	O43913	ORC5_HUMAN	origin recognition complex, subunit 5						DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)	ATP binding (GO:0005524)|DNA replication origin binding (GO:0003688)|nucleotide binding (GO:0000166)			kidney(1)|large_intestine(2)|lung(9)|pancreas(1)|upper_aerodigestive_tract(1)	14						TATTAACTTTAGTATCTTGAT	0.328																																					p.T313T		Atlas-SNP	.											.	ORC5	48	.	0			c.T939A						.						93.0	95.0	94.0					7																	103808859		1327	2309	3636	SO:0001627	intron_variant	5001	exon9			AACTTTAGTATCT		CCDS5734.1, CCDS47681.1	7q22.1	2014-06-13	2010-10-12	2010-10-12	ENSG00000164815	ENSG00000164815			8491	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 117"""	602331	"""origin recognition complex, subunit 5 (yeast homolog)-like"", ""origin recognition complex, subunit 5-like (yeast)"", ""origin recognition complex, subunit 5 homolog (yeast)"""	ORC5L		9417919, 9829972	Standard	NM_002553		Approved	Orc5p, ORC5T, PPP1R117	uc003vcb.3	O43913	OTTHUMG00000157275	ENST00000297431.4:c.877+61T>A	chr7.hg19:g.103808859A>T		102.0	0.0		74.0	4.0	NM_181747	A4D0P8|O60590|O95268	Silent	SNP	ENST00000297431.4	hg19	CCDS5734.1																																																																																			.	.		0.328	ORC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348286.1	NM_002553	
KMT2E	55904	hgsc.bcm.edu	37	7	104681461	104681461	+	Missense_Mutation	SNP	C	C	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr7:104681461C>T	ENST00000311117.3	+	3	607	c.62C>T	c.(61-63)gCa>gTa	p.A21V	KMT2E_ENST00000334877.4_Missense_Mutation_p.A21V|KMT2E_ENST00000257745.4_Missense_Mutation_p.A21V|KMT2E_ENST00000334914.7_5'UTR|KMT2E_ENST00000476671.1_Missense_Mutation_p.A21V	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	21					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|DNA methylation (GO:0006306)|erythrocyte differentiation (GO:0030218)|histone H3-K4 methylation (GO:0051568)|neutrophil activation (GO:0042119)|neutrophil mediated immunity (GO:0002446)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription, DNA-templated (GO:0045893)|retinoic acid receptor signaling pathway (GO:0048384)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MLL5-L complex (GO:0070688)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)										GAAATGGCTGCAGGTTCAGAG	0.378																																					p.A21V		Atlas-SNP	.											.	MLL5	173	.	0			c.C62T						.						106.0	97.0	100.0					7																	104681461		2203	4300	6503	SO:0001583	missense	55904	exon2			TGGCTGCAGGTTC	AF067804	CCDS34723.1	7q22.1	2013-05-09	2013-05-09	2013-05-09	ENSG00000005483	ENSG00000005483		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	18541	protein-coding gene	gene with protein product		608444	"""myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)"""	MLL5		9218106, 7672722	Standard	XM_005250493		Approved	HDCMC04P		Q8IZD2	OTTHUMG00000157403	ENST00000311117.3:c.62C>T	chr7.hg19:g.104681461C>T	ENSP00000312379:p.Ala21Val	112.0	0.0		72.0	4.0	NM_018682	B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Missense_Mutation	SNP	ENST00000311117.3	hg19	CCDS34723.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.565884	0.86439	.	.	ENSG00000005483	ENST00000311117;ENST00000393656;ENST00000334877;ENST00000351043;ENST00000257745;ENST00000478990;ENST00000495267;ENST00000476671;ENST00000474203	D;D;D;D;T;D	0.96745	-3.9;-3.19;-3.9;-3.88;0.84;-4.11	5.5	5.5	0.81552	.	0.059107	0.64402	D	0.000002	D	0.97126	0.9061	L	0.41824	1.3	0.80722	D	1	P;D	0.71674	0.457;0.998	B;D	0.76071	0.223;0.987	D	0.97754	1.0216	10	0.62326	D	0.03	.	19.3941	0.94598	0.0:1.0:0.0:0.0	.	21;21	Q8IZD2;Q8IZD2-3	MLL5_HUMAN;.	V	21	ENSP00000312379:A21V;ENSP00000335599:A21V;ENSP00000257745:A21V;ENSP00000419883:A21V;ENSP00000420415:A21V;ENSP00000417888:A21V	ENSP00000257745:A21V	A	+	2	0	MLL5	104468697	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.575000	0.86900	0.585000	0.79938	GCA	.	.		0.378	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348697.1		
ATXN7L1	222255	hgsc.bcm.edu	37	7	105260739	105260739	+	Silent	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr7:105260739T>C	ENST00000419735.3	-	9	1470	c.1425A>G	c.(1423-1425)ggA>ggG	p.G475G	ATXN7L1_ENST00000388807.4_Silent_p.G33G|ATXN7L1_ENST00000472910.1_5'UTR|ATXN7L1_ENST00000477775.1_Silent_p.G351G	NM_020725.1	NP_065776.1	Q9ULK2	AT7L1_HUMAN	ataxin 7-like 1	475										endometrium(1)|large_intestine(4)|lung(5)	10						AGTACCCTCGTCCCATGAGGC	0.353																																					p.G475G		Atlas-SNP	.											.	ATXN7L1	56	.	0			c.A1425G						.						137.0	103.0	113.0					7																	105260739		692	1591	2283	SO:0001819	synonymous_variant	222255	exon9			CCCTCGTCCCATG	AB033044	CCDS34727.1, CCDS47682.1, CCDS47683.1	7q22.1	2007-11-13			ENSG00000146776	ENSG00000146776			22210	protein-coding gene	gene with protein product			"""ataxin 7-like 4"""	ATXN7L4		15115762	Standard	NM_152749		Approved	KIAA1218, MGC33190	uc003vde.2	Q9ULK2	OTTHUMG00000157521	ENST00000419735.3:c.1425A>G	chr7.hg19:g.105260739T>C		189.0	0.0		86.0	5.0	NM_020725	A4D0Q2|B4DTS1|Q8N2T0	Silent	SNP	ENST00000419735.3	hg19	CCDS47682.1																																																																																			.	.		0.353	ATXN7L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349037.2		
LRRN3	54674	hgsc.bcm.edu	37	7	110764148	110764148	+	Silent	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr7:110764148T>C	ENST00000422987.3	+	2	2151	c.1320T>C	c.(1318-1320)gtT>gtC	p.V440V	IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000447215.1_Intron|LRRN3_ENST00000308478.5_Silent_p.V440V|IMMP2L_ENST00000415362.1_Intron|LRRN3_ENST00000451085.1_Silent_p.V440V	NM_018334.4	NP_060804.3	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	440	Ig-like C2-type.				positive regulation of protein phosphorylation (GO:0001934)	clathrin adaptor complex (GO:0030131)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		GGAGCTATGTTTCCTTTCACT	0.433																																					p.V440V		Atlas-SNP	.											.	LRRN3	132	.	0			c.T1320C						.						125.0	133.0	130.0					7																	110764148		2203	4300	6503	SO:0001819	synonymous_variant	54674	exon2			CTATGTTTCCTTT	AB060967	CCDS5754.1	7q31.1	2013-02-11			ENSG00000173114	ENSG00000173114		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	17200	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 5"""					11549284	Standard	NM_001099660		Approved	NLRR3, FLJ11129, FIGLER5	uc003vfs.4	Q9H3W5	OTTHUMG00000155039	ENST00000422987.3:c.1320T>C	chr7.hg19:g.110764148T>C		82.0	0.0		50.0	4.0	NM_018334	O43377|Q6I9V8|Q8IYQ6	Silent	SNP	ENST00000422987.3	hg19	CCDS5754.1																																																																																			.	.		0.433	LRRN3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338171.2	NM_018334	
AASS	10157	hgsc.bcm.edu	37	7	121721604	121721604	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr7:121721604T>C	ENST00000393376.1	-	19	2325	c.2230A>G	c.(2230-2232)Aac>Gac	p.N744D	AASS_ENST00000473553.1_5'UTR|AASS_ENST00000417368.2_Missense_Mutation_p.N744D|RNU7-154P_ENST00000516194.1_RNA			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	744	Saccharopine dehydrogenase.				cellular nitrogen compound metabolic process (GO:0034641)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|protein tetramerization (GO:0051262)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity (GO:0047131)|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity (GO:0047130)			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54						GCTTCTCTGTTTATAAGACCT	0.373																																					p.N744D		Atlas-SNP	.											.	AASS	123	.	0			c.A2230G						.						100.0	107.0	105.0					7																	121721604		2203	4300	6503	SO:0001583	missense	10157	exon20			CTCTGTTTATAAG	AF229180	CCDS5783.1	7q31.3	2010-12-14			ENSG00000008311	ENSG00000008311			17366	protein-coding gene	gene with protein product		605113				10775527	Standard	NM_005763		Approved	LORSDH, LKRSDH	uc003vkb.3	Q9UDR5	OTTHUMG00000157058	ENST00000393376.1:c.2230A>G	chr7.hg19:g.121721604T>C	ENSP00000377040:p.Asn744Asp	110.0	0.0		67.0	4.0	NM_005763	O95462	Missense_Mutation	SNP	ENST00000393376.1	hg19	CCDS5783.1	.	.	.	.	.	.	.	.	.	.	T	7.573	0.667111	0.14710	.	.	ENSG00000008311	ENST00000393376;ENST00000417368	T;T	0.40225	1.04;1.04	5.72	5.72	0.89469	.	0.125574	0.64402	D	0.000001	T	0.27205	0.0667	N	0.21097	0.63	0.49483	D	0.999798	B	0.06786	0.001	B	0.15052	0.012	T	0.10706	-1.0618	10	0.02654	T	1	-14.7098	14.8262	0.70113	0.0:0.0:0.0:1.0	.	744	Q9UDR5	AASS_HUMAN	D	744	ENSP00000377040:N744D;ENSP00000403768:N744D	ENSP00000377040:N744D	N	-	1	0	AASS	121508840	1.000000	0.71417	0.963000	0.40424	0.534000	0.34807	3.922000	0.56462	2.184000	0.69523	0.528000	0.53228	AAC	.	.		0.373	AASS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347300.1	NM_005763	
KLHDC10	23008	hgsc.bcm.edu	37	7	129761948	129761948	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr7:129761948A>G	ENST00000335420.5	+	5	819	c.685A>G	c.(685-687)Att>Gtt	p.I229V		NM_014997.3	NP_055812.1	Q6PID8	KLD10_HUMAN	kelch domain containing 10	229						cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|liver(2)|lung(10)|prostate(1)	17						AACCGGCTATATTTACAGCAC	0.443																																					p.I229V		Atlas-SNP	.											.	KLHDC10	36	.	0			c.A685G						.						137.0	108.0	118.0					7																	129761948		2203	4300	6503	SO:0001583	missense	23008	exon5			GGCTATATTTACA		CCDS5815.1	7q32.2	2008-08-20			ENSG00000128607	ENSG00000128607			22194	protein-coding gene	gene with protein product	"""scruin like at the midline homolog (Drosophila)"""	615152					Standard	NM_014997		Approved	KIAA0265, slim	uc003vpj.2	Q6PID8	OTTHUMG00000157654	ENST00000335420.5:c.685A>G	chr7.hg19:g.129761948A>G	ENSP00000334140:p.Ile229Val	232.0	0.0		184.0	67.0	NM_014997	Q86Y99|Q92554	Missense_Mutation	SNP	ENST00000335420.5	hg19	CCDS5815.1	.	.	.	.	.	.	.	.	.	.	A	12.14	1.847752	0.32606	.	.	ENSG00000128607	ENST00000335420;ENST00000468226	T;T	0.11063	2.81;2.81	5.47	4.11	0.48088	Galactose oxidase, beta-propeller (1);	0.105918	0.64402	D	0.000006	T	0.08133	0.0203	N	0.25789	0.76	0.51012	D	0.999909	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.12156	0.002;0.001;0.007	T	0.21143	-1.0254	10	0.30078	T	0.28	-11.3778	11.1586	0.48501	0.9152:0.0:0.0848:0.0	.	78;86;229	Q96G43;Q6PID8-2;Q6PID8	.;.;KLD10_HUMAN	V	229;86	ENSP00000334140:I229V;ENSP00000420034:I86V	ENSP00000334140:I229V	I	+	1	0	KLHDC10	129549184	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.421000	0.59848	2.064000	0.61679	0.533000	0.62120	ATT	.	.		0.443	KLHDC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349347.2		
PLXNA4	91584	hgsc.bcm.edu	37	7	131865424	131865424	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr7:131865424T>C	ENST00000359827.3	-	19	4522	c.3560A>G	c.(3559-3561)gAg>gGg	p.E1187G	PLXNA4_ENST00000321063.4_Missense_Mutation_p.E1187G			Q9HCM2	PLXA4_HUMAN	plexin A4	1187	IPT/TIG 4.				anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GCACGGCTTCTCCCCAACCAG	0.597																																					p.E1187G		Atlas-SNP	.											.	PLXNA4	873	.	0			c.A3560G						.						69.0	73.0	72.0					7																	131865424		2115	4244	6359	SO:0001583	missense	91584	exon19			GGCTTCTCCCCAA	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.3560A>G	chr7.hg19:g.131865424T>C	ENSP00000352882:p.Glu1187Gly	132.0	0.0		87.0	5.0	NM_020911	A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	hg19	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	T	15.10	2.733907	0.48939	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.73681	-0.77;-0.77	5.38	5.38	0.77491	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.096704	0.64402	D	0.000001	T	0.66066	0.2752	L	0.41961	1.31	0.58432	D	0.999999	B	0.12630	0.006	B	0.24006	0.05	T	0.60806	-0.7190	10	0.07644	T	0.81	.	15.3883	0.74723	0.0:0.0:0.0:1.0	.	1187	Q9HCM2	PLXA4_HUMAN	G	1187	ENSP00000323194:E1187G;ENSP00000352882:E1187G	ENSP00000323194:E1187G	E	-	2	0	PLXNA4	131515964	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	8.013000	0.88655	2.062000	0.61559	0.459000	0.35465	GAG	.	.		0.597	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775	
EXOC4	60412	hgsc.bcm.edu	37	7	133692446	133692446	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr7:133692446T>C	ENST00000253861.4	+	17	2574	c.2545T>C	c.(2545-2547)Tcc>Ccc	p.S849P	EXOC4_ENST00000539845.1_Missense_Mutation_p.S748P|EXOC4_ENST00000545148.1_Missense_Mutation_p.S459P|EXOC4_ENST00000541309.1_Missense_Mutation_p.S137P	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	849					cellular protein metabolic process (GO:0044267)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)	protein N-terminus binding (GO:0047485)			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				CCACCTGATCTCCTGCATCCT	0.488																																					p.S849P		Atlas-SNP	.											.	EXOC4	118	.	0			c.T2545C						.						63.0	53.0	56.0					7																	133692446		2203	4300	6503	SO:0001583	missense	60412	exon17			CTGATCTCCTGCA	AL831989	CCDS5829.1, CCDS43648.1	7q31	2013-01-22	2005-11-01	2005-11-01	ENSG00000131558	ENSG00000131558			30389	protein-coding gene	gene with protein product		608185	"""SEC8-like 1 (S. cerevisiae)"""	SEC8L1		11214970, 12687004	Standard	XM_005250523		Approved	KIAA1699, MGC27170, SEC8, Sec8p	uc003vrk.3	Q96A65	OTTHUMG00000155259	ENST00000253861.4:c.2545T>C	chr7.hg19:g.133692446T>C	ENSP00000253861:p.Ser849Pro	129.0	0.0		81.0	4.0	NM_021807	E9PED2|Q541U8|Q9C0G4|Q9H9K0|Q9P102	Missense_Mutation	SNP	ENST00000253861.4	hg19	CCDS5829.1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.145485	0.77888	.	.	ENSG00000131558	ENST00000253861;ENST00000546185;ENST00000539845;ENST00000545148;ENST00000541309	.	.	.	5.45	4.28	0.50868	.	0.000000	0.85682	D	0.000000	T	0.62889	0.2465	L	0.55481	1.735	0.80722	D	1	P;D;D	0.67145	0.898;0.987;0.996	B;P;P	0.55713	0.434;0.782;0.731	T	0.59279	-0.7484	9	0.30078	T	0.28	.	11.846	0.52385	0.0:0.0:0.1466:0.8534	.	381;459;849	B7Z689;F5GZT1;Q96A65	.;.;EXOC4_HUMAN	P	849;468;748;459;137	.	ENSP00000253861:S849P	S	+	1	0	EXOC4	133342986	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.227000	0.78070	0.894000	0.36317	-0.438000	0.05819	TCC	.	.		0.488	EXOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339182.1	NM_021807	
DGKI	9162	hgsc.bcm.edu	37	7	137304620	137304620	+	Missense_Mutation	SNP	C	C	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr7:137304620C>T	ENST00000288490.5	-	8	943	c.943G>A	c.(943-945)Gct>Act	p.A315T	DGKI_ENST00000424189.2_Missense_Mutation_p.A315T|DGKI_ENST00000453654.2_Missense_Mutation_p.A15T|DGKI_ENST00000446122.1_Missense_Mutation_p.A315T	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	315					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|positive regulation of Ras protein signal transduction (GO:0046579)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of Rap GTPase activity (GO:0032317)	cytoplasm (GO:0005737)|guanyl-nucleotide exchange factor complex (GO:0032045)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						ATAACAGCAGCATGAGCCCCC	0.483																																					p.A315T		Atlas-SNP	.											.	DGKI	335	.	0			c.G943A						.						125.0	122.0	123.0					7																	137304620		2203	4300	6503	SO:0001583	missense	9162	exon8			CAGCAGCATGAGC	AF061936	CCDS5845.1	7q32.3-q33	2013-01-10			ENSG00000157680	ENSG00000157680		"""Ankyrin repeat domain containing"""	2855	protein-coding gene	gene with protein product		604072				9830018	Standard	NM_004717		Approved	DGK-IOTA	uc003vtt.3	O75912	OTTHUMG00000155697	ENST00000288490.5:c.943G>A	chr7.hg19:g.137304620C>T	ENSP00000288490:p.Ala315Thr	126.0	0.0		80.0	5.0	NM_004717	A4D1Q9|Q9NZ49	Missense_Mutation	SNP	ENST00000288490.5	hg19	CCDS5845.1	.	.	.	.	.	.	.	.	.	.	C	36	5.709426	0.96821	.	.	ENSG00000157680	ENST00000453654;ENST00000540376;ENST00000424189;ENST00000288490;ENST00000446122	T;T;T	0.35973	1.82;1.28;1.47	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.62684	0.2448	M	0.76170	2.325	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.66716	0.945;0.946	T	0.60895	-0.7172	10	0.56958	D	0.05	.	20.6721	0.99693	0.0:1.0:0.0:0.0	.	15;315	E9PFX6;O75912	.;DGKI_HUMAN	T	15;263;315;315;315	ENSP00000392161:A15T;ENSP00000288490:A315T;ENSP00000399131:A315T	ENSP00000288490:A315T	A	-	1	0	DGKI	136955160	1.000000	0.71417	0.975000	0.42487	0.994000	0.84299	7.818000	0.86416	2.894000	0.99253	0.591000	0.81541	GCT	.	.		0.483	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341286.3	NM_004717	
ZC3HAV1	56829	hgsc.bcm.edu	37	7	138749685	138749685	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr7:138749685A>G	ENST00000242351.5	-	8	2249	c.1933T>C	c.(1933-1935)Tgt>Cgt	p.C645R	ZC3HAV1_ENST00000464606.1_Missense_Mutation_p.C767R|ZC3HAV1_ENST00000471652.1_Missense_Mutation_p.C645R	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	645	WWE. {ECO:0000255|PROSITE- ProRule:PRU00248}.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral genome replication (GO:0045071)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of mRNA catabolic process (GO:0061014)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						CCCCTCGGACAGGATTGATAG	0.438																																					p.C645R		Atlas-SNP	.											.	ZC3HAV1	75	.	0			c.T1933C						.						125.0	118.0	120.0					7																	138749685		2203	4300	6503	SO:0001583	missense	56829	exon8			TCGGACAGGATTG	BX571742	CCDS5851.1, CCDS55171.1	7q34	2012-07-05			ENSG00000105939	ENSG00000105939		"""Zinc fingers, CCCH-type domain containing"", ""Poly (ADP-ribose) polymerases"""	23721	protein-coding gene	gene with protein product	"""zinc finger antiviral protein"", "" CCCH-type zinc finger antiviral protein"""	607312				12215647, 12851707	Standard	NM_024625		Approved	ZAP, FLB6421, FLJ13288, MGC48898, ZC3HDC2, ZC3H2, PARP13	uc003vun.3	Q7Z2W4	OTTHUMG00000157471	ENST00000242351.5:c.1933T>C	chr7.hg19:g.138749685A>G	ENSP00000242351:p.Cys645Arg	154.0	0.0		93.0	4.0	NM_024625	A4D1R2|A4D1S4|Q8IW57|Q8TAJ3|Q96N79|Q9H8R9|Q9P0Y7	Missense_Mutation	SNP	ENST00000242351.5	hg19	CCDS5851.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	7.653|7.653	0.683244|0.683244	0.14907|0.14907	.|.	.|.	ENSG00000105939|ENSG00000105939	ENST00000242351;ENST00000464606;ENST00000471652;ENST00000540247|ENST00000460845	T;T;T|.	0.27890|.	1.64;1.64;1.64|.	4.32|4.32	3.13|3.13	0.36017|0.36017	WWE domain (1);|.	1.252960|.	0.05459|.	N|.	0.550944|.	T|T	0.38983|0.38983	0.1061|0.1061	L|L	0.50919|0.50919	1.6|1.6	0.09310|0.09310	N|N	1|1	B;B|.	0.32693|.	0.069;0.38|.	B;B|.	0.30251|.	0.113;0.102|.	T|T	0.27088|0.27088	-1.0084|-1.0084	10|5	0.36615|.	T|.	0.2|.	.|.	5.1171|5.1171	0.14840|0.14840	0.6275:0.1899:0.0:0.1826|0.6275:0.1899:0.0:0.1826	.|.	645;645|.	Q7Z2W4-2;Q7Z2W4|.	.;ZCCHV_HUMAN|.	R|P	645;767;645;405|209	ENSP00000242351:C645R;ENSP00000418385:C767R;ENSP00000419855:C645R|.	ENSP00000242351:C645R|.	C|L	-|-	1|2	0|0	ZC3HAV1|ZC3HAV1	138400225|138400225	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.001000|0.001000	0.01503|0.01503	-0.054000|-0.054000	0.11826|0.11826	0.779000|0.779000	0.33543|0.33543	0.524000|0.524000	0.50904|0.50904	TGT|CTG	.	.		0.438	ZC3HAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348915.1	NM_020119	
TPK1	27010	hgsc.bcm.edu	37	7	144288520	144288520	+	Missense_Mutation	SNP	T	T	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr7:144288520T>A	ENST00000360057.3	-	7	599	c.497A>T	c.(496-498)cAa>cTa	p.Q166L	TPK1_ENST00000549981.1_Missense_Mutation_p.Q49L|TPK1_ENST00000378099.3_Intron|TPK1_ENST00000547966.1_5'UTR|TPK1_ENST00000538212.2_Intron	NM_022445.3	NP_071890.2	Q9H3S4	TPK1_HUMAN	thiamin pyrophosphokinase 1	166					small molecule metabolic process (GO:0044281)|thiamine diphosphate biosynthetic process (GO:0009229)|thiamine metabolic process (GO:0006772)|thiamine-containing compound metabolic process (GO:0042723)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|thiamine binding (GO:0030975)|thiamine diphosphokinase activity (GO:0004788)			large_intestine(3)|lung(12)|ovary(2)|urinary_tract(2)	19					Thiamine(DB00152)	ACTCACTGGTTGGAGCAGGTA	0.428																																					p.Q166L	Ovarian(45;88 1034 2073 5829 28455)	Atlas-SNP	.											.	TPK1	41	.	0			c.A497T						.						138.0	139.0	139.0					7																	144288520		2203	4300	6503	SO:0001583	missense	27010	exon7			ACTGGTTGGAGCA	AB028138	CCDS5888.1, CCDS55178.1	7q34-q35	2008-07-18			ENSG00000196511	ENSG00000196511			17358	protein-coding gene	gene with protein product	"""placental protein 20"", ""thiamine pyrophosphokinase 1"", ""thiamine kinase"", ""thiamine diphosphokinase"""	606370				11342111	Standard	NM_022445		Approved	HTPK1, PP20	uc003weq.3	Q9H3S4	OTTHUMG00000152774	ENST00000360057.3:c.497A>T	chr7.hg19:g.144288520T>A	ENSP00000353165:p.Gln166Leu	134.0	0.0		83.0	4.0	NM_022445	A8K0T7|D3DWG0|I6L9B8|Q6NUR5|Q9H602	Missense_Mutation	SNP	ENST00000360057.3	hg19	CCDS5888.1	.	.	.	.	.	.	.	.	.	.	T	13.93	2.385254	0.42308	.	.	ENSG00000196511	ENST00000360057;ENST00000549981;ENST00000552881	T;D	0.83075	-1.04;-1.68	5.78	5.78	0.91487	Thiamin pyrophosphokinase, vitamin B1-binding domain (2);	0.110308	0.64402	D	0.000006	T	0.79161	0.4399	M	0.64997	1.995	0.46849	D	0.999227	P	0.40332	0.713	B	0.33568	0.166	T	0.79652	-0.1714	10	0.39692	T	0.17	-13.6891	14.0659	0.64828	0.0:0.0:0.0:1.0	.	166	Q9H3S4	TPK1_HUMAN	L	166;49;166	ENSP00000353165:Q166L;ENSP00000448655:Q166L	ENSP00000353165:Q166L	Q	-	2	0	TPK1	143919453	0.997000	0.39634	0.901000	0.35422	0.512000	0.34134	2.723000	0.47277	2.220000	0.72140	0.533000	0.62120	CAA	.	.		0.428	TPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327777.1	NM_022445	
SLC4A2	6522	hgsc.bcm.edu	37	7	150761997	150761997	+	Silent	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr7:150761997T>C	ENST00000485713.1	+	5	1562	c.522T>C	c.(520-522)ccT>ccC	p.P174P	SLC4A2_ENST00000461735.1_Silent_p.P160P|SLC4A2_ENST00000310317.5_Silent_p.P92P|SLC4A2_ENST00000392826.2_Silent_p.P165P|SLC4A2_ENST00000413384.2_Silent_p.P174P	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	174	Pro-rich.				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CATCTTCCCCTGCACCACTGC	0.607																																					p.P174P		Atlas-SNP	.											.	SLC4A2	98	.	0			c.T522C						.						70.0	71.0	71.0					7																	150761997		2203	4300	6503	SO:0001819	synonymous_variant	6522	exon5			TTCCCCTGCACCA		CCDS5917.1, CCDS56520.1, CCDS56521.1	7q36.1	2013-07-19	2013-07-19		ENSG00000164889	ENSG00000164889		"""Solute carriers"""	11028	protein-coding gene	gene with protein product	"""anion exchanger 2 type a"", ""anion exchanger 2 type b1"", ""anion exchanger 2 type b2"""	109280	"""erythrocyte membrane protein band 3-like 1"", ""solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1)"""	EPB3L1, AE2		8434259	Standard	NM_003040		Approved	HKB3, BND3L, NBND3	uc003wit.4	P04920	OTTHUMG00000158443	ENST00000485713.1:c.522T>C	chr7.hg19:g.150761997T>C		104.0	0.0		75.0	4.0	NM_003040	B2R6T0|B4DIT0|D3DX05|F8W682|Q45EY5|Q969L3	Silent	SNP	ENST00000485713.1	hg19	CCDS5917.1																																																																																			.	.		0.607	SLC4A2-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351039.1	NM_003040	
EN2	2020	hgsc.bcm.edu	37	7	155255188	155255188	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr7:155255188A>G	ENST00000297375.4	+	2	1057	c.808A>G	c.(808-810)Acg>Gcg	p.T270A		NM_001427.3	NP_001418.2	P19622	HME2_HUMAN	engrailed homeobox 2	270					hindbrain development (GO:0030902)|midbrain development (GO:0030901)|multicellular organismal development (GO:0007275)|neuron development (GO:0048666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	membrane (GO:0016020)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|large_intestine(1)|lung(2)	4	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CAGGTACCTGACGGAGCAGCG	0.602																																					p.T270A		Atlas-SNP	.											.	EN2	14	.	0			c.A808G						.						71.0	72.0	72.0					7																	155255188		2203	4300	6503	SO:0001583	missense	2020	exon2			TACCTGACGGAGC		CCDS5940.1	7q36.2	2011-06-20	2007-02-15		ENSG00000164778	ENSG00000164778		"""Homeoboxes / ANTP class : NKL subclass"""	3343	protein-coding gene	gene with protein product		131310					Standard	NM_001427		Approved		uc003wmb.3	P19622	OTTHUMG00000151354	ENST00000297375.4:c.808A>G	chr7.hg19:g.155255188A>G	ENSP00000297375:p.Thr270Ala	138.0	0.0		73.0	4.0	NM_001427	A4D252|Q549U3|Q9UD58	Missense_Mutation	SNP	ENST00000297375.4	hg19	CCDS5940.1	.	.	.	.	.	.	.	.	.	.	A	22.4	4.281916	0.80692	.	.	ENSG00000164778	ENST00000297375	D	0.96041	-3.89	5.31	4.14	0.48551	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.95316	0.8480	M	0.69823	2.125	0.80722	D	1	P	0.37207	0.587	B	0.44224	0.444	D	0.94538	0.7742	10	0.87932	D	0	-25.0126	12.4114	0.55469	0.8593:0.1407:0.0:0.0	.	270	P19622	HME2_HUMAN	A	270	ENSP00000297375:T270A	ENSP00000297375:T270A	T	+	1	0	EN2	154947949	1.000000	0.71417	0.989000	0.46669	0.972000	0.66771	7.125000	0.77193	0.947000	0.37659	-0.313000	0.08912	ACG	.	.		0.602	EN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322337.1	NM_001427	
CSMD1	64478	hgsc.bcm.edu	37	8	2824171	2824171	+	Silent	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr8:2824171T>C	ENST00000520002.1	-	59	9579	c.9024A>G	c.(9022-9024)gaA>gaG	p.E3008E	CSMD1_ENST00000400186.3_Intron|CSMD1_ENST00000602723.1_Intron|CSMD1_ENST00000537824.1_Silent_p.E3007E|CSMD1_ENST00000542608.1_Intron|CSMD1_ENST00000602557.1_Silent_p.E3008E			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3008	Sushi 23. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TCTTGTAGCCTTCCCAGCAGG	0.557																																					p.E3007E		Atlas-SNP	.											.	CSMD1	1469	.	0			c.A9021G						.						72.0	76.0	75.0					8																	2824171		2066	4220	6286	SO:0001819	synonymous_variant	64478	exon58			GTAGCCTTCCCAG			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.9024A>G	chr8.hg19:g.2824171T>C		138.0	0.0		63.0	4.0	NM_033225	Q0H0J5|Q96QU9|Q96RM4	Silent	SNP	ENST00000520002.1	hg19		.	.	.	.	.	.	.	.	.	.	T	5.937	0.356958	0.11239	.	.	ENSG00000183117	ENST00000335551	.	.	.	5.46	-8.95	0.00765	.	.	.	.	.	T	0.36690	0.0976	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42015	-0.9476	4	.	.	.	.	3.7687	0.08633	0.0871:0.3871:0.1864:0.3395	.	.	.	.	G	2425	.	.	R	-	1	2	CSMD1	2811578	0.002000	0.14202	0.486000	0.27416	0.649000	0.38597	-1.551000	0.02178	-2.165000	0.00781	-0.242000	0.12053	AGG	.	.		0.557	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225	
CLDN23	137075	hgsc.bcm.edu	37	8	8560187	8560187	+	Silent	SNP	G	G	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr8:8560187G>T	ENST00000519106.1	+	1	740	c.279G>T	c.(277-279)ctG>ctT	p.L93L		NM_194284.2	NP_919260.2	Q96B33	CLD23_HUMAN	claudin 23	93					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(2)	2		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.071)|READ - Rectum adenocarcinoma(644;0.238)		CCACGGTCCTGGGGCTTCTGC	0.716																																					p.L93L		Atlas-SNP	.											.	CLDN23	5	.	0			c.G279T						.						11.0	15.0	14.0					8																	8560187		2160	4242	6402	SO:0001819	synonymous_variant	137075	exon1			GGTCCTGGGGCTT	AK123547	CCDS55195.1	8p23.1	2006-04-12				ENSG00000253958		"""Claudins"""	17591	protein-coding gene	gene with protein product		609203				12736707	Standard	NM_194284		Approved	CLDNL	uc003wsi.3	Q96B33		ENST00000519106.1:c.279G>T	chr8.hg19:g.8560187G>T		17.0	0.0		17.0	6.0	NM_194284	Q08AJ3	Silent	SNP	ENST00000519106.1	hg19	CCDS55195.1																																																																																			.	.		0.716	CLDN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374721.1	NM_194284	
LONRF1	91694	hgsc.bcm.edu	37	8	12586494	12586494	+	Silent	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr8:12586494A>G	ENST00000398246.3	-	10	1995	c.1926T>C	c.(1924-1926)gtT>gtC	p.V642V	MIR3926-2_ENST00000578598.1_RNA|LONRF1_ENST00000525024.1_Silent_p.V68V|LONRF1_ENST00000533751.1_Silent_p.V285V	NM_152271.3	NP_689484.3	Q17RB8	LONF1_HUMAN	LON peptidase N-terminal domain and ring finger 1	642	Lon.						ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19				READ - Rectum adenocarcinoma(644;0.236)		GCTTTCCTCCAACTGTATCAA	0.363																																					p.V642V		Atlas-SNP	.											.	LONRF1	45	.	0			c.T1926C						.						143.0	133.0	136.0					8																	12586494		1843	4089	5932	SO:0001819	synonymous_variant	91694	exon10			TCCTCCAACTGTA	AK074329	CCDS5987.2	8p23.1	2013-01-09			ENSG00000154359	ENSG00000154359		"""RING-type (C3HC4) zinc fingers"""	26302	protein-coding gene	gene with protein product						18253036	Standard	XM_005273685		Approved	FLJ23749, RNF191	uc003wwd.1	Q17RB8	OTTHUMG00000165475	ENST00000398246.3:c.1926T>C	chr8.hg19:g.12586494A>G		311.0	0.0		122.0	6.0	NM_152271	B4DM29|B4DU84|Q8TEA0|Q9BSV1	Silent	SNP	ENST00000398246.3	hg19	CCDS5987.2																																																																																			.	.		0.363	LONRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251693.2	NM_152271	
FGF20	26281	hgsc.bcm.edu	37	8	16850684	16850684	+	Missense_Mutation	SNP	C	C	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr8:16850684C>T	ENST00000180166.5	-	3	681	c.533G>A	c.(532-534)gGc>gAc	p.G178D		NM_019851.2	NP_062825.1	Q9NP95	FGF20_HUMAN	fibroblast growth factor 20	178					cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inner ear receptor cell differentiation (GO:0060113)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of cardiac muscle cell proliferation (GO:0060043)|signal transduction (GO:0007165)	extracellular region (GO:0005576)				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	11				Colorectal(111;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		GGACCTGGCGCCATCTCTTGG	0.428																																					p.G178D		Atlas-SNP	.											.	FGF20	16	.	0			c.G533A						.						184.0	162.0	170.0					8																	16850684		2203	4300	6503	SO:0001583	missense	26281	exon3			CTGGCGCCATCTC	AB030648	CCDS5998.1	8p22	2008-05-15			ENSG00000078579	ENSG00000078579			3677	protein-coding gene	gene with protein product		605558				10913340	Standard	NM_019851		Approved		uc003wxc.1	Q9NP95	OTTHUMG00000096964	ENST00000180166.5:c.533G>A	chr8.hg19:g.16850684C>T	ENSP00000180166:p.Gly178Asp	180.0	0.0		80.0	4.0	NM_019851	B2RPH5	Missense_Mutation	SNP	ENST00000180166.5	hg19	CCDS5998.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.0|25.0	4.591440|4.591440	0.86851|0.86851	.|.	.|.	ENSG00000078579|ENSG00000078579	ENST00000180166|ENST00000519941	D|.	0.84873|.	-1.91|.	5.85|5.85	5.85|5.85	0.93711|0.93711	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.90106|.	0.6909|.	H|H	0.96430|0.96430	3.82|3.82	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|.	0.92071|.	0.5664|.	10|.	0.87932|.	D|.	0|.	.|.	20.5471|20.5471	0.99284|0.99284	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	178|.	Q9NP95|.	FGF20_HUMAN|.	D|X	178|79	ENSP00000180166:G178D|.	ENSP00000180166:G178D|.	G|W	-|-	2|3	0|0	FGF20|FGF20	16895055|16895055	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.757000|0.757000	0.42996|0.42996	7.818000|7.818000	0.86416|0.86416	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GGC|TGG	.	.		0.428	FGF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214030.1		
MTMR7	9108	hgsc.bcm.edu	37	8	17163419	17163419	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr8:17163419T>C	ENST00000180173.5	-	11	1233	c.1199A>G	c.(1198-1200)gAc>gGc	p.D400G	MTMR7_ENST00000521857.1_Missense_Mutation_p.D400G|MTMR7_ENST00000398099.3_5'UTR	NM_004686.4	NP_004677.3	Q9Y216	MTMR7_HUMAN	myotubularin related protein 7	400	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				inositol phosphate dephosphorylation (GO:0046855)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	32				Colorectal(111;0.112)		AATGAACTGGTCAATAACTGG	0.343																																					p.D400G		Atlas-SNP	.											.	MTMR7	75	.	0			c.A1199G						.						99.0	98.0	98.0					8																	17163419		2203	4300	6503	SO:0001583	missense	9108	exon11			AACTGGTCAATAA	AF073482	CCDS34851.1	8p22	2011-06-09			ENSG00000003987	ENSG00000003987		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7454	protein-coding gene	gene with protein product		603562				9736772, 12890864	Standard	NM_004686		Approved		uc003wxm.3	Q9Y216	OTTHUMG00000163771	ENST00000180173.5:c.1199A>G	chr8.hg19:g.17163419T>C	ENSP00000180173:p.Asp400Gly	173.0	0.0		91.0	4.0	NM_004686	A1L4K9|B4DG87|Q68DX4	Missense_Mutation	SNP	ENST00000180173.5	hg19	CCDS34851.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.971386	0.74246	.	.	ENSG00000003987	ENST00000180173;ENST00000521857	D;D	0.89875	-2.58;-2.58	4.87	4.87	0.63330	Myotubularin phosphatase domain (1);	0.000000	0.85682	D	0.000000	D	0.88507	0.6455	L	0.39898	1.24	0.80722	D	1	P;P	0.50528	0.936;0.882	P;P	0.51415	0.669;0.521	D	0.88376	0.2998	10	0.42905	T	0.14	.	14.9478	0.71047	0.0:0.0:0.0:1.0	.	400;400	Q9Y216-2;Q9Y216	.;MTMR7_HUMAN	G	400	ENSP00000180173:D400G;ENSP00000429733:D400G	ENSP00000180173:D400G	D	-	2	0	MTMR7	17207790	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.804000	0.62554	2.180000	0.69256	0.460000	0.39030	GAC	.	.		0.343	MTMR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375311.1	NM_004686	
MTUS1	57509	hgsc.bcm.edu	37	8	17541870	17541870	+	Silent	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr8:17541870T>C	ENST00000262102.6	-	7	3029	c.2805A>G	c.(2803-2805)gcA>gcG	p.A935A	MTUS1_ENST00000519263.1_Silent_p.A881A|MTUS1_ENST00000381861.3_Silent_p.A182A|MIR548V_ENST00000584165.1_RNA|MTUS1_ENST00000381869.3_Silent_p.A881A|MTUS1_ENST00000518713.1_5'UTR|MTUS1_ENST00000297488.6_Silent_p.A101A|MTUS1_ENST00000544260.1_Silent_p.A80A	NM_001001924.2	NP_001001924.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	935					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)		CAACTGTCAATGCCTCAAACT	0.468																																					p.A935A		Atlas-SNP	.											.	MTUS1	144	.	0			c.A2805G						.						142.0	141.0	141.0					8																	17541870		2005	4164	6169	SO:0001819	synonymous_variant	57509	exon7			TGTCAATGCCTCA	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.2805A>G	chr8.hg19:g.17541870T>C		169.0	0.0		79.0	4.0	NM_001001924	A8K135|B2RBJ6|B3KWJ9|B4DH03|B9EGA1|D3DSP8|Q63HJ6|Q659F4|Q6PK49|Q6URW7|Q8N4M6|Q8WTT9|Q9H7T2	Silent	SNP	ENST00000262102.6	hg19	CCDS43717.1																																																																																			.	.		0.468	MTUS1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000375247.1	XM_372031	
PCM1	5108	hgsc.bcm.edu	37	8	17822267	17822267	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr8:17822267A>G	ENST00000519253.1	+	18	3096	c.2845A>G	c.(2845-2847)Act>Gct	p.T949A	PCM1_ENST00000325083.8_Missense_Mutation_p.T949A|PCM1_ENST00000524226.1_Missense_Mutation_p.T950A			Q15154	PCM1_HUMAN	pericentriolar material 1	949					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)		TGGAAAGGAAACTAAAAATAG	0.378			T	"""RET, JAK2"""	"""papillary thyroid, CML, MPD"""																																p.T949A		Atlas-SNP	.		Dom	yes		8	8p22-p21.3	5108	pericentriolar material 1  (PTC4)		"""E, L"""	.	PCM1	120	.	0			c.A2845G						.						117.0	114.0	115.0					8																	17822267		1868	4101	5969	SO:0001583	missense	5108	exon18			AAGGAAACTAAAA		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.2845A>G	chr8.hg19:g.17822267A>G	ENSP00000431099:p.Thr949Ala	183.0	0.0		94.0	4.0	NM_006197	Q58F13|Q6P1K7|Q8NB85|Q9BWC1|Q9H4A2	Missense_Mutation	SNP	ENST00000519253.1	hg19		.	.	.	.	.	.	.	.	.	.	A	17.77	3.471607	0.63737	.	.	ENSG00000078674	ENST00000325083;ENST00000519253;ENST00000524226	T;T;T	0.18502	2.21;2.21;2.21	5.6	0.0601	0.14334	.	0.422521	0.29660	N	0.011525	T	0.12390	0.0301	N	0.22421	0.69	0.80722	D	1	D;B;D	0.61697	0.99;0.001;0.99	P;B;P	0.55999	0.789;0.003;0.789	T	0.44997	-0.9291	10	0.08837	T	0.75	-3.0735	2.3085	0.04180	0.5164:0.2397:0.1288:0.1152	.	949;950;949	E7ETA6;E7EV56;Q15154	.;.;PCM1_HUMAN	A	949;949;950	ENSP00000327077:T949A;ENSP00000431099:T949A;ENSP00000430521:T950A	ENSP00000327077:T949A	T	+	1	0	PCM1	17866547	1.000000	0.71417	0.994000	0.49952	0.991000	0.79684	1.507000	0.35758	-0.135000	0.11495	-0.256000	0.11100	ACT	.	.		0.378	PCM1-003	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000374800.1	NM_006197	
GFRA2	2675	hgsc.bcm.edu	37	8	21562513	21562513	+	Silent	SNP	G	G	T	rs375828964		TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr8:21562513G>T	ENST00000524240.1	-	6	1679	c.1029C>A	c.(1027-1029)acC>acA	p.T343T	GFRA2_ENST00000518077.1_Silent_p.T210T|GFRA2_ENST00000400782.4_Silent_p.T238T|GFRA2_ENST00000517328.1_Silent_p.T343T	NM_001495.4	NP_001486.4	O00451	GFRA2_HUMAN	GDNF family receptor alpha 2	343					negative regulation of protein autophosphorylation (GO:0031953)|nervous system development (GO:0007399)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	anchored component of membrane (GO:0031225)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	glial cell-derived neurotrophic factor receptor activity (GO:0016167)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|prostate(1)|skin(1)	7				Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)		ATGGGTTCTCGGTGAAGTCCC	0.612																																					p.T343T		Atlas-SNP	.											.	GFRA2	23	.	0			c.C1029A						.						50.0	54.0	52.0					8																	21562513		1993	4176	6169	SO:0001819	synonymous_variant	2675	exon6			GTTCTCGGTGAAG	AF002700	CCDS47816.1, CCDS55207.1	8p21.3	2008-05-02			ENSG00000168546	ENSG00000168546			4244	protein-coding gene	gene with protein product		601956				9177201	Standard	NM_001165038		Approved	RETL2, GDNFRB, NTNRA, TRNR2	uc003wzu.1	O00451	OTTHUMG00000163897	ENST00000524240.1:c.1029C>A	chr8.hg19:g.21562513G>T		160.0	0.0		94.0	4.0	NM_001495	E9PD47|O15316|O15328|Q58J92|Q6GTR9|Q7Z5C2	Silent	SNP	ENST00000524240.1	hg19	CCDS47816.1																																																																																			.	.		0.612	GFRA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376254.3	NM_001495	
FAM160B2	64760	hgsc.bcm.edu	37	8	21955610	21955610	+	Missense_Mutation	SNP	G	G	T	rs556491204		TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr8:21955610G>T	ENST00000289921.7	+	6	603	c.557G>T	c.(556-558)tGc>tTc	p.C186F		NM_022749.5	NP_073586.5	Q86V87	F16B2_HUMAN	family with sequence similarity 160, member B2	186										endometrium(2)|kidney(1)|lung(2)|prostate(3)|urinary_tract(1)	9						AAGAAAGCATGCGGAGAACCC	0.612																																					p.C186F		Atlas-SNP	.											.	FAM160B2	35	.	0			c.G557T						.						27.0	32.0	30.0					8																	21955610		2051	4168	6219	SO:0001583	missense	64760	exon6			AAGCATGCGGAGA	AK025454	CCDS6021.2	8p21.3	2012-11-30	2008-06-05	2008-06-05	ENSG00000158863	ENSG00000158863			16492	protein-coding gene	gene with protein product			"""retinoic acid induced 16"""	RAI16		22971576, 15626329	Standard	XR_247128		Approved	FLJ21801	uc011kyx.2	Q86V87	OTTHUMG00000097088	ENST00000289921.7:c.557G>T	chr8.hg19:g.21955610G>T	ENSP00000289921:p.Cys186Phe	206.0	0.0		77.0	5.0	NM_022749	B2RDQ5|B3KNX1|Q2M211|Q71JB5|Q7L3J6|Q969T0|Q9H6W4	Missense_Mutation	SNP	ENST00000289921.7	hg19	CCDS6021.2	.	.	.	.	.	.	.	.	.	.	.	7.783	0.710022	0.15239	.	.	ENSG00000158863	ENST00000289921	T	0.13420	2.59	4.71	2.77	0.32553	.	0.878018	0.10183	N	0.705607	T	0.10937	0.0267	N	0.22421	0.69	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.25082	-1.0142	10	0.52906	T	0.07	-7.4293	11.6316	0.51178	0.0:0.6389:0.3611:0.0	.	186	Q86V87	F16B2_HUMAN	F	186	ENSP00000289921:C186F	ENSP00000289921:C186F	C	+	2	0	FAM160B2	22011556	0.047000	0.20315	0.008000	0.14137	0.001000	0.01503	0.606000	0.24194	1.101000	0.41535	-0.311000	0.09066	TGC	.	.		0.612	FAM160B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375334.2		
HR	55806	hgsc.bcm.edu	37	8	21986470	21986470	+	Missense_Mutation	SNP	T	T	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr8:21986470T>G	ENST00000381418.4	-	2	1694	c.214A>C	c.(214-216)Atg>Ctg	p.M72L	HR_ENST00000518377.1_5'Flank|HR_ENST00000312841.8_Missense_Mutation_p.M72L	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	72					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		AGTGGGAGCATGTCCTTGGGG	0.662																																					p.M72L		Atlas-SNP	.											.	HR	71	.	0			c.A214C						.						40.0	43.0	42.0					8																	21986470		2203	4300	6503	SO:0001583	missense	55806	exon2			GGAGCATGTCCTT	AF039196	CCDS6022.1, CCDS6023.1	8p12	2012-12-07	2012-12-07		ENSG00000168453	ENSG00000168453			5172	protein-coding gene	gene with protein product		602302	"""hairless (mouse) homolog"", ""hairless homolog (mouse)"""	ALUNC		10051399, 9463324	Standard	NM_018411		Approved	AU	uc003xas.3	O43593	OTTHUMG00000097089	ENST00000381418.4:c.214A>C	chr8.hg19:g.21986470T>G	ENSP00000370826:p.Met72Leu	83.0	0.0		60.0	20.0	NM_018411	Q6GS30|Q96H33|Q9NPE1	Missense_Mutation	SNP	ENST00000381418.4	hg19	CCDS6022.1	.	.	.	.	.	.	.	.	.	.	T	11.70	1.716994	0.30413	.	.	ENSG00000168453	ENST00000381418;ENST00000312841	T;T	0.70399	-0.48;-0.48	4.8	-0.255	0.12988	.	1.001710	0.08053	N	0.996871	T	0.46776	0.1410	N	0.08118	0	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.002;0.002;0.0	T	0.37407	-0.9707	10	0.72032	D	0.01	1.3083	4.1172	0.10088	0.0:0.3827:0.2242:0.3931	.	72;72;72	A6NCE3;O43593-2;O43593	.;.;HAIR_HUMAN	L	72	ENSP00000370826:M72L;ENSP00000326765:M72L	ENSP00000326765:M72L	M	-	1	0	HR	22042415	0.030000	0.19436	0.361000	0.25849	0.536000	0.34869	-0.139000	0.10358	0.064000	0.16427	0.459000	0.35465	ATG	.	.		0.662	HR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214213.1		
CDCA2	157313	hgsc.bcm.edu	37	8	25327485	25327485	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr8:25327485A>G	ENST00000330560.3	+	7	1286	c.809A>G	c.(808-810)gAg>gGg	p.E270G	CDCA2_ENST00000380665.3_Missense_Mutation_p.E255G	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	270					mitotic nuclear division (GO:0007067)|positive regulation of protein dephosphorylation (GO:0035307)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		GAGCTCACAGAGACTTCAAAT	0.368																																					p.E270G		Atlas-SNP	.											.	CDCA2	78	.	0			c.A809G						.						81.0	81.0	81.0					8																	25327485		2203	4299	6502	SO:0001583	missense	157313	exon7			TCACAGAGACTTC	BG354575	CCDS6049.1	8p21.2	2014-06-12			ENSG00000184661	ENSG00000184661			14623	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 81"""					12188893, 16492807	Standard	NM_152562		Approved	Repo-Man, PPP1R81	uc003xep.1	Q69YH5	OTTHUMG00000099429	ENST00000330560.3:c.809A>G	chr8.hg19:g.25327485A>G	ENSP00000328228:p.Glu270Gly	180.0	0.0		82.0	4.0	NM_152562	Q3SX74|Q4G0W0|Q5RKN0|Q69YI4|Q6P464|Q8N7C1	Missense_Mutation	SNP	ENST00000330560.3	hg19	CCDS6049.1	.	.	.	.	.	.	.	.	.	.	A	17.91	3.503370	0.64298	.	.	ENSG00000184661	ENST00000330560;ENST00000380665	T;T	0.34072	1.38;1.38	5.43	0.956	0.19608	.	0.765052	0.12235	N	0.487047	T	0.29491	0.0735	L	0.57536	1.79	0.20196	N	0.999926	B;B;B	0.13594	0.004;0.008;0.008	B;B;B	0.16289	0.006;0.015;0.015	T	0.35574	-0.9783	10	0.66056	D	0.02	-2.1077	2.5622	0.04774	0.4756:0.0:0.318:0.2064	.	270;255;270	B7Z5Q5;E9PEI0;Q69YH5	.;.;CDCA2_HUMAN	G	270;255	ENSP00000328228:E270G;ENSP00000370040:E255G	ENSP00000328228:E270G	E	+	2	0	CDCA2	25383402	0.510000	0.26171	0.155000	0.22561	0.545000	0.35147	1.291000	0.33330	0.334000	0.23590	0.528000	0.53228	GAG	.	.		0.368	CDCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216891.3	NM_152562	
ELP3	55140	hgsc.bcm.edu	37	8	27964302	27964302	+	Splice_Site	SNP	T	T	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr8:27964302T>A	ENST00000256398.8	+	4	706		c.e4+2		ELP3_ENST00000521015.1_Splice_Site|ELP3_ENST00000537665.1_Splice_Site|ELP3_ENST00000380353.4_Splice_Site|ELP3_ENST00000524103.1_Splice_Site|ELP3_ENST00000542181.1_Splice_Site|ELP3_ENST00000523760.1_Splice_Site	NM_001284220.1|NM_001284226.1|NM_018091.5	NP_001271149.1|NP_001271155.1|NP_060561.3	Q9H9T3	ELP3_HUMAN	elongator acetyltransferase complex subunit 3						chromatin organization (GO:0006325)|positive regulation of cell migration (GO:0030335)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)	histone acetyltransferase activity (GO:0004402)|iron-sulfur cluster binding (GO:0051536)|metal ion binding (GO:0046872)|phosphorylase kinase regulator activity (GO:0008607)			kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183)		TATATGTGTGTAAGTATGGTG	0.343																																					.		Atlas-SNP	.											.	ELP3	36	.	0			c.329+2T>A						.						95.0	91.0	92.0					8																	27964302		2203	4300	6503	SO:0001630	splice_region_variant	55140	exon4			TGTGTGTAAGTAT		CCDS6065.1, CCDS64860.1, CCDS64861.1, CCDS75717.1, CCDS75718.1	8p21.1	2012-08-14	2012-08-08		ENSG00000134014	ENSG00000134014		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Elongator acetyltransferase complex subunits"""	20696	protein-coding gene	gene with protein product		612722	"""elongation protein 3 homolog (S. cerevisiae)"""			11714725	Standard	NM_018091		Approved	FLJ10422, KAT9	uc003xgo.4	Q9H9T3	OTTHUMG00000102124	ENST00000256398.8:c.329+2T>A	chr8.hg19:g.27964302T>A		251.0	0.0		111.0	5.0	NM_018091	B4DE19|B4DIG1|E2QRI5|Q53G84|Q6AWB0|Q9BVF7|Q9NVZ1	Splice_Site	SNP	ENST00000256398.8	hg19	CCDS6065.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.417985	0.83449	.	.	ENSG00000134014	ENST00000520270;ENST00000521015;ENST00000521570;ENST00000256398;ENST00000542181;ENST00000524103;ENST00000524024;ENST00000537665;ENST00000380353;ENST00000520288;ENST00000521099	.	.	.	5.62	5.62	0.85841	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.0608	0.64800	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	ELP3	28020221	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	7.283000	0.78640	2.260000	0.74910	0.528000	0.53228	.	.	.		0.343	ELP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219963.2	NM_018091	Intron
TTI2	80185	hgsc.bcm.edu	37	8	33357923	33357923	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr8:33357923A>G	ENST00000431156.2	-	7	1963	c.1345T>C	c.(1345-1347)Tct>Cct	p.S449P	TTI2_ENST00000360742.5_Missense_Mutation_p.S449P|MAK16_ENST00000360128.6_3'UTR|TTI2_ENST00000520636.1_Missense_Mutation_p.S418P|TTI2_ENST00000519356.1_5'UTR	NM_001102401.2	NP_001095871.1	Q6NXR4	TTI2_HUMAN	TELO2 interacting protein 2	449																	CTCTTAACAGACTCAGGTGTA	0.498																																					p.S449P		Atlas-SNP	.											.	.	.	.	0			c.T1345C						.						105.0	91.0	96.0					8																	33357923		2203	4300	6503	SO:0001583	missense	80185	exon7			TAACAGACTCAGG	AK026916	CCDS6090.1	8p12	2011-11-10	2011-11-10	2011-09-22		ENSG00000129696			26262	protein-coding gene	gene with protein product		614426	"""chromosome 8 open reading frame 41"", ""Tel2 interacting protein 2 homolog (S. pombe)"""	C8orf41		20801936, 20810650	Standard	NM_025115		Approved	FLJ23263	uc003xjm.5	Q6NXR4		ENST00000431156.2:c.1345T>C	chr8.hg19:g.33357923A>G	ENSP00000411169:p.Ser449Pro	93.0	0.0		53.0	5.0	NM_001265581	D3DSV7|Q96IM2|Q9H5N4	Missense_Mutation	SNP	ENST00000431156.2	hg19	CCDS6090.1	.	.	.	.	.	.	.	.	.	.	A	0.005	-2.158687	0.00321	.	.	ENSG00000129696	ENST00000360742;ENST00000431156;ENST00000522668;ENST00000520636	T;T;T	0.55760	0.54;0.54;0.5	5.18	1.08	0.20341	.	0.522635	0.19441	N	0.114163	T	0.11110	0.0271	N	0.00368	-1.59	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.28586	-1.0039	10	0.02654	T	1	-0.0243	0.9793	0.01433	0.2886:0.1622:0.3939:0.1553	.	449;418	Q6NXR4;E5RIH5	TTI2_HUMAN;.	P	449;449;438;418	ENSP00000353971:S449P;ENSP00000411169:S449P;ENSP00000428401:S418P	ENSP00000353971:S449P	S	-	1	0	C8orf41	33477465	0.000000	0.05858	0.001000	0.08648	0.167000	0.22549	-0.104000	0.10923	-0.096000	0.12329	-0.479000	0.04858	TCT	.	.		0.498	TTI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376555.1	NM_025115	
BAG4	9530	hgsc.bcm.edu	37	8	38067825	38067825	+	Silent	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr8:38067825A>G	ENST00000287322.4	+	5	1459	c.1188A>G	c.(1186-1188)gaA>gaG	p.E396E	BAG4_ENST00000432471.2_Silent_p.E360E	NM_004874.3	NP_004865.1	O95429	BAG4_HUMAN	BCL2-associated athanogene 4	396	BAG. {ECO:0000255|PROSITE- ProRule:PRU00369}.				cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to tumor necrosis factor (GO:0071356)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mRNA modification (GO:0090367)|negative regulation of phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity (GO:2001145)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell adhesion (GO:0045785)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of stress fiber assembly (GO:0051496)|protein folding (GO:0006457)|protein heterooligomerization (GO:0051291)|protein localization to plasma membrane (GO:0072659)|ruffle assembly (GO:0097178)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|receptor signaling protein activity (GO:0005057)			breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|urinary_tract(1)	11	Colorectal(12;0.000442)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.121)				TTGAACAAGAAGTAGAAGAAT	0.398																																					p.E396E		Atlas-SNP	.											.	BAG4	32	.	0			c.A1188G						.						43.0	46.0	45.0					8																	38067825		2203	4300	6503	SO:0001819	synonymous_variant	9530	exon5			ACAAGAAGTAGAA	AF095194	CCDS6104.1, CCDS56533.1	8p11.23	2008-08-07			ENSG00000156735	ENSG00000156735			940	protein-coding gene	gene with protein product	"""silencer of death domains"""	603884				9873016, 9915703	Standard	NM_004874		Approved	SODD	uc003xky.2	O95429	OTTHUMG00000164064	ENST00000287322.4:c.1188A>G	chr8.hg19:g.38067825A>G		236.0	0.0		93.0	4.0	NM_004874	B4E217|O95818	Silent	SNP	ENST00000287322.4	hg19	CCDS6104.1																																																																																			.	.		0.398	BAG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377038.2	NM_004874	
IDO1	3620	hgsc.bcm.edu	37	8	39781035	39781035	+	Silent	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr8:39781035T>C	ENST00000518237.1	+	7	1224	c.585T>C	c.(583-585)acT>acC	p.T195T	RP11-44K6.3_ENST00000517623.1_RNA|IDO1_ENST00000522495.1_Silent_p.T195T|RP11-44K6.4_ENST00000522970.1_RNA	NM_002164.5	NP_002155.1	P14902	I23O1_HUMAN	indoleamine 2,3-dioxygenase 1	195					cellular nitrogen compound metabolic process (GO:0034641)|cytokine production involved in inflammatory response (GO:0002534)|female pregnancy (GO:0007565)|kynurenic acid biosynthetic process (GO:0034276)|multicellular organismal response to stress (GO:0033555)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of T cell apoptotic process (GO:0070233)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chronic inflammatory response (GO:0002678)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of type 2 immune response (GO:0002830)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)|swimming behavior (GO:0036269)|tryptophan catabolic process (GO:0006569)|tryptophan catabolic process to kynurenine (GO:0019441)	cytosol (GO:0005829)|smooth muscle contractile fiber (GO:0030485)|stereocilium bundle (GO:0032421)	electron carrier activity (GO:0009055)|heme binding (GO:0020037)|indoleamine 2,3-dioxygenase activity (GO:0033754)|metal ion binding (GO:0046872)|tryptophan 2,3-dioxygenase activity (GO:0004833)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2)	12					L-Tryptophan(DB00150)|Melatonin(DB01065)	AACGGGACACTTTGCTAAAGG	0.388																																					p.T195T		Atlas-SNP	.											.	IDO1	43	.	0			c.T585C						.						89.0	88.0	88.0					8																	39781035		1879	4124	6003	SO:0001819	synonymous_variant	3620	exon7			GGACACTTTGCTA	M34455	CCDS47847.1	8p12-p11	2009-01-07	2009-01-07	2009-01-07		ENSG00000131203	1.13.11.52		6059	protein-coding gene	gene with protein product		147435	"""indoleamine-pyrrole 2,3 dioxygenase"""	IDO, INDO		2109605, 8404046	Standard	NM_002164		Approved		uc003xnm.3	P14902		ENST00000518237.1:c.585T>C	chr8.hg19:g.39781035T>C		152.0	0.0		92.0	4.0	NM_002164	Q540B4	Silent	SNP	ENST00000518237.1	hg19	CCDS47847.1																																																																																			.	.		0.388	IDO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376987.1	NM_002164	
KAT6A	7994	hgsc.bcm.edu	37	8	41906387	41906387	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr8:41906387A>G	ENST00000396930.3	-	3	652	c.109T>C	c.(109-111)Tct>Cct	p.S37P	KAT6A_ENST00000406337.1_Missense_Mutation_p.S37P|KAT6A_ENST00000485568.1_Missense_Mutation_p.S37P|KAT6A_ENST00000265713.2_Missense_Mutation_p.S37P	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	37	Required for activation of RUNX1-1.				aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										TGGGATGAAGACACAGCATTG	0.383																																					p.S37P		Atlas-SNP	.											.	.	.	.	0			c.T109C						.						226.0	214.0	218.0					8																	41906387		2203	4300	6503	SO:0001583	missense	7994	exon3			ATGAAGACACAGC	U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	13013	protein-coding gene	gene with protein product	"""Monocytic leukemia zinc finger protein"""	601408	"""runt-related transcription factor binding protein 2"", ""MYST histone acetyltransferase (monocytic leukemia) 3"""	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.109T>C	chr8.hg19:g.41906387A>G	ENSP00000380136:p.Ser37Pro	219.0	0.0		92.0	4.0	NM_001099412	Q76L81	Missense_Mutation	SNP	ENST00000396930.3	hg19	CCDS6124.1	.	.	.	.	.	.	.	.	.	.	A	12.25	1.882968	0.33255	.	.	ENSG00000083168	ENST00000265713;ENST00000406337;ENST00000396930;ENST00000485568	T;T;T;D	0.84800	0.14;0.14;0.14;-1.9	5.66	5.66	0.87406	.	0.000000	0.64402	D	0.000002	D	0.89729	0.6799	L	0.54323	1.7	0.50813	D	0.999894	D;D	0.76494	0.997;0.999	P;D	0.63488	0.897;0.915	D	0.90135	0.4209	10	0.54805	T	0.06	-13.1176	15.8861	0.79251	1.0:0.0:0.0:0.0	.	37;37	A5PLL3;Q92794	.;KAT6A_HUMAN	P	37	ENSP00000265713:S37P;ENSP00000385888:S37P;ENSP00000380136:S37P;ENSP00000430606:S37P	ENSP00000265713:S37P	S	-	1	0	KAT6A	42025544	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	5.594000	0.67557	2.156000	0.67533	0.533000	0.62120	TCT	.	.		0.383	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766	
SNTG1	54212	hgsc.bcm.edu	37	8	51617305	51617305	+	Missense_Mutation	SNP	G	G	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr8:51617305G>A	ENST00000522124.1	+	16	1845	c.1184G>A	c.(1183-1185)cGg>cAg	p.R395Q	SNTG1_ENST00000276467.5_Missense_Mutation_p.R395Q|SNTG1_ENST00000517473.1_Missense_Mutation_p.R395Q|SNTG1_ENST00000518864.1_Missense_Mutation_p.R395Q	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	395					cell communication (GO:0007154)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)|syntrophin complex (GO:0016013)	protein C-terminus binding (GO:0008022)			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				GAAGTAGAACGGATACAGGTG	0.493																																					p.R395Q		Atlas-SNP	.											.	SNTG1	304	.	0			c.G1184A						.						81.0	67.0	72.0					8																	51617305		2203	4300	6503	SO:0001583	missense	54212	exon16			TAGAACGGATACA	AJ003030	CCDS6147.1, CCDS75737.1	8q11-q12	2008-07-03				ENSG00000147481			13740	protein-coding gene	gene with protein product		608714				10747910	Standard	NM_018967		Approved	SYN4, G1SYN	uc003xqs.1	Q9NSN8		ENST00000522124.1:c.1184G>A	chr8.hg19:g.51617305G>A	ENSP00000429842:p.Arg395Gln	74.0	0.0		88.0	4.0	NM_018967	Q2M3Q0|Q9NY98	Missense_Mutation	SNP	ENST00000522124.1	hg19	CCDS6147.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.756508	0.89843	.	.	ENSG00000147481	ENST00000518864;ENST00000522124;ENST00000517473;ENST00000276467	T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14	5.19	5.19	0.71726	.	0.048531	0.85682	D	0.000000	D	0.84871	0.5568	L	0.50333	1.59	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.97110	1.0;0.945	T	0.82271	-0.0540	10	0.30078	T	0.28	.	18.0775	0.89432	0.0:0.0:1.0:0.0	.	395;395	Q9NSN8-2;Q9NSN8	.;SNTG1_HUMAN	Q	395	ENSP00000429276:R395Q;ENSP00000429842:R395Q;ENSP00000431123:R395Q;ENSP00000276467:R395Q	ENSP00000276467:R395Q	R	+	2	0	SNTG1	51779858	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	9.141000	0.94612	2.577000	0.86979	0.643000	0.83706	CGG	.	.		0.493	SNTG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377964.1		
PXDNL	137902	hgsc.bcm.edu	37	8	52321593	52321593	+	Missense_Mutation	SNP	C	C	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr8:52321593C>T	ENST00000356297.4	-	17	2691	c.2591G>A	c.(2590-2592)cGc>cAc	p.R864H	PXDNL_ENST00000543296.1_Missense_Mutation_p.R864H	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	864					hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.R63L(1)|p.R864L(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GGGGCTGGAGCGCGCGAAGAG	0.662																																					p.R864H		Atlas-SNP	.											PXDNL_ENST00000356297,colon,carcinoma,-1,1	PXDNL	414	.	2	Substitution - Missense(2)	lung(2)	c.G2591A						.						23.0	27.0	25.0					8																	52321593		2024	4155	6179	SO:0001583	missense	137902	exon17			CTGGAGCGCGCGA		CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.2591G>A	chr8.hg19:g.52321593C>T	ENSP00000348645:p.Arg864His	45.0	0.0		65.0	3.0	NM_144651	B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	ENST00000356297.4	hg19	CCDS47855.1	.	.	.	.	.	.	.	.	.	.	C	14.05	2.420939	0.42918	.	.	ENSG00000147485	ENST00000356297;ENST00000543296	D;D	0.84660	-1.88;-1.88	3.31	2.41	0.29592	.	0.272281	0.26156	N	0.026002	D	0.94991	0.8379	H	0.99286	4.5	0.35901	D	0.830399	D	0.89917	1.0	D	0.87578	0.998	D	0.95258	0.8366	10	0.87932	D	0	.	9.6539	0.39914	0.2105:0.7895:0.0:0.0	.	864	A1KZ92	PXDNL_HUMAN	H	864	ENSP00000348645:R864H;ENSP00000444865:R864H	ENSP00000348645:R864H	R	-	2	0	PXDNL	52484146	1.000000	0.71417	0.249000	0.24280	0.019000	0.09904	5.019000	0.64060	0.487000	0.27698	0.650000	0.86243	CGC	.	.		0.662	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651	
NSMAF	8439	hgsc.bcm.edu	37	8	59520364	59520364	+	Silent	SNP	G	G	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr8:59520364G>T	ENST00000038176.3	-	11	935	c.723C>A	c.(721-723)cgC>cgA	p.R241R	NSMAF_ENST00000519858.1_5'UTR|NSMAF_ENST00000427130.2_Silent_p.R272R	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation associated factor	241	GRAM.				ceramide metabolic process (GO:0006672)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	receptor signaling protein activity (GO:0005057)|sphingomyelin phosphodiesterase activator activity (GO:0016230)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				TGTAGATGCGGCGGACATCTT	0.443																																					p.R272R		Atlas-SNP	.											.	NSMAF	156	.	0			c.C816A						.						143.0	147.0	146.0					8																	59520364		2203	4300	6503	SO:0001819	synonymous_variant	8439	exon11			GATGCGGCGGACA	X96586	CCDS6173.1, CCDS47864.1	8q12-q13	2013-01-10			ENSG00000035681	ENSG00000035681		"""WD repeat domain containing"""	8017	protein-coding gene	gene with protein product		603043				8808629, 10640829	Standard	NM_003580		Approved	FAN	uc011lee.2	Q92636	OTTHUMG00000164352	ENST00000038176.3:c.723C>A	chr8.hg19:g.59520364G>T		88.0	0.0		122.0	5.0	NM_001144772	B4DFB0|E9PCH0|Q8IW26	Silent	SNP	ENST00000038176.3	hg19	CCDS6173.1																																																																																			.	.		0.443	NSMAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378384.1	NM_003580	
CHD7	55636	hgsc.bcm.edu	37	8	61765123	61765123	+	Silent	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr8:61765123T>C	ENST00000423902.2	+	30	6440	c.5961T>C	c.(5959-5961)ccT>ccC	p.P1987P	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1987					adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			TTTTTGACCCTGTGAAACAGC	0.398																																					p.P1987P		Atlas-SNP	.											.	CHD7	534	.	0			c.T5961C						.						64.0	58.0	60.0					8																	61765123		1832	4085	5917	SO:0001819	synonymous_variant	55636	exon30			TGACCCTGTGAAA	AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.5961T>C	chr8.hg19:g.61765123T>C		92.0	0.0		102.0	5.0	NM_017780	D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Silent	SNP	ENST00000423902.2	hg19	CCDS47865.1																																																																																			.	.		0.398	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762	
NKAIN3	286183	hgsc.bcm.edu	37	8	63492103	63492103	+	Silent	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr8:63492103A>G	ENST00000523211.1	+	2	192	c.60A>G	c.(58-60)tcA>tcG	p.S20S	NKAIN3_ENST00000328472.5_Silent_p.S20S|NKAIN3_ENST00000519049.1_3'UTR	NM_173688.2	NP_775959.1	Q8N8D7	NKAI3_HUMAN	Na+/K+ transporting ATPase interacting 3	20						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				kidney(3)|large_intestine(2)|lung(8)	13	Breast(64;0.127)	Lung NSC(129;0.187)				TGTAGGTCTCAGCATTAGAGA	0.373																																					p.S20S		Atlas-SNP	.											.	NKAIN3	32	.	0			c.A60G						.						160.0	154.0	156.0					8																	63492103		1855	4101	5956	SO:0001819	synonymous_variant	286183	exon2			GGTCTCAGCATTA	AK096949	CCDS55239.1	8q12.3	2014-08-12	2007-10-04	2007-10-04	ENSG00000185942	ENSG00000185942		"""Na+/K+ transporting ATPase interacting"""	26829	protein-coding gene	gene with protein product		612872	"""family with sequence similarity 77, member D"""	FAM77D		17606467	Standard	NM_173688		Approved	FLJ39630	uc010lyq.1	Q8N8D7	OTTHUMG00000164361	ENST00000523211.1:c.60A>G	chr8.hg19:g.63492103A>G		112.0	0.0		99.0	5.0	NM_173688		Silent	SNP	ENST00000523211.1	hg19	CCDS55239.1																																																																																			.	.		0.373	NKAIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378447.2	NM_173688	
MYBL1	4603	hgsc.bcm.edu	37	8	67492490	67492490	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr8:67492490T>C	ENST00000522677.3	-	9	1389	c.979A>G	c.(979-981)Aat>Gat	p.N327D	MYBL1_ENST00000517885.1_Intron|MYBL1_ENST00000524176.2_Missense_Mutation_p.N327D	NM_001080416.2|NM_001144755.1	NP_001073885.1|NP_001138227.1	P10243	MYBA_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 1	327	Negative regulatory domain. {ECO:0000250}.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|skin(1)	25			Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938)			ACAGGCTGATTTTCATCCATA	0.443																																					p.N327D		Atlas-SNP	.											.	MYBL1	73	.	0			c.A979G						.						72.0	72.0	72.0					8																	67492490		1941	4140	6081	SO:0001583	missense	4603	exon9			GCTGATTTTCATC	X13294	CCDS47867.1, CCDS55241.1	8q22	2013-07-09	2013-07-09		ENSG00000185697	ENSG00000185697			7547	protein-coding gene	gene with protein product		159405					Standard	XM_005251251		Approved	AMYB, A-myb	uc003xwj.3	P10243	OTTHUMG00000164559	ENST00000522677.3:c.979A>G	chr8.hg19:g.67492490T>C	ENSP00000429633:p.Asn327Asp	88.0	0.0		100.0	4.0	NM_001080416	E7EW29|Q495F9	Missense_Mutation	SNP	ENST00000522677.3	hg19	CCDS47867.1	.	.	.	.	.	.	.	.	.	.	T	11.97	1.798778	0.31777	.	.	ENSG00000185697	ENST00000522677;ENST00000524176	T;T	0.17054	2.79;2.3	5.34	5.34	0.76211	.	0.127826	0.53938	D	0.000049	T	0.12561	0.0305	L	0.44542	1.39	0.26490	N	0.974958	B;B;B	0.34015	0.358;0.435;0.358	B;B;B	0.29598	0.093;0.104;0.093	T	0.18650	-1.0330	10	0.11485	T	0.65	-19.8586	10.5242	0.44938	0.0:0.0759:0.0:0.9241	.	327;326;327	Q495F9;Q495G0;P10243	.;.;MYBA_HUMAN	D	327	ENSP00000429633:N327D;ENSP00000428011:N327D	ENSP00000429633:N327D	N	-	1	0	MYBL1	67655044	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.145000	0.42207	2.007000	0.58848	0.533000	0.62120	AAT	.	.		0.443	MYBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379221.3	XM_034274	
NCOA2	10499	hgsc.bcm.edu	37	8	71074948	71074948	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr8:71074948T>C	ENST00000452400.2	-	9	1155	c.974A>G	c.(973-975)gAa>gGa	p.E325G		NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	325					cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucose metabolic process (GO:0010906)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|signal transducer activity (GO:0004871)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			ATGCTTACCTTCATGATGATG	0.443			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""																																p.E325G		Atlas-SNP	.		Dom	yes		8	8q13.1	10499	nuclear receptor coactivator 2 (TIF2)		L	.	NCOA2	147	.	0			c.A974G						.						103.0	99.0	101.0					8																	71074948		1938	4137	6075	SO:0001583	missense	10499	exon9			TTACCTTCATGAT	X97674	CCDS47872.1	8q13.3	2011-07-01			ENSG00000140396	ENSG00000140396		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7669	protein-coding gene	gene with protein product		601993				9111344, 8670870	Standard	XM_005251128		Approved	TIF2, GRIP1, NCoA-2, KAT13C, bHLHe75	uc003xyn.1	Q15596	OTTHUMG00000164671	ENST00000452400.2:c.974A>G	chr8.hg19:g.71074948T>C	ENSP00000399968:p.Glu325Gly	95.0	0.0		88.0	4.0	NM_006540	Q14CD2	Missense_Mutation	SNP	ENST00000452400.2	hg19	CCDS47872.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.037192	0.75617	.	.	ENSG00000140396	ENST00000452400	T	0.20463	2.07	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.27454	0.0674	M	0.76170	2.325	0.80722	D	1	P	0.42078	0.77	B	0.36186	0.219	T	0.14309	-1.0477	10	0.87932	D	0	.	16.0238	0.80522	0.0:0.0:0.0:1.0	.	325	Q15596	NCOA2_HUMAN	G	325	ENSP00000399968:E325G	ENSP00000399968:E325G	E	-	2	0	NCOA2	71237502	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.868000	0.87116	2.367000	0.80283	0.528000	0.53228	GAA	.	.		0.443	NCOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379696.1		
LRRCC1	85444	hgsc.bcm.edu	37	8	86039024	86039024	+	Missense_Mutation	SNP	C	C	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr8:86039024C>T	ENST00000360375.3	+	9	1522	c.1373C>T	c.(1372-1374)gCa>gTa	p.A458V	LRRCC1_ENST00000414626.2_Missense_Mutation_p.A438V	NM_033402.4	NP_208325.3	Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	458					mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						CATAAACATGCAAATGAAAAA	0.368																																					p.A458V		Atlas-SNP	.											.	LRRCC1	212	.	0			c.C1373T						.						91.0	86.0	87.0					8																	86039024		1860	4103	5963	SO:0001583	missense	85444	exon9			AACATGCAAATGA	BC030701	CCDS43750.1	8q21.2	2012-04-10	2012-04-10		ENSG00000133739	ENSG00000133739			29373	protein-coding gene	gene with protein product	"""centrosomal leucine-rich repeat and coiled-coil containing protein"", ""variable number of flagella 1 homolog (Chlamydomonas)"""		"""leucine rich repeat and coiled-coil domain containing 1"""			11214970, 18728398	Standard	NM_033402		Approved	KIAA1764, CLERC, VFL1	uc003ycw.3	Q9C099	OTTHUMG00000164784	ENST00000360375.3:c.1373C>T	chr8.hg19:g.86039024C>T	ENSP00000353538:p.Ala458Val	92.0	0.0		100.0	4.0	NM_033402	B4DYX6|B5RI11|Q8N768|Q96DK7|Q96N01	Missense_Mutation	SNP	ENST00000360375.3	hg19	CCDS43750.1	.	.	.	.	.	.	.	.	.	.	C	13.11	2.138855	0.37728	.	.	ENSG00000133739	ENST00000360375;ENST00000414626	T;T	0.34859	1.34;1.34	5.56	3.75	0.43078	.	0.456574	0.16334	N	0.218994	T	0.38506	0.1043	M	0.71581	2.175	0.45366	D	0.998352	B;P;B;B	0.42908	0.096;0.793;0.096;0.356	B;B;B;B	0.41723	0.028;0.365;0.028;0.073	T	0.18745	-1.0327	10	0.23891	T	0.37	-8.6088	11.775	0.51981	0.0:0.8548:0.0:0.1452	.	365;438;365;458	B4DV06;Q9C099-2;E9PE41;Q9C099	.;.;.;LRCC1_HUMAN	V	458;438	ENSP00000353538:A458V;ENSP00000394695:A438V	ENSP00000353538:A458V	A	+	2	0	LRRCC1	86226276	0.978000	0.34361	0.172000	0.22920	0.823000	0.46562	2.497000	0.45354	1.363000	0.46019	0.655000	0.94253	GCA	.	.		0.368	LRRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380267.1	NM_033402	
OSGIN2	734	hgsc.bcm.edu	37	8	90921887	90921887	+	Missense_Mutation	SNP	C	C	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr8:90921887C>T	ENST00000297438.2	+	2	360	c.5C>T	c.(4-6)cCa>cTa	p.P2L	OSGIN2_ENST00000520659.1_Missense_Mutation_p.P46L|OSGIN2_ENST00000451899.2_Missense_Mutation_p.P46L	NM_004337.2	NP_004328.1	Q9Y236	OSGI2_HUMAN	oxidative stress induced growth inhibitor family member 2	2					meiotic nuclear division (GO:0007126)					breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(1)	17			BRCA - Breast invasive adenocarcinoma(11;0.0344)			AAAGCGATGCCATTAGTTGAA	0.313																																					p.P46L		Atlas-SNP	.											.	OSGIN2	73	.	0			c.C137T						.						94.0	93.0	93.0					8																	90921887		2203	4300	6503	SO:0001583	missense	734	exon2			CGATGCCATTAGT	AF061326	CCDS6248.1, CCDS47888.1	8q21	2006-10-05	2006-10-05	2006-10-05	ENSG00000164823	ENSG00000164823			1355	protein-coding gene	gene with protein product		604598	"""chromosome 8 open reading frame 1"""	C8orf1		9933573	Standard	NM_004337		Approved	hT41	uc003yeh.3	Q9Y236	OTTHUMG00000163811	ENST00000297438.2:c.5C>T	chr8.hg19:g.90921887C>T	ENSP00000297438:p.Pro2Leu	141.0	0.0		121.0	6.0	NM_001126111		Missense_Mutation	SNP	ENST00000297438.2	hg19	CCDS6248.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.627997	0.87560	.	.	ENSG00000164823	ENST00000297438;ENST00000451899;ENST00000520659	T;T;T	0.55052	1.66;1.55;0.54	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.70219	0.3199	M	0.63428	1.95	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74348	0.983;0.946	T	0.73379	-0.4001	10	0.87932	D	0	-10.7578	16.9813	0.86328	0.0:1.0:0.0:0.0	.	46;2	Q9Y236-2;Q9Y236	.;OSGI2_HUMAN	L	2;46;46	ENSP00000297438:P2L;ENSP00000396445:P46L;ENSP00000431029:P46L	ENSP00000297438:P2L	P	+	2	0	OSGIN2	90991061	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.498000	0.73679	2.430000	0.82344	0.462000	0.41574	CCA	.	.		0.313	OSGIN2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000375691.1	NM_004337	
GEM	2669	hgsc.bcm.edu	37	8	95262794	95262794	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr8:95262794A>G	ENST00000297596.2	-	5	899	c.635T>C	c.(634-636)gTg>gCg	p.V212A	GEM_ENST00000396194.2_Missense_Mutation_p.V212A	NM_005261.3	NP_005252.1	P55040	GEM_HUMAN	GTP binding protein overexpressed in skeletal muscle	212					cell surface receptor signaling pathway (GO:0007166)|chromosome organization (GO:0051276)|immune response (GO:0006955)|metaphase plate congression (GO:0051310)|mitotic nuclear division (GO:0007067)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic side of plasma membrane (GO:0009898)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|spindle midzone (GO:0051233)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)			endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(36;4.65e-06)	Myeloproliferative disorder(644;0.204)	BRCA - Breast invasive adenocarcinoma(8;0.00691)			GCAGTCAAACACCACTGCACA	0.562																																					p.V212A	GBM(125;80 1653 28655 32188 47338)|Esophageal Squamous(19;97 579 13602 49091 51766)	Atlas-SNP	.											.	GEM	40	.	0			c.T635C						.						45.0	40.0	42.0					8																	95262794		2203	4300	6503	SO:0001583	missense	2669	exon5			TCAAACACCACTG		CCDS6261.1	8q13-q21	2014-05-09	2001-11-28		ENSG00000164949	ENSG00000164949			4234	protein-coding gene	gene with protein product	"""kinase-inducible Ras-like protein"""	600164	"""GTP-binding protein overexpressed in skeletal muscle"""			7912851, 11956230	Standard	NM_005261		Approved	KIR	uc003ygj.3	P55040	OTTHUMG00000164392	ENST00000297596.2:c.635T>C	chr8.hg19:g.95262794A>G	ENSP00000297596:p.Val212Ala	76.0	0.0		89.0	4.0	NM_181702	B2RA31	Missense_Mutation	SNP	ENST00000297596.2	hg19	CCDS6261.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.195696	0.78902	.	.	ENSG00000164949	ENST00000396194;ENST00000297596	T;T	0.75589	-0.95;-0.95	5.6	5.6	0.85130	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.79633	0.4479	L	0.28504	0.86	0.80722	D	1	D	0.69078	0.997	D	0.77004	0.989	T	0.80810	-0.1216	10	0.51188	T	0.08	.	16.0697	0.80914	1.0:0.0:0.0:0.0	.	212	P55040	GEM_HUMAN	A	212	ENSP00000379497:V212A;ENSP00000297596:V212A	ENSP00000297596:V212A	V	-	2	0	GEM	95331970	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	8.910000	0.92685	2.260000	0.74910	0.528000	0.53228	GTG	.	.		0.562	GEM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378566.1	NM_181702	
RAD54B	25788	hgsc.bcm.edu	37	8	95470643	95470643	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr8:95470643A>G	ENST00000336148.5	-	3	281	c.157T>C	c.(157-159)Ttt>Ctt	p.F53L	RAD54B_ENST00000297592.5_Missense_Mutation_p.F53L	NM_012415.3	NP_036547.1	Q9Y620	RA54B_HUMAN	RAD54 homolog B (S. cerevisiae)	53					ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|double-strand break repair via homologous recombination (GO:0000724)|mitotic recombination (GO:0006312)|reciprocal meiotic recombination (GO:0007131)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|RNA helicase activity (GO:0003724)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			GACGGGAGAAAGGTGTTATTA	0.284								Direct reversal of damage;Homologous recombination																													p.F53L		Atlas-SNP	.											.	RAD54B	88	.	0			c.T157C						.						81.0	78.0	79.0					8																	95470643		2203	4299	6502	SO:0001583	missense	25788	exon3			GGAGAAAGGTGTT	AF112481	CCDS6262.1, CCDS56546.1, CCDS75768.1	8q22.1	2014-08-08			ENSG00000197275	ENSG00000197275			17228	protein-coding gene	gene with protein product		604289				10362364, 10851248	Standard	NM_012415		Approved	RDH54	uc003ygk.3	Q9Y620	OTTHUMG00000133658	ENST00000336148.5:c.157T>C	chr8.hg19:g.95470643A>G	ENSP00000336606:p.Phe53Leu	92.0	0.0		79.0	5.0	NM_001205262	F6WBS8	Missense_Mutation	SNP	ENST00000336148.5	hg19	CCDS6262.1	.	.	.	.	.	.	.	.	.	.	A	0.972	-0.699822	0.03279	.	.	ENSG00000197275	ENST00000336148;ENST00000523839;ENST00000297592	D;T;T	0.87650	-2.28;1.78;1.89	4.42	0.505	0.16953	.	0.222920	0.28166	N	0.016360	T	0.74854	0.3771	L	0.29908	0.895	0.09310	N	1	B;B	0.17667	0.023;0.0	B;B	0.14023	0.01;0.0	T	0.63269	-0.6675	10	0.62326	D	0.03	-0.8218	3.1298	0.06419	0.6171:0.0:0.2053:0.1776	.	53;53	F6WBS8;Q9Y620	.;RA54B_HUMAN	L	53	ENSP00000336606:F53L;ENSP00000428554:F53L;ENSP00000430153:F53L	ENSP00000430153:F53L	F	-	1	0	RAD54B	95539819	0.001000	0.12720	0.001000	0.08648	0.061000	0.15899	0.299000	0.19138	-0.002000	0.14469	0.528000	0.53228	TTT	.	.		0.284	RAD54B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257806.3	NM_012415	
STK3	6788	hgsc.bcm.edu	37	8	99779493	99779493	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr8:99779493A>G	ENST00000419617.2	-	3	354	c.214T>C	c.(214-216)Tcc>Ccc	p.S72P	STK3_ENST00000523601.1_Missense_Mutation_p.S100P	NM_006281.3	NP_006272.2	Q13188	STK3_HUMAN	serine/threonine kinase 3	72	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell differentiation involved in embryonic placenta development (GO:0060706)|central nervous system development (GO:0007417)|endocardium development (GO:0003157)|hepatocyte apoptotic process (GO:0097284)|hippo signaling (GO:0035329)|intracellular signal transduction (GO:0035556)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of organ growth (GO:0046621)|neural tube formation (GO:0001841)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|primitive hemopoiesis (GO:0060215)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein dimerization activity (GO:0046983)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17	Breast(36;2.4e-06)	Breast(495;0.106)	OV - Ovarian serous cystadenocarcinoma(57;0.0382)	KIRC - Kidney renal clear cell carcinoma(542;9.44e-06)		TGCATTATGGAAATTTCTTTG	0.313																																					p.S100P		Atlas-SNP	.											.	STK3	47	.	0			c.T298C						.						101.0	97.0	98.0					8																	99779493		1884	4156	6040	SO:0001583	missense	6788	exon5			TTATGGAAATTTC	BC010640	CCDS47900.1, CCDS59108.1, CCDS75774.1	8q22.2	2011-05-24	2010-06-25		ENSG00000104375	ENSG00000104375			11406	protein-coding gene	gene with protein product		605030	"""serine/threonine kinase 3 (Ste20, yeast homolog)"""			8816758	Standard	NM_006281		Approved	MST2, KRS1	uc003yip.4	Q13188	OTTHUMG00000164651	ENST00000419617.2:c.214T>C	chr8.hg19:g.99779493A>G	ENSP00000390500:p.Ser72Pro	85.0	0.0		84.0	4.0	NM_001256312	A8K722|B3KYA7|Q15445|Q15801|Q96FM6	Missense_Mutation	SNP	ENST00000419617.2	hg19	CCDS47900.1	.	.	.	.	.	.	.	.	.	.	A	24.7	4.564814	0.86439	.	.	ENSG00000104375	ENST00000419617;ENST00000523601;ENST00000518165	T;T;T	0.66815	-0.23;-0.23;-0.23	5.53	5.53	0.82687	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.81192	0.4771	M	0.77486	2.375	0.80722	D	1	D;D;D	0.69078	0.973;0.974;0.997	P;P;D	0.66497	0.661;0.788;0.944	D	0.84018	0.0352	10	0.87932	D	0	.	15.6641	0.77213	1.0:0.0:0.0:0.0	.	72;72;100	E5RFQ9;Q13188;B3KYA7	.;STK3_HUMAN;.	P	72;100;72	ENSP00000390500:S72P;ENSP00000429744:S100P;ENSP00000428014:S72P	ENSP00000390500:S72P	S	-	1	0	STK3	99848669	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.367000	0.79558	2.086000	0.62901	0.459000	0.35465	TCC	.	.		0.313	STK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379635.1	NM_006281	
MTSS1	9788	hgsc.bcm.edu	37	8	125580779	125580779	+	Splice_Site	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr8:125580779T>C	ENST00000518547.1	-	7	934		c.e7-2		MTSS1_ENST00000325064.5_Splice_Site|MTSS1_ENST00000395508.2_5'Flank|MTSS1_ENST00000431961.2_Splice_Site|MTSS1_ENST00000524090.1_Silent_p.A43A|MTSS1_ENST00000354184.4_Splice_Site|MTSS1_ENST00000378017.3_Splice_Site	NM_001282971.1|NM_014751.4	NP_001269900.1|NP_055566.3	O43312	MTSS1_HUMAN	metastasis suppressor 1						actin cytoskeleton organization (GO:0030036)|actin filament polymerization (GO:0030041)|adherens junction maintenance (GO:0034334)|bone mineralization (GO:0030282)|cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|cellular response to fluid shear stress (GO:0071498)|epithelial cell proliferation involved in renal tubule morphogenesis (GO:2001013)|filopodium assembly (GO:0046847)|glomerulus morphogenesis (GO:0072102)|in utero embryonic development (GO:0001701)|magnesium ion homeostasis (GO:0010960)|microspike assembly (GO:0030035)|negative regulation of epithelial cell proliferation (GO:0050680)|nephron tubule epithelial cell differentiation (GO:0072160)|positive regulation of actin filament bundle assembly (GO:0032233)|renal tubule morphogenesis (GO:0061333)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			CACCTCTCCCTGCAAAAAACA	0.488																																					.	Esophageal Squamous(160;622 1893 3862 8546 12509)	Atlas-SNP	.											.	MTSS1	79	.	0			c.461-2A>G						.						54.0	53.0	54.0					8																	125580779		2203	4300	6503	SO:0001630	splice_region_variant	9788	exon8			TCTCCCTGCAAAA	AF086645	CCDS6353.1, CCDS64968.1, CCDS64969.1	8p22	2008-02-05			ENSG00000170873	ENSG00000170873			20443	protein-coding gene	gene with protein product		608486				12482861, 12082544	Standard	XM_005251111		Approved	KIAA0429, MIMA, MIMB, MIM	uc003yrk.2	O43312	OTTHUMG00000048189	ENST00000518547.1:c.461-2A>G	chr8.hg19:g.125580779T>C		89.0	0.0		94.0	6.0	NM_014751	J3KNK6|Q8TCA2|Q96RX2	Splice_Site	SNP	ENST00000518547.1	hg19	CCDS6353.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.17|15.17	2.753676|2.753676	0.49362|0.49362	.|.	.|.	ENSG00000170873|ENSG00000170873	ENST00000378017;ENST00000518547;ENST00000325064;ENST00000522162|ENST00000523179	.|.	.|.	.|.	5.25|5.25	5.25|5.25	0.73442|0.73442	.|.	.|.	.|.	.|.	.|.	.|T	.|0.71533	.|0.3351	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.70920	.|-0.4741	.|4	.|.	.|.	.|.	.|.	15.4446|15.4446	0.75220|0.75220	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|.	.|.	.|.	.|G	-1|1	.|.	.|.	.|R	-|-	.|1	.|2	MTSS1|MTSS1	125649960|125649960	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.670000|0.670000	0.39368|0.39368	7.907000|7.907000	0.87430|0.87430	2.112000|2.112000	0.64535|0.64535	0.533000|0.533000	0.62120|0.62120	.|AGG	.	.		0.488	MTSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109625.3	NM_014751	Intron
TG	7038	hgsc.bcm.edu	37	8	134125745	134125745	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr8:134125745A>G	ENST00000220616.4	+	44	7692	c.7652A>G	c.(7651-7653)gAc>gGc	p.D2551G	TG_ENST00000519543.1_Missense_Mutation_p.D684G|TG_ENST00000377869.1_Missense_Mutation_p.D2494G|TG_ENST00000542445.1_Missense_Mutation_p.D921G	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2551					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GGTGGCGAGGACTCAGATGCC	0.527																																					p.D2551G		Atlas-SNP	.											.	TG	416	.	0			c.A7652G						.						78.0	79.0	79.0					8																	134125745		2203	4300	6503	SO:0001583	missense	7038	exon44			GCGAGGACTCAGA	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.7652A>G	chr8.hg19:g.134125745A>G	ENSP00000220616:p.Asp2551Gly	87.0	0.0		100.0	4.0	NM_003235	O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	hg19	CCDS34944.1	.	.	.	.	.	.	.	.	.	.	A	6.436	0.448570	0.12223	.	.	ENSG00000042832	ENST00000377869;ENST00000543313;ENST00000220616;ENST00000542445;ENST00000519543	T;T;T;T	0.58358	0.34;0.34;0.34;0.34	4.83	-0.671	0.11381	Carboxylesterase, type B (1);	1.535810	0.03799	N	0.264088	T	0.43277	0.1240	L	0.37630	1.12	0.20764	N	0.999858	B;B;B	0.19200	0.019;0.007;0.034	B;B;B	0.19666	0.026;0.009;0.026	T	0.38394	-0.9663	10	0.72032	D	0.01	.	5.8771	0.18834	0.5795:0.274:0.1465:0.0	.	684;921;2551	E7EVM0;F5GWW5;P01266	.;.;THYG_HUMAN	G	2494;1357;2551;921;684	ENSP00000367100:D2494G;ENSP00000220616:D2551G;ENSP00000441693:D921G;ENSP00000430430:D684G	ENSP00000220616:D2551G	D	+	2	0	TG	134194927	0.727000	0.28069	0.026000	0.17262	0.012000	0.07955	1.387000	0.34430	-0.282000	0.09128	0.533000	0.62120	GAC	.	.		0.527	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235	
ZFAT	57623	hgsc.bcm.edu	37	8	135545138	135545138	+	Silent	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr8:135545138A>G	ENST00000377838.3	-	12	3228	c.3054T>C	c.(3052-3054)ccT>ccC	p.P1018P	ZFAT_ENST00000429442.2_Silent_p.P1006P|ZFAT_ENST00000520356.1_Silent_p.P1006P|ZFAT_ENST00000523399.1_Silent_p.P956P|ZFAT_ENST00000520214.1_Silent_p.P1006P|ZFAT_ENST00000520727.1_Silent_p.P1006P|ZFAT_ENST00000517307.1_5'UTR	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	1018					hematopoietic progenitor cell differentiation (GO:0002244)|spongiotrophoblast layer development (GO:0060712)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			ACTCCTCATTAGGGTGCTTCC	0.622																																					p.P1018P		Atlas-SNP	.											.	ZFAT	265	.	0			c.T3054C						.						55.0	56.0	56.0					8																	135545138		2039	4166	6205	SO:0001819	synonymous_variant	57623	exon12			CTCATTAGGGTGC	BC025423	CCDS43768.1, CCDS47924.1, CCDS43768.2, CCDS55275.1, CCDS55276.1	8q24.23	2008-06-05	2008-01-25	2008-01-25	ENSG00000066827	ENSG00000066827		"""Zinc fingers, C2H2-type"""	19899	protein-coding gene	gene with protein product		610931	"""zinc finger protein 406"""	ZNF406, ZFAT1		10819331, 18329245	Standard	NM_020863		Approved	KIAA1485	uc003yup.3	Q9P243	OTTHUMG00000164321	ENST00000377838.3:c.3054T>C	chr8.hg19:g.135545138A>G		80.0	0.0		59.0	4.0	NM_020863	B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Silent	SNP	ENST00000377838.3	hg19	CCDS47924.1																																																																																			.	.		0.622	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378272.1	NM_001029939	
MROH6	642475	hgsc.bcm.edu	37	8	144652226	144652226	+	Silent	SNP	C	C	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr8:144652226C>A	ENST00000398882.3	-	7	1309	c.1053G>T	c.(1051-1053)gtG>gtT	p.V351V	MROH6_ENST00000524906.1_5'Flank|MROH6_ENST00000532704.1_5'Flank|MROH6_ENST00000534459.1_5'Flank|MROH6_ENST00000533679.1_5'Flank	NM_001100878.1	NP_001094348.1	A6NGR9	MROH6_HUMAN	maestro heat-like repeat family member 6	351	Leu-rich.																CGGCATGTGCCACCATAGCAC	0.642																																					p.V351V		Atlas-SNP	.											.	.	.	.	0			c.G1053T						.						32.0	40.0	37.0					8																	144652226		2064	4190	6254	SO:0001819	synonymous_variant	642475	exon7			ATGTGCCACCATA	AF289596	CCDS47928.1	8q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000204839	ENSG00000204839		"""maestro heat-like repeat containing"""	27814	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 73"""	C8orf73		12477932	Standard	NM_001100878		Approved		uc010mff.3	A6NGR9	OTTHUMG00000165164	ENST00000398882.3:c.1053G>T	chr8.hg19:g.144652226C>A		79.0	0.0		82.0	5.0	NM_001100878	A8MWB1	Silent	SNP	ENST00000398882.3	hg19	CCDS47928.1	.	.	.	.	.	.	.	.	.	.	c	14.34	2.507361	0.44558	.	.	ENSG00000204839	ENST00000529971	T	0.36699	1.24	5.23	3.4	0.38934	.	.	.	.	.	T	0.56307	0.1976	.	.	.	0.80722	D	1	D	0.71674	0.998	D	0.71870	0.975	T	0.57051	-0.7877	8	0.87932	D	0	-49.1988	9.0153	0.36166	0.0:0.7683:0.1483:0.0834	.	364	E9PPP7	.	C	364	ENSP00000436959:G364C	ENSP00000436959:G364C	G	-	1	0	C8orf73	144723369	0.979000	0.34478	0.995000	0.50966	0.825000	0.46686	0.034000	0.13776	0.570000	0.29347	-0.247000	0.11927	GGC	.	.		0.642	MROH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382330.3	NM_001100878	
ZNF707	286075	hgsc.bcm.edu	37	8	144773301	144773301	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr8:144773301T>C	ENST00000532205.1	+	6	973	c.74T>C	c.(73-75)cTg>cCg	p.L25P	ZNF707_ENST00000454097.1_Missense_Mutation_p.L25P|ZNF707_ENST00000442058.2_Missense_Mutation_p.L25P|ZNF707_ENST00000358656.4_Missense_Mutation_p.L25P|ZNF707_ENST00000532158.1_Missense_Mutation_p.L25P|ZNF707_ENST00000418203.2_Missense_Mutation_p.L25P			Q96C28	ZN707_HUMAN	zinc finger protein 707	25	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)	1	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;5.6e-41)|Epithelial(56;1.02e-39)|all cancers(56;9.65e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			TGGGCGTGTCTGGAACCCAGC	0.607																																					p.L25P		Atlas-SNP	.											.	ZNF707	21	.	0			c.T74C						.						57.0	65.0	62.0					8																	144773301		2203	4300	6503	SO:0001583	missense	286075	exon4			CGTGTCTGGAACC	AK001126	CCDS47932.1	8q24.3	2013-01-08				ENSG00000181135		"""Zinc fingers, C2H2-type"", ""-"""	27815	protein-coding gene	gene with protein product						12477932	Standard	NM_173831		Approved		uc010mfi.3	Q96C28		ENST00000532205.1:c.74T>C	chr8.hg19:g.144773301T>C	ENSP00000436212:p.Leu25Pro	160.0	0.0		143.0	7.0	NM_001100598	A8K317|B3KNY1|D3DWK7	Missense_Mutation	SNP	ENST00000532205.1	hg19	CCDS47932.1	.	.	.	.	.	.	.	.	.	.	T	9.745	1.165852	0.21538	.	.	ENSG00000181135	ENST00000454097;ENST00000534303;ENST00000529833;ENST00000530574;ENST00000358656;ENST00000526970;ENST00000532158;ENST00000532205;ENST00000418203	T;T;T;T;T;T;T;T;T	0.19250	2.16;2.16;2.16;2.16;2.16;2.16;2.16;2.16;2.16	2.46	1.25	0.21368	Krueppel-associated box (4);	.	.	.	.	T	0.51007	0.1649	H	0.94964	3.605	0.19300	N	0.999974	D	0.76494	0.999	D	0.74674	0.984	T	0.35574	-0.9783	9	0.87932	D	0	-22.3826	5.6653	0.17693	0.0:0.1493:0.0:0.8507	.	25	Q96C28	ZN707_HUMAN	P	25	ENSP00000409029:L25P;ENSP00000437134:L25P;ENSP00000434503:L25P;ENSP00000436362:L25P;ENSP00000351482:L25P;ENSP00000436634:L25P;ENSP00000436250:L25P;ENSP00000436212:L25P;ENSP00000413215:L25P	ENSP00000351482:L25P	L	+	2	0	ZNF707	144845289	0.000000	0.05858	0.006000	0.13384	0.182000	0.23217	0.613000	0.24299	0.178000	0.19917	0.460000	0.39030	CTG	.	.		0.607	ZNF707-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382197.1	NM_173831	
PLEC	5339	hgsc.bcm.edu	37	8	144991777	144991777	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr8:144991777A>G	ENST00000322810.4	-	32	12792	c.12623T>C	c.(12622-12624)cTc>cCc	p.L4208P	PLEC_ENST00000354589.3_Missense_Mutation_p.L4071P|PLEC_ENST00000357649.2_Missense_Mutation_p.L4075P|PLEC_ENST00000356346.3_Missense_Mutation_p.L4057P|PLEC_ENST00000436759.2_Missense_Mutation_p.L4098P|PLEC_ENST00000354958.2_Missense_Mutation_p.L4049P|PLEC_ENST00000345136.3_Missense_Mutation_p.L4071P|PLEC_ENST00000527096.1_Missense_Mutation_p.L4094P|PLEC_ENST00000398774.2_Missense_Mutation_p.L4039P	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4208	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CTCATCGAAGAGGCCGCGCTT	0.637																																					p.L4208P		Atlas-SNP	.											.	PLEC	1144	.	0			c.T12623C						.						52.0	56.0	55.0					8																	144991777		2048	4197	6245	SO:0001583	missense	5339	exon32			TCGAAGAGGCCGC	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.12623T>C	chr8.hg19:g.144991777A>G	ENSP00000323856:p.Leu4208Pro	127.0	0.0		144.0	6.0	NM_201380	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	hg19	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	A	8.976	0.974112	0.18736	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	D;D;D;D;D;D;D;D;D	0.82433	-1.61;-1.61;-1.61;-1.61;-1.61;-1.61;-1.61;-1.61;-1.61	5.14	3.97	0.46021	.	0.101407	0.39475	U	0.001347	D	0.90693	0.7080	M	0.84773	2.715	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.76071	0.964;0.977;0.977;0.987;0.977;0.977;0.977;0.977	D	0.90929	0.4789	10	0.72032	D	0.01	.	11.1141	0.48249	0.8614:0.0:0.0:0.1386	.	4098;4057;4049;4208;4039;4071;4075;4071	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	P	4071;4075;4071;4039;4208;4049;4057;4098;4094	ENSP00000344848:L4071P;ENSP00000350277:L4075P;ENSP00000346602:L4071P;ENSP00000381756:L4039P;ENSP00000323856:L4208P;ENSP00000347044:L4049P;ENSP00000348702:L4057P;ENSP00000388180:L4098P;ENSP00000434583:L4094P	ENSP00000323856:L4208P	L	-	2	0	PLEC	145063765	1.000000	0.71417	0.993000	0.49108	0.687000	0.40016	7.240000	0.78192	0.949000	0.37715	0.448000	0.29417	CTC	.	.		0.637	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445	
GPT	2875	hgsc.bcm.edu	37	8	145731975	145731975	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr8:145731975T>C	ENST00000528431.1	+	10	1380	c.1223T>C	c.(1222-1224)gTg>gCg	p.V408A	MFSD3_ENST00000301327.4_5'Flank|GPT_ENST00000394955.2_Missense_Mutation_p.V408A			P24298	ALAT1_HUMAN	glutamic-pyruvate transaminase (alanine aminotransferase)	408					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-alanine catabolic process (GO:0042853)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	L-alanine:2-oxoglutarate aminotransferase activity (GO:0004021)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(1)|lung(2)|ovary(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)		L-Alanine(DB00160)|Phenelzine(DB00780)	TGCAACCCAGTGCAGGGCGCC	0.716																																					p.V408A		Atlas-SNP	.											.	GPT	31	.	0			c.T1223C						.						15.0	10.0	11.0					8																	145731975		2138	4212	6350	SO:0001583	missense	2875	exon9			ACCCAGTGCAGGG		CCDS6430.1	8q24.3	2013-09-19			ENSG00000167701	ENSG00000167701	2.6.1.2		4552	protein-coding gene	gene with protein product		138200					Standard	NM_005309		Approved	ALT1, GPT1	uc003zdh.4	P24298	OTTHUMG00000165176	ENST00000528431.1:c.1223T>C	chr8.hg19:g.145731975T>C	ENSP00000433586:p.Val408Ala	72.0	0.0		89.0	4.0	NM_005309	B0YJ18|D3DWM7|P78398|Q93076	Missense_Mutation	SNP	ENST00000528431.1	hg19	CCDS6430.1	.	.	.	.	.	.	.	.	.	.	T	19.12	3.764966	0.69878	.	.	ENSG00000167701	ENST00000528431;ENST00000394955	T;T	0.21031	2.03;2.03	4.54	4.54	0.55810	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	T	0.20740	0.0499	L	0.46614	1.455	0.80722	D	1	B	0.33919	0.432	B	0.37888	0.26	T	0.03818	-1.1001	10	0.21014	T	0.42	-34.0993	11.8278	0.52278	0.0:0.0:0.0:1.0	.	408	P24298	ALAT1_HUMAN	A	408	ENSP00000433586:V408A;ENSP00000378408:V408A	ENSP00000378408:V408A	V	+	2	0	GPT	145702783	1.000000	0.71417	0.998000	0.56505	0.971000	0.66376	3.230000	0.51286	1.662000	0.50781	0.459000	0.35465	GTG	.	.		0.716	GPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382471.1		
COMMD5	28991	hgsc.bcm.edu	37	8	146076649	146076649	+	Missense_Mutation	SNP	C	C	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr8:146076649C>A	ENST00000305103.3	-	2	327	c.75G>T	c.(73-75)ttG>ttT	p.L25F	AF235103.1_ENST00000578937.1_RNA|COMMD5_ENST00000450361.2_Missense_Mutation_p.L25F|ZNF250_ENST00000543949.1_3'UTR|COMMD5_ENST00000402718.3_Missense_Mutation_p.L25F	NM_014066.3	NP_054785.2	Q9GZQ3	COMD5_HUMAN	COMM domain containing 5	25						nucleus (GO:0005634)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|ovary(1)|pancreas(1)	11	all_cancers(97;1.14e-11)|all_epithelial(106;7.74e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)			GCTGGGCCCCCAAGAAACTCA	0.567																																					p.L25F		Atlas-SNP	.											.	COMMD5	18	.	0			c.G75T						.						72.0	77.0	75.0					8																	146076649		2203	4300	6503	SO:0001583	missense	28991	exon2			GGCCCCCAAGAAA	AK023070	CCDS6436.1	8q24.3	2006-11-06				ENSG00000170619			17902	protein-coding gene	gene with protein product		608216				15799966, 10918053	Standard	NM_014066		Approved	HT002, FLJ13008, HCaRG	uc003zem.3	Q9GZQ3		ENST00000305103.3:c.75G>T	chr8.hg19:g.146076649C>A	ENSP00000304544:p.Leu25Phe	91.0	0.0		69.0	11.0	NM_001081004	D3DWN7|Q9NVN6|Q9UHX5	Missense_Mutation	SNP	ENST00000305103.3	hg19	CCDS6436.1	.	.	.	.	.	.	.	.	.	.	C	14.90	2.672767	0.47781	.	.	ENSG00000170619	ENST00000402718;ENST00000450361;ENST00000305103;ENST00000529143;ENST00000533270	T;T;T;T;T	0.35789	1.3;1.3;1.3;1.29;1.29	4.75	1.76	0.24704	.	0.084765	0.48286	D	0.000196	T	0.33469	0.0864	L	0.54323	1.7	0.80722	D	1	D	0.57571	0.98	P	0.48952	0.596	T	0.08186	-1.0734	10	0.36615	T	0.2	-19.6494	3.7906	0.08718	0.1693:0.5697:0.1647:0.0963	.	25	Q9GZQ3	COMD5_HUMAN	F	25	ENSP00000385793:L25F;ENSP00000394331:L25F;ENSP00000304544:L25F;ENSP00000435552:L25F;ENSP00000433758:L25F	ENSP00000304544:L25F	L	-	3	2	COMMD5	146047453	0.987000	0.35691	0.958000	0.39756	0.896000	0.52359	0.193000	0.17116	0.492000	0.27815	0.557000	0.71058	TTG	.	.		0.567	COMMD5-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000382962.1	NM_014066	
GLIS3	169792	hgsc.bcm.edu	37	9	4118024	4118024	+	Missense_Mutation	SNP	G	G	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr9:4118024G>A	ENST00000324333.10	-	3	1182	c.989C>T	c.(988-990)gCc>gTc	p.A330V	GLIS3_ENST00000381971.3_Missense_Mutation_p.A485V	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	330					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		GTCCAGGGTGGCCTGGGGCAA	0.716																																					p.A485V		Atlas-SNP	.											.	GLIS3	152	.	0			c.C1454T						.						31.0	33.0	33.0					9																	4118024		2203	4299	6502	SO:0001583	missense	169792	exon4			AGGGTGGCCTGGG	BC033899	CCDS6451.1, CCDS43784.1	9p24.2	2008-05-02	2004-07-16	2004-07-16	ENSG00000107249	ENSG00000107249		"""Zinc fingers, C2H2-type"""	28510	protein-coding gene	gene with protein product		610192	"""zinc finger protein 515"""	ZNF515		14500813	Standard	NM_152629		Approved	MGC33662	uc003zhx.1	Q8NEA6	OTTHUMG00000019463	ENST00000324333.10:c.989C>T	chr9.hg19:g.4118024G>A	ENSP00000325494:p.Ala330Val	46.0	0.0		31.0	4.0	NM_001042413	B1AL19|Q1PHK5	Missense_Mutation	SNP	ENST00000324333.10	hg19	CCDS6451.1	.	.	.	.	.	.	.	.	.	.	G	10.27	1.305082	0.23736	.	.	ENSG00000107249	ENST00000324333;ENST00000381971	T;T	0.11604	2.78;2.76	5.52	4.63	0.57726	.	0.475283	0.16375	N	0.217180	T	0.08044	0.0201	N	0.24115	0.695	0.30846	N	0.735145	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.001	T	0.14309	-1.0477	10	0.16420	T	0.52	.	12.9123	0.58187	0.0753:0.0:0.9247:0.0	.	485;330	Q8NEA6-2;Q8NEA6	.;GLIS3_HUMAN	V	330;485	ENSP00000325494:A330V;ENSP00000371398:A485V	ENSP00000325494:A330V	A	-	2	0	GLIS3	4108024	0.010000	0.17322	0.342000	0.25602	0.026000	0.11368	1.423000	0.34837	1.334000	0.45468	-0.119000	0.15052	GCC	.	.		0.716	GLIS3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051559.1	NM_152629	
KIAA2026	158358	hgsc.bcm.edu	37	9	5921962	5921962	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr9:5921962A>G	ENST00000399933.3	-	8	4033	c.4034T>C	c.(4033-4035)cTt>cCt	p.L1345P	KIAA2026_ENST00000381461.2_Missense_Mutation_p.L1315P	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	1345	Ser-rich.									breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		AAAAGGTGAAAGACTAGATGT	0.448																																					p.L1345P		Atlas-SNP	.											.	KIAA2026	231	.	0			c.T4034C						.						212.0	204.0	207.0					9																	5921962		1886	4125	6011	SO:0001583	missense	158358	exon8			GGTGAAAGACTAG	AB095946		9p24.1	2014-01-10			ENSG00000183354	ENSG00000183354			23378	protein-coding gene	gene with protein product							Standard	NM_001017969		Approved	FLJ20375	uc003zjq.4	Q5HYC2	OTTHUMG00000019507	ENST00000399933.3:c.4034T>C	chr9.hg19:g.5921962A>G	ENSP00000382815:p.Leu1345Pro	116.0	0.0		92.0	4.0	NM_001017969	A8MTP2|B9EGW7|Q4VXA2|Q8IVE5	Missense_Mutation	SNP	ENST00000399933.3	hg19		.	.	.	.	.	.	.	.	.	.	A	3.743	-0.053154	0.07362	.	.	ENSG00000183354	ENST00000399933;ENST00000381461	.	.	.	4.38	4.38	0.52667	.	0.520133	0.15422	N	0.263164	T	0.57770	0.2076	L	0.29908	0.895	0.50632	D	0.999883	P	0.51537	0.946	P	0.53809	0.735	T	0.56607	-0.7951	9	0.41790	T	0.15	-0.0406	13.7435	0.62862	1.0:0.0:0.0:0.0	.	1345	Q5HYC2	K2026_HUMAN	P	1345;1315	.	ENSP00000370870:L1315P	L	-	2	0	KIAA2026	5911962	1.000000	0.71417	0.951000	0.38953	0.190000	0.23558	3.522000	0.53480	1.841000	0.53522	0.454000	0.30748	CTT	.	.		0.448	KIAA2026-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051652.2	NM_001017969	
CCDC171	203238	hgsc.bcm.edu	37	9	15784674	15784674	+	Silent	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr9:15784674T>C	ENST00000380701.3	+	21	3577	c.3249T>C	c.(3247-3249)acT>acC	p.T1083T	CCDC171_ENST00000297641.3_Silent_p.T1083T	NM_173550.2	NP_775821.2	Q6TFL3	CC171_HUMAN	coiled-coil domain containing 171	1083																	AAAACCAAACTCTTGGAGAAG	0.363																																					p.T1083T		Atlas-SNP	.											.	.	.	.	0			c.T3249C						.						69.0	64.0	66.0					9																	15784674		2203	4300	6503	SO:0001819	synonymous_variant	203238	exon21			CCAAACTCTTGGA	AY422473	CCDS6481.1	9p22.2	2012-03-26	2012-03-26	2012-03-26	ENSG00000164989	ENSG00000164989			29828	protein-coding gene	gene with protein product	"""myosin tail domain containing protein"""		"""chromosome 9 open reading frame 93"""	C9orf93		14702039	Standard	NM_173550		Approved	FLJ39267, FLJ46740, Em:AL513423.1, bA778P13.1, bA536D16.1	uc003zmd.3	Q6TFL3	OTTHUMG00000019584	ENST00000380701.3:c.3249T>C	chr9.hg19:g.15784674T>C		149.0	0.0		82.0	4.0	NM_173550	B7ZM22|Q5SU58|Q6P1W1|Q6ZR13|Q8N1Z4|Q8N8L3|Q8TBR2	Silent	SNP	ENST00000380701.3	hg19	CCDS6481.1	.	.	.	.	.	.	.	.	.	.	T	8.209	0.799914	0.16397	.	.	ENSG00000164989	ENST00000449575;ENST00000432954	.	.	.	5.04	1.31	0.21738	.	.	.	.	.	T	0.44519	0.1297	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.31696	-0.9934	4	.	.	.	-11.0199	3.1827	0.06590	0.1791:0.2726:0.0:0.5484	.	.	.	.	P	323;137	.	.	L	+	2	0	C9orf93	15774674	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.814000	0.38972	0.875000	0.35847	0.533000	0.62120	CTC	.	.		0.363	CCDC171-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051768.4	NM_173550	
ADAMTSL1	92949	hgsc.bcm.edu	37	9	18622358	18622358	+	Missense_Mutation	SNP	G	G	A	rs200455820		TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr9:18622358G>A	ENST00000380548.4	+	5	931	c.592G>A	c.(592-594)Gca>Aca	p.A198T	ADAMTSL1_ENST00000380570.4_Missense_Mutation_p.A198T|ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.A198T|ADAMTSL1_ENST00000327883.7_Missense_Mutation_p.A198T|ADAMTSL1_ENST00000380566.4_Missense_Mutation_p.A198T	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	198						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CCAGCTCTCCGCAACCAAATG	0.552																																					p.A198T		Atlas-SNP	.											.	ADAMTSL1	306	.	0			c.G592A						.	G	THR/ALA,THR/ALA	0,4406		0,0,2203	66.0	66.0	66.0		592,592	4.6	0.9	9		66	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	ADAMTSL1	NM_001040272.5,NM_052866.4	58,58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	198/1763,198/526	18622358	1,13005	2203	4300	6503	SO:0001583	missense	92949	exon5			CTCTCCGCAACCA	AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"""Immunoglobulin superfamily / I-set domain containing"""	14632	protein-coding gene	gene with protein product	"""punctin"""	609198	"""chromosome 9 open reading frame 94"""	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.592G>A	chr9.hg19:g.18622358G>A	ENSP00000369921:p.Ala198Thr	154.0	0.0		100.0	4.0	NM_052866	A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Missense_Mutation	SNP	ENST00000380548.4	hg19	CCDS47954.1	.	.	.	.	.	.	.	.	.	.	G	18.17	3.563446	0.65651	0.0	1.16E-4	ENSG00000178031	ENST00000380548;ENST00000327883;ENST00000380570;ENST00000380566;ENST00000276935	T;T;T;T;T	0.66280	-0.02;0.73;-0.2;0.73;0.73	5.46	4.57	0.56435	.	.	.	.	.	T	0.46171	0.1379	N	0.22421	0.69	0.80722	D	1	B;P	0.42296	0.008;0.775	B;B	0.33890	0.001;0.172	T	0.53899	-0.8373	9	0.66056	D	0.02	.	14.8736	0.70478	0.0698:0.0:0.9302:0.0	.	198;198	Q8N6G6;Q8N6G6-2	ATL1_HUMAN;.	T	198	ENSP00000369921:A198T;ENSP00000327887:A198T;ENSP00000369944:A198T;ENSP00000369940:A198T;ENSP00000276935:A198T	ENSP00000276935:A198T	A	+	1	0	ADAMTSL1	18612358	0.990000	0.36364	0.949000	0.38748	0.998000	0.95712	2.088000	0.41663	1.446000	0.47643	0.655000	0.94253	GCA	.	.		0.552	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1		
ADAMTSL1	92949	hgsc.bcm.edu	37	9	18681884	18681884	+	Silent	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr9:18681884A>G	ENST00000380548.4	+	12	1755	c.1416A>G	c.(1414-1416)ggA>ggG	p.G472G	ADAMTSL1_ENST00000276935.6_Silent_p.G472G|ADAMTSL1_ENST00000327883.7_Silent_p.G472G	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	472	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		TGCACACAGGAGGCTGTAGCC	0.507																																					p.G472G		Atlas-SNP	.											.	ADAMTSL1	306	.	0			c.A1416G						.						242.0	220.0	228.0					9																	18681884		2203	4300	6503	SO:0001819	synonymous_variant	92949	exon12			CACAGGAGGCTGT	AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"""Immunoglobulin superfamily / I-set domain containing"""	14632	protein-coding gene	gene with protein product	"""punctin"""	609198	"""chromosome 9 open reading frame 94"""	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.1416A>G	chr9.hg19:g.18681884A>G		192.0	0.0		86.0	4.0	NM_052866	A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Silent	SNP	ENST00000380548.4	hg19	CCDS47954.1																																																																																			.	.		0.507	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1		
ACO1	48	hgsc.bcm.edu	37	9	32419134	32419134	+	Missense_Mutation	SNP	C	C	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr9:32419134C>A	ENST00000309951.6	+	7	895	c.757C>A	c.(757-759)Cct>Act	p.P253T	ACO1_ENST00000541043.1_Missense_Mutation_p.P154T|ACO1_ENST00000379923.1_Missense_Mutation_p.P253T	NM_002197.2	NP_002188.1	P21399	ACOC_HUMAN	aconitase 1, soluble	253					cellular iron ion homeostasis (GO:0006879)|citrate metabolic process (GO:0006101)|intestinal absorption (GO:0050892)|post-embryonic development (GO:0009791)|regulation of translation (GO:0006417)|response to iron(II) ion (GO:0010040)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|aconitate hydratase activity (GO:0003994)|iron-responsive element binding (GO:0030350)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)			breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		GAAGCCCCACCCTCTGGTAAC	0.507																																					p.P253T		Atlas-SNP	.											.	ACO1	149	.	0			c.C757A						.						177.0	133.0	148.0					9																	32419134		2203	4300	6503	SO:0001583	missense	48	exon7			CCCCACCCTCTGG	M58510	CCDS6525.1	9p21.1	2013-05-21			ENSG00000122729	ENSG00000122729	4.2.1.3		117	protein-coding gene	gene with protein product	"""aconitate hydratase, cytoplasmic"""	100880		IREB1		2172968, 2771641	Standard	NM_002197		Approved	IRP1, IREBP	uc003zqw.4	P21399	OTTHUMG00000019740	ENST00000309951.6:c.757C>A	chr9.hg19:g.32419134C>A	ENSP00000309477:p.Pro253Thr	157.0	0.0		95.0	4.0	NM_002197	D3DRK7|Q14652|Q5VZA7	Missense_Mutation	SNP	ENST00000309951.6	hg19	CCDS6525.1	.	.	.	.	.	.	.	.	.	.	C	13.98	2.399374	0.42512	.	.	ENSG00000122729	ENST00000432017;ENST00000309951;ENST00000379923;ENST00000379921;ENST00000541043	T;T;T	0.19394	2.15;2.15;2.15	5.64	4.73	0.59995	Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha (2);Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha, subdomain 2 (1);	0.269447	0.43579	D	0.000546	T	0.34337	0.0894	M	0.84846	2.72	0.51482	D	0.999921	B;B	0.31968	0.349;0.003	B;B	0.35278	0.199;0.024	T	0.28106	-1.0054	10	0.56958	D	0.05	-10.339	15.4486	0.75253	0.0:0.8602:0.1397:0.0	.	289;253	Q59FI0;P21399	.;ACOC_HUMAN	T	289;253;253;253;154	ENSP00000309477:P253T;ENSP00000369255:P253T;ENSP00000438733:P154T	ENSP00000309477:P253T	P	+	1	0	ACO1	32409134	0.872000	0.30054	0.997000	0.53966	0.970000	0.65996	2.093000	0.41710	1.344000	0.45657	0.563000	0.77884	CCT	.	.		0.507	ACO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051998.3	NM_002197	
TOPORS	10210	hgsc.bcm.edu	37	9	32541494	32541494	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr9:32541494T>C	ENST00000360538.2	-	3	3145	c.3029A>G	c.(3028-3030)aAc>aGc	p.N1010S	TOPORS_ENST00000379858.1_Missense_Mutation_p.N945S	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	1010					cellular response to DNA damage stimulus (GO:0006974)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of apoptotic process (GO:0043066)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein localization to nucleus (GO:0034504)|protein monoubiquitination (GO:0006513)|protein sumoylation (GO:0016925)|regulation of cell proliferation (GO:0042127)|retina layer formation (GO:0010842)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|gamma-tubulin complex (GO:0000930)|midbody (GO:0030496)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|PML body (GO:0016605)|spindle pole (GO:0000922)|ubiquitin ligase complex (GO:0000151)	antigen binding (GO:0003823)|DNA binding (GO:0003677)|DNA topoisomerase binding (GO:0044547)|SUMO ligase activity (GO:0019789)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		ACTGGGCTGGTTCTCCAAATC	0.428																																					p.N1010S		Atlas-SNP	.											.	TOPORS	127	.	0			c.A3029G						.						131.0	128.0	129.0					9																	32541494		2203	4300	6503	SO:0001583	missense	10210	exon3			GGCTGGTTCTCCA	AF098300	CCDS6527.1, CCDS56566.1	9p21	2013-01-09	2010-09-17		ENSG00000197579	ENSG00000197579		"""RING-type (C3HC4) zinc fingers"""	21653	protein-coding gene	gene with protein product		609507	"""retinitis pigmentosa 31 (autosomal dominant)"", ""topoisomerase I binding, arginine/serine-rich"""	RP31		10352183, 12083797, 17924349	Standard	NM_005802		Approved	TP53BPL, LUN	uc003zrb.3	Q9NS56	OTTHUMG00000019743	ENST00000360538.2:c.3029A>G	chr9.hg19:g.32541494T>C	ENSP00000353735:p.Asn1010Ser	173.0	0.0		120.0	5.0	NM_005802	O43273|Q6P987|Q9NS55|Q9UNR9	Missense_Mutation	SNP	ENST00000360538.2	hg19	CCDS6527.1	.	.	.	.	.	.	.	.	.	.	T	7.046	0.563567	0.13498	.	.	ENSG00000197579	ENST00000360538;ENST00000379858	T;T	0.15256	2.44;2.45	5.61	1.93	0.25924	.	0.120219	0.38005	N	0.001847	T	0.06142	0.0159	N	0.03608	-0.345	0.22378	N	0.999153	B	0.06786	0.001	B	0.06405	0.002	T	0.36163	-0.9759	10	0.25751	T	0.34	-3.8034	6.1834	0.20484	0.0:0.1491:0.1356:0.7152	.	1010	Q9NS56	TOPRS_HUMAN	S	1010;945	ENSP00000353735:N1010S;ENSP00000369187:N945S	ENSP00000353735:N1010S	N	-	2	0	TOPORS	32531494	0.998000	0.40836	0.995000	0.50966	0.286000	0.27126	0.285000	0.18883	0.139000	0.18822	0.528000	0.53228	AAC	.	.		0.428	TOPORS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052007.1	NM_005802	
IL11RA	3590	hgsc.bcm.edu	37	9	34659771	34659771	+	Silent	SNP	C	C	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr9:34659771C>T	ENST00000555003.1	+	9	2182	c.826C>T	c.(826-828)Ctg>Ttg	p.L276L	IL11RA_ENST00000378817.4_Silent_p.L276L|IL11RA_ENST00000602473.1_Silent_p.L276L|IL11RA_ENST00000441545.2_Silent_p.L276L|IL11RA_ENST00000318041.9_Silent_p.L276L|CCL27_ENST00000557161.1_5'Flank|RP11-195F19.30_ENST00000564224.1_RNA			Q14626	I11RA_HUMAN	interleukin 11 receptor, alpha	276	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				developmental process (GO:0032502)|embryo implantation (GO:0007566)|head development (GO:0060322)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)|signal transducer activity (GO:0004871)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|large_intestine(1)|ovary(1)|skin(1)	4	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.174)	Oprelvekin(DB00038)	GCCAGCTGGACTGGAGGAGGT	0.597																																					p.L276L		Atlas-SNP	.											.	IL11RA	34	.	0			c.C826T						.						100.0	103.0	102.0					9																	34659771		2203	4300	6503	SO:0001819	synonymous_variant	3590	exon9			GCTGGACTGGAGG	Z38102	CCDS6567.1	9p13	2014-05-22			ENSG00000137070	ENSG00000137070		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5967	protein-coding gene	gene with protein product		600939				7670098	Standard	NM_001142784		Approved		uc011loq.3	Q14626	OTTHUMG00000019837	ENST00000555003.1:c.826C>T	chr9.hg19:g.34659771C>T		134.0	0.0		77.0	4.0	NM_001142784	Q16542|Q5VZ80|Q7KYJ7	Silent	SNP	ENST00000555003.1	hg19	CCDS6567.1																																																																																			.	.		0.597	IL11RA-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410625.1	NM_001142784	
IL11RA	3590	hgsc.bcm.edu	37	9	34659894	34659894	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr9:34659894A>G	ENST00000555003.1	+	9	2305	c.949A>G	c.(949-951)Act>Gct	p.T317A	IL11RA_ENST00000378817.4_Missense_Mutation_p.T317A|IL11RA_ENST00000602473.1_Missense_Mutation_p.T317A|IL11RA_ENST00000441545.2_Missense_Mutation_p.T317A|IL11RA_ENST00000318041.9_Missense_Mutation_p.T317A|CCL27_ENST00000557161.1_5'Flank|RP11-195F19.30_ENST00000564224.1_RNA			Q14626	I11RA_HUMAN	interleukin 11 receptor, alpha	317	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				developmental process (GO:0032502)|embryo implantation (GO:0007566)|head development (GO:0060322)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)|signal transducer activity (GO:0004871)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|large_intestine(1)|ovary(1)|skin(1)	4	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.174)	Oprelvekin(DB00038)	AACTCCGAGCACTGGTGAGAG	0.597																																					p.T317A		Atlas-SNP	.											.	IL11RA	34	.	0			c.A949G						.						36.0	39.0	38.0					9																	34659894		2203	4300	6503	SO:0001583	missense	3590	exon9			CCGAGCACTGGTG	Z38102	CCDS6567.1	9p13	2014-05-22			ENSG00000137070	ENSG00000137070		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5967	protein-coding gene	gene with protein product		600939				7670098	Standard	NM_001142784		Approved		uc011loq.3	Q14626	OTTHUMG00000019837	ENST00000555003.1:c.949A>G	chr9.hg19:g.34659894A>G	ENSP00000450565:p.Thr317Ala	94.0	0.0		51.0	4.0	NM_001142784	Q16542|Q5VZ80|Q7KYJ7	Missense_Mutation	SNP	ENST00000555003.1	hg19	CCDS6567.1	.	.	.	.	.	.	.	.	.	.	A	16.97	3.270007	0.59540	.	.	ENSG00000137070	ENST00000555003;ENST00000441545;ENST00000378817;ENST00000318041	T;T;T;T	0.36699	1.4;1.4;1.24;1.4	5.48	1.76	0.24704	.	1.313380	0.05346	N	0.530974	T	0.35595	0.0937	M	0.61703	1.905	0.47374	D	0.999403	B;B	0.14438	0.01;0.01	B;B	0.13407	0.009;0.009	T	0.11036	-1.0604	10	0.23891	T	0.37	-2.1011	7.1989	0.25868	0.5887:0.3248:0.0865:0.0	.	317;317	Q5VZ79;Q14626	.;I11RA_HUMAN	A	317	ENSP00000450565:T317A;ENSP00000394391:T317A;ENSP00000368094:T317A;ENSP00000326500:T317A	ENSP00000326500:T317A	T	+	1	0	IL11RA	34649894	0.035000	0.19736	0.858000	0.33744	0.988000	0.76386	0.791000	0.26915	0.330000	0.23485	0.460000	0.39030	ACT	.	.		0.597	IL11RA-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410625.1	NM_001142784	
RECK	8434	hgsc.bcm.edu	37	9	36063817	36063817	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr9:36063817G>A	ENST00000377966.3	+	5	863	c.297G>A	c.(295-297)tgG>tgA	p.W99*	RECK_ENST00000479053.1_3'UTR	NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs	99	5 X Knot repeats.				blood vessel maturation (GO:0001955)|embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)	anchored component of membrane (GO:0031225)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			CTGATGGCTGGGTTGGCTTAG	0.438																																					p.W99X		Atlas-SNP	.											.	RECK	73	.	0			c.G297A						.						129.0	112.0	118.0					9																	36063817		2203	4300	6503	SO:0001587	stop_gained	8434	exon5			TGGCTGGGTTGGC	E13833	CCDS6597.1	9p13.3	2008-05-15			ENSG00000122707	ENSG00000122707			11345	protein-coding gene	gene with protein product		605227		ST15		9789069	Standard	NM_021111		Approved	hRECK	uc003zyv.3	O95980	OTTHUMG00000019898	ENST00000377966.3:c.297G>A	chr9.hg19:g.36063817G>A	ENSP00000367202:p.Trp99*	159.0	0.0		85.0	4.0	NM_021111	B2RNS1|Q5W0K6|Q8WX37	Nonsense_Mutation	SNP	ENST00000377966.3	hg19	CCDS6597.1	.	.	.	.	.	.	.	.	.	.	G	41	9.154406	0.99084	.	.	ENSG00000122707	ENST00000377966	.	.	.	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.7557	17.4988	0.87726	0.0:0.0:1.0:0.0	.	.	.	.	X	99	.	ENSP00000367202:W99X	W	+	3	0	RECK	36053817	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.291000	0.78721	2.726000	0.93360	0.563000	0.77884	TGG	.	.		0.438	RECK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052409.1		
DCAF10	79269	hgsc.bcm.edu	37	9	37860046	37860046	+	Splice_Site	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr9:37860046A>G	ENST00000377724.3	+	6	1532	c.1167A>G	c.(1165-1167)ggA>ggG	p.G389G	DCAF10_ENST00000242323.7_Splice_Site_p.G352G|DCAF10_ENST00000483167.1_3'UTR|RP11-613M10.9_ENST00000540557.1_Intron	NM_024345.3	NP_077321.3	Q5QP82	DCA10_HUMAN	DDB1 and CUL4 associated factor 10	389					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	12						ATATCTCAGGAGTTTCACCAC	0.443																																					p.G389G		Atlas-SNP	.											.	DCAF10	31	.	0			c.A1167G						.						99.0	90.0	93.0					9																	37860046		2203	4300	6503	SO:0001630	splice_region_variant	79269	exon6			CTCAGGAGTTTCA	BC003520	CCDS6613.2, CCDS75835.1	9p13.2	2013-01-09	2009-07-17	2009-07-17	ENSG00000122741	ENSG00000122741		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	23686	protein-coding gene	gene with protein product			"""WD repeat domain 32"""	WDR32			Standard	NM_001286810		Approved	MGC10765, FLJ23201	uc004aao.3	Q5QP82	OTTHUMG00000019934	ENST00000377724.3:c.1166-1A>G	chr9.hg19:g.37860046A>G		197.0	0.0		119.0	5.0	NM_024345	A4VCJ5|Q32NE2|Q8N2Q5|Q96ET5|Q9BTQ5|Q9H5P6	Silent	SNP	ENST00000377724.3	hg19	CCDS6613.2																																																																																			.	.		0.443	DCAF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052485.2	NM_024345	Silent
TRPM3	80036	hgsc.bcm.edu	37	9	73399114	73399114	+	Missense_Mutation	SNP	C	C	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr9:73399114C>T	ENST00000377111.2	-	7	1298	c.1055G>A	c.(1054-1056)cGa>cAa	p.R352Q	TRPM3_ENST00000396280.5_Missense_Mutation_p.R199Q|TRPM3_ENST00000396292.4_Missense_Mutation_p.R224Q|TRPM3_ENST00000396283.1_Missense_Mutation_p.R224Q|TRPM3_ENST00000358082.3_Missense_Mutation_p.R224Q|TRPM3_ENST00000377101.1_Missense_Mutation_p.R199Q|TRPM3_ENST00000357533.2_Missense_Mutation_p.R354Q|TRPM3_ENST00000423814.3_Missense_Mutation_p.R379Q|TRPM3_ENST00000361823.5_Missense_Mutation_p.R199Q|TRPM3_ENST00000396285.1_Missense_Mutation_p.R199Q|TRPM3_ENST00000377110.3_Missense_Mutation_p.R352Q|TRPM3_ENST00000377106.1_Missense_Mutation_p.R224Q|TRPM3_ENST00000377105.1_Missense_Mutation_p.R199Q|TRPM3_ENST00000408909.2_Missense_Mutation_p.R199Q|TRPM3_ENST00000360823.2_Missense_Mutation_p.R224Q	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	377					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						AGGGGTGTCTCGAAGGTACTC	0.512																																					p.R352Q		Atlas-SNP	.											TRPM3_ENST00000423814,colon,carcinoma,-1,4	TRPM3	700	.	0			c.G1055A						.						110.0	90.0	97.0					9																	73399114		2203	4300	6503	SO:0001583	missense	80036	exon7			GTGTCTCGAAGGT	AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17992	protein-coding gene	gene with protein product	"""melastatin 2"""	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.1055G>A	chr9.hg19:g.73399114C>T	ENSP00000366315:p.Arg352Gln	158.0	0.0		125.0	5.0	NM_001007471	A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Missense_Mutation	SNP	ENST00000377111.2	hg19		.	.	.	.	.	.	.	.	.	.	C	16.12	3.034044	0.54896	.	.	ENSG00000083067	ENST00000377111;ENST00000377110;ENST00000377106;ENST00000360823;ENST00000377105;ENST00000357533;ENST00000408909;ENST00000396285;ENST00000396292;ENST00000358082;ENST00000423814;ENST00000377101;ENST00000396283;ENST00000361823	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.67865	4.09;4.09;0.55;0.56;4.09;4.09;4.09;4.09;0.55;0.56;0.59;4.09;-0.29;4.09	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.48205	0.1487	N	0.16307	0.4	0.44061	D	0.996805	P;B;B;P;B;B;B;B;P;B	0.42973	0.796;0.04;0.369;0.661;0.086;0.41;0.41;0.086;0.545;0.165	B;B;B;B;B;B;B;B;B;B	0.31101	0.124;0.024;0.057;0.074;0.012;0.015;0.079;0.012;0.074;0.034	T	0.48305	-0.9047	10	0.16896	T	0.51	-7.2457	20.8794	0.99867	0.0:1.0:0.0:0.0	.	377;199;352;352;352;354;224;199;352;199	Q9HCF6;Q504Y1;Q9HCF6-2;Q9HCF6-10;Q9HCF6-4;A2A3F7;A2A3F4;G5E9G1;Q9HCF6-8;A2A3F3	TRPM3_HUMAN;.;.;.;.;.;.;.;.;.	Q	352;352;224;224;199;354;199;199;224;224;379;199;224;199	ENSP00000366315:R352Q;ENSP00000366314:R352Q;ENSP00000366310:R224Q;ENSP00000354066:R224Q;ENSP00000366309:R199Q;ENSP00000350140:R354Q;ENSP00000386127:R199Q;ENSP00000379581:R199Q;ENSP00000379587:R224Q;ENSP00000350791:R224Q;ENSP00000389542:R379Q;ENSP00000366305:R199Q;ENSP00000379579:R224Q;ENSP00000355395:R199Q	ENSP00000350140:R354Q	R	-	2	0	TRPM3	72588934	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	4.780000	0.62382	2.941000	0.99782	0.655000	0.94253	CGA	.	.		0.512	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000214157.5	NM_206945	
ABHD17B	51104	hgsc.bcm.edu	37	9	74485072	74485072	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr9:74485072A>G	ENST00000333421.6	-	3	685	c.574T>C	c.(574-576)Tct>Cct	p.S192P	ABHD17B_ENST00000377041.2_Missense_Mutation_p.S192P	NM_001025780.1	NP_001020951.1	Q5VST6	AB17B_HUMAN	abhydrolase domain containing 17B	192						extracellular region (GO:0005576)|membrane (GO:0016020)	hydrolase activity (GO:0016787)										GTCAGAGGAGAATGAAGAATA	0.413																																					p.S192P		Atlas-SNP	.											.	FAM108B1	24	.	0			c.T574C						.						163.0	149.0	153.0					9																	74485072		2203	4300	6503	SO:0001583	missense	51104	exon3			GAGGAGAATGAAG	AF151825	CCDS35042.1, CCDS35043.1	9q21.2	2013-03-15	2013-03-15	2013-03-15	ENSG00000107362	ENSG00000107362		"""Abhydrolase domain containing"""	24278	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 77"", ""family with sequence similarity 108, member B1"""	C9orf77, FAM108B1		10810093	Standard	XM_006717134		Approved	CGI-67	uc004ail.3	Q5VST6	OTTHUMG00000020001	ENST00000333421.6:c.574T>C	chr9.hg19:g.74485072A>G	ENSP00000330222:p.Ser192Pro	184.0	0.0		94.0	4.0	NM_016014	A8KAJ5|Q5VST7|Q86YB6|Q8IY03|Q9Y377	Missense_Mutation	SNP	ENST00000333421.6	hg19	CCDS35043.1	.	.	.	.	.	.	.	.	.	.	A	25.4	4.634537	0.87660	.	.	ENSG00000107362	ENST00000377041;ENST00000333421	T;T	0.51574	0.7;0.7	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	D	0.82554	0.5062	H	0.99379	4.54	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.994	D	0.90423	0.4418	10	0.87932	D	0	-12.9451	15.6113	0.76721	1.0:0.0:0.0:0.0	.	192;192	Q5VST6;Q5VST6-2	F108B_HUMAN;.	P	192	ENSP00000366240:S192P;ENSP00000330222:S192P	ENSP00000330222:S192P	S	-	1	0	FAM108B1	73674892	1.000000	0.71417	1.000000	0.80357	0.837000	0.47467	9.152000	0.94680	2.151000	0.67156	0.533000	0.62120	TCT	.	.		0.413	ABHD17B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052625.1	NM_016014	
GDA	9615	hgsc.bcm.edu	37	9	74842881	74842881	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr9:74842881A>G	ENST00000358399.3	+	9	938	c.845A>G	c.(844-846)tAc>tGc	p.Y282C	GDA_ENST00000477618.1_3'UTR|GDA_ENST00000376986.1_Missense_Mutation_p.Y204C|GDA_ENST00000376989.3_Missense_Mutation_p.Y221C|GDA_ENST00000545168.1_Missense_Mutation_p.Y208C|GDA_ENST00000238018.4_Missense_Mutation_p.Y282C	NM_001242505.2|NM_001242506.2|NM_004293.4	NP_001229434.1|NP_001229435.1|NP_004284.1	Q9Y2T3	GUAD_HUMAN	guanine deaminase	282					guanine catabolic process (GO:0006147)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	guanine deaminase activity (GO:0008892)|zinc ion binding (GO:0008270)			central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1)	32		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		CACGGCTGCTACCTCTCTGCA	0.448																																					p.Y282C		Atlas-SNP	.											.	GDA	113	.	0			c.A845G						.						122.0	93.0	103.0					9																	74842881		2203	4300	6503	SO:0001583	missense	9615	exon9			GCTGCTACCTCTC	AF095286	CCDS6641.1, CCDS56576.1, CCDS56577.1	9q21.13	2008-05-14			ENSG00000119125	ENSG00000119125			4212	protein-coding gene	gene with protein product		139260				10075721, 3966794	Standard	NM_001242507		Approved		uc004air.3	Q9Y2T3	OTTHUMG00000020005	ENST00000358399.3:c.845A>G	chr9.hg19:g.74842881A>G	ENSP00000351170:p.Tyr282Cys	104.0	0.0		65.0	4.0	NM_004293	B4DTY5|Q5SZC7|Q9H335|Q9ULG2	Missense_Mutation	SNP	ENST00000358399.3	hg19	CCDS6641.1	.	.	.	.	.	.	.	.	.	.	A	19.74	3.883957	0.72410	.	.	ENSG00000119125	ENST00000545168;ENST00000238018;ENST00000376989;ENST00000376986;ENST00000358399;ENST00000414671	D;D;D;D;D;D	0.90563	-2.69;-2.69;-2.69;-2.69;-2.69;-2.69	5.51	5.51	0.81932	Amidohydrolase 1 (1);	0.121996	0.64402	D	0.000013	D	0.92381	0.7582	M	0.83483	2.645	0.47659	D	0.999488	P;P;P	0.48503	0.651;0.794;0.911	B;B;P	0.46975	0.432;0.238;0.533	D	0.93283	0.6662	10	0.72032	D	0.01	-14.2477	13.4407	0.61112	1.0:0.0:0.0:0.0	.	204;282;282	Q5SZC6;Q9Y2T3-3;Q9Y2T3	.;.;GUAD_HUMAN	C	208;282;221;204;282;148	ENSP00000437972:Y208C;ENSP00000238018:Y282C;ENSP00000366188:Y221C;ENSP00000366185:Y204C;ENSP00000351170:Y282C;ENSP00000403897:Y148C	ENSP00000238018:Y282C	Y	+	2	0	GDA	74032701	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	6.463000	0.73530	2.210000	0.71456	0.533000	0.62120	TAC	.	.		0.448	GDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052633.1		
GAS1	2619	hgsc.bcm.edu	37	9	89561085	89561085	+	Missense_Mutation	SNP	G	G	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr9:89561085G>A	ENST00000298743.7	-	1	1019	c.610C>T	c.(610-612)Cgc>Tgc	p.R204C	RP11-276H19.1_ENST00000415801.1_lincRNA	NM_002048.2	NP_002039.2	P54826	GAS1_HUMAN	growth arrest-specific 1	204					axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|cell cycle arrest (GO:0007050)|cell fate commitment (GO:0045165)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cerebellum morphogenesis (GO:0021587)|developmental growth (GO:0048589)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digit morphogenesis (GO:0042733)|eye morphogenesis (GO:0048592)|middle ear morphogenesis (GO:0042474)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein processing (GO:0010955)|negative regulation of smoothened signaling pathway (GO:0045879)|odontogenesis (GO:0042476)|outer ear morphogenesis (GO:0042473)|palate development (GO:0060021)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smoothened signaling pathway (GO:0045880)|programmed cell death (GO:0012501)|regulation of apoptotic process (GO:0042981)|regulation of ER to Golgi vesicle-mediated transport (GO:0060628)|regulation of smoothened signaling pathway (GO:0008589)	anchored component of plasma membrane (GO:0046658)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				kidney(1)|lung(2)|skin(1)	4						ATGACGGTGCGGCATTCGTCC	0.667																																					p.R204C		Atlas-SNP	.											.	GAS1	8	.	0			c.C610T						.						24.0	22.0	23.0					9																	89561085		2201	4297	6498	SO:0001583	missense	2619	exon1			CGGTGCGGCATTC		CCDS6674.1	9q21.3-q22	2008-07-21			ENSG00000180447	ENSG00000180447			4165	protein-coding gene	gene with protein product	"""Growth arrest-specific gene-1"""	139185				8307588	Standard	NM_002048		Approved		uc004aox.4	P54826	OTTHUMG00000020141	ENST00000298743.7:c.610C>T	chr9.hg19:g.89561085G>A	ENSP00000298743:p.Arg204Cys	63.0	0.0		39.0	4.0	NM_002048	B9EGM4|Q6B086	Missense_Mutation	SNP	ENST00000298743.7	hg19	CCDS6674.1	.	.	.	.	.	.	.	.	.	.	G	13.54	2.268603	0.40095	.	.	ENSG00000180447	ENST00000298743	T	0.65549	-0.16	4.34	4.34	0.51931	GDNF/GAS1 (2);	0.091849	0.44285	U	0.000464	T	0.68522	0.3010	L	0.42245	1.32	0.54753	D	0.999983	D	0.89917	1.0	D	0.79784	0.993	T	0.70539	-0.4844	10	0.87932	D	0	-1.3365	7.6289	0.28228	0.0877:0.0:0.7503:0.162	.	204	P54826	GAS1_HUMAN	C	204	ENSP00000298743:R204C	ENSP00000298743:R204C	R	-	1	0	GAS1	88750905	1.000000	0.71417	1.000000	0.80357	0.007000	0.05969	2.835000	0.48175	1.946000	0.56461	0.555000	0.69702	CGC	.	.		0.667	GAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052928.1	NM_002048	
IARS	3376	hgsc.bcm.edu	37	9	95012165	95012165	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr9:95012165T>C	ENST00000375643.3	-	25	2857	c.2591A>G	c.(2590-2592)aAg>aGg	p.K864R	IARS_ENST00000375629.3_5'UTR|IARS_ENST00000443024.2_Missense_Mutation_p.K864R|IARS_ENST00000447699.2_Missense_Mutation_p.K754R	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	864					gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|osteoblast differentiation (GO:0001649)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	CTCCAAAGACTTGATATCTTT	0.368																																					p.K864R		Atlas-SNP	.											.	IARS	74	.	0			c.A2591G						.						130.0	137.0	135.0					9																	95012165		2203	4299	6502	SO:0001583	missense	3376	exon25			AAAGACTTGATAT	AB209234	CCDS6694.1	9q21	2011-07-01	2007-02-26		ENSG00000196305	ENSG00000196305	6.1.1.5	"""Aminoacyl tRNA synthetases / Class I"""	5330	protein-coding gene	gene with protein product	"""isoleucine tRNA ligase 1, cytoplasmic"""	600709				8812440	Standard	NM_002161		Approved	ILRS, IARS1	uc004aru.4	P41252	OTTHUMG00000020219	ENST00000375643.3:c.2591A>G	chr9.hg19:g.95012165T>C	ENSP00000364794:p.Lys864Arg	144.0	0.0		78.0	4.0	NM_013417	A8KAE9|Q5TCD0|Q7Z3T4|Q9H588	Missense_Mutation	SNP	ENST00000375643.3	hg19	CCDS6694.1	.	.	.	.	.	.	.	.	.	.	T	10.59	1.391846	0.25118	.	.	ENSG00000196305	ENST00000375643;ENST00000443024;ENST00000447699;ENST00000375660;ENST00000449893	T;T;T	0.56776	0.44;0.44;0.44	5.88	-6.57	0.01842	Aminoacyl-tRNA synthetase, class 1a, anticodon-binding (1);	0.506148	0.25299	N	0.031679	T	0.31544	0.0800	N	0.17248	0.465	0.80722	D	1	B;B;B	0.10296	0.003;0.0;0.0	B;B;B	0.17098	0.017;0.001;0.002	T	0.04565	-1.0942	10	0.19590	T	0.45	-2.3002	18.3501	0.90336	0.0:0.6125:0.0:0.3875	.	374;864;709	F5H1M4;P41252;Q6P0M4	.;SYIC_HUMAN;.	R	864;864;754;864;96	ENSP00000364794:K864R;ENSP00000406448:K864R;ENSP00000415020:K754R	ENSP00000364794:K864R	K	-	2	0	IARS	94051986	0.984000	0.35163	0.060000	0.19600	0.939000	0.58152	0.465000	0.22004	-1.152000	0.02832	-0.326000	0.08463	AAG	.	.		0.368	IARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053059.2	NM_002161	
IPPK	64768	hgsc.bcm.edu	37	9	95411851	95411851	+	Missense_Mutation	SNP	G	G	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr9:95411851G>T	ENST00000287996.3	-	5	574	c.298C>A	c.(298-300)Cgc>Agc	p.R100S		NM_022755.5	NP_073592.1	Q9H8X2	IPPK_HUMAN	inositol 1,3,4,5,6-pentakisphosphate 2-kinase	100					inositol phosphate metabolic process (GO:0043647)|inositol phosphorylation (GO:0052746)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|inositol pentakisphosphate 2-kinase activity (GO:0035299)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(2)|urinary_tract(1)	15						TTGTCACAGCGAGACTCTGGA	0.532																																					p.R100S		Atlas-SNP	.											.	IPPK	34	.	0			c.C298A						.						119.0	94.0	103.0					9																	95411851		2203	4300	6503	SO:0001583	missense	64768	exon5			CACAGCGAGACTC	AK023225	CCDS6699.1	9q22.31	2010-12-02	2005-10-20	2005-10-20	ENSG00000127080	ENSG00000127080			14645	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 12"""	C9orf12		12084730	Standard	NM_022755		Approved	INSP5K2, FLJ13163, IP5K, IPK1	uc004asl.1	Q9H8X2	OTTHUMG00000020231	ENST00000287996.3:c.298C>A	chr9.hg19:g.95411851G>T	ENSP00000287996:p.Arg100Ser	98.0	0.0		67.0	4.0	NM_022755	Q5T9F7|Q9H7V8	Missense_Mutation	SNP	ENST00000287996.3	hg19	CCDS6699.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.241065	0.79912	.	.	ENSG00000127080	ENST00000287996	T	0.50001	0.76	5.3	4.39	0.52855	.	0.092160	0.85682	N	0.000000	T	0.67887	0.2941	M	0.75615	2.305	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.72984	-0.4125	10	0.87932	D	0	-21.5396	14.609	0.68501	0.0:0.0:0.8527:0.1473	.	100	Q9H8X2	IPPK_HUMAN	S	100	ENSP00000287996:R100S	ENSP00000287996:R100S	R	-	1	0	IPPK	94451672	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	7.402000	0.79972	1.364000	0.46038	0.557000	0.71058	CGC	.	.		0.532	IPPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053101.1	NM_022755	
WNK2	65268	hgsc.bcm.edu	37	9	96024258	96024258	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr9:96024258T>C	ENST00000297954.4	+	12	3229	c.3229T>C	c.(3229-3231)Tct>Cct	p.S1077P	WNK2_ENST00000427277.2_Missense_Mutation_p.S689P|WNK2_ENST00000349097.3_Missense_Mutation_p.S689P|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000395477.2_Missense_Mutation_p.S1077P|WNK2_ENST00000395475.2_3'UTR	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	1077					intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						GGCCACGGTGTCTGCCTCTGT	0.697																																					p.S1077P		Atlas-SNP	.											.	WNK2	277	.	0			c.T3229C						.						32.0	28.0	29.0					9																	96024258		2199	4295	6494	SO:0001583	missense	65268	exon12			ACGGTGTCTGCCT	AJ242724	CCDS75858.1	9q22.3	2008-02-05	2003-06-23	2005-01-22	ENSG00000165238	ENSG00000165238			14542	protein-coding gene	gene with protein product		606249	"""serologically defined colon cancer antigen 43"""	SDCCAG43, PRKWNK2		9610721, 11571656	Standard	NM_006648		Approved	NY-CO-43, KIAA1760	uc004atj.3	Q9Y3S1	OTTHUMG00000020247	ENST00000297954.4:c.3229T>C	chr9.hg19:g.96024258T>C	ENSP00000297954:p.Ser1077Pro	123.0	0.0		71.0	4.0	NM_006648	Q5VWF1|Q5VWF2|Q8IY36|Q9C0A3|Q9H3P4	Missense_Mutation	SNP	ENST00000297954.4	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	8.452|8.452	0.853252|0.853252	0.17106|0.17106	.|.	.|.	ENSG00000165238|ENSG00000165238	ENST00000297954;ENST00000395477;ENST00000349097;ENST00000427277|ENST00000411624	T;T;T;T|T	0.69306|0.61627	-0.36;-0.39;0.23;0.2|0.09	5.3|5.3	-0.198|-0.198	0.13224|0.13224	.|.	2.246780|.	0.01525|.	N|.	0.018559|.	T|T	0.28896|0.28896	0.0717|0.0717	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	0.999999|0.999999	D;B;P;P|.	0.54772|.	0.968;0.396;0.531;0.946|.	P;B;B;B|.	0.46758|.	0.526;0.063;0.095;0.326|.	T|T	0.18209|0.18209	-1.0344|-1.0344	10|7	0.35671|0.08179	T|T	0.21|0.78	.|.	3.5848|3.5848	0.07966|0.07966	0.3304:0.0:0.3828:0.2869|0.3304:0.0:0.3828:0.2869	.|.	1077;680;1077;1077|.	Q9Y3S1-2;A6PVR4;F8W9F9;Q9Y3S1|.	.;.;.;WNK2_HUMAN|.	P|A	1077;1077;689;689|680	ENSP00000297954:S1077P;ENSP00000378860:S1077P;ENSP00000297876:S689P;ENSP00000411181:S689P|ENSP00000414622:V680A	ENSP00000297954:S1077P|ENSP00000414622:V680A	S|V	+|+	1|2	0|0	WNK2|WNK2	95064079|95064079	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	0.071000|0.071000	0.14594|0.14594	-0.031000|-0.031000	0.13781|0.13781	-0.644000|-0.644000	0.03951|0.03951	TCT|GTC	.	.		0.697	WNK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317359.1	NM_006648	
HSD17B3	3293	hgsc.bcm.edu	37	9	99007625	99007625	+	Splice_Site	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr9:99007625A>G	ENST00000375263.3	-	8	654		c.e8+1		HSD17B3_ENST00000375262.2_Splice_Site|HSD17B3_ENST00000464104.1_Splice_Site|RP11-240L7.4_ENST00000448857.1_RNA	NM_000197.1	NP_000188.1	P37058	DHB3_HUMAN	hydroxysteroid (17-beta) dehydrogenase 3						androgen biosynthetic process (GO:0006702)|male genitalia development (GO:0030539)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|testosterone biosynthetic process (GO:0061370)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	testosterone 17-beta-dehydrogenase (NADP+) activity (GO:0047045)			breast(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13		Acute lymphoblastic leukemia(62;0.0171)|all_hematologic(171;0.214)				GACATCACTCACCTTGGAAGC	0.453																																					.		Atlas-SNP	.											.	HSD17B3	32	.	0			c.606+2T>C						.						151.0	139.0	143.0					9																	99007625		2203	4300	6503	SO:0001630	splice_region_variant	3293	exon9			TCACTCACCTTGG		CCDS6716.1	9q22	2011-09-20			ENSG00000130948	ENSG00000130948	1.1.1.62	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	5212	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 12C, member 2"""	605573				8075637, 19027726	Standard	NM_000197		Approved	SDR12C2	uc004awa.1	P37058	OTTHUMG00000020292	ENST00000375263.3:c.606+1T>C	chr9.hg19:g.99007625A>G		153.0	0.0		109.0	5.0	NM_000197	Q5U0Q6	Splice_Site	SNP	ENST00000375263.3	hg19	CCDS6716.1	.	.	.	.	.	.	.	.	.	.	A	18.20	3.570236	0.65765	.	.	ENSG00000130948	ENST00000375263;ENST00000375262	.	.	.	5.01	5.01	0.66863	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.131	0.65253	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HSD17B3	98047446	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	3.369000	0.52365	2.243000	0.73865	0.533000	0.62120	.	.	.		0.453	HSD17B3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053259.1	NM_000197	Intron
SLC35D2	11046	hgsc.bcm.edu	37	9	99145784	99145784	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr9:99145784T>C	ENST00000253270.7	-	1	195	c.133A>G	c.(133-135)Aac>Gac	p.N45D	SLC35D2_ENST00000375257.1_Missense_Mutation_p.N45D|SLC35D2_ENST00000482643.1_5'UTR|SLC35D2_ENST00000375259.4_Missense_Mutation_p.N45D	NM_007001.2	NP_008932.2	Q76EJ3	S35D2_HUMAN	solute carrier family 35 (UDP-GlcNAc/UDP-glucose transporter), member D2	45					carbohydrate derivative transport (GO:1901264)|carbohydrate metabolic process (GO:0005975)|carbohydrate transport (GO:0008643)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|nucleotide transmembrane transport (GO:1901679)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	nucleotide-sugar transmembrane transporter activity (GO:0005338)			endometrium(3)|large_intestine(3)|lung(4)|skin(2)	12		Acute lymphoblastic leukemia(62;0.0167)				AGCGCCTTGTTGACAAGCACG	0.756																																					p.N45D		Atlas-SNP	.											.	SLC35D2	20	.	0			c.A133G						.						6.0	6.0	6.0					9																	99145784		2014	4024	6038	SO:0001583	missense	11046	exon1			CCTTGTTGACAAG	AB122077	CCDS6717.1, CCDS69625.1	9q22.33	2013-07-17	2013-07-17		ENSG00000130958	ENSG00000130958		"""Solute carriers"""	20799	protein-coding gene	gene with protein product		609182	"""solute carrier family 35, member D2"""			15607426	Standard	NM_007001		Approved	UGTrel8, SQV7L	uc004awc.3	Q76EJ3	OTTHUMG00000020293	ENST00000253270.7:c.133A>G	chr9.hg19:g.99145784T>C	ENSP00000253270:p.Asn45Asp	43.0	0.0		26.0	4.0	NM_007001	O95454|Q498C1|Q75W21|Q7Z5X5	Missense_Mutation	SNP	ENST00000253270.7	hg19	CCDS6717.1	.	.	.	.	.	.	.	.	.	.	N	26.9	4.781006	0.90282	.	.	ENSG00000130958	ENST00000253270;ENST00000375259;ENST00000375257	T;D;D	0.87491	-1.43;-2.26;-1.97	4.23	4.23	0.50019	.	0.000000	0.85682	D	0.000000	D	0.92967	0.7762	M	0.83953	2.67	0.41375	D	0.987515	D;D;D	0.89917	0.996;1.0;0.998	D;D;D	0.81914	0.981;0.995;0.964	D	0.93885	0.7174	10	0.87932	D	0	.	12.111	0.53840	0.0:0.0:0.0:1.0	.	45;45;45	Q76EJ3-2;Q5VZJ2;Q76EJ3	.;.;S35D2_HUMAN	D	45	ENSP00000253270:N45D;ENSP00000364408:N45D;ENSP00000364406:N45D	ENSP00000253270:N45D	N	-	1	0	SLC35D2	98185605	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.881000	0.63114	1.785000	0.52413	0.440000	0.28878	AAC	.	.		0.756	SLC35D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053261.1		
NCBP1	4686	hgsc.bcm.edu	37	9	100410502	100410502	+	Silent	SNP	C	C	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr9:100410502C>A	ENST00000375147.3	+	8	1150	c.894C>A	c.(892-894)ccC>ccA	p.P298P		NM_002486.4	NP_002477.1	Q09161	NCBP1_HUMAN	nuclear cap binding protein subunit 1, 80kDa	298					7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|mRNA cis splicing, via spliceosome (GO:0045292)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of viral transcription (GO:0050434)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|spliceosomal snRNP assembly (GO:0000387)|termination of RNA polymerase II transcription (GO:0006369)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|mRNA cap binding complex (GO:0005845)|nuclear cap binding complex (GO:0005846)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA cap binding (GO:0000339)			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)	19		Acute lymphoblastic leukemia(62;0.158)				CAGATGATCCCGAGGTAAGTG	0.428																																					p.P298P	Ovarian(36;879 898 2893 44212 50307)	Atlas-SNP	.											.	NCBP1	64	.	0			c.C894A						.						69.0	56.0	61.0					9																	100410502		2203	4300	6503	SO:0001819	synonymous_variant	4686	exon8			TGATCCCGAGGTA	BC001450	CCDS6728.1	9q34.1	2010-01-26	2002-08-29		ENSG00000136937	ENSG00000136937			7658	protein-coding gene	gene with protein product		600469	"""nuclear cap binding protein subunit 1, 80kD"""	NCBP		7937105, 8812508	Standard	NM_002486		Approved	CBP80, Sto1	uc004axq.3	Q09161	OTTHUMG00000020332	ENST00000375147.3:c.894C>A	chr9.hg19:g.100410502C>A		104.0	0.0		54.0	4.0	NM_002486	B2R718|Q59G76|Q5T1V0|Q5T7X2	Silent	SNP	ENST00000375147.3	hg19	CCDS6728.1																																																																																			.	.		0.428	NCBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053337.1	NM_002486	
ALG2	85365	hgsc.bcm.edu	37	9	101980977	101980978	+	Nonsense_Mutation	DNP	CC	CC	AT			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr9:101980977_101980978CC>AT	ENST00000476832.1	-	2	550_551	c.489_490GG>AT	c.(487-492)gaGGaa>gaATaa	p.E164*	ALG2_ENST00000319033.6_Nonsense_Mutation_p.E71*	NM_033087.3	NP_149078.1	O75340	PDCD6_HUMAN	ALG2, alpha-1,3/1,6-mannosyltransferase	0	EF-hand 5. {ECO:0000255|PROSITE- ProRule:PRU00448}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|cellular response to heat (GO:0034605)|intracellular protein transport (GO:0006886)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|proteolysis (GO:0006508)|response to calcium ion (GO:0051592)|vascular endothelial growth factor receptor-2 signaling pathway (GO:0036324)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	binding, bridging (GO:0060090)|calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|calcium-dependent protein binding (GO:0048306)|protein dimerization activity (GO:0046983)	p.E164*(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|prostate(2)	22		Acute lymphoblastic leukemia(62;0.0559)				GTGGTGTATTCCTCTATCCAGT	0.446																																					p.E164X|p.E163E		Atlas-SNP	.											ALG2,NS,carcinoma,0,1|.	ALG2	37	.	1	Substitution - Nonsense(1)	ovary(1)	c.G490T|c.G489A						.																																			SO:0001587	stop_gained	85365	exon2			TGTATTCCTCTAT|GTATTCCTCTATC	AK027417	CCDS6739.1	9q31.1	2013-02-22	2013-02-22		ENSG00000119523	ENSG00000119523	2.4.1.132, 2.4.1.257	"""Glycosyltransferase group 1 domain containing"""	23159	protein-coding gene	gene with protein product		607905	"""asparagine-linked glycosylation 2 homolog (yeast, alpha-1,3-mannosyltransferase)"", ""asparagine-linked glycosylation 2, alpha-1,3-mannosyltransferase homolog (S. cerevisiae)"""			12684507	Standard	NR_024532		Approved	CDGIi, FLJ14511, hALPG2, NET38	uc004azf.3	Q9H553	OTTHUMG00000020355	ENST00000476832.1:c.489_490delinsAT	chr9.hg19:g.101980977_101980978delinsAT	ENSP00000417764:p.Glu164*	79.0	0.0		48.0|47.0	2.0|4.0	NM_033087	B2RD16|E7ESR3|Q2YDC2|Q5TZS0	Nonsense_Mutation|Silent	SNP	ENST00000476832.1	hg19	CCDS6739.1																																																																																			.	.		0.446	ALG2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215080.1	NM_033087	
ZNF189	7743	hgsc.bcm.edu	37	9	104170939	104170939	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr9:104170939T>C	ENST00000339664.2	+	3	1018	c.889T>C	c.(889-891)Ttt>Ctt	p.F297L	ZNF189_ENST00000374861.3_Missense_Mutation_p.F283L|ZNF189_ENST00000259395.4_Missense_Mutation_p.F255L	NM_001278240.1	NP_001265169.1	O75820	ZN189_HUMAN	zinc finger protein 189	297					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				TAAGAAGAGCTTTAGTCGAAA	0.408																																					p.F297L		Atlas-SNP	.											.	ZNF189	79	.	0			c.T889C						.						142.0	146.0	145.0					9																	104170939		2203	4300	6503	SO:0001583	missense	7743	exon3			AAGAGCTTTAGTC	AF025770	CCDS6754.1, CCDS6755.1, CCDS65096.1, CCDS75867.1	9q22-q31	2013-01-08			ENSG00000136870	ENSG00000136870		"""Zinc fingers, C2H2-type"", ""-"""	12980	protein-coding gene	gene with protein product		603132				9653648	Standard	NM_003452		Approved		uc004bbh.2	O75820	OTTHUMG00000020383	ENST00000339664.2:c.889T>C	chr9.hg19:g.104170939T>C	ENSP00000342019:p.Phe297Leu	159.0	0.0		95.0	4.0	NM_003452	O75802|Q5T7D7|Q5T7D8|Q5T7D9|Q9UBL4|Q9UPE9|Q9UPF0|Q9UPF1	Missense_Mutation	SNP	ENST00000339664.2	hg19	CCDS6754.1	.	.	.	.	.	.	.	.	.	.	T	19.23	3.788382	0.70337	.	.	ENSG00000136870	ENST00000374861;ENST00000339664;ENST00000259395	T;T;T	0.46063	0.88;0.88;0.88	4.79	4.79	0.61399	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.49916	D	0.000127	T	0.61438	0.2347	M	0.65975	2.015	0.58432	D	0.999999	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.995;1.0;0.999	T	0.64896	-0.6299	10	0.87932	D	0	.	12.9471	0.58379	0.0:0.0:0.0:1.0	.	282;283;297	B7ZLK9;Q5T7D8;O75820	.;.;ZN189_HUMAN	L	283;297;255	ENSP00000363995:F283L;ENSP00000342019:F297L;ENSP00000259395:F255L	ENSP00000259395:F255L	F	+	1	0	ZNF189	103210760	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.868000	0.87116	2.371000	0.80710	0.533000	0.62120	TTT	.	.		0.408	ZNF189-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053447.1	NM_003452	
ZNF189	7743	hgsc.bcm.edu	37	9	104171114	104171114	+	Missense_Mutation	SNP	G	G	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr9:104171114G>T	ENST00000339664.2	+	3	1193	c.1064G>T	c.(1063-1065)cGg>cTg	p.R355L	ZNF189_ENST00000374861.3_Missense_Mutation_p.R341L|ZNF189_ENST00000259395.4_Missense_Mutation_p.R313L	NM_001278240.1	NP_001265169.1	O75820	ZN189_HUMAN	zinc finger protein 189	355					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				AGTTTCAGTCGGAGCTCATTC	0.408																																					p.R355L		Atlas-SNP	.											.	ZNF189	79	.	0			c.G1064T						.						83.0	89.0	87.0					9																	104171114		2203	4300	6503	SO:0001583	missense	7743	exon3			TCAGTCGGAGCTC	AF025770	CCDS6754.1, CCDS6755.1, CCDS65096.1, CCDS75867.1	9q22-q31	2013-01-08			ENSG00000136870	ENSG00000136870		"""Zinc fingers, C2H2-type"", ""-"""	12980	protein-coding gene	gene with protein product		603132				9653648	Standard	NM_003452		Approved		uc004bbh.2	O75820	OTTHUMG00000020383	ENST00000339664.2:c.1064G>T	chr9.hg19:g.104171114G>T	ENSP00000342019:p.Arg355Leu	141.0	0.0		103.0	5.0	NM_003452	O75802|Q5T7D7|Q5T7D8|Q5T7D9|Q9UBL4|Q9UPE9|Q9UPF0|Q9UPF1	Missense_Mutation	SNP	ENST00000339664.2	hg19	CCDS6754.1	.	.	.	.	.	.	.	.	.	.	G	11.38	1.621238	0.28889	.	.	ENSG00000136870	ENST00000374861;ENST00000339664;ENST00000259395	T;T;T	0.19669	2.13;2.13;2.13	4.79	4.79	0.61399	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.44285	D	0.000478	T	0.23410	0.0566	L	0.53780	1.695	0.42701	D	0.993618	P;B;B	0.38129	0.619;0.406;0.432	B;B;B	0.38194	0.064;0.267;0.12	T	0.01630	-1.1308	10	0.27785	T	0.31	.	16.1533	0.81636	0.0:0.0:1.0:0.0	.	340;341;355	B7ZLK9;Q5T7D8;O75820	.;.;ZN189_HUMAN	L	341;355;313	ENSP00000363995:R341L;ENSP00000342019:R355L;ENSP00000259395:R313L	ENSP00000259395:R313L	R	+	2	0	ZNF189	103210935	0.000000	0.05858	1.000000	0.80357	0.978000	0.69477	0.531000	0.23052	2.941000	0.99782	0.655000	0.94253	CGG	.	.		0.408	ZNF189-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053447.1	NM_003452	
CYLC2	1539	hgsc.bcm.edu	37	9	105767561	105767561	+	Silent	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr9:105767561T>C	ENST00000374798.3	+	5	718	c.648T>C	c.(646-648)gaT>gaC	p.D216D	CYLC2_ENST00000487798.1_Silent_p.D216D	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2	216	3 X approximate tandem repeats.|31 X 3 AA repeats of K-K-X.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				CAGAGAAAGATAGCAAAAAAG	0.363																																					p.D216D		Atlas-SNP	.											.	CYLC2	109	.	0			c.T648C						.						83.0	80.0	81.0					9																	105767561		2203	4300	6503	SO:0001819	synonymous_variant	1539	exon5			GAAAGATAGCAAA	Z46788	CCDS35085.1	9q31.2	2008-07-21			ENSG00000155833	ENSG00000155833			2583	protein-coding gene	gene with protein product		604035				7737358	Standard	NM_001340		Approved		uc004bbs.2	Q14093	OTTHUMG00000020396	ENST00000374798.3:c.648T>C	chr9.hg19:g.105767561T>C		1067.0	0.0		724.0	183.0	NM_001340	B2R8F4|Q5VVJ9	Silent	SNP	ENST00000374798.3	hg19	CCDS35085.1																																																																																			.	.		0.363	CYLC2-001	KNOWN	alternative_3_UTR|NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053463.3	NM_001340	
ACTL7A	10881	hgsc.bcm.edu	37	9	111625693	111625693	+	Missense_Mutation	SNP	G	G	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr9:111625693G>T	ENST00000333999.3	+	1	1091	c.1091G>T	c.(1090-1092)aGc>aTc	p.S364I		NM_006687.2	NP_006678.1	Q9Y615	ACL7A_HUMAN	actin-like 7A	364						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|male germ cell nucleus (GO:0001673)|motile cilium (GO:0031514)|nucleus (GO:0005634)|protein complex (GO:0043234)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TGCGGGGGCAGCACGATGCTC	0.577																																					p.S364I	Esophageal Squamous(177;1480 3591 17554)	Atlas-SNP	.											.	ACTL7A	34	.	0			c.G1091T						.						122.0	103.0	109.0					9																	111625693		2203	4300	6503	SO:0001583	missense	10881	exon1			GGGGCAGCACGAT	BC014610	CCDS6772.1	9q31	2008-02-05			ENSG00000187003	ENSG00000187003			161	protein-coding gene	gene with protein product		604303				10373328	Standard	NM_006687		Approved		uc004bdj.1	Q9Y615	OTTHUMG00000020461	ENST00000333999.3:c.1091G>T	chr9.hg19:g.111625693G>T	ENSP00000334300:p.Ser364Ile	123.0	0.0		75.0	4.0	NM_006687	B2RC83|Q5JSV0	Missense_Mutation	SNP	ENST00000333999.3	hg19	CCDS6772.1	.	.	.	.	.	.	.	.	.	.	G	13.27	2.186966	0.38609	.	.	ENSG00000187003	ENST00000333999	D	0.95272	-3.66	5.65	3.68	0.42216	.	0.000000	0.56097	D	0.000034	D	0.95915	0.8670	M	0.90019	3.08	0.44531	D	0.99748	P	0.44006	0.824	P	0.46850	0.529	D	0.96526	0.9389	10	0.87932	D	0	.	13.4584	0.61212	0.0:0.428:0.572:0.0	.	364	Q9Y615	ACL7A_HUMAN	I	364	ENSP00000334300:S364I	ENSP00000334300:S364I	S	+	2	0	ACTL7A	110665514	0.996000	0.38824	0.997000	0.53966	0.617000	0.37484	2.178000	0.42519	1.514000	0.48869	0.655000	0.94253	AGC	.	.		0.577	ACTL7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053570.1	NM_006687	
SVEP1	79987	hgsc.bcm.edu	37	9	113169313	113169313	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr9:113169313T>C	ENST00000401783.2	-	38	8903	c.8567A>G	c.(8566-8568)gAa>gGa	p.E2856G	SVEP1_ENST00000374469.1_Missense_Mutation_p.E2833G|SVEP1_ENST00000297826.5_Missense_Mutation_p.E782G	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2856	Sushi 24. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GCAAGTGTATTCAATCTCTTT	0.527																																					p.E2856G		Atlas-SNP	.											.	SVEP1	326	.	0			c.A8567G						.						67.0	71.0	69.0					9																	113169313		2039	4186	6225	SO:0001583	missense	79987	exon38			GTGTATTCAATCT	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.8567A>G	chr9.hg19:g.113169313T>C	ENSP00000384917:p.Glu2856Gly	106.0	0.0		78.0	4.0	NM_153366	Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	hg19	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	T	9.434	1.086360	0.20390	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000297826	T;T;T	0.66995	-0.24;-0.24;-0.24	5.58	1.58	0.23477	Complement control module (2);Sushi/SCR/CCP (3);	0.404899	0.28431	N	0.015362	T	0.64789	0.2630	M	0.80332	2.49	0.58432	D	0.999999	B	0.32653	0.379	B	0.35182	0.197	T	0.60042	-0.7340	10	0.34782	T	0.22	.	8.7548	0.34639	0.1153:0.0:0.2528:0.6319	.	2856	Q4LDE5	SVEP1_HUMAN	G	2856;2833;782	ENSP00000384917:E2856G;ENSP00000363593:E2833G;ENSP00000297826:E782G	ENSP00000297826:E782G	E	-	2	0	SVEP1	112209134	0.281000	0.24258	0.985000	0.45067	0.989000	0.77384	1.525000	0.35953	0.448000	0.26722	0.482000	0.46254	GAA	.	.		0.527	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
OR2K2	26248	hgsc.bcm.edu	37	9	114090233	114090233	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr9:114090233T>C	ENST00000374428.1	-	1	567	c.568A>G	c.(568-570)Agt>Ggt	p.S190G	OR2K2_ENST00000302681.1_Missense_Mutation_p.S161G			Q8NGT1	OR2K2_HUMAN	olfactory receptor, family 2, subfamily K, member 2	190						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)	20						AGGGCAAAACTGGTTTCCAGC	0.527																																					p.S161G		Atlas-SNP	.											.	OR2K2	77	.	0			c.A481G						.						80.0	71.0	74.0					9																	114090233		2203	4300	6503	SO:0001583	missense	26248	exon1			CAAAACTGGTTTC	X64977	CCDS6778.1	9q31.3	2012-08-09			ENSG00000171133	ENSG00000171133		"""GPCR / Class A : Olfactory receptors"""	8264	protein-coding gene	gene with protein product				OR2AR1P		1370859, 17010214	Standard	NM_205859		Approved	HTPCRH06, HSHTPCRH06	uc011lwp.2	Q8NGT1	OTTHUMG00000020488	ENST00000374428.1:c.568A>G	chr9.hg19:g.114090233T>C	ENSP00000363550:p.Ser190Gly	58.0	0.0		54.0	4.0	NM_205859	Q2TA61|Q5VYK4|Q6IFI5	Missense_Mutation	SNP	ENST00000374428.1	hg19		.	.	.	.	.	.	.	.	.	.	T	1.997	-0.430313	0.04669	.	.	ENSG00000171133	ENST00000302681;ENST00000374428	T;T	0.37411	1.2;1.2	4.92	-1.52	0.08637	GPCR, rhodopsin-like superfamily (1);	0.312298	0.22608	N	0.057879	T	0.21347	0.0514	L	0.28054	0.825	0.09310	N	1	B	0.11235	0.004	B	0.10450	0.005	T	0.17623	-1.0363	10	0.28530	T	0.3	.	10.3269	0.43798	0.0:0.5123:0.0:0.4877	.	190	Q8NGT1	OR2K2_HUMAN	G	161;190	ENSP00000305055:S161G;ENSP00000363550:S190G	ENSP00000305055:S161G	S	-	1	0	OR2K2	113130054	0.000000	0.05858	0.057000	0.19452	0.246000	0.25737	-2.510000	0.00959	-0.337000	0.08426	-0.326000	0.08463	AGT	.	.		0.527	OR2K2-201	KNOWN	basic	protein_coding	protein_coding		NM_205859	
KIAA1958	158405	hgsc.bcm.edu	37	9	115421704	115421704	+	Silent	SNP	C	C	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr9:115421704C>A	ENST00000337530.6	+	4	1802	c.1506C>A	c.(1504-1506)acC>acA	p.T502T	KIAA1958_ENST00000536272.1_Silent_p.T530T	NM_133465.2	NP_597722.1	Q8N8K9	K1958_HUMAN	KIAA1958	502										endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						CCAGCAGCACCTTCAGCTCCT	0.582																																					p.T502T		Atlas-SNP	.											.	KIAA1958	52	.	0			c.C1506A						.						46.0	43.0	44.0					9																	115421704		2203	4300	6503	SO:0001819	synonymous_variant	158405	exon4			CAGCACCTTCAGC	AB075838	CCDS35108.1, CCDS69642.1	9q33.1	2009-09-22			ENSG00000165185	ENSG00000165185			23427	protein-coding gene	gene with protein product							Standard	NM_001287038		Approved	FLJ39294	uc004bgf.1	Q8N8K9	OTTHUMG00000020508	ENST00000337530.6:c.1506C>A	chr9.hg19:g.115421704C>A		82.0	0.0		73.0	4.0	NM_133465	B7ZKW6|Q2M336|Q5T252|Q8TF43|Q96N02	Silent	SNP	ENST00000337530.6	hg19	CCDS35108.1																																																																																			.	.		0.582	KIAA1958-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053690.1	NM_133465	
FKBP15	23307	hgsc.bcm.edu	37	9	115932080	115932080	+	Missense_Mutation	SNP	G	G	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr9:115932080G>T	ENST00000238256.3	-	26	3026	c.2909C>A	c.(2908-2910)gCa>gAa	p.A970E		NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	970					endocytosis (GO:0006897)|negative regulation of phosphatase activity (GO:0010923)|protein folding (GO:0006457)	actin filament (GO:0005884)|axon (GO:0030424)|endosome (GO:0005768)|growth cone (GO:0030426)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						ATTCAGGGGTGCTTGAGGCTG	0.597																																					p.A970E		Atlas-SNP	.											.	FKBP15	128	.	0			c.C2909A						.						17.0	20.0	19.0					9																	115932080		2051	4191	6242	SO:0001583	missense	23307	exon26			AGGGGTGCTTGAG	AB014574	CCDS48007.1	9q33.1	2014-05-09	2006-10-31	2006-10-31	ENSG00000119321	ENSG00000119321		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	23397	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 76"", ""WASP and FKBP-like protein"""		"""KIAA0674"""	KIAA0674		16756961, 20376207	Standard	NM_015258		Approved	PPP1R76, FKBP133, WAFL	uc004bgs.2	Q5T1M5	OTTHUMG00000020518	ENST00000238256.3:c.2909C>A	chr9.hg19:g.115932080G>T	ENSP00000238256:p.Ala970Glu	99.0	0.0		93.0	4.0	NM_015258	Q05DK8|Q5T1M2|Q6DD85|Q9Y4D0	Missense_Mutation	SNP	ENST00000238256.3	hg19	CCDS48007.1	.	.	.	.	.	.	.	.	.	.	G	6.645	0.487403	0.12641	.	.	ENSG00000119321	ENST00000446284;ENST00000238256	T;T	0.24151	1.87;1.88	4.53	0.23	0.15372	.	.	.	.	.	T	0.20981	0.0505	L	0.57536	1.79	0.09310	N	1	B;B	0.11235	0.004;0.001	B;B	0.11329	0.006;0.003	T	0.34229	-0.9837	9	0.54805	T	0.06	-0.5965	1.9151	0.03295	0.1113:0.147:0.3304:0.4114	.	551;970	B4DVS2;Q5T1M5	.;FKB15_HUMAN	E	995;970	ENSP00000416158:A995E;ENSP00000238256:A970E	ENSP00000238256:A970E	A	-	2	0	FKBP15	114971901	0.001000	0.12720	0.001000	0.08648	0.116000	0.19942	0.665000	0.25083	0.173000	0.19788	0.491000	0.48974	GCA	.	.		0.597	FKBP15-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_015258	
POLE3	54107	hgsc.bcm.edu	37	9	116172342	116172342	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr9:116172342T>C	ENST00000374171.4	-	3	315	c.145A>G	c.(145-147)Aca>Gca	p.T49A	C9orf43_ENST00000490544.1_3'UTR|C9orf43_ENST00000374165.1_5'Flank|POLE3_ENST00000479871.1_5'UTR|C9orf43_ENST00000288462.4_5'Flank|POLE3_ENST00000374169.3_Missense_Mutation_p.T49A	NM_001278255.1|NM_017443.4	NP_001265184.1|NP_059139.3	Q9NRF9	DPOE3_HUMAN	polymerase (DNA directed), epsilon 3, accessory subunit	49					DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)|histone H3 acetylation (GO:0043966)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|epsilon DNA polymerase complex (GO:0008622)|nucleus (GO:0005634)	DNA-directed DNA polymerase activity (GO:0003887)|sequence-specific DNA binding (GO:0043565)			large_intestine(2)|lung(1)	3					Cladribine(DB00242)	CACCAGGATGTGGCGTACAGC	0.652																																					p.T49A		Atlas-SNP	.											.	POLE3	8	.	0			c.A145G						.						18.0	19.0	18.0					9																	116172342		2190	4285	6475	SO:0001583	missense	54107	exon3			AGGATGTGGCGTA	AF261689	CCDS6795.1	9q33	2012-05-18	2012-05-18		ENSG00000148229	ENSG00000148229		"""DNA polymerases"""	13546	protein-coding gene	gene with protein product	"""histone fold protein CHRAC17"", ""DNA polymerase epsilon p17 subunit"", ""chromatin accessibility complex 17"", ""arsenic transactivated protein"""	607267	"""polymerase (DNA directed), epsilon 3 (p17 subunit)"""			10801849, 10880450	Standard	NM_017443		Approved	CHRAC17, Ybl1, p17, CHARAC17	uc031tet.1	Q9NRF9	OTTHUMG00000020523	ENST00000374171.4:c.145A>G	chr9.hg19:g.116172342T>C	ENSP00000363286:p.Thr49Ala	67.0	0.0		43.0	4.0	NM_017443	Q5W0U1|Q8N758|Q8NCE5|Q9NR32	Missense_Mutation	SNP	ENST00000374171.4	hg19	CCDS6795.1	.	.	.	.	.	.	.	.	.	.	T	29.5	5.008275	0.93346	.	.	ENSG00000148229	ENST00000374171;ENST00000374169	T;T	0.38077	1.16;1.16	4.88	4.88	0.63580	Histone-fold (2);Transcription factor CBF/NF-Y/archaeal histone (1);	0.000000	0.85682	D	0.000000	T	0.48978	0.1530	L	0.58810	1.83	0.80722	D	1	P	0.50617	0.937	P	0.56216	0.794	T	0.51949	-0.8640	10	0.87932	D	0	-5.2389	11.9833	0.53131	0.0:0.0:0.0:1.0	.	49	Q9NRF9	DPOE3_HUMAN	A	49	ENSP00000363286:T49A;ENSP00000363284:T49A	ENSP00000363284:T49A	T	-	1	0	POLE3	115212163	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.718000	0.74713	2.050000	0.60909	0.460000	0.39030	ACA	.	.		0.652	POLE3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053730.1	NM_017443	
COL27A1	85301	hgsc.bcm.edu	37	9	116931466	116931466	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr9:116931466A>G	ENST00000356083.3	+	3	2022	c.1631A>G	c.(1630-1632)aAa>aGa	p.K544R		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	544	Pro-rich.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						GCCTCAAAGAAAGCCGGACCC	0.632																																					p.K544R		Atlas-SNP	.											.	COL27A1	200	.	0			c.A1631G						.						76.0	97.0	90.0					9																	116931466		2203	4300	6503	SO:0001583	missense	85301	exon3			CAAAGAAAGCCGG	AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"""Collagens"""	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.1631A>G	chr9.hg19:g.116931466A>G	ENSP00000348385:p.Lys544Arg	115.0	0.0		87.0	4.0	NM_032888	Q66K43|Q96JF7	Missense_Mutation	SNP	ENST00000356083.3	hg19	CCDS6802.1	.	.	.	.	.	.	.	.	.	.	A	9.633	1.136893	0.21123	.	.	ENSG00000196739	ENST00000356083;ENST00000357257;ENST00000374106;ENST00000451716	D;D	0.91945	-2.62;-2.94	5.41	5.41	0.78517	.	.	.	.	.	D	0.92176	0.7519	L	0.36672	1.1	0.28952	N	0.890347	P;D	0.76494	0.9;0.999	P;D	0.66716	0.591;0.946	D	0.84838	0.0806	9	0.12103	T	0.63	.	11.8344	0.52314	1.0:0.0:0.0:0.0	.	544;491	Q8IZC6;Q5T1U7	CORA1_HUMAN;.	R	544;544;491;491	ENSP00000348385:K544R;ENSP00000391328:K491R	ENSP00000348385:K544R	K	+	2	0	COL27A1	115971287	0.920000	0.31207	0.986000	0.45419	0.381000	0.30169	2.713000	0.47194	2.052000	0.61016	0.460000	0.39030	AAA	.	.		0.632	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	NM_032888	
ASTN2	23245	hgsc.bcm.edu	37	9	119858432	119858432	+	Splice_Site	SNP	T	T	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr9:119858432T>A	ENST00000313400.4	-	5	1269		c.e5-2		ASTN2_ENST00000361209.2_Splice_Site|ASTN2_ENST00000361477.3_Splice_Site|AL354981.1_ENST00000583553.1_RNA|ASTN2_ENST00000373996.3_Splice_Site			O75129	ASTN2_HUMAN	astrotactin 2						negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						TGATTCCTCCTGTGAGTAAGC	0.542																																					.		Atlas-SNP	.											.	ASTN2	307	.	0			c.1016-2A>T						.						95.0	74.0	81.0					9																	119858432		2203	4300	6503	SO:0001630	splice_region_variant	23245	exon5			TCCTCCTGTGAGT	AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.1169-2A>T	chr9.hg19:g.119858432T>A		134.0	0.0		81.0	25.0	NM_014010	A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Splice_Site	SNP	ENST00000313400.4	hg19		.	.	.	.	.	.	.	.	.	.	T	18.36	3.606103	0.66445	.	.	ENSG00000148219	ENST00000313400;ENST00000373996;ENST00000373986;ENST00000361209	.	.	.	4.98	4.98	0.66077	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.4809	0.55842	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ASTN2	118898253	1.000000	0.71417	0.985000	0.45067	0.796000	0.44982	4.485000	0.60279	2.013000	0.59113	0.402000	0.26972	.	.	.		0.542	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010	Intron
PHF19	26147	hgsc.bcm.edu	37	9	123631484	123631484	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr9:123631484T>C	ENST00000373896.3	-	6	842	c.590A>G	c.(589-591)tAc>tGc	p.Y197C	PHF19_ENST00000419155.1_5'Flank|PHF19_ENST00000487555.1_5'Flank	NM_015651.1	NP_056466.1	Q5T6S3	PHF19_HUMAN	PHD finger protein 19	197					chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K27 methylation (GO:0061087)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)	methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GCAGTAGCAGTAGCATTGCTG	0.682																																					p.Y197C		Atlas-SNP	.											.	PHF19	47	.	0			c.A590G						.						25.0	22.0	23.0					9																	123631484		2203	4300	6503	SO:0001583	missense	26147	exon6			TAGCAGTAGCATT	BX640713	CCDS35116.1, CCDS35117.1, CCDS69648.1, CCDS75889.1	9q34.11	2013-01-28			ENSG00000119403	ENSG00000119403		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	24566	protein-coding gene	gene with protein product	"""polycomb-like 3"", ""tudor domain containing 19B"""	609740				15563832	Standard	XM_005251906		Approved	DKFZP727G051, PCL3, MTF2L1, TDRD19B	uc004bks.1	Q5T6S3	OTTHUMG00000020577	ENST00000373896.3:c.590A>G	chr9.hg19:g.123631484T>C	ENSP00000363003:p.Tyr197Cys	118.0	0.0		75.0	4.0	NM_015651	Q32NF2|Q5T6S4|Q6N038|Q8TBL6|Q9UFS9	Missense_Mutation	SNP	ENST00000373896.3	hg19	CCDS35116.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.476806	0.84640	.	.	ENSG00000119403	ENST00000544082;ENST00000373896	T	0.58506	0.33	5.07	5.07	0.68467	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.261651	0.39146	N	0.001456	T	0.74351	0.3705	M	0.84511	2.7	0.80722	D	1	D	0.54772	0.968	P	0.57548	0.823	T	0.79928	-0.1596	10	0.87932	D	0	-12.2448	14.307	0.66391	0.0:0.0:0.0:1.0	.	197	Q5T6S3	PHF19_HUMAN	C	197	ENSP00000363003:Y197C	ENSP00000363003:Y197C	Y	-	2	0	PHF19	122671305	1.000000	0.71417	1.000000	0.80357	0.676000	0.39594	7.894000	0.87336	2.040000	0.60383	0.254000	0.18369	TAC	.	.		0.682	PHF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053838.3	XM_045308	
DAB2IP	153090	hgsc.bcm.edu	37	9	124522560	124522560	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr9:124522560A>G	ENST00000408936.3	+	6	1194	c.1012A>G	c.(1012-1014)Acc>Gcc	p.T338A	DAB2IP_ENST00000309989.1_Missense_Mutation_p.T214A|DAB2IP_ENST00000259371.2_Missense_Mutation_p.T310A			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	338					activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|angiogenesis (GO:0001525)|cell cycle (GO:0007049)|cell motility involved in cerebral cortex radial glia guided migration (GO:0021814)|cellular protein catabolic process (GO:0044257)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|layer formation in cerebral cortex (GO:0021819)|negative regulation of angiogenesis (GO:0016525)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G0 to G1 transition (GO:0070317)|negative regulation of GTPase activity (GO:0034260)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphatidylinositol 3-kinase activity (GO:0043553)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of Ras GTPase activity (GO:0034261)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuron projection morphogenesis (GO:0048812)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of dendrite development (GO:1900006)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of synapse maturation (GO:0090129)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of ARF GTPase activity (GO:0032312)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein complex assembly (GO:0043254)|response to unfolded protein (GO:0006986)|transformed cell apoptotic process (GO:0006927)|tube formation (GO:0035148)|vascular endothelial growth factor receptor-2 signaling pathway (GO:0036324)	axon (GO:0030424)|cerebellar mossy fiber (GO:0044300)|climbing fiber (GO:0044301)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|neuronal cell body (GO:0043025)|neuronal cell body membrane (GO:0032809)|parallel fiber (GO:1990032)|plasma membrane (GO:0005886)	14-3-3 protein binding (GO:0071889)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|mitogen-activated protein kinase kinase binding (GO:0031434)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase 2A binding (GO:0051721)|Ras GTPase activator activity (GO:0005099)|SH3 domain binding (GO:0017124)|signaling adaptor activity (GO:0035591)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						CCAAACCATCACCATCCTGCC	0.607																																					p.T310A		Atlas-SNP	.											.	DAB2IP	150	.	0			c.A928G						.						100.0	72.0	81.0					9																	124522560		2203	4300	6503	SO:0001583	missense	153090	exon6			ACCATCACCATCC	AF367051	CCDS6832.1, CCDS6833.2	9q33.1-q33.3	2008-07-21			ENSG00000136848	ENSG00000136848			17294	protein-coding gene	gene with protein product	"""nGAP-like protein"", ""DOC-2/DAB2 interactive protein"", ""ASK-interacting protein"", ""ASK1-interacting protein 1"""	609205				11944990, 11812785	Standard	XM_005251721		Approved	AF9Q34, DIP1/2, KIAA1743, AIP1	uc004bln.3	Q5VWQ8	OTTHUMG00000020595	ENST00000408936.3:c.1012A>G	chr9.hg19:g.124522560A>G	ENSP00000386183:p.Thr338Ala	134.0	0.0		81.0	4.0	NM_032552	A6H8V2|A6NHI9|B0QZB1|G3XA90|Q8TDL2|Q96SE1|Q9C0C0	Missense_Mutation	SNP	ENST00000408936.3	hg19		.	.	.	.	.	.	.	.	.	.	A	14.99	2.701458	0.48307	.	.	ENSG00000136848	ENST00000436835;ENST00000259371;ENST00000408936;ENST00000373782;ENST00000309989	T;T;T;T;T	0.54071	0.59;2.3;2.3;2.2;2.2	4.33	4.33	0.51752	.	0.163089	0.64402	D	0.000003	T	0.41419	0.1158	L	0.36672	1.1	0.31871	N	0.619704	B	0.13145	0.007	B	0.15870	0.014	T	0.45086	-0.9285	9	.	.	.	.	12.9856	0.58590	1.0:0.0:0.0:0.0	.	310	G3XA90	.	A	214;310;338;247;214	ENSP00000409327:T214A;ENSP00000259371:T310A;ENSP00000386183:T338A;ENSP00000362887:T247A;ENSP00000310827:T214A	.	T	+	1	0	DAB2IP	123562381	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.471000	0.80985	1.723000	0.51488	0.459000	0.35465	ACC	.	.		0.607	DAB2IP-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317857.1	NM_032552	
DAB2IP	153090	hgsc.bcm.edu	37	9	124528986	124528986	+	Silent	SNP	C	C	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr9:124528986C>T	ENST00000408936.3	+	9	1856	c.1674C>T	c.(1672-1674)acC>acT	p.T558T	DAB2IP_ENST00000309989.1_Silent_p.T434T|DAB2IP_ENST00000259371.2_Silent_p.T530T			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	558	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|angiogenesis (GO:0001525)|cell cycle (GO:0007049)|cell motility involved in cerebral cortex radial glia guided migration (GO:0021814)|cellular protein catabolic process (GO:0044257)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|layer formation in cerebral cortex (GO:0021819)|negative regulation of angiogenesis (GO:0016525)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G0 to G1 transition (GO:0070317)|negative regulation of GTPase activity (GO:0034260)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphatidylinositol 3-kinase activity (GO:0043553)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of Ras GTPase activity (GO:0034261)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuron projection morphogenesis (GO:0048812)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of dendrite development (GO:1900006)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of synapse maturation (GO:0090129)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of ARF GTPase activity (GO:0032312)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein complex assembly (GO:0043254)|response to unfolded protein (GO:0006986)|transformed cell apoptotic process (GO:0006927)|tube formation (GO:0035148)|vascular endothelial growth factor receptor-2 signaling pathway (GO:0036324)	axon (GO:0030424)|cerebellar mossy fiber (GO:0044300)|climbing fiber (GO:0044301)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|neuronal cell body (GO:0043025)|neuronal cell body membrane (GO:0032809)|parallel fiber (GO:1990032)|plasma membrane (GO:0005886)	14-3-3 protein binding (GO:0071889)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|mitogen-activated protein kinase kinase binding (GO:0031434)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase 2A binding (GO:0051721)|Ras GTPase activator activity (GO:0005099)|SH3 domain binding (GO:0017124)|signaling adaptor activity (GO:0035591)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						CCAAGGTCACCCAGAACCTGG	0.632																																					p.T530T		Atlas-SNP	.											.	DAB2IP	150	.	0			c.C1590T						.						126.0	117.0	120.0					9																	124528986		2203	4300	6503	SO:0001819	synonymous_variant	153090	exon9			GGTCACCCAGAAC	AF367051	CCDS6832.1, CCDS6833.2	9q33.1-q33.3	2008-07-21			ENSG00000136848	ENSG00000136848			17294	protein-coding gene	gene with protein product	"""nGAP-like protein"", ""DOC-2/DAB2 interactive protein"", ""ASK-interacting protein"", ""ASK1-interacting protein 1"""	609205				11944990, 11812785	Standard	XM_005251721		Approved	AF9Q34, DIP1/2, KIAA1743, AIP1	uc004bln.3	Q5VWQ8	OTTHUMG00000020595	ENST00000408936.3:c.1674C>T	chr9.hg19:g.124528986C>T		165.0	0.0		97.0	4.0	NM_032552	A6H8V2|A6NHI9|B0QZB1|G3XA90|Q8TDL2|Q96SE1|Q9C0C0	Silent	SNP	ENST00000408936.3	hg19																																																																																				.	.		0.632	DAB2IP-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317857.1	NM_032552	
ZNF79	7633	hgsc.bcm.edu	37	9	130206630	130206630	+	Silent	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr9:130206630A>G	ENST00000342483.5	+	5	1057	c.651A>G	c.(649-651)ggA>ggG	p.G217G	ZNF79_ENST00000543471.1_Silent_p.G193G	NM_007135.2	NP_009066.2	Q15937	ZNF79_HUMAN	zinc finger protein 79	217					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						GCCACACTGGAGAGAAGCCCT	0.478																																					p.G217G		Atlas-SNP	.											.	ZNF79	47	.	0			c.A651G						.						89.0	86.0	87.0					9																	130206630		2203	4300	6503	SO:0001819	synonymous_variant	7633	exon5			CACTGGAGAGAAG	X65232	CCDS6871.1, CCDS69664.1, CCDS75904.1	9q34	2013-01-08	2006-05-12		ENSG00000196152	ENSG00000196152		"""Zinc fingers, C2H2-type"""	13153	protein-coding gene	gene with protein product		194552	"""zinc finger protein 79 (pT7)"""			8478004	Standard	NM_007135		Approved	pT7	uc004bqw.4	Q15937	OTTHUMG00000020703	ENST00000342483.5:c.651A>G	chr9.hg19:g.130206630A>G		109.0	0.0		66.0	4.0	NM_007135	Q5VVW1|Q96NV1	Silent	SNP	ENST00000342483.5	hg19	CCDS6871.1																																																																																			.	.		0.478	ZNF79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054188.1	NM_007135	
FAM129B	64855	hgsc.bcm.edu	37	9	130279252	130279252	+	Missense_Mutation	SNP	C	C	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr9:130279252C>A	ENST00000373312.3	-	8	1070	c.857G>T	c.(856-858)cGc>cTc	p.R286L	FAM129B_ENST00000373314.3_Missense_Mutation_p.R273L|FAM129B_ENST00000468379.1_Intron	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN	family with sequence similarity 129, member B	286					negative regulation of apoptotic process (GO:0043066)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.R286H(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						CTCCTCGAAGCGCGCCTTGGC	0.617																																					p.R286L		Atlas-SNP	.											FAM129B_ENST00000373314,NS,carcinoma,0,2	FAM129B	84	.	1	Substitution - Missense(1)	endometrium(1)	c.G857T						.						157.0	142.0	147.0					9																	130279252		2203	4300	6503	SO:0001583	missense	64855	exon8			TCGAAGCGCGCCT	AF151783	CCDS35144.1, CCDS35145.1	9q34.13	2010-02-01	2006-11-23	2006-11-23	ENSG00000136830	ENSG00000136830			25282	protein-coding gene	gene with protein product		614045	"""chromosome 9 open reading frame 88"""	C9orf88		14702039, 19362540	Standard	XM_005252135		Approved	DKFZP434H0820, FLJ13518, FLJ22151, FLJ22298, bA356B19.6, MINERVA	uc004brh.3	Q96TA1	OTTHUMG00000020705	ENST00000373312.3:c.857G>T	chr9.hg19:g.130279252C>A	ENSP00000362409:p.Arg286Leu	78.0	0.0		68.0	3.0	NM_022833	Q4LE55|Q5VVW6|Q5VVW7|Q9BUS2|Q9NT35	Missense_Mutation	SNP	ENST00000373312.3	hg19	CCDS35145.1	.	.	.	.	.	.	.	.	.	.	C	0.144	-1.099349	0.01843	.	.	ENSG00000136830	ENST00000373314;ENST00000373312	T;T	0.23147	1.92;1.92	4.87	-1.84	0.07809	.	0.626027	0.17484	N	0.172589	T	0.11922	0.0290	L	0.29908	0.895	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.34153	-0.9840	10	0.09084	T	0.74	-6.4907	4.842	0.13494	0.1702:0.2062:0.0:0.6236	.	273;286	Q96TA1-2;Q96TA1	.;NIBL1_HUMAN	L	273;286	ENSP00000362411:R273L;ENSP00000362409:R286L	ENSP00000362409:R286L	R	-	2	0	FAM129B	129319073	0.969000	0.33509	0.014000	0.15608	0.034000	0.12701	0.348000	0.20031	-0.207000	0.10187	-0.140000	0.14226	CGC	.	.		0.617	FAM129B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054196.1	NM_022833	
SPTAN1	6709	hgsc.bcm.edu	37	9	131344805	131344805	+	Silent	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr9:131344805A>G	ENST00000372731.4	+	13	1730	c.1620A>G	c.(1618-1620)gcA>gcG	p.A540A	SPTAN1_ENST00000372739.3_Silent_p.A540A|SPTAN1_ENST00000358161.5_Silent_p.A540A	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	540					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						ACCACTATGCAATGGAAGATG	0.418																																					p.A540A	NSCLC(120;833 1744 2558 35612 37579)	Atlas-SNP	.											.	SPTAN1	266	.	0			c.A1620G						.						178.0	171.0	173.0					9																	131344805		2203	4300	6503	SO:0001819	synonymous_variant	6709	exon13			CTATGCAATGGAA	M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"""EF-hand domain containing"""	11273	protein-coding gene	gene with protein product	"""alpha-fodrin"""	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.1620A>G	chr9.hg19:g.131344805A>G		138.0	0.0		93.0	4.0	NM_003127	Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Silent	SNP	ENST00000372731.4	hg19	CCDS6905.1																																																																																			.	.		0.418	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1	NM_003127	
ZER1	10444	hgsc.bcm.edu	37	9	131502396	131502396	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr9:131502396T>C	ENST00000291900.2	-	13	2262	c.1856A>G	c.(1855-1857)aAc>aGc	p.N619S		NM_006336.2	NP_006327.2	Q7Z7L7	ZER1_HUMAN	zyg-11 related, cell cycle regulator	619					protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein transferase activity (GO:0051438)	Cul2-RING ubiquitin ligase complex (GO:0031462)	ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	15						CTCCAACAGGTTGCTGCCAGG	0.557																																					p.N619S		Atlas-SNP	.											.	ZER1	49	.	0			c.A1856G						.						36.0	32.0	34.0					9																	131502396		2203	4300	6503	SO:0001583	missense	10444	exon13			AACAGGTTGCTGC	X99802	CCDS6910.1	9q33.3	2013-01-17	2012-12-10	2007-01-04	ENSG00000160445	ENSG00000160445		"""ZYG11 cell cycle regulator family"""	30960	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 60"", ""zyg-11 homolog B (C. elegans)-like"", ""zer-1 homolog (C. elegans)"""	C9orf60, ZYG11BL		11719588	Standard	NM_006336		Approved	ZYG, Hzyg	uc004bwa.2	Q7Z7L7	OTTHUMG00000020759	ENST00000291900.2:c.1856A>G	chr9.hg19:g.131502396T>C	ENSP00000291900:p.Asn619Ser	186.0	0.0		100.0	4.0	NM_006336	O00156|Q5T272|Q5T273	Missense_Mutation	SNP	ENST00000291900.2	hg19	CCDS6910.1	.	.	.	.	.	.	.	.	.	.	T	10.49	1.363733	0.24684	.	.	ENSG00000160445	ENST00000291900	T	0.63913	-0.07	4.78	4.78	0.61160	Armadillo-like helical (1);Armadillo-type fold (1);	0.236047	0.48767	D	0.000162	T	0.38295	0.1035	N	0.08118	0	0.52099	D	0.999941	B	0.14012	0.009	B	0.12837	0.008	T	0.29058	-1.0024	10	0.07325	T	0.83	-44.0297	13.6502	0.62306	0.0:0.0:0.0:1.0	.	619	Q7Z7L7	ZER1_HUMAN	S	619	ENSP00000291900:N619S	ENSP00000291900:N619S	N	-	2	0	ZER1	130542217	1.000000	0.71417	1.000000	0.80357	0.191000	0.23601	5.602000	0.67612	1.995000	0.58328	0.454000	0.30748	AAC	.	.		0.557	ZER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054491.1	NM_006336	
NUP188	23511	hgsc.bcm.edu	37	9	131750464	131750464	+	Splice_Site	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr9:131750464T>C	ENST00000372577.2	+	24	2553	c.2532T>C	c.(2530-2532)caT>caC	p.H844H		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	844					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						TCTCACAACATGGTATGTATT	0.423																																					p.H844H		Atlas-SNP	.											.	NUP188	140	.	0			c.T2532C						.						215.0	203.0	207.0					9																	131750464		2203	4300	6503	SO:0001630	splice_region_variant	23511	exon24			ACAACATGGTATG	D79991	CCDS35156.1	9q34.13	2014-01-28	2004-03-19	2004-03-24	ENSG00000095319	ENSG00000095319			17859	protein-coding gene	gene with protein product		615587	"""KIAA0169"""	KIAA0169		11029043	Standard	NM_015354		Approved		uc004bws.2	Q5SRE5	OTTHUMG00000020768	ENST00000372577.2:c.2533+1T>C	chr9.hg19:g.131750464T>C		155.0	0.0		98.0	4.0	NM_015354	Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Silent	SNP	ENST00000372577.2	hg19	CCDS35156.1																																																																																			.	.		0.423	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054529.2		Silent
IER5L	389792	hgsc.bcm.edu	37	9	131939318	131939318	+	Silent	SNP	G	G	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr9:131939318G>T	ENST00000372491.2	-	1	1222	c.1014C>A	c.(1012-1014)cgC>cgA	p.R338R	RP11-247A12.2_ENST00000372490.3_RNA|RP11-247A12.8_ENST00000599172.2_RNA	NM_203434.2	NP_982258.2	Q5T953	IER5L_HUMAN	immediate early response 5-like	338													Ovarian(14;0.0448)|Medulloblastoma(224;0.235)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)		AGTCCTCGAAGCGGGCGCGCT	0.701																																					p.R338R		Atlas-SNP	.											.	IER5L	4	.	0			c.C1014A						.						9.0	12.0	11.0					9																	131939318		1789	4039	5828	SO:0001819	synonymous_variant	389792	exon1			CTCGAAGCGGGCG	BC013070	CCDS43888.1	9q34.11	2013-09-20			ENSG00000188483	ENSG00000188483			23679	protein-coding gene	gene with protein product							Standard	NM_203434		Approved	bA247A12.2	uc010myt.1	Q5T953	OTTHUMG00000020773	ENST00000372491.2:c.1014C>A	chr9.hg19:g.131939318G>T		84.0	0.0		77.0	4.0	NM_203434	Q6P3E2	Silent	SNP	ENST00000372491.2	hg19	CCDS43888.1																																																																																			.	.		0.701	IER5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054556.2		
ABL1	25	hgsc.bcm.edu	37	9	133761037	133761037	+	Silent	SNP	G	G	T	rs148391456		TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr9:133761037G>T	ENST00000318560.5	+	11	3741	c.3360G>T	c.(3358-3360)tcG>tcT	p.S1120S		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	ABL proto-oncogene 1, non-receptor tyrosine kinase	1120	F-actin-binding.				actin cytoskeleton organization (GO:0030036)|autophagy (GO:0006914)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dopamine (GO:1903351)|cellular response to oxidative stress (GO:0034599)|DNA damage induced protein phosphorylation (GO:0006975)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mismatch repair (GO:0006298)|mitochondrial depolarization (GO:0051882)|mitotic nuclear division (GO:0007067)|muscle cell differentiation (GO:0042692)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|regulation of response to DNA damage stimulus (GO:2001020)|regulation of transcription, DNA-templated (GO:0006355)|response to oxidative stress (GO:0006979)|signal transduction in response to DNA damage (GO:0042770)	actin cytoskeleton (GO:0015629)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase binding (GO:0051019)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|SH3 domain binding (GO:0017124)|syntaxin binding (GO:0019905)			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Bosutinib(DB06616)|Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Ponatinib(DB08901)|Regorafenib(DB08896)	TCCTCAGTTCGGTGAAGGAAA	0.592			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""																																p.S1139S		Atlas-SNP	.		Dom	yes		9	9q34.1	25	v-abl Abelson murine leukemia viral oncogene homolog 1		L	.	ABL1	1632	.	0			c.G3417T						.						24.0	27.0	26.0					9																	133761037		2200	4300	6500	SO:0001819	synonymous_variant	25	exon11			CAGTTCGGTGAAG	M14752	CCDS35165.1, CCDS35166.1	9q34.1	2014-09-17	2014-06-26		ENSG00000097007	ENSG00000097007		"""SH2 domain containing"""	76	protein-coding gene	gene with protein product		189980	"""v-abl Abelson murine leukemia viral oncogene homolog 1"", ""c-abl oncogene 1, receptor tyrosine kinase"", ""c-abl oncogene 1, non-receptor tyrosine kinase"""	ABL		1857987, 12626632	Standard	NM_007313		Approved	JTK7, c-ABL, p150	uc004bzv.3	P00519	OTTHUMG00000020813	ENST00000318560.5:c.3360G>T	chr9.hg19:g.133761037G>T		121.0	0.0		76.0	4.0	NM_007313	A3KFJ3|Q13869|Q13870|Q16133|Q17R61|Q45F09	Silent	SNP	ENST00000318560.5	hg19	CCDS35166.1																																																																																			.	G|1.000;A|0.000		0.592	ABL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054684.1	NM_007313	
RAPGEF1	2889	hgsc.bcm.edu	37	9	134471699	134471699	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr9:134471699T>C	ENST00000372189.3	-	14	2240	c.2117A>G	c.(2116-2118)gAg>gGg	p.E706G	RAPGEF1_ENST00000372190.3_Missense_Mutation_p.E724G|RAPGEF1_ENST00000372195.1_Missense_Mutation_p.E723G	NM_005312.2	NP_005303.2	Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1	706	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				activation of MAPKK activity (GO:0000186)|blood vessel development (GO:0001568)|cellular response to cAMP (GO:0071320)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of Ras protein signal transduction (GO:0046580)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of neuron projection development (GO:0010976)|positive regulation of Rap GTPase activity (GO:0032854)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)	Rap guanyl-nucleotide exchange factor activity (GO:0017034)			NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		CCTGTCAGTCTCAGTAGCATG	0.597																																					p.E724G		Atlas-SNP	.											.	RAPGEF1	126	.	0			c.A2171G						.						90.0	103.0	99.0					9																	134471699		2129	4237	6366	SO:0001583	missense	2889	exon14			TCAGTCTCAGTAG	BC041710	CCDS48047.1	9q34.3	2008-02-05	2004-03-01	2004-03-02	ENSG00000107263	ENSG00000107263			4568	protein-coding gene	gene with protein product		600303	"""guanine nucleotide-releasing factor 2 (specific for crk proto-oncogene)"""	GRF2		7959692, 7512734	Standard	NM_005312		Approved	C3G	uc022bos.1	Q13905	OTTHUMG00000020829	ENST00000372189.3:c.2117A>G	chr9.hg19:g.134471699T>C	ENSP00000361263:p.Glu706Gly	162.0	0.0		113.0	5.0	NM_198679	Q5JUE4|Q8IV73	Missense_Mutation	SNP	ENST00000372189.3	hg19	CCDS48047.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.37|16.37	3.104034|3.104034	0.56291|0.56291	.|.	.|.	ENSG00000107263|ENSG00000107263	ENST00000266110;ENST00000372195;ENST00000429421;ENST00000372189;ENST00000372190;ENST00000411834;ENST00000337036;ENST00000398415;ENST00000357686|ENST00000414781	T;T;T|.	0.30981|.	1.51;1.51;1.51|.	5.57|5.57	5.57|5.57	0.84162|0.84162	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (3);|.	0.163809|.	0.53938|.	D|.	0.000047|.	T|.	0.52041|.	0.1710|.	N|N	0.22421|0.22421	0.69|0.69	0.58432|0.58432	D|D	0.999996|0.999996	B;B;B|.	0.11235|.	0.003;0.001;0.004|.	B;B;B|.	0.09377|.	0.004;0.004;0.002|.	T|.	0.49224|.	-0.8962|.	10|.	0.72032|.	D|.	0.01|.	.|.	14.9109|14.9109	0.70755|0.70755	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	723;706;724|.	Q68DL3;Q13905;Q13905-3|.	.;RPGF1_HUMAN;.|.	G|W	706;723;652;706;724;686;684;151;723|133	ENSP00000361269:E723G;ENSP00000361263:E706G;ENSP00000361264:E724G|.	ENSP00000266110:E706G|.	E|X	-|-	2|3	0|0	RAPGEF1|RAPGEF1	133461520|133461520	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.845000|0.845000	0.48019|0.48019	7.666000|7.666000	0.83877|0.83877	2.113000|2.113000	0.64589|0.64589	0.459000|0.459000	0.35465|0.35465	GAG|TGA	.	.		0.597	RAPGEF1-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054759.2	NM_005312	
SETX	23064	hgsc.bcm.edu	37	9	135204839	135204839	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr9:135204839T>C	ENST00000224140.5	-	10	2328	c.2146A>G	c.(2146-2148)Aaa>Gaa	p.K716E	SETX_ENST00000372169.2_Missense_Mutation_p.K716E|SETX_ENST00000393220.1_Missense_Mutation_p.K716E	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	716					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		GAGATCTCTTTTACAGACTTC	0.363																																					p.K716E		Atlas-SNP	.											.	SETX	234	.	0			c.A2146G						.						94.0	98.0	97.0					9																	135204839		2203	4299	6502	SO:0001583	missense	23064	exon10			TCTCTTTTACAGA	AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"""amyotrophic lateral sclerosis 4"", ""spinocerebellar ataxia, recessive, non-Friedreich type 1"""	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.2146A>G	chr9.hg19:g.135204839T>C	ENSP00000224140:p.Lys716Glu	99.0	0.0		93.0	4.0	NM_015046	A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Missense_Mutation	SNP	ENST00000224140.5	hg19	CCDS6947.1	.	.	.	.	.	.	.	.	.	.	T	11.25	1.584220	0.28268	.	.	ENSG00000107290	ENST00000224140;ENST00000372169;ENST00000393220	D;D;D	0.87103	-2.11;-2.21;-1.82	5.79	0.586	0.17434	.	2.353210	0.01295	N	0.010147	T	0.77592	0.4153	N	0.19112	0.55	0.09310	N	1	B;B;B	0.09022	0.002;0.0;0.002	B;B;B	0.09377	0.004;0.002;0.004	T	0.62144	-0.6916	10	0.27082	T	0.32	.	4.9734	0.14127	0.0:0.2675:0.154:0.5786	.	716;716;716	Q7Z333-3;Q7Z333;Q7Z333-4	.;SETX_HUMAN;.	E	716	ENSP00000224140:K716E;ENSP00000361242:K716E;ENSP00000376913:K716E	ENSP00000224140:K716E	K	-	1	0	SETX	134194660	0.000000	0.05858	0.000000	0.03702	0.097000	0.18754	0.598000	0.24074	0.472000	0.27344	0.533000	0.62120	AAA	.	.		0.363	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054774.3	NM_015046	
RPL7A	6130	hgsc.bcm.edu	37	9	136217542	136217542	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr9:136217542A>G	ENST00000323345.6	+	6	616	c.586A>G	c.(586-588)Agg>Ggg	p.R196G	SNORD36A_ENST00000362874.1_RNA|SURF1_ENST00000495952.1_5'Flank|SNORD36B_ENST00000363961.1_RNA|MED22_ENST00000344469.5_5'Flank|MED22_ENST00000491289.1_5'Flank|RPL7A_ENST00000463740.1_3'UTR|SNORD36C_ENST00000516733.1_RNA|MED22_ENST00000471524.1_5'Flank|MED22_ENST00000476080.1_5'Flank|SNORD24_ENST00000383884.1_RNA|MED22_ENST00000371999.1_5'Flank|MED22_ENST00000343730.5_5'Flank|RPL7A_ENST00000315731.4_Missense_Mutation_p.R81G	NM_000972.2	NP_000963.1	P62424	RL7A_HUMAN	ribosomal protein L7a	196					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosome biogenesis (GO:0042254)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			cervix(1)|endometrium(1)|kidney(1)|lung(3)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(145;4.93e-07)|Epithelial(140;4.09e-06)|all cancers(34;3.78e-05)		TCTAGTCCACAGGAAGACCTG	0.517																																					p.R196G		Atlas-SNP	.											.	RPL7A	9	.	0			c.A586G						.						60.0	58.0	59.0					9																	136217542		2203	4298	6501	SO:0001583	missense	6130	exon6			GTCCACAGGAAGA	BC005128	CCDS6965.1	9q34	2011-04-06			ENSG00000148303	ENSG00000148303		"""L ribosomal proteins"""	10364	protein-coding gene	gene with protein product	"""surfeit 3"", ""PLA-X polypeptide"", ""surfeit locus protein 3"", ""60S ribosomal protein L7a"", "";"", ""thyroid hormone receptor uncoupling protein"""	185640				2403926, 2966065	Standard	NM_000972		Approved	SURF3, TRUP, L7A	uc004cde.1	P62424	OTTHUMG00000020864	ENST00000323345.6:c.586A>G	chr9.hg19:g.136217542A>G	ENSP00000361076:p.Arg196Gly	107.0	0.0		78.0	4.0	NM_000972	P11518|Q5T8U4	Missense_Mutation	SNP	ENST00000323345.6	hg19	CCDS6965.1	.	.	.	.	.	.	.	.	.	.	A	16.74	3.208163	0.58343	.	.	ENSG00000148303	ENST00000323345;ENST00000315731	T;T	0.58506	0.33;0.33	5.73	3.28	0.37604	Ribosomal protein L7Ae/L30e/S12e/Gadd45 (1);	0.000000	0.85682	D	0.000000	T	0.69726	0.3143	M	0.88842	2.985	0.80722	D	1	B	0.19817	0.039	B	0.38683	0.279	T	0.69320	-0.5176	10	0.87932	D	0	.	11.8559	0.52437	0.7219:0.2781:0.0:0.0	.	196	P62424	RL7A_HUMAN	G	196;81	ENSP00000361076:R196G;ENSP00000361071:R81G	ENSP00000361071:R81G	R	+	1	2	RPL7A	135207363	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	4.469000	0.60169	0.395000	0.25257	-0.313000	0.08912	AGG	.	.		0.517	RPL7A-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054869.1	NM_000972	
SLC2A6	11182	hgsc.bcm.edu	37	9	136339170	136339170	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr9:136339170A>G	ENST00000371899.4	-	7	1045	c.968T>C	c.(967-969)cTc>cCc	p.L323P	SLC2A6_ENST00000371897.4_Missense_Mutation_p.L323P|SLC2A6_ENST00000485978.1_5'UTR	NM_017585.3	NP_060055.2	Q9UGQ3	GTR6_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 6	323					glucose transport (GO:0015758)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(145;8.47e-08)|Epithelial(140;9.37e-07)|all cancers(34;1.03e-05)		CACGGACAGGAGCCGCACGGC	0.687																																					p.L323P		Atlas-SNP	.											.	SLC2A6	31	.	0			c.T968C						.						32.0	28.0	29.0					9																	136339170		2196	4297	6493	SO:0001583	missense	11182	exon7			GACAGGAGCCGCA	AJ011372	CCDS6975.1, CCDS48052.1	9q34	2013-05-22			ENSG00000160326	ENSG00000160326		"""Solute carriers"""	11011	protein-coding gene	gene with protein product		606813				10970791	Standard	NM_001145099		Approved	GLUT9, GLUT6, HSA011372	uc004cee.3	Q9UGQ3	OTTHUMG00000020874	ENST00000371899.4:c.968T>C	chr9.hg19:g.136339170A>G	ENSP00000360966:p.Leu323Pro	143.0	0.0		95.0	4.0	NM_017585	A6NNU6|Q5SXD7|Q8NCC2	Missense_Mutation	SNP	ENST00000371899.4	hg19	CCDS6975.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.292352	0.80914	.	.	ENSG00000160326	ENST00000371897;ENST00000371899	T;T	0.75154	-0.91;-0.91	5.48	5.48	0.80851	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.87669	0.6235	M	0.87547	2.89	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.89852	0.4010	10	0.87932	D	0	.	14.7329	0.69397	1.0:0.0:0.0:0.0	.	323;323	Q9UGQ3-2;Q9UGQ3	.;GTR6_HUMAN	P	323	ENSP00000360964:L323P;ENSP00000360966:L323P	ENSP00000360964:L323P	L	-	2	0	SLC2A6	135328991	1.000000	0.71417	0.957000	0.39632	0.763000	0.43281	8.563000	0.90723	2.092000	0.63282	0.459000	0.35465	CTC	.	.		0.687	SLC2A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054909.1	NM_017585	
CAMSAP1	157922	hgsc.bcm.edu	37	9	138773507	138773507	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr9:138773507T>C	ENST00000389532.4	-	3	621	c.557A>G	c.(556-558)gAg>gGg	p.E186G	CAMSAP1_ENST00000312405.6_5'UTR|CAMSAP1_ENST00000409386.3_Missense_Mutation_p.E186G	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	186	CH.				cytoskeleton organization (GO:0007010)|neuron projection development (GO:0031175)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|spectrin binding (GO:0030507)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		CATGGCATCCTCGAGGTCGTA	0.537																																					p.E186G		Atlas-SNP	.											.	CAMSAP1	142	.	0			c.A557G						.						229.0	182.0	197.0					9																	138773507		692	1591	2283	SO:0001583	missense	157922	exon3			GCATCCTCGAGGT	AJ519841	CCDS35176.2	9q34.3	2008-02-05			ENSG00000130559	ENSG00000130559			19946	protein-coding gene	gene with protein product		613774				12477932	Standard	NM_015447		Approved	FLJ31228, DKFZp434F195	uc004cgr.4	Q5T5Y3	OTTHUMG00000020918	ENST00000389532.4:c.557A>G	chr9.hg19:g.138773507T>C	ENSP00000374183:p.Glu186Gly	174.0	0.0		99.0	4.0	NM_015447	A1L4L2|B2REB2|B2REB3|Q70W33|Q8NCY0|Q96E80|Q96FM3|Q9UFJ5	Missense_Mutation	SNP	ENST00000389532.4	hg19	CCDS35176.2	.	.	.	.	.	.	.	.	.	.	T	24.2	4.502151	0.85176	.	.	ENSG00000130559	ENST00000389532;ENST00000409386	D;T	0.96651	-4.08;1.47	5.76	5.76	0.90799	Calponin homology domain (1);	0.127583	0.51477	U	0.000090	D	0.97810	0.9281	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.98674	1.0689	10	0.87932	D	0	-26.1351	16.3544	0.83230	0.0:0.0:0.0:1.0	.	186;186	Q5T5Y3;Q5T5Y3-3	CAMP1_HUMAN;.	G	186	ENSP00000374183:E186G;ENSP00000386420:E186G	ENSP00000374183:E186G	E	-	2	0	CAMSAP1	137913328	1.000000	0.71417	0.998000	0.56505	0.510000	0.34073	7.831000	0.86748	2.319000	0.78375	0.533000	0.62120	GAG	.	.		0.537	CAMSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055024.2	XM_351857	
NACC2	138151	hgsc.bcm.edu	37	9	138905769	138905769	+	Silent	SNP	C	C	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr9:138905769C>T	ENST00000371753.1	-	3	1156	c.1098G>A	c.(1096-1098)ctG>ctA	p.L366L	NACC2_ENST00000277554.2_Silent_p.L366L|NACC2_ENST00000467669.1_5'Flank			Q96BF6	NACC2_HUMAN	NACC family member 2, BEN and BTB (POZ) domain containing	366	BEN. {ECO:0000255|PROSITE- ProRule:PRU00784}.				cellular protein complex localization (GO:0034629)|histone deacetylation (GO:0016575)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle by negative regulation of transcription from RNA polymerase II promoter (GO:1900477)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|posttranscriptional regulation of gene expression (GO:0010608)|protein homooligomerization (GO:0051260)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)			endometrium(2)|kidney(1)|lung(1)|urinary_tract(1)	5						CCCCTGCACACAGGTGGCAGT	0.617																																					p.L366L		Atlas-SNP	.											.	NACC2	16	.	0			c.G1098A						.						64.0	47.0	53.0					9																	138905769		2202	4300	6502	SO:0001819	synonymous_variant	138151	exon4			TGCACACAGGTGG	BC015649	CCDS6993.1	9q34.3	2013-01-09	2008-10-03	2008-10-03	ENSG00000148411	ENSG00000148411		"""BEN domain containing"", ""BTB/POZ domain containing"""	23846	protein-coding gene	gene with protein product	"""BEN domain containing 9"""	615786	"""BTB (POZ) domain containing 14A"""	BTBD14A		12477932	Standard	NM_144653		Approved	MGC23427, BEND9, BTBD31	uc004cgv.4	Q96BF6	OTTHUMG00000020921	ENST00000371753.1:c.1098G>A	chr9.hg19:g.138905769C>T		93.0	0.0		72.0	4.0	NM_144653		Silent	SNP	ENST00000371753.1	hg19	CCDS6993.1																																																																																			.	.		0.617	NACC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055040.1	NM_144653	
INPP5E	56623	hgsc.bcm.edu	37	9	139327478	139327478	+	Silent	SNP	G	G	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr9:139327478G>A	ENST00000371712.3	-	5	1611	c.1209C>T	c.(1207-1209)acC>acT	p.T403T		NM_019892.4	NP_063945.2	Q10713	MPPA_HUMAN	inositol polyphosphate-5-phosphatase, 72 kDa	0					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			NS(1)|endometrium(1)|lung(4)|skin(3)	9		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.36e-06)|Epithelial(140;1.4e-05)		AGGCCCCCTTGGTCTTGATCT	0.597																																					p.T403T		Atlas-SNP	.											.	INPP5E	18	.	0			c.C1209T						.						188.0	169.0	175.0					9																	139327478		2200	4300	6500	SO:0001819	synonymous_variant	56623	exon5			CCCCTTGGTCTTG	AF187891	CCDS7000.1	9q34.3	2011-02-11			ENSG00000148384	ENSG00000148384			21474	protein-coding gene	gene with protein product		613037	"""Joubert syndrome 1"""	JBTS1		10764818, 10577920, 19668216	Standard	NM_019892		Approved	PPI5PIV, CORS1	uc004cho.3	Q9NRR6	OTTHUMG00000020927	ENST00000371712.3:c.1209C>T	chr9.hg19:g.139327478G>A		206.0	0.0		115.0	5.0	NM_019892	B4DKL3|E7ET61|Q16639|Q5SXM9|Q8N513	Silent	SNP	ENST00000371712.3	hg19	CCDS7000.1																																																																																			.	.		0.597	INPP5E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055058.1	NM_019892	
ANAPC2	29882	hgsc.bcm.edu	37	9	140082406	140082406	+	Silent	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr9:140082406A>G	ENST00000323927.2	-	2	271	c.267T>C	c.(265-267)ccT>ccC	p.P89P	SSNA1_ENST00000322310.5_5'Flank	NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	anaphase promoting complex subunit 2	89					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		TCCAGAACTCAGGGGAGATGT	0.617																																					p.P89P		Atlas-SNP	.											.	ANAPC2	57	.	0			c.T267C						.						84.0	87.0	86.0					9																	140082406		2203	4300	6503	SO:0001819	synonymous_variant	29882	exon2			GAACTCAGGGGAG	AB037827	CCDS7033.1	9q34.3	2011-06-15			ENSG00000176248	ENSG00000176248		"""Anaphase promoting complex subunits"""	19989	protein-coding gene	gene with protein product		606946				11739784	Standard	NM_013366		Approved	APC2, KIAA1406	uc004clr.1	Q9UJX6	OTTHUMG00000020983	ENST00000323927.2:c.267T>C	chr9.hg19:g.140082406A>G		166.0	0.0		98.0	4.0	NM_013366	Q5VSG1|Q96DG5|Q96GG4|Q9P2E1	Silent	SNP	ENST00000323927.2	hg19	CCDS7033.1																																																																																			.	.		0.617	ANAPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055315.1	NM_013366	
CACNA1B	774	hgsc.bcm.edu	37	9	140777329	140777329	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr9:140777329T>C	ENST00000371372.1	+	3	669	c.524T>C	c.(523-525)cTc>cCc	p.L175P	CACNA1B_ENST00000371355.4_Missense_Mutation_p.L175P|CACNA1B_ENST00000371363.1_Missense_Mutation_p.L175P|CACNA1B_ENST00000277551.2_Missense_Mutation_p.L175P|RP11-188C12.3_ENST00000371390.1_RNA|CACNA1B_ENST00000371357.1_Missense_Mutation_p.L175P|CACNA1B_ENST00000277549.5_5'UTR	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	175					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	GTGGTCGTCCTCACAGGGTAG	0.617																																					p.L175P		Atlas-SNP	.											.	CACNA1B	266	.	0			c.T524C						.						164.0	177.0	173.0					9																	140777329		2132	4252	6384	SO:0001583	missense	774	exon3			TCGTCCTCACAGG	AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.524T>C	chr9.hg19:g.140777329T>C	ENSP00000360423:p.Leu175Pro	155.0	0.0		65.0	4.0	NM_001243812	B1AQK5	Missense_Mutation	SNP	ENST00000371372.1	hg19	CCDS59522.1	.	.	.	.	.	.	.	.	.	.	T	16.44	3.124015	0.56613	.	.	ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000371363;ENST00000371357;ENST00000371355	D;D;D;D;D	0.98926	-5.24;-5.24;-5.24;-5.24;-5.24	4.57	4.57	0.56435	.	0.000000	0.64402	D	0.000009	D	0.99187	0.9718	M	0.90309	3.105	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.99271	1.0893	10	0.72032	D	0.01	.	13.9392	0.64043	0.0:0.0:0.0:1.0	.	175	B1AQK6	.	P	175	ENSP00000360423:L175P;ENSP00000277551:L175P;ENSP00000360414:L175P;ENSP00000360408:L175P;ENSP00000360406:L175P	ENSP00000277551:L175P	L	+	2	0	CACNA1B	139897150	1.000000	0.71417	1.000000	0.80357	0.529000	0.34654	7.854000	0.86942	1.684000	0.51022	0.383000	0.25322	CTC	.	.		0.617	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718	
PFKFB3	5209	hgsc.bcm.edu	37	10	6258145	6258145	+	Silent	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr10:6258145A>G	ENST00000379775.4	+	4	687	c.357A>G	c.(355-357)ggA>ggG	p.G119G	PFKFB3_ENST00000536985.1_Silent_p.G99G|PFKFB3_ENST00000379785.1_Silent_p.G119G|PFKFB3_ENST00000540253.1_Silent_p.G133G|PFKFB3_ENST00000360521.2_Silent_p.G119G|PFKFB3_ENST00000379789.4_Silent_p.G99G|PFKFB3_ENST00000379782.3_Silent_p.G119G|PFKFB3_ENST00000317350.4_Silent_p.G119G	NM_004566.3	NP_004557.1	Q16875	F263_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3	119	6-phosphofructo-2-kinase.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|liver(2)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)	22						AAGAAGGGGGACAAATTGCGG	0.577																																					p.G119G		Atlas-SNP	.											.	PFKFB3	82	.	0			c.A357G						.						155.0	128.0	137.0					10																	6258145		2203	4300	6503	SO:0001819	synonymous_variant	5209	exon4			AGGGGGACAAATT		CCDS7078.1, CCDS44353.1, CCDS60479.1	10p15.1	2008-05-14			ENSG00000170525	ENSG00000170525			8874	protein-coding gene	gene with protein product		605319				9146922, 10072580	Standard	NM_004566		Approved		uc001ije.3	Q16875	OTTHUMG00000017621	ENST00000379775.4:c.357A>G	chr10.hg19:g.6258145A>G		67.0	0.0		60.0	4.0	NM_004566	B7Z955|O43622|O75902|Q5VX15|Q5VX18|Q5VX19	Silent	SNP	ENST00000379775.4	hg19	CCDS7078.1																																																																																			.	.		0.577	PFKFB3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046647.1		
SFMBT2	57713	hgsc.bcm.edu	37	10	7247790	7247790	+	Silent	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr10:7247790T>C	ENST00000361972.4	-	12	1521	c.1431A>G	c.(1429-1431)ccA>ccG	p.P477P	SFMBT2_ENST00000397167.1_Silent_p.P477P	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	477					negative regulation of gene expression (GO:0010629)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	histone binding (GO:0042393)			NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						CTGTTTTGTGTGGTGCAGTCA	0.463																																					p.P477P		Atlas-SNP	.											.	SFMBT2	209	.	0			c.A1431G						.						108.0	96.0	100.0					10																	7247790		2203	4300	6503	SO:0001819	synonymous_variant	57713	exon12			TTTGTGTGGTGCA	AB046837	CCDS31138.1	10p15.1	2013-01-10	2003-11-14		ENSG00000198879	ENSG00000198879		"""Sterile alpha motif (SAM) domain containing"""	20256	protein-coding gene	gene with protein product		615392	"""Scm-related gene containing four mbt domains 2"""			10997877	Standard	NM_001029880		Approved	KIAA1617	uc009xio.2	Q5VUG0	OTTHUMG00000017630	ENST00000361972.4:c.1431A>G	chr10.hg19:g.7247790T>C		189.0	0.0		107.0	5.0	NM_001029880	A7MD09|Q9HCF5	Silent	SNP	ENST00000361972.4	hg19	CCDS31138.1																																																																																			.	.		0.463	SFMBT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046673.1	NM_001029880	
DHTKD1	55526	hgsc.bcm.edu	37	10	12160885	12160885	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr10:12160885A>G	ENST00000263035.4	+	15	2602	c.2540A>G	c.(2539-2541)cAg>cGg	p.Q847R	U6_ENST00000606801.1_RNA	NM_018706.5	NP_061176	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	847					cell death (GO:0008219)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hematopoietic progenitor cell differentiation (GO:0002244)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			GATTCTTTACAGCAAGAGATG	0.428																																					p.Q847R		Atlas-SNP	.											.	DHTKD1	104	.	0			c.A2540G						.						137.0	133.0	134.0					10																	12160885		2203	4300	6503	SO:0001583	missense	55526	exon15			CTTTACAGCAAGA	BC002477	CCDS7087.1	10p14	2003-11-24			ENSG00000181192	ENSG00000181192			23537	protein-coding gene	gene with protein product		614984				10997877	Standard	NM_018706		Approved	KIAA1630, MGC3090, DKFZP762M115	uc001ild.5	Q96HY7	OTTHUMG00000017677	ENST00000263035.4:c.2540A>G	chr10.hg19:g.12160885A>G	ENSP00000263035:p.Gln847Arg	106.0	0.0		74.0	4.0	NM_018706	Q68CU5|Q9BUM8|Q9HCE2	Missense_Mutation	SNP	ENST00000263035.4	hg19	CCDS7087.1	.	.	.	.	.	.	.	.	.	.	A	13.27	2.187218	0.38609	.	.	ENSG00000181192	ENST00000263035	T	0.04758	3.56	5.09	3.95	0.45737	.	0.000000	0.85682	D	0.000000	T	0.04272	0.0118	N	0.20574	0.59	0.58432	D	0.999999	B	0.12013	0.005	B	0.22880	0.042	T	0.40794	-0.9544	10	0.59425	D	0.04	-6.0727	10.788	0.46415	0.9246:0.0:0.0754:0.0	.	847	Q96HY7	DHTK1_HUMAN	R	847	ENSP00000263035:Q847R	ENSP00000263035:Q847R	Q	+	2	0	DHTKD1	12200891	1.000000	0.71417	0.125000	0.21846	0.905000	0.53344	8.867000	0.92314	0.889000	0.36185	0.379000	0.24179	CAG	.	.		0.428	DHTKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046777.1	NM_018706	
SPAG6	9576	hgsc.bcm.edu	37	10	22680689	22680689	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr10:22680689A>G	ENST00000376624.3	+	8	1179	c.1037A>G	c.(1036-1038)gAa>gGa	p.E346G	SPAG6_ENST00000376603.2_Missense_Mutation_p.E422G|RP11-301N24.3_ENST00000422675.1_RNA|SPAG6_ENST00000538630.1_Missense_Mutation_p.E321G|SPAG6_ENST00000376601.1_Missense_Mutation_p.E107G|SPAG6_ENST00000313311.6_Missense_Mutation_p.E346G	NM_001253855.1|NM_012443.3	NP_001240784.1|NP_036575.1	O75602	SPAG6_HUMAN	sperm associated antigen 6	346					cell projection organization (GO:0030030)|spermatid development (GO:0007286)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|motile cilium (GO:0031514)|nucleus (GO:0005634)				breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2)	27						TGCTTGTCAGAAGAACCGGAA	0.483																																					p.E346G		Atlas-SNP	.											.	SPAG6	90	.	0			c.A1037G						.						101.0	97.0	99.0					10																	22680689		2203	4300	6503	SO:0001583	missense	9576	exon8			TGTCAGAAGAACC	AF079363	CCDS7139.1, CCDS7140.1, CCDS58071.1, CCDS73072.1	10p12.31	2014-01-21			ENSG00000077327	ENSG00000077327		"""Armadillo repeat containing"""	11215	protein-coding gene	gene with protein product	"""axoneme central apparatus protein"""	605730				10493827	Standard	NM_012443		Approved	Repro-SA-1, pf16, CT141	uc001iri.3	O75602	OTTHUMG00000017808	ENST00000376624.3:c.1037A>G	chr10.hg19:g.22680689A>G	ENSP00000365811:p.Glu346Gly	105.0	0.0		72.0	4.0	NM_172242	A8K1I8|B4DXZ4|Q5VUX5|Q5VUX6|Q5VUX7|Q6FI74|Q8NHQ6	Missense_Mutation	SNP	ENST00000376624.3	hg19	CCDS7139.1	.	.	.	.	.	.	.	.	.	.	A	18.40	3.616323	0.66672	.	.	ENSG00000077327	ENST00000376624;ENST00000376603;ENST00000376601;ENST00000538630;ENST00000456231;ENST00000313311	T;T;T;T;T;T	0.65178	-0.14;-0.14;0.67;-0.14;0.67;-0.14	5.56	5.56	0.83823	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.63768	0.2539	M	0.72479	2.2	0.80722	D	1	B;B;B;B	0.23249	0.082;0.033;0.037;0.046	B;B;B;B	0.25291	0.038;0.059;0.022;0.056	T	0.61879	-0.6972	10	0.41790	T	0.15	-32.8842	15.7155	0.77663	1.0:0.0:0.0:0.0	.	321;422;346;346	B4DXZ4;O75602-3;O75602-2;O75602	.;.;.;SPAG6_HUMAN	G	346;422;107;321;107;346	ENSP00000365811:E346G;ENSP00000365788:E422G;ENSP00000365786:E107G;ENSP00000441325:E321G;ENSP00000411111:E107G;ENSP00000323599:E346G	ENSP00000323599:E346G	E	+	2	0	SPAG6	22720695	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.806000	0.91930	2.105000	0.64084	0.477000	0.44152	GAA	.	.		0.483	SPAG6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047187.1		
GPR158	57512	hgsc.bcm.edu	37	10	25887786	25887786	+	Missense_Mutation	SNP	A	A	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr10:25887786A>T	ENST00000376351.3	+	11	3590	c.3231A>T	c.(3229-3231)caA>caT	p.Q1077H	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	1077					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						GGGAGAGCCAAGGCCAGTCCA	0.493																																					p.Q1077H		Atlas-SNP	.											.	GPR158	255	.	0			c.A3231T						.						96.0	99.0	98.0					10																	25887786		2203	4300	6503	SO:0001583	missense	57512	exon11			GAGCCAAGGCCAG	AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"""GPCR / Class C : Orphans"""	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.3231A>T	chr10.hg19:g.25887786A>T	ENSP00000365529:p.Gln1077His	175.0	0.0		108.0	5.0	NM_020752	Q6QR81|Q9ULT3	Missense_Mutation	SNP	ENST00000376351.3	hg19	CCDS31166.1	.	.	.	.	.	.	.	.	.	.	A	1.238	-0.622268	0.03636	.	.	ENSG00000151025	ENST00000376351	T	0.31247	1.5	5.37	-1.53	0.08611	.	0.406158	0.25704	N	0.028849	T	0.14700	0.0355	N	0.17082	0.46	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.10268	-1.0637	10	0.44086	T	0.13	.	6.5048	0.22188	0.6473:0.1207:0.2319:0.0	.	1077	Q5T848	GP158_HUMAN	H	1077	ENSP00000365529:Q1077H	ENSP00000365529:Q1077H	Q	+	3	2	GPR158	25927792	1.000000	0.71417	0.001000	0.08648	0.004000	0.04260	3.038000	0.49783	-0.564000	0.06070	-0.408000	0.06270	CAA	.	.		0.493	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110	
SYT15	83849	hgsc.bcm.edu	37	10	46968621	46968621	+	Silent	SNP	C	C	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr10:46968621C>T	ENST00000374321.4	-	3	381	c.315G>A	c.(313-315)ccG>ccA	p.P105P	RP11-38L15.3_ENST00000506914.1_RNA|SYT15_ENST00000503753.1_Silent_p.P105P|SYT15_ENST00000374325.3_Silent_p.P105P|SYT15_ENST00000374323.4_Silent_p.P158P	NM_031912.4	NP_114118.2	Q9BQS2	SYT15_HUMAN	synaptotagmin XV	105						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P105P(2)|p.P157P(1)		cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						GCTCTGATGCCGGGCAGGGGT	0.672																																					p.P105P	Ovarian(57;1152 1428 19651 37745)	Atlas-SNP	.											SYT15_ENST00000374321,NS,carcinoma,0,2	SYT15	165	.	3	Substitution - coding silent(3)	endometrium(3)	c.G315A						.																																			SO:0001819	synonymous_variant	83849	exon3			TGATGCCGGGCAG	AJ303363	CCDS73103.1, CCDS73104.1	10q11.1	2013-01-21			ENSG00000204176	ENSG00000204176		"""Synaptotagmins"""	17167	protein-coding gene	gene with protein product		608081				11543631	Standard	NM_031912		Approved	CHR10SYT	uc001jea.3	Q9BQS2	OTTHUMG00000018103	ENST00000374321.4:c.315G>A	chr10.hg19:g.46968621C>T		40.0	0.0		43.0	3.0	NM_031912	A5D6W8|Q5VY53|Q5VY55|Q7Z439|Q7Z440	Silent	SNP	ENST00000374321.4	hg19	CCDS44376.1																																																																																			.	.		0.672	SYT15-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367008.1	NM_031912	
DKK1	22943	hgsc.bcm.edu	37	10	54074421	54074421	+	Missense_Mutation	SNP	C	C	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr10:54074421C>A	ENST00000373970.3	+	1	366	c.227C>A	c.(226-228)aCc>aAc	p.T76N	PRKG1-AS1_ENST00000420193.1_RNA	NM_012242.2	NP_036374.1	O94907	DKK1_HUMAN	dickkopf WNT signaling pathway inhibitor 1	76					cell morphogenesis involved in differentiation (GO:0000904)|embryonic limb morphogenesis (GO:0030326)|endoderm formation (GO:0001706)|extracellular negative regulation of signal transduction (GO:1900116)|face morphogenesis (GO:0060325)|forebrain development (GO:0030900)|hair follicle development (GO:0001942)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:1901296)|negative regulation of cardiac muscle cell differentiation (GO:2000726)|negative regulation of mesodermal cell fate specification (GO:0042662)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of heart induction by negative regulation of canonical Wnt signaling pathway (GO:0090082)|regulation of endodermal cell fate specification (GO:0042663)|regulation of receptor internalization (GO:0002090)|response to retinoic acid (GO:0032526)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	extracellular space (GO:0005615)|plasma membrane (GO:0005886)	growth factor activity (GO:0008083)|low-density lipoprotein particle receptor binding (GO:0050750)|receptor antagonist activity (GO:0048019)|signal transducer activity (GO:0004871)			kidney(2)|large_intestine(4)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	16						AAGTACCAGACCATTGACAAC	0.622											OREG0020191	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.T76N		Atlas-SNP	.											.	DKK1	35	.	0			c.C227A						.						26.0	30.0	29.0					10																	54074421		2202	4297	6499	SO:0001583	missense	22943	exon1			ACCAGACCATTGA		CCDS7246.1	10q11.2	2013-05-15	2013-05-15		ENSG00000107984	ENSG00000107984			2891	protein-coding gene	gene with protein product		605189	"""dickkopf (Xenopus laevis) homolog 1"", ""dickkopf 1 homolog (Xenopus laevis)"""				Standard	NM_012242		Approved	SK, DKK-1	uc001jjr.3	O94907	OTTHUMG00000018247	ENST00000373970.3:c.227C>A	chr10.hg19:g.54074421C>A	ENSP00000363081:p.Thr76Asn	117.0	0.0	997	52.0	4.0	NM_012242	B2RC19	Missense_Mutation	SNP	ENST00000373970.3	hg19	CCDS7246.1	.	.	.	.	.	.	.	.	.	.	C	6.446	0.450341	0.12223	.	.	ENSG00000107984	ENST00000373970	T	0.44083	0.93	4.49	3.57	0.40892	.	0.767169	0.11791	N	0.529223	T	0.29158	0.0725	N	0.24115	0.695	0.09310	N	1	B	0.16802	0.019	B	0.17098	0.017	T	0.18871	-1.0323	10	0.24483	T	0.36	-12.0254	10.7985	0.46474	0.0:0.8076:0.1924:0.0	.	76	O94907	DKK1_HUMAN	N	76	ENSP00000363081:T76N	ENSP00000363081:T76N	T	+	2	0	DKK1	53744427	0.001000	0.12720	0.251000	0.24312	0.555000	0.35460	0.784000	0.26816	0.992000	0.38840	0.655000	0.94253	ACC	.	.		0.622	DKK1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048100.1		
ZNF365	22891	hgsc.bcm.edu	37	10	64415380	64415380	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr10:64415380T>C	ENST00000395251.1	+	4	714	c.380T>C	c.(379-381)gTt>gCt	p.V127A	ZNF365_ENST00000410046.3_Intron|ZNF365_ENST00000395249.1_Intron|AC067751.1_ENST00000579246.1_RNA	NM_199452.3	NP_955524	Q70YC4	TALAN_HUMAN	zinc finger protein 365	127										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					TATGCAGGAGTTTCAATTCAA	0.498																																					p.V127A		Atlas-SNP	.											.	ZNF365	174	.	0			c.T380C						.						75.0	68.0	71.0					10																	64415380		2203	4300	6503	SO:0001583	missense	22891	exon4			CAGGAGTTTCAAT	AB020651	CCDS7264.1, CCDS7265.1, CCDS31209.1, CCDS41531.1	10q21.2	2008-10-28			ENSG00000138311	ENSG00000138311		"""Zinc fingers, C2H2-type"""	18194	protein-coding gene	gene with protein product	"""Talanin"""	607818				10048485, 12740763	Standard	NM_199450		Approved	KIAA0844, UAN	uc001jmc.2	Q70YC4	OTTHUMG00000018302	ENST00000395251.1:c.380T>C	chr10.hg19:g.64415380T>C	ENSP00000378672:p.Val127Ala	42.0	0.0		34.0	4.0	NM_199452		Missense_Mutation	SNP	ENST00000395251.1	hg19	CCDS7265.1	.	.	.	.	.	.	.	.	.	.	T	12.23	1.874394	0.33069	.	.	ENSG00000138311	ENST00000395251	T	0.54866	0.55	5.49	4.36	0.52297	.	.	.	.	.	T	0.32704	0.0838	N	0.08118	0	0.80722	D	1	P	0.41393	0.748	B	0.42555	0.391	T	0.10753	-1.0616	9	0.40728	T	0.16	.	7.4638	0.27310	0.0:0.0996:0.0:0.9004	.	127	Q70YC4	TALAN_HUMAN	A	127	ENSP00000378672:V127A	ENSP00000378672:V127A	V	+	2	0	ZNF365	64085386	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.221000	0.42917	0.919000	0.36945	0.482000	0.46254	GTT	.	.		0.498	ZNF365-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277036.1	NM_014951	
EIF4EBP2	1979	hgsc.bcm.edu	37	10	72164180	72164180	+	Missense_Mutation	SNP	G	G	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr10:72164180G>T	ENST00000373218.4	+	1	46	c.23G>T	c.(22-24)gGc>gTc	p.G8V		NM_004096.4	NP_004087.1	Q13542	4EBP2_HUMAN	eukaryotic translation initiation factor 4E binding protein 2	8					cAMP-mediated signaling (GO:0019933)|insulin receptor signaling pathway (GO:0008286)|negative regulation of translational initiation (GO:0045947)|translation (GO:0006412)					large_intestine(1)	1						GCCGGCAGCGGCCACCAGCCC	0.751																																					p.G8V		Atlas-SNP	.											.	EIF4EBP2	7	.	0			c.G23T						.						11.0	11.0	11.0					10																	72164180		2131	4240	6371	SO:0001583	missense	1979	exon1			GCAGCGGCCACCA		CCDS7303.1	10q21-q22	2008-08-01			ENSG00000148730	ENSG00000148730			3289	protein-coding gene	gene with protein product		602224				7935836, 8975712	Standard	NM_004096		Approved		uc001jrb.3	Q13542	OTTHUMG00000018409	ENST00000373218.4:c.23G>T	chr10.hg19:g.72164180G>T	ENSP00000362314:p.Gly8Val	70.0	0.0		78.0	4.0	NM_004096		Missense_Mutation	SNP	ENST00000373218.4	hg19	CCDS7303.1	.	.	.	.	.	.	.	.	.	.	G	17.81	3.481767	0.63849	.	.	ENSG00000148730	ENST00000373218	.	.	.	3.92	3.01	0.34805	.	0.247007	0.40064	N	0.001191	T	0.42131	0.1189	N	0.22421	0.69	0.58432	D	0.999993	B	0.24963	0.115	B	0.28553	0.091	T	0.27365	-1.0076	9	0.36615	T	0.2	-3.5238	10.7401	0.46147	0.0982:0.0:0.9018:0.0	.	8	Q13542	4EBP2_HUMAN	V	8	.	ENSP00000362314:G8V	G	+	2	0	EIF4EBP2	71834186	1.000000	0.71417	0.937000	0.37676	0.888000	0.51559	6.160000	0.71862	0.965000	0.38133	0.563000	0.77884	GGC	.	.		0.751	EIF4EBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048513.1	NM_004096	
C10orf54	64115	hgsc.bcm.edu	37	10	73511520	73511520	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr10:73511520T>C	ENST00000394957.3	-	6	861	c.803A>G	c.(802-804)cAg>cGg	p.Q268R	CDH23_ENST00000224721.6_Intron	NM_022153.1	NP_071436.1	Q9H7M9	GI24_HUMAN	chromosome 10 open reading frame 54	268					BMP signaling pathway (GO:0030509)|negative regulation of CD4-positive, alpha-beta T cell proliferation (GO:2000562)|negative regulation of T cell cytokine production (GO:0002725)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of stem cell differentiation (GO:2000738)|stem cell differentiation (GO:0048863)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	9						AGGCTGCCGCTGGGCCACATA	0.622																																					p.Q268R		Atlas-SNP	.											.	C10orf54	29	.	0			c.A803G						.						41.0	45.0	44.0					10																	73511520		2203	4300	6503	SO:0001583	missense	64115	exon6			TGCCGCTGGGCCA	AF193048	CCDS31218.1	10q22.1	2013-11-28			ENSG00000107738	ENSG00000107738		"""Immunoglobulin superfamily / V-set domain containing"""	30085	protein-coding gene	gene with protein product	"""stress induced secreted protein 1"""	615608				12975309	Standard	NM_022153		Approved	SISP1, GI24, B7-H5, B7H5	uc001jsd.3	Q9H7M9	OTTHUMG00000018426	ENST00000394957.3:c.803A>G	chr10.hg19:g.73511520T>C	ENSP00000378409:p.Gln268Arg	88.0	0.0		76.0	4.0	NM_022153	A1L0X9|A4ZYV1|A8MVH5|Q6UXF3|Q8WUG3|Q8WYZ8	Missense_Mutation	SNP	ENST00000394957.3	hg19	CCDS31218.1	.	.	.	.	.	.	.	.	.	.	T	12.24	1.878960	0.33162	.	.	ENSG00000107738	ENST00000394957;ENST00000263569	T	0.43688	0.94	6.08	2.55	0.30701	.	0.499782	0.23284	N	0.049877	T	0.32376	0.0827	L	0.46157	1.445	0.26269	N	0.978458	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.24190	-1.0167	10	0.51188	T	0.08	.	6.8437	0.23977	0.0:0.4254:0.0:0.5746	.	268;268	A4ZYV1;Q9H7M9	.;GI24_HUMAN	R	268;264	ENSP00000378409:Q268R	ENSP00000263569:Q264R	Q	-	2	0	C10orf54	73181526	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	1.555000	0.36277	0.542000	0.28846	0.533000	0.62120	CAG	.	.		0.622	C10orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048548.1	NM_022153	
ANXA7	310	hgsc.bcm.edu	37	10	75156931	75156931	+	Missense_Mutation	SNP	G	G	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr10:75156931G>T	ENST00000372921.5	-	4	417	c.361C>A	c.(361-363)Cca>Aca	p.P121T	ANXA7_ENST00000535178.1_Intron|ANXA7_ENST00000492380.1_5'UTR	NM_001156.3	NP_001147.1	P20073	ANXA7_HUMAN	annexin A7	121	Repeat-rich region.				autophagy (GO:0006914)|cell proliferation (GO:0008283)|cellular calcium ion homeostasis (GO:0006874)|cellular water homeostasis (GO:0009992)|epithelial cell differentiation (GO:0030855)|hemostasis (GO:0007599)|membrane fusion (GO:0061025)|negative regulation of gene expression (GO:0010629)|regulation of cell shape (GO:0008360)|response to calcium ion (GO:0051592)|response to organic cyclic compound (GO:0014070)|response to salt stress (GO:0009651)|social behavior (GO:0035176)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|integrin binding (GO:0005178)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	26	Prostate(51;0.0119)					CCAGGTAGTGGAACCTGTGCT	0.448																																					p.P121T		Atlas-SNP	.											.	ANXA7	50	.	0			c.C361A						.						62.0	53.0	56.0					10																	75156931		2203	4300	6503	SO:0001583	missense	310	exon4			GTAGTGGAACCTG	J04543	CCDS7325.1, CCDS7326.1	10q22.2	2005-11-09			ENSG00000138279	ENSG00000138279		"""Annexins"""	545	protein-coding gene	gene with protein product		186360		ANX7		7515686	Standard	NM_001156		Approved		uc001jtz.2	P20073	OTTHUMG00000018463	ENST00000372921.5:c.361C>A	chr10.hg19:g.75156931G>T	ENSP00000362012:p.Pro121Thr	61.0	0.0		56.0	4.0	NM_004034	Q5F2H3|Q5T0M6|Q5T0M7	Missense_Mutation	SNP	ENST00000372921.5	hg19	CCDS7325.1	.	.	.	.	.	.	.	.	.	.	G	13.84	2.358219	0.41801	.	.	ENSG00000138279	ENST00000372921;ENST00000372919;ENST00000394847	T;T	0.02552	4.25;4.43	5.48	4.57	0.56435	.	1.044460	0.07552	N	0.915625	T	0.08670	0.0215	L	0.32530	0.975	0.80722	D	1	P;D;P	0.69078	0.917;0.997;0.935	P;P;P	0.61397	0.529;0.888;0.476	T	0.26121	-1.0112	10	0.45353	T	0.12	.	12.5497	0.56220	0.0817:0.0:0.9183:0.0	.	48;121;121	B4DWU2;P20073-2;P20073	.;.;ANXA7_HUMAN	T	121	ENSP00000362012:P121T;ENSP00000362010:P121T	ENSP00000362010:P121T	P	-	1	0	ANXA7	74826937	1.000000	0.71417	0.974000	0.42286	0.031000	0.12232	5.304000	0.65744	1.452000	0.47756	-0.300000	0.09419	CCA	.	.		0.448	ANXA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048646.2	NM_001156	
KAT6B	23522	hgsc.bcm.edu	37	10	76739019	76739019	+	Missense_Mutation	SNP	G	G	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr10:76739019G>A	ENST00000287239.4	+	10	2642	c.2153G>A	c.(2152-2154)cGg>cAg	p.R718Q	KAT6B_ENST00000372714.1_Missense_Mutation_p.R426Q|KAT6B_ENST00000372724.1_Missense_Mutation_p.R426Q|KAT6B_ENST00000372711.1_Missense_Mutation_p.R535Q|KAT6B_ENST00000490365.1_3'UTR|KAT6B_ENST00000372725.1_Missense_Mutation_p.R426Q	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	718	Catalytic.|MYST-type HAT.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										GACTGTGGCCGGTACCCTTCT	0.388																																					p.R718Q		Atlas-SNP	.											.	.	.	.	0			c.G2153A						.						103.0	101.0	102.0					10																	76739019		2203	4300	6503	SO:0001583	missense	23522	exon10			GTGGCCGGTACCC	AF113514	CCDS7345.1, CCDS58084.1, CCDS58085.1	10q22.2	2013-01-28	2011-07-21	2011-07-21	ENSG00000156650	ENSG00000156650		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	17582	protein-coding gene	gene with protein product	"""MOZ-related factor"""	605880	"""MYST histone acetyltransferase (monocytic leukemia) 4"""	MYST4		9205841, 10497217	Standard	NM_012330		Approved	querkopf, qkf, Morf, MOZ2, ZC2HC6B	uc001jwn.2	Q8WYB5	OTTHUMG00000018509	ENST00000287239.4:c.2153G>A	chr10.hg19:g.76739019G>A	ENSP00000287239:p.Arg718Gln	143.0	0.0		85.0	4.0	NM_012330	O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Missense_Mutation	SNP	ENST00000287239.4	hg19	CCDS7345.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.007120	0.75046	.	.	ENSG00000156650	ENST00000372725;ENST00000372724;ENST00000287239;ENST00000372714;ENST00000372711	T;T;T;T;T	0.80214	-1.28;-1.28;-1.35;-1.28;-1.34	5.98	5.98	0.97165	.	0.000000	0.45361	D	0.000366	D	0.83695	0.5310	L	0.41492	1.28	0.58432	D	0.999991	D;D;P	0.57571	0.98;0.973;0.825	P;B;B	0.54431	0.752;0.314;0.245	D	0.83850	0.0262	10	0.59425	D	0.04	-11.3167	20.4293	0.99080	0.0:0.0:1.0:0.0	.	535;426;718	Q8WYB5-2;Q8WYB5-3;Q8WYB5	.;.;KAT6B_HUMAN	Q	426;426;718;426;535	ENSP00000361810:R426Q;ENSP00000361809:R426Q;ENSP00000287239:R718Q;ENSP00000361799:R426Q;ENSP00000361796:R535Q	ENSP00000287239:R718Q	R	+	2	0	KAT6B	76409025	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.154000	0.71826	2.833000	0.97629	0.655000	0.94253	CGG	.	.		0.388	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048771.1	NM_012330	
CDHR1	92211	hgsc.bcm.edu	37	10	85968520	85968520	+	Silent	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr10:85968520A>G	ENST00000372117.3	+	12	1306	c.1203A>G	c.(1201-1203)ggA>ggG	p.G401G	CDHR1_ENST00000440770.2_Silent_p.G160G|CDHR1_ENST00000332904.3_Silent_p.G401G	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	401	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cellular process (GO:0009987)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						AGCTGGTGGGACCCAGGGGCA	0.443																																					p.G401G		Atlas-SNP	.											.	CDHR1	122	.	0			c.A1203G						.						82.0	80.0	81.0					10																	85968520		2203	4300	6503	SO:0001819	synonymous_variant	92211	exon12			GGTGGGACCCAGG	AB053448	CCDS7372.1, CCDS53548.1	10q23.1	2014-01-28	2010-01-25	2010-01-25	ENSG00000148600	ENSG00000148600		"""Cadherins / Cadherin-related"""	14550	protein-coding gene	gene with protein product		609502	"""protocadherin 21"""	PCDH21		11597768	Standard	NM_001171971		Approved	KIAA1775, CORD15, RP65	uc001kcv.3	Q96JP9	OTTHUMG00000018634	ENST00000372117.3:c.1203A>G	chr10.hg19:g.85968520A>G		169.0	0.0		100.0	4.0	NM_001171971	Q69YZ8|Q8IXY5	Silent	SNP	ENST00000372117.3	hg19	CCDS7372.1																																																																																			.	.		0.443	CDHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049111.1	NM_033100	
ATAD1	84896	hgsc.bcm.edu	37	10	89530707	89530707	+	Splice_Site	SNP	A	A	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr10:89530707A>T	ENST00000308448.7	-	7	1159		c.e7+1		ATAD1_ENST00000400215.3_Intron|ATAD1_ENST00000328142.3_Splice_Site|ATAD1_ENST00000541004.1_Splice_Site	NM_032810.2	NP_116199.2	Q8NBU5	ATAD1_HUMAN	ATPase family, AAA domain containing 1						ATP catabolic process (GO:0006200)|learning (GO:0007612)|memory (GO:0007613)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|positive regulation of receptor internalization (GO:0002092)	cell junction (GO:0030054)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			kidney(1)|large_intestine(4)|lung(4)|ovary(1)	10		all_cancers(4;6.78e-12)|Prostate(4;3.56e-12)|all_epithelial(4;5.58e-09)|Melanoma(5;0.0273)|Breast(4;0.0424)|all_hematologic(4;0.0846)|Colorectal(252;0.207)|Glioma(4;0.217)|all_neural(4;0.224)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00131)|GBM - Glioblastoma multiforme(1;1.1e-32)|Lung(2;1.4e-05)|LUSC - Lung squamous cell carcinoma(2;2.69e-05)|Colorectal(12;7.09e-05)|COAD - Colon adenocarcinoma(12;0.000261)|STAD - Stomach adenocarcinoma(243;0.235)		AAGACCACCTACAGGCTGGTT	0.378																																					.		Atlas-SNP	.											.	ATAD1	32	.	0			c.780+2T>A						.						103.0	95.0	98.0					10																	89530707		2203	4300	6503	SO:0001630	splice_region_variant	84896	exon8			CCACCTACAGGCT	AL834370	CCDS7386.1	10q23.31	2010-04-21		2007-02-08	ENSG00000138138	ENSG00000138138		"""ATPases / AAA-type"""	25903	protein-coding gene	gene with protein product		614452				12477932	Standard	NM_032810		Approved	FLJ14600	uc001kez.1	Q8NBU5	OTTHUMG00000018685	ENST00000308448.7:c.780+1T>A	chr10.hg19:g.89530707A>T		118.0	0.0		98.0	4.0	NM_032810	D3DR26|Q6DKG1|Q6P4B9|Q8N3G1|Q8WYR9|Q969Y3	Splice_Site	SNP	ENST00000308448.7	hg19	CCDS7386.1	.	.	.	.	.	.	.	.	.	.	A	19.47	3.833603	0.71258	.	.	ENSG00000138138	ENST00000308448;ENST00000328142;ENST00000541004	.	.	.	5.03	5.03	0.67393	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.3513	0.60603	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ATAD1	89520687	1.000000	0.71417	0.791000	0.31998	0.772000	0.43724	8.526000	0.90588	2.186000	0.69663	0.528000	0.53228	.	.	.		0.378	ATAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049235.1	NM_032810	Intron
ACTA2	59	hgsc.bcm.edu	37	10	90708594	90708594	+	Missense_Mutation	SNP	C	C	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr10:90708594C>T	ENST00000458208.1	-	2	568	c.94G>A	c.(94-96)Gtt>Att	p.V32I	ACTA2_ENST00000480297.1_5'UTR|ACTA2_ENST00000224784.6_Missense_Mutation_p.V32I|STAMBPL1_ENST00000371927.3_Intron	NM_001141945.1	NP_001135417.1	P62736	ACTA_HUMAN	actin, alpha 2, smooth muscle, aorta	32					glomerular mesangial cell development (GO:0072144)|muscle contraction (GO:0006936)|regulation of blood pressure (GO:0008217)|response to virus (GO:0009615)|vascular smooth muscle contraction (GO:0014829)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|smooth muscle contractile fiber (GO:0030485)	ATP binding (GO:0005524)|protein kinase binding (GO:0019901)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(2)	17		Colorectal(252;0.0161)		Colorectal(12;0.000123)|COAD - Colon adenocarcinoma(12;0.00018)		GATGGGAAAACAGCCCTGGGA	0.502																																					p.V32I		Atlas-SNP	.											.	ACTA2	33	.	0			c.G94A						.						124.0	117.0	119.0					10																	90708594		2203	4300	6503	SO:0001583	missense	59	exon2			GGAAAACAGCCCT	X13839	CCDS7392.1	10q23.31	2014-09-17			ENSG00000107796	ENSG00000107796			130	protein-coding gene	gene with protein product		102620				2398629	Standard	NM_001141945		Approved	ACTSA	uc001kfp.3	P62736	OTTHUMG00000018700	ENST00000458208.1:c.94G>A	chr10.hg19:g.90708594C>T	ENSP00000402373:p.Val32Ile	119.0	0.0		78.0	4.0	NM_001141945	B2R8A4|P03996|P04108|Q6FI19	Missense_Mutation	SNP	ENST00000458208.1	hg19	CCDS7392.1	.	.	.	.	.	.	.	.	.	.	C	17.02	3.282013	0.59867	.	.	ENSG00000107796	ENST00000224784;ENST00000458208;ENST00000415557;ENST00000458159	D;D;D;D	0.91740	-2.9;-2.9;-2.9;-2.9	5.7	5.7	0.88788	.	0.000000	0.64402	D	0.000005	D	0.94574	0.8252	L	0.47716	1.5	0.58432	D	0.999994	P;B	0.48503	0.911;0.012	D;B	0.64410	0.925;0.106	D	0.94804	0.7973	10	0.87932	D	0	.	18.4002	0.90514	0.0:1.0:0.0:0.0	.	32;32	B7Z6I1;P62736	.;ACTA_HUMAN	I	32	ENSP00000224784:V32I;ENSP00000402373:V32I;ENSP00000396730:V32I;ENSP00000398239:V32I	ENSP00000224784:V32I	V	-	1	0	ACTA2	90698574	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.688000	0.91661	0.650000	0.86243	GTT	.	.		0.502	ACTA2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049264.1	NM_001613	
IFIT1	3434	hgsc.bcm.edu	37	10	91163429	91163429	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr10:91163429T>C	ENST00000371804.3	+	2	1564	c.1397T>C	c.(1396-1398)cTg>cCg	p.L466P	IFIT1_ENST00000546318.1_Missense_Mutation_p.L435P|LIPA_ENST00000371837.1_Intron	NM_001270927.1|NM_001548.4	NP_001257856.1|NP_001539.3	P09914	IFIT1_HUMAN	interferon-induced protein with tetratricopeptide repeats 1	466					cellular response to exogenous dsRNA (GO:0071360)|cellular response to type I interferon (GO:0071357)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|intracellular transport of viral protein in host cell (GO:0019060)|negative regulation of defense response to virus by host (GO:0050689)|negative regulation of helicase activity (GO:0051097)|negative regulation of protein binding (GO:0032091)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	15						GCCCTGAGACTGGCTGCTGAC	0.438																																					p.L466P		Atlas-SNP	.											.	IFIT1	30	.	0			c.T1397C						.						44.0	46.0	45.0					10																	91163429		2203	4300	6503	SO:0001583	missense	3434	exon3			TGAGACTGGCTGC	M24594	CCDS31243.1, CCDS59220.1	10q23.31	2014-05-22			ENSG00000185745	ENSG00000185745		"""Tetratricopeptide (TTC) repeat domain containing"""	5407	protein-coding gene	gene with protein product		147690		G10P1, IFI56, IFNAI1		1377167, 3360121	Standard	NM_001548		Approved	GARG-16	uc001kgi.4	P09914	OTTHUMG00000018712	ENST00000371804.3:c.1397T>C	chr10.hg19:g.91163429T>C	ENSP00000360869:p.Leu466Pro	118.0	0.0		99.0	5.0	NM_001270927	B3KS50|D3DR31|Q5T7J1|Q96QM5	Missense_Mutation	SNP	ENST00000371804.3	hg19	CCDS31243.1	.	.	.	.	.	.	.	.	.	.	T	14.24	2.476738	0.44044	.	.	ENSG00000185745	ENST00000371804;ENST00000546318	T;T	0.74315	-0.83;-0.83	5.05	3.84	0.44239	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.678072	0.11935	U	0.515315	D	0.85478	0.5706	M	0.81682	2.555	0.09310	N	0.999996	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.73616	-0.3926	10	0.87932	D	0	.	10.0811	0.42391	0.2643:0.0:0.0:0.7357	.	466;466	Q5T7J1;P09914	.;IFIT1_HUMAN	P	466;435	ENSP00000360869:L466P;ENSP00000441968:L435P	ENSP00000360869:L466P	L	+	2	0	IFIT1	91153409	0.003000	0.15002	0.020000	0.16555	0.646000	0.38490	0.809000	0.27168	2.010000	0.58986	0.528000	0.53228	CTG	.	.		0.438	IFIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049302.1	NM_001548	
MYOF	26509	hgsc.bcm.edu	37	10	95107502	95107502	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr10:95107502A>G	ENST00000359263.4	-	37	4120	c.4121T>C	c.(4120-4122)gTg>gCg	p.V1374A	MYOF_ENST00000358334.5_Missense_Mutation_p.V1361A|MYOF_ENST00000371501.4_Missense_Mutation_p.V1374A|MYOF_ENST00000371502.4_Missense_Mutation_p.V1374A	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin	1374					blood circulation (GO:0008015)|cellular response to heat (GO:0034605)|muscle contraction (GO:0006936)|plasma membrane repair (GO:0001778)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)	caveola (GO:0005901)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						GACCTTGATCACCAGTGGGGG	0.552																																					p.V1374A		Atlas-SNP	.											.	MYOF	177	.	0			c.T4121C						.						53.0	55.0	55.0					10																	95107502		1962	4159	6121	SO:0001583	missense	26509	exon37			TTGATCACCAGTG	AB033033	CCDS41550.1, CCDS41551.1	10q24	2014-06-27	2008-11-26	2008-11-26	ENSG00000138119	ENSG00000138119			3656	protein-coding gene	gene with protein product	"""fer-1-like family member 3"""	604603	"""fer-1 (C.elegans)-like 3 (myoferlin)"", ""fer-1-like 3, myoferlin (C. elegans)"""	FER1L3		10607832, 10995573, 17702744	Standard	NM_013451		Approved	KIAA1207	uc001kin.3	Q9NZM1	OTTHUMG00000018772	ENST00000359263.4:c.4121T>C	chr10.hg19:g.95107502A>G	ENSP00000352208:p.Val1374Ala	133.0	0.0		85.0	5.0	NM_013451	B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	Missense_Mutation	SNP	ENST00000359263.4	hg19	CCDS41551.1	.	.	.	.	.	.	.	.	.	.	A	16.53	3.149672	0.57151	.	.	ENSG00000138119	ENST00000358334;ENST00000359263;ENST00000371501;ENST00000371502	T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31	5.68	4.54	0.55810	C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.126462	0.53938	N	0.000057	T	0.77942	0.4206	M	0.79123	2.44	0.52501	D	0.999954	D;D	0.59357	0.963;0.985	P;P	0.60541	0.792;0.876	T	0.77297	-0.2640	10	0.40728	T	0.16	-16.2328	11.5768	0.50866	0.9302:0.0:0.0698:0.0	.	1361;1374	Q9NZM1-6;Q9NZM1	.;MYOF_HUMAN	A	1361;1374;1374;1374	ENSP00000351094:V1361A;ENSP00000352208:V1374A;ENSP00000360556:V1374A;ENSP00000360557:V1374A	ENSP00000351094:V1361A	V	-	2	0	MYOF	95097492	1.000000	0.71417	1.000000	0.80357	0.042000	0.13812	9.339000	0.96797	0.990000	0.38787	-0.388000	0.06559	GTG	.	.		0.552	MYOF-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049423.2	NM_013451	
RRP12	23223	hgsc.bcm.edu	37	10	99148093	99148093	+	Silent	SNP	C	C	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr10:99148093C>A	ENST00000370992.4	-	8	1044	c.933G>T	c.(931-933)ctG>ctT	p.L311L	RRP12_ENST00000414986.1_Silent_p.L250L|RRP12_ENST00000536831.1_Intron|RRP12_ENST00000315563.6_Silent_p.L211L	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	311						integral component of membrane (GO:0016021)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		GCAGGTCCTTCAGCAGCGTCA	0.612																																					p.L311L		Atlas-SNP	.											.	RRP12	97	.	0			c.G933T						.						70.0	67.0	68.0					10																	99148093		2203	4300	6503	SO:0001819	synonymous_variant	23223	exon8			GTCCTTCAGCAGC		CCDS7457.1, CCDS44467.1, CCDS60605.1	10q24.2	2006-11-06	2006-11-06	2006-11-06	ENSG00000052749	ENSG00000052749			29100	protein-coding gene	gene with protein product			"""KIAA0690"""	KIAA0690		9734811	Standard	NM_015179		Approved		uc001knf.3	Q5JTH9	OTTHUMG00000018855	ENST00000370992.4:c.933G>T	chr10.hg19:g.99148093C>A		93.0	0.0		71.0	4.0	NM_015179	B4DK00|E9PCK7|Q5JTH8|Q69YK4|Q96E87|Q9BUH3|Q9Y4C7	Silent	SNP	ENST00000370992.4	hg19	CCDS7457.1																																																																																			.	.		0.612	RRP12-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049699.4	NM_015179	
CWF19L1	55280	hgsc.bcm.edu	37	10	101997942	101997942	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr10:101997942A>G	ENST00000354105.4	-	11	1177	c.1091T>C	c.(1090-1092)cTc>cCc	p.L364P	CWF19L1_ENST00000370379.1_Missense_Mutation_p.L119P|CWF19L1_ENST00000478047.1_5'UTR|SNORA12_ENST00000391162.1_RNA	NM_018294.4	NP_060764.3	Q69YN2	C19L1_HUMAN	CWF19-like 1, cell cycle control (S. pombe)	364							catalytic activity (GO:0003824)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|stomach(2)	17		Colorectal(252;0.117)		Epithelial(162;3.78e-10)|all cancers(201;3.1e-08)		AGGCAGGATGAGGACATGGTC	0.488																																					p.L364P		Atlas-SNP	.											.	CWF19L1	39	.	0			c.T1091C						.						198.0	179.0	186.0					10																	101997942		2203	4300	6503	SO:0001583	missense	55280	exon11			AGGATGAGGACAT	AK001860	CCDS7489.1	10q24.31	2008-11-24			ENSG00000095485	ENSG00000095485			25613	protein-coding gene	gene with protein product						14702039	Standard	NM_018294		Approved	FLJ10998	uc001kqq.1	Q69YN2	OTTHUMG00000018901	ENST00000354105.4:c.1091T>C	chr10.hg19:g.101997942A>G	ENSP00000326411:p.Leu364Pro	191.0	0.0		125.0	5.0	NM_018294	B4DHX1|D3DR66|Q5W0I3|Q96HC3|Q9H865|Q9NV13	Missense_Mutation	SNP	ENST00000354105.4	hg19	CCDS7489.1	.	.	.	.	.	.	.	.	.	.	A	24.2	4.507214	0.85282	.	.	ENSG00000095485	ENST00000354105;ENST00000370379	T;T	0.37235	1.65;1.21	5.57	5.57	0.84162	Histidine triad motif (1);Histidine triad-like motif (1);Cwf19-like, C-terminal domain-1 (1);	0.000000	0.85682	D	0.000000	T	0.70657	0.3249	H	0.95437	3.67	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.998;0.999	T	0.80101	-0.1523	10	0.87932	D	0	-10.8725	13.6919	0.62550	1.0:0.0:0.0:0.0	.	68;227;364	Q69YN2-2;Q69YN2-3;Q69YN2	.;.;C19L1_HUMAN	P	364;119	ENSP00000326411:L364P;ENSP00000359405:L119P	ENSP00000326411:L364P	L	-	2	0	CWF19L1	101987932	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.151000	0.77411	2.127000	0.65507	0.528000	0.53228	CTC	.	.		0.488	CWF19L1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_018294	
MRPL43	84545	hgsc.bcm.edu	37	10	102739042	102739042	+	Missense_Mutation	SNP	C	C	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr10:102739042C>T	ENST00000318325.2	-	5	669	c.616G>A	c.(616-618)Gtc>Atc	p.V206I	MRPL43_ENST00000370242.4_Missense_Mutation_p.C248Y|SEMA4G_ENST00000517724.1_Intron|SEMA4G_ENST00000370250.4_Intron|SEMA4G_ENST00000210633.3_Intron|MRPL43_ENST00000370241.3_Intron|RP11-108L7.4_ENST00000447344.1_RNA	NM_176792.2	NP_789762.1	Q8N983	RM43_HUMAN	mitochondrial ribosomal protein L43	206					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(1)|skin(2)|upper_aerodigestive_tract(1)	4		Colorectal(252;0.234)		Epithelial(162;6.21e-09)|all cancers(201;3.14e-07)		AGTGCAGGGACAATCGGGAGG	0.562																																					p.V206I		Atlas-SNP	.											.	MRPL43	16	.	0			c.G616A						.						91.0	77.0	82.0					10																	102739042		2203	4300	6503	SO:0001583	missense	84545	exon5			CAGGGACAATCGG	AB049656	CCDS7502.1, CCDS7503.1, CCDS7504.1, CCDS7505.1	10q24.31	2012-09-13			ENSG00000055950	ENSG00000055950		"""Mitochondrial ribosomal proteins / large subunits"""	14517	protein-coding gene	gene with protein product		611848					Standard	NM_176792		Approved	bMRP36a	uc001ksa.1	Q8N983	OTTHUMG00000018920	ENST00000318325.2:c.616G>A	chr10.hg19:g.102739042C>T	ENSP00000315364:p.Val206Ile	197.0	0.0		120.0	5.0	NM_176792	B1AL06|B1AL07|B1AL09|B1AL10|C9J5Q3|D3DR71|Q5JW06|Q7Z719|Q7Z7H6|Q86XN1|Q9BYC7	Missense_Mutation	SNP	ENST00000318325.2	hg19	CCDS7502.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.96|14.96	2.692255|2.692255	0.48202|0.48202	.|.	.|.	ENSG00000055950|ENSG00000055950	ENST00000370242|ENST00000318325	.|.	.|.	.|.	5.52|5.52	-1.23|-1.23	0.09465|0.09465	.|.	0.596453|.	0.14614|.	N|.	0.308857|.	T|T	0.13798|0.13798	0.0334|0.0334	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B|B	0.02656|0.06786	0.0|0.001	B|B	0.01281|0.06405	0.0|0.002	T|T	0.33599|0.33599	-0.9862|-0.9862	9|8	0.87932|0.06494	D|T	0|0.89	-5.2511|-5.2511	6.807|6.807	0.23782|0.23782	0.0:0.5441:0.1113:0.3447|0.0:0.5441:0.1113:0.3447	.|.	248|206	B1AL06|Q8N983	.|RM43_HUMAN	Y|I	248|206	.|.	ENSP00000359262:C248Y|ENSP00000315364:V206I	C|V	-|-	2|1	0|0	MRPL43|MRPL43	102729032|102729032	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.617000|0.617000	0.37484|0.37484	-0.226000|-0.226000	0.09139|0.09139	-0.097000|-0.097000	0.12307|0.12307	0.479000|0.479000	0.44913|0.44913	TGT|GTC	.	.		0.562	MRPL43-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049902.1		
FBXW4	6468	hgsc.bcm.edu	37	10	103372236	103372236	+	Splice_Site	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr10:103372236T>C	ENST00000331272.7	-	7	1455		c.e7-2		FBXW4_ENST00000470093.1_Splice_Site	NM_022039.3	NP_071322.1	P57775	FBXW4_HUMAN	F-box and WD repeat domain containing 4						cartilage development (GO:0051216)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|positive regulation of mesenchymal cell proliferation (GO:0002053)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)	ubiquitin ligase complex (GO:0000151)				breast(3)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	15		Colorectal(252;0.123)		Epithelial(162;4.35e-08)|all cancers(201;1.92e-06)		AGCTGCCCACTGGGAAGGGAA	0.557																																					.		Atlas-SNP	.											.	FBXW4	39	.	0			c.837-2A>G						.						141.0	121.0	128.0					10																	103372236		2203	4300	6503	SO:0001630	splice_region_variant	6468	exon8			GCCCACTGGGAAG	AF281859	CCDS31271.1	10q24	2013-01-09	2007-02-08	2005-03-12	ENSG00000107829	ENSG00000107829		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	10847	protein-coding gene	gene with protein product		608071	"""split hand/foot malformation (ectrodactyly) type 3"", ""F-box and WD-40 domain protein 4"""	SHFM3		8723077, 7912888	Standard	XM_005270053		Approved	Fbw4, dactylin	uc001kto.3	P57775	OTTHUMG00000018938	ENST00000331272.7:c.837-2A>G	chr10.hg19:g.103372236T>C		82.0	0.0		61.0	4.0	NM_022039	Q5SVS1|Q96IM6	Splice_Site	SNP	ENST00000331272.7	hg19	CCDS31271.1	.	.	.	.	.	.	.	.	.	.	T	17.16	3.319035	0.60524	.	.	ENSG00000107829	ENST00000331272;ENST00000389046	.	.	.	4.28	4.28	0.50868	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.5663	0.61819	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	FBXW4	103362226	1.000000	0.71417	0.997000	0.53966	0.833000	0.47200	6.842000	0.75379	1.791000	0.52520	0.260000	0.18958	.	.	.		0.557	FBXW4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049979.2	NM_022039	Intron
GBF1	8729	hgsc.bcm.edu	37	10	104119157	104119157	+	Missense_Mutation	SNP	G	G	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr10:104119157G>C	ENST00000369983.3	+	11	1402	c.1142G>C	c.(1141-1143)cGg>cCg	p.R381P	GBF1_ENST00000476019.1_3'UTR	NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	381					COPI coating of Golgi vesicle (GO:0048205)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of ARF protein signal transduction (GO:0032012)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	cis-Golgi network (GO:0005801)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		GTCAATCCCCGGGGCGTGCGC	0.562																																					p.R382P		Atlas-SNP	.											.	GBF1	142	.	0			c.G1145C						.						145.0	110.0	122.0					10																	104119157		2203	4300	6503	SO:0001583	missense	8729	exon11			ATCCCCGGGGCGT	D87435	CCDS7533.1	10q24	2010-02-12	2010-02-12		ENSG00000107862	ENSG00000107862			4181	protein-coding gene	gene with protein product		603698	"""golgi-specific brefeldin A resistance factor 1"""			9828135	Standard	NM_004193		Approved	KIAA0248, ARF1GEF	uc001kux.2	Q92538	OTTHUMG00000018955	ENST00000369983.3:c.1142G>C	chr10.hg19:g.104119157G>C	ENSP00000359000:p.Arg381Pro	114.0	0.0		76.0	4.0	NM_001199378	Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Missense_Mutation	SNP	ENST00000369983.3	hg19	CCDS7533.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.962377	0.92791	.	.	ENSG00000107862	ENST00000369983	T	0.10960	2.82	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.32585	0.0834	M	0.66939	2.045	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.72625	0.962;0.916;0.978	T	0.00567	-1.1667	10	0.30078	T	0.28	-14.2111	19.6846	0.95976	0.0:0.0:1.0:0.0	.	381;381;381	Q149P1;Q149P0;Q92538	.;.;GBF1_HUMAN	P	381	ENSP00000359000:R381P	ENSP00000359000:R381P	R	+	2	0	GBF1	104109147	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.471000	0.97696	2.644000	0.89710	0.655000	0.94253	CGG	.	.		0.562	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050051.1		
SORCS3	22986	hgsc.bcm.edu	37	10	106970970	106970970	+	Missense_Mutation	SNP	G	G	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr10:106970970G>T	ENST00000369701.3	+	17	2564	c.2337G>T	c.(2335-2337)aaG>aaT	p.K779N	SORCS3_ENST00000369699.4_Missense_Mutation_p.K65N	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	779					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CCCCATCAAAGGACTGCAGCC	0.463																																					p.K779N	NSCLC(116;1497 1690 7108 13108 14106)	Atlas-SNP	.											.	SORCS3	282	.	0			c.G2337T						.						111.0	91.0	97.0					10																	106970970		2203	4300	6503	SO:0001583	missense	22986	exon17			ATCAAAGGACTGC	AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.2337G>T	chr10.hg19:g.106970970G>T	ENSP00000358715:p.Lys779Asn	205.0	0.0		145.0	32.0	NM_014978	Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	ENST00000369701.3	hg19	CCDS7558.1	.	.	.	.	.	.	.	.	.	.	G	13.19	2.161735	0.38119	.	.	ENSG00000156395	ENST00000369701;ENST00000393176;ENST00000369699	T;T;T	0.32272	2.43;1.46;1.47	5.93	4.09	0.47781	VPS10 (1);	0.055638	0.64402	D	0.000001	T	0.33147	0.0853	L	0.58810	1.83	0.36202	D	0.85081	P	0.47409	0.895	P	0.45071	0.468	T	0.38845	-0.9642	9	.	.	.	.	10.6971	0.45905	0.2032:0.0:0.7968:0.0	.	779	Q9UPU3	SORC3_HUMAN	N	779;140;65	ENSP00000358715:K779N;ENSP00000376876:K140N;ENSP00000358713:K65N	.	K	+	3	2	SORCS3	106960960	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.307000	0.33516	0.858000	0.35431	-0.150000	0.13652	AAG	.	.		0.463	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978	
RBM20	282996	hgsc.bcm.edu	37	10	112595736	112595736	+	Nonstop_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr10:112595736A>G	ENST00000369519.3	+	14	3742	c.3684A>G	c.(3682-3684)tgA>tgG	p.*1228W	RBM20_ENST00000480343.2_3'UTR	NM_001134363.1	NP_001127835.1	Q5T481	RBM20_HUMAN	RNA binding motif protein 20	0					heart development (GO:0007507)|mRNA processing (GO:0006397)|positive regulation of RNA splicing (GO:0033120)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(4)|kidney(3)|large_intestine(1)|ovary(1)|skin(2)	12						AAAAGCTctgatgcttctgct	0.592																																					p.X1228W		Atlas-SNP	.											.	RBM20	50	.	0			c.A3684G						.						25.0	26.0	26.0					10																	112595736		692	1591	2283	SO:0001578	stop_lost	282996	exon14			GCTCTGATGCTTC	BX648563	CCDS44477.1	10q25.3	2014-09-17			ENSG00000203867	ENSG00000203867		"""RNA binding motif (RRM) containing"""	27424	protein-coding gene	gene with protein product		613171					Standard	NM_001134363		Approved		uc001kzf.2	Q5T481	OTTHUMG00000019043	ENST00000369519.3:c.3684A>G	chr10.hg19:g.112595736A>G	ENSP00000358532:p.*1228Trpext*33	125.0	0.0		71.0	4.0	NM_001134363	A6NIP5|B5A868|Q5JVI1	Missense_Mutation	SNP	ENST00000369519.3	hg19	CCDS44477.1	.	.	.	.	.	.	.	.	.	.	A	11.64	1.698947	0.30142	.	.	ENSG00000203867	ENST00000369519	.	.	.	5.17	4.04	0.47022	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.9779	0.41795	0.9184:0.0:0.0816:0.0	.	.	.	.	W	1228	.	.	X	+	3	0	RBM20	112585726	1.000000	0.71417	0.507000	0.27676	0.427000	0.31564	4.397000	0.59690	0.818000	0.34468	0.454000	0.30748	TGA	.	.		0.592	RBM20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050339.2	NM_001134363	
TCF7L2	6934	hgsc.bcm.edu	37	10	114849213	114849213	+	Intron	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr10:114849213T>C	ENST00000355995.4	+	5	1059				TCF7L2_ENST00000352065.5_Intron|TCF7L2_ENST00000355717.4_Missense_Mutation_p.S180P|TCF7L2_ENST00000349937.2_Intron|TCF7L2_ENST00000534894.1_Intron|TCF7L2_ENST00000369395.1_Missense_Mutation_p.S181P|TCF7L2_ENST00000369397.4_Intron|TCF7L2_ENST00000543371.1_Intron|TCF7L2_ENST00000542695.1_Intron|TCF7L2_ENST00000538897.1_Intron|TCF7L2_ENST00000545257.1_Intron|TCF7L2_ENST00000536810.1_Intron			Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 (T-cell specific, HMG-box)						blood vessel development (GO:0001568)|bone mineralization (GO:0030282)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|catenin import into nucleus (GO:0035411)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cellular response to starvation (GO:0009267)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic genitalia morphogenesis (GO:0030538)|embryonic hindgut morphogenesis (GO:0048619)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|generation of neurons (GO:0048699)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen metabolic process (GO:0005977)|insulin metabolic process (GO:1901142)|maintenance of DNA repeat elements (GO:0043570)|multicellular organism growth (GO:0035264)|myoblast fate commitment (GO:0048625)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of organ growth (GO:0046621)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neural tube development (GO:0021915)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte development (GO:0014003)|pancreas development (GO:0031016)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of insulin secretion (GO:0032024)|positive regulation of protein binding (GO:0032092)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|post-embryonic development (GO:0009791)|regulation of hormone metabolic process (GO:0032350)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of myelination (GO:0031641)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of skeletal muscle tissue development (GO:0048641)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|secretory granule localization (GO:0032252)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	beta-catenin-TCF7L2 complex (GO:0070369)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|gamma-catenin binding (GO:0045295)|nuclear hormone receptor binding (GO:0035257)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)		VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		CTACCCCCCCTCAGACTTCAC	0.562			T	VTI1A	colorectal																																p.S180P		Atlas-SNP	.		Dom	yes		10	10q25.3	6934	transcription factor 7-like 2		E	.	TCF7L2	298	.	0			c.T538C						.						53.0	49.0	50.0					10																	114849213		1568	3582	5150	SO:0001627	intron_variant	6934	exon5			CCCCCCTCAGACT	X62871	CCDS7576.1, CCDS53578.1, CCDS55729.1, CCDS73196.1, CCDS73197.1, CCDS73198.1	10q25.3	2006-11-24			ENSG00000148737	ENSG00000148737			11641	protein-coding gene	gene with protein product		602228		TCF4		1741298	Standard	NM_001146283		Approved	TCF-4	uc001lae.4	Q9NQB0	OTTHUMG00000019070	ENST00000355995.4:c.552+49328T>C	chr10.hg19:g.114849213T>C		96.0	0.0		68.0	4.0	NM_001146283	B4DRJ8|B9X074|C6ZRJ8|C6ZRK0|E2GH14|E2GH19|E2GH20|E2GH24|E2GH25|E9PFH9|F8W742|F8W7T5|O00185|Q9NQB1|Q9NQB2|Q9NQB3|Q9NQB4|Q9NQB5|Q9NQB6|Q9NQB7|Q9ULC2	Missense_Mutation	SNP	ENST00000355995.4	hg19		.	.	.	.	.	.	.	.	.	.	T	15.67	2.902431	0.52227	.	.	ENSG00000148737	ENST00000355717;ENST00000369395;ENST00000346198	D	0.99338	-5.76	4.46	4.46	0.54185	.	0.436448	0.17235	N	0.181790	D	0.98248	0.9420	N	0.14661	0.345	0.80722	D	1	P;D;D	0.59357	0.93;0.985;0.981	P;D;D	0.72075	0.899;0.976;0.972	D	0.96878	0.9644	10	0.39692	T	0.17	.	10.4805	0.44691	0.0:0.0:0.0:1.0	.	50;75;180	B4DWD5;C6ZRJ6;F8W7T5	.;.;.	P	180;181;150	ENSP00000347949:S180P	ENSP00000345640:S150P	S	+	1	0	TCF7L2	114839203	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	1.775000	0.38584	2.242000	0.73789	0.529000	0.55759	TCA	.	.		0.562	TCF7L2-203	KNOWN	basic	protein_coding	protein_coding		NM_030756	
PLEKHS1	79949	hgsc.bcm.edu	37	10	115534677	115534677	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr10:115534677A>G	ENST00000369310.3	+	9	1416	c.854A>G	c.(853-855)cAa>cGa	p.Q285R	PLEKHS1_ENST00000354462.3_Missense_Mutation_p.Q35R|PLEKHS1_ENST00000369312.4_Missense_Mutation_p.Q203R|PLEKHS1_ENST00000369309.1_Missense_Mutation_p.Q105R|PLEKHS1_ENST00000361048.1_Missense_Mutation_p.Q291R	NM_182601.1	NP_872407.1	Q5SXH7	PKHS1_HUMAN	pleckstrin homology domain containing, family S member 1	285																	CTCCACCTGCAAGAACAAGGC	0.512																																					p.Q291R		Atlas-SNP	.											.	PLEKHS1	19	.	0			c.A872G						.						104.0	93.0	97.0					10																	115534677		2203	4300	6503	SO:0001583	missense	79949	exon10			ACCTGCAAGAACA	AK027190	CCDS7583.1, CCDS53580.1, CCDS53581.1	10q26.11	2013-01-11	2012-05-31	2012-05-31	ENSG00000148735	ENSG00000148735		"""Pleckstrin homology (PH) domain containing"""	26285	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 81"""	C10orf81		12477932	Standard	NM_024889		Approved	FLJ23537, bA211N11.2	uc001lat.2	Q5SXH7	OTTHUMG00000019074	ENST00000369310.3:c.854A>G	chr10.hg19:g.115534677A>G	ENSP00000358316:p.Gln285Arg	114.0	0.0		74.0	4.0	NM_024889	A8KA02|B3KX00|B6EDE1|Q5SXH8|Q5SXI0|Q6ZQR5|Q8NE42|Q9H5D9	Missense_Mutation	SNP	ENST00000369310.3	hg19	CCDS53580.1	.	.	.	.	.	.	.	.	.	.	A	14.99	2.699877	0.48307	.	.	ENSG00000148735	ENST00000361048;ENST00000369312;ENST00000369310;ENST00000369309;ENST00000354462	T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5	5.69	5.69	0.88448	.	0.533634	0.20425	N	0.092585	T	0.46210	0.1381	L	0.59436	1.845	0.18873	N	0.999984	P;D;P;D	0.63880	0.921;0.972;0.952;0.993	P;P;P;P	0.59487	0.678;0.742;0.677;0.858	T	0.39210	-0.9625	10	0.39692	T	0.17	-11.0061	12.3346	0.55060	1.0:0.0:0.0:0.0	.	285;285;285;291	Q5SXH7;Q5SXH7-5;Q5SXH7-2;Q5SXH7-4	CJ081_HUMAN;.;.;.	R	291;203;285;105;35	ENSP00000354332:Q291R;ENSP00000358318:Q203R;ENSP00000358316:Q285R;ENSP00000358315:Q105R;ENSP00000346451:Q35R	ENSP00000346451:Q35R	Q	+	2	0	C10orf81	115524667	0.080000	0.21391	0.586000	0.28679	0.183000	0.23260	3.156000	0.50708	2.182000	0.69389	0.482000	0.46254	CAA	.	.		0.512	PLEKHS1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050432.1	NM_024889	
FAM160B1	57700	hgsc.bcm.edu	37	10	116605950	116605950	+	Missense_Mutation	SNP	C	C	A	rs17853717		TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr10:116605950C>A	ENST00000369248.4	+	10	1557	c.1222C>A	c.(1222-1224)Ctc>Atc	p.L408I	FAM160B1_ENST00000369250.3_Missense_Mutation_p.L408I	NM_020940.3	NP_065991.3	Q5W0V3	F16B1_HUMAN	family with sequence similarity 160, member B1	408			L -> I (in dbSNP:rs17853717). {ECO:0000269|PubMed:15489334}.							NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						GATGGGTATTCTCACATCCAC	0.433																																					p.L408I		Atlas-SNP	.											.	FAM160B1	107	.	0			c.C1222A						.						211.0	201.0	204.0					10																	116605950		2203	4300	6503	SO:0001583	missense	57700	exon10			GGTATTCTCACAT	AB046820	CCDS31290.1, CCDS44480.1	10q26.11	2008-06-05	2008-06-05	2008-06-05	ENSG00000151553	ENSG00000151553			29320	protein-coding gene	gene with protein product			"""KIAA1600"""	KIAA1600		10997877	Standard	NM_020940		Approved	bA106M7.3	uc001lcb.3	Q5W0V3	OTTHUMG00000019092	ENST00000369248.4:c.1222C>A	chr10.hg19:g.116605950C>A	ENSP00000358251:p.Leu408Ile	178.0	0.0		119.0	5.0	NM_020940	Q5H9P7|Q5W0V2|Q8IY76|Q9HCH2	Missense_Mutation	SNP	ENST00000369248.4	hg19	CCDS31290.1	.	.	.	.	.	.	.	.	.	.	C	18.24	3.579707	0.65992	.	.	ENSG00000151553	ENST00000369248;ENST00000369250	T;T	0.32023	1.47;1.47	6.17	4.31	0.51392	.	0.000000	0.85682	D	0.000000	T	0.42223	0.1193	L	0.49778	1.585	0.80722	D	1	D;D	0.64830	0.994;0.993	D;P	0.63877	0.919;0.854	T	0.17319	-1.0373	10	0.17832	T	0.49	-13.5125	11.1366	0.48378	0.1298:0.8047:0.0:0.0655	rs17853717	408;408	Q5W0V3-2;Q5W0V3	.;F16B1_HUMAN	I	408	ENSP00000358251:L408I;ENSP00000358253:L408I	ENSP00000358251:L408I	L	+	1	0	FAM160B1	116595940	0.999000	0.42202	0.993000	0.49108	0.979000	0.70002	2.849000	0.48286	1.602000	0.50124	0.655000	0.94253	CTC	.	C|1.000;|0.000		0.433	FAM160B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050499.1	XM_049351	
ATRNL1	26033	hgsc.bcm.edu	37	10	117093838	117093838	+	Silent	SNP	C	C	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr10:117093838C>T	ENST00000355044.3	+	19	3210	c.3084C>T	c.(3082-3084)tgC>tgT	p.C1028C	ATRNL1_ENST00000423111.2_Intron|ATRNL1_ENST00000303745.7_Intron	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	1028	Laminin EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00460}.				G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		ATAATGTGTGCGAACAGTGTA	0.368																																					p.C1028C		Atlas-SNP	.											.	ATRNL1	219	.	0			c.C3084T						.						129.0	112.0	118.0					10																	117093838		2203	4300	6503	SO:0001819	synonymous_variant	26033	exon19			TGTGTGCGAACAG	AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.3084C>T	chr10.hg19:g.117093838C>T		132.0	0.0		100.0	4.0	NM_207303	O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Silent	SNP	ENST00000355044.3	hg19	CCDS7592.1																																																																																			.	.		0.368	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050507.3	XM_049349	
KIAA1598	57698	hgsc.bcm.edu	37	10	118713701	118713701	+	Silent	SNP	C	C	T	rs372967078		TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr10:118713701C>T	ENST00000355371.4	-	5	785	c.288G>A	c.(286-288)acG>acA	p.T96T	KIAA1598_ENST00000392903.2_Silent_p.T96T|KIAA1598_ENST00000260777.10_Silent_p.T96T|KIAA1598_ENST00000392901.4_Silent_p.T36T|KIAA1598_ENST00000497044.1_5'UTR	NM_001127211.2|NM_001258298.1|NM_001258299.1	NP_001120683.1|NP_001245227.1|NP_001245228.1	A0MZ66	SHOT1_HUMAN	KIAA1598	96					axon guidance (GO:0007411)|regulation of establishment of cell polarity (GO:2000114)|regulation of neuron migration (GO:2001222)	axonal growth cone (GO:0044295)				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)	10				all cancers(201;0.00494)		TTCTTTTCAACGTTTTATTTT	0.313																																					p.T96T		Atlas-SNP	.											.	KIAA1598	74	.	0			c.G288A						.	C	,	1,4405	2.1+/-5.4	0,1,2202	92.0	80.0	84.0		288,288	-3.7	0.9	10		84	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	KIAA1598	NM_001127211.1,NM_018330.5	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	96/632,96/457	118713701	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	57698	exon5			TTTCAACGTTTTA	BC022348	CCDS31293.1, CCDS44482.1, CCDS58097.1, CCDS73207.1, CCDS73208.1	10q26.12	2007-01-30			ENSG00000187164	ENSG00000187164			29319	protein-coding gene	gene with protein product		611171				10997877, 17030985	Standard	NM_001127211		Approved	shootin1, shootin-1	uc009xyw.4	A0MZ66	OTTHUMG00000019114	ENST00000355371.4:c.288G>A	chr10.hg19:g.118713701C>T		122.0	0.0		89.0	4.0	NM_001258299	A8MYU7|B3KRD3|B3KRH2|B3KTE0|B3KTJ7|B3KTJ8|B4E3U1|B7Z7Z9|Q68DG1|Q6PIM5|Q9HCH4|Q9NUV0	Silent	SNP	ENST00000355371.4	hg19	CCDS44482.1																																																																																			.	.		0.313	KIAA1598-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_018330	
EIF3A	8661	hgsc.bcm.edu	37	10	120801517	120801517	+	Nonsense_Mutation	SNP	A	A	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr10:120801517A>T	ENST00000369144.3	-	19	3642	c.3515T>A	c.(3514-3516)tTa>tAa	p.L1172*	EIF3A_ENST00000541549.1_Nonsense_Mutation_p.L1138*	NM_003750.2	NP_003741.1	P56537	IF6_HUMAN	eukaryotic translation initiation factor 3, subunit A	0					mature ribosome assembly (GO:0042256)|ribosomal large subunit biogenesis (GO:0042273)|ribosomal subunit export from nucleus (GO:0000054)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lamin filament (GO:0005638)|nucleus (GO:0005634)	ribosomal large subunit binding (GO:0043023)|ribosome binding (GO:0043022)|translation initiation factor activity (GO:0003743)			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		TGGCTTGACTAATGGTCTCCA	0.413																																					p.L1172X		Atlas-SNP	.											.	EIF3A	142	.	0			c.T3515A						.						90.0	77.0	81.0					10																	120801517		2203	4300	6503	SO:0001587	stop_gained	8661	exon19			TTGACTAATGGTC	U78311	CCDS7608.1	10q26.11	2007-08-03	2007-07-27	2007-07-27	ENSG00000107581	ENSG00000107581			3271	protein-coding gene	gene with protein product		602039	"""eukaryotic translation initiation factor 3, subunit 10 theta, 150/170kDa"""	EIF3, EIF3S10		9054404, 8590280	Standard	NM_003750		Approved	eIF3-theta, eIF3-p170, KIAA0139, eIF3a, TIF32	uc001ldu.3	Q14152	OTTHUMG00000019144	ENST00000369144.3:c.3515T>A	chr10.hg19:g.120801517A>T	ENSP00000358140:p.Leu1172*	115.0	0.0		94.0	4.0	NM_003750	B7ZBG9|Q6IBN8|Q96TD5	Nonsense_Mutation	SNP	ENST00000369144.3	hg19	CCDS7608.1	.	.	.	.	.	.	.	.	.	.	A	40	8.112068	0.98659	.	.	ENSG00000107581	ENST00000369144;ENST00000541549	.	.	.	5.79	4.63	0.57726	.	0.178608	0.26578	N	0.023581	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	-10.3137	10.8841	0.46957	0.8598:0.0:0.0:0.1402	.	.	.	.	X	1172;1138	.	ENSP00000358140:L1172X	L	-	2	0	EIF3A	120791507	1.000000	0.71417	0.994000	0.49952	0.984000	0.73092	4.995000	0.63908	0.988000	0.38734	0.533000	0.62120	TTA	.	.		0.413	EIF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050634.1	NM_003750	
DHX32	55760	hgsc.bcm.edu	37	10	127527737	127527737	+	Missense_Mutation	SNP	G	G	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr10:127527737G>A	ENST00000284690.3	-	9	2204	c.1714C>T	c.(1714-1716)Cgt>Tgt	p.R572C	BCCIP_ENST00000429863.2_Intron|DHX32_ENST00000284688.6_Missense_Mutation_p.R491C|BCCIP_ENST00000368759.5_Intron|DHX32_ENST00000368721.1_Missense_Mutation_p.R196C|BCCIP_ENST00000299130.3_Intron	NM_018180.2	NP_060650.2	Q7L7V1	DHX32_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 32	572						mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)	p.R572C(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1)	29		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				AAGTAATCACGACACCACTTT	0.453																																					p.R572C		Atlas-SNP	.											DHX32,colon,carcinoma,0,1	DHX32	67	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1714T						.						106.0	97.0	100.0					10																	127527737		2203	4300	6503	SO:0001583	missense	55760	exon9			AATCACGACACCA		CCDS7652.1	10q26.11-q26.2	2008-01-07	2004-01-29	2004-01-30	ENSG00000089876	ENSG00000089876		"""DEAH-boxes"""	16717	protein-coding gene	gene with protein product		607960	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 32"""	DDX32			Standard	NM_018180		Approved	FLJ10889, FLJ10694, DHLP1	uc001ljf.1	Q7L7V1	OTTHUMG00000019238	ENST00000284690.3:c.1714C>T	chr10.hg19:g.127527737G>A	ENSP00000284690:p.Arg572Cys	115.0	0.0		75.0	3.0	NM_018180	A8MSV2|D3DRF9|Q49AG5|Q5T3L0|Q5T3L5|Q96NY1|Q9BUN0|Q9H769|Q9NSL5|Q9NV74|Q9NVJ7	Missense_Mutation	SNP	ENST00000284690.3	hg19	CCDS7652.1	.	.	.	.	.	.	.	.	.	.	G	13.95	2.389125	0.42410	.	.	ENSG00000089876	ENST00000368721;ENST00000284690;ENST00000284688	T;T;T	0.19938	2.11;3.89;3.6	5.54	3.59	0.41128	.	0.618446	0.17770	N	0.162612	T	0.08846	0.0219	N	0.08118	0	0.19300	N	0.99998	D	0.56968	0.978	B	0.32805	0.153	T	0.21999	-1.0229	10	0.87932	D	0	-9.6028	12.7102	0.57086	0.0:0.1235:0.7493:0.1272	.	572	Q7L7V1	DHX32_HUMAN	C	196;572;491	ENSP00000357710:R196C;ENSP00000284690:R572C;ENSP00000284688:R491C	ENSP00000284688:R491C	R	-	1	0	DHX32	127517727	0.996000	0.38824	0.880000	0.34516	0.938000	0.57974	3.038000	0.49783	2.592000	0.87571	0.650000	0.86243	CGT	.	.		0.453	DHX32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050945.2	NM_018180	
ODF3	113746	hgsc.bcm.edu	37	11	197590	197590	+	Missense_Mutation	SNP	C	C	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr11:197590C>A	ENST00000325113.4	+	3	456	c.139C>A	c.(139-141)Cgt>Agt	p.R47S	ODF3_ENST00000525282.1_Missense_Mutation_p.R47S|BET1L_ENST00000410108.1_Intron|ODF3_ENST00000342593.5_Missense_Mutation_p.R47S	NM_053280.3	NP_444510.2	Q96PU9	ODF3A_HUMAN	outer dense fiber of sperm tails 3	47					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	outer dense fiber (GO:0001520)				biliary_tract(1)|breast(1)|kidney(1)|large_intestine(2)|ovary(1)|prostate(2)|skin(1)	9		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;3.95e-27)|Epithelial(43;2.66e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.55e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		CACCAAGCTGCGTGCACCGGC	0.637																																					p.R47S		Atlas-SNP	.											.	ODF3	27	.	0			c.C139A						.						41.0	40.0	40.0					11																	197590		2203	4300	6503	SO:0001583	missense	113746	exon3			AAGCTGCGTGCAC	AB067774	CCDS7688.1, CCDS65981.1	11p15.5	2010-04-23			ENSG00000177947	ENSG00000177947			19905	protein-coding gene	gene with protein product	"""cancer/testis antigen 135"""	608356				11870087	Standard	NM_001286136		Approved	SHIPPO1, hSHIPPO, CT135	uc001lob.3	Q96PU9	OTTHUMG00000119073	ENST00000325113.4:c.139C>A	chr11.hg19:g.197590C>A	ENSP00000325868:p.Arg47Ser	85.0	0.0		71.0	10.0	NM_053280	B7ZLT0|Q69YX0	Missense_Mutation	SNP	ENST00000325113.4	hg19	CCDS7688.1	.	.	.	.	.	.	.	.	.	.	C	10.54	1.377675	0.24944	.	.	ENSG00000177947	ENST00000325113;ENST00000540150;ENST00000342593;ENST00000525282	T;T;T	0.32023	1.49;1.47;1.51	5.02	4.05	0.47172	.	0.000000	0.53938	D	0.000055	T	0.45296	0.1335	L	0.57536	1.79	0.09310	N	0.999999	D;D;D	0.89917	0.98;1.0;0.992	P;D;P	0.81914	0.859;0.995;0.9	T	0.25984	-1.0116	10	0.14656	T	0.56	-8.7064	11.3275	0.49456	0.181:0.819:0.0:0.0	.	47;47;47	B7ZLT0;F8W6Z3;Q96PU9	.;.;ODF3A_HUMAN	S	47	ENSP00000325868:R47S;ENSP00000339623:R47S;ENSP00000436588:R47S	ENSP00000325868:R47S	R	+	1	0	ODF3	187590	0.001000	0.12720	0.112000	0.21494	0.001000	0.01503	0.608000	0.24223	2.497000	0.84241	0.561000	0.74099	CGT	.	.		0.637	ODF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239287.1		
RIC8A	60626	hgsc.bcm.edu	37	11	206034	206034	+	5'Flank	SNP	G	G	T	rs199668338		TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr11:206034G>T	ENST00000526104.1	+	0	0				BET1L_ENST00000529614.2_Missense_Mutation_p.P10Q|BET1L_ENST00000410108.1_Missense_Mutation_p.P10Q|BET1L_ENST00000325147.9_Missense_Mutation_p.P10Q|BET1L_ENST00000486280.1_5'UTR|RP11-304M2.5_ENST00000526963.1_RNA|RIC8A_ENST00000325207.5_5'Flank|BET1L_ENST00000382762.3_Missense_Mutation_p.P10Q|BET1L_ENST00000332865.6_Missense_Mutation_p.P10Q			Q9NPQ8	RIC8A_HUMAN	RIC8 guanine nucleotide exchange factor A						adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|basement membrane organization (GO:0071711)|cell migration involved in gastrulation (GO:0042074)|cell-cell adhesion involved in gastrulation (GO:0070586)|in utero embryonic development (GO:0001701)|vasculature development (GO:0001944)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)			endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)	13		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.45e-27)|Epithelial(43;2.94e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.86e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		CACAGCGCCCGGGCTCTGAGC	0.582																																					p.P10Q		Atlas-SNP	.											.	BET1L	7	.	0			c.C29A						.						68.0	65.0	66.0					11																	206034		2203	4300	6503	SO:0001631	upstream_gene_variant	51272	exon2			GCGCCCGGGCTCT	AK022870	CCDS7690.1, CCDS65982.1	11p15.5	2013-08-05	2013-08-05		ENSG00000177963	ENSG00000177963			29550	protein-coding gene	gene with protein product		609146	"""resistance to inhibitors of cholinesterase 8 homolog A (C. elegans)"""			10985349, 11230166	Standard	XM_005253052		Approved	synembryn, synembryn-A	uc001lof.3	Q9NPQ8	OTTHUMG00000119069		chr11.hg19:g.206034G>T	Exception_encountered	119.0	0.0		70.0	4.0	NM_001098787	Q0P508|Q2T9J1|Q7Z352|Q96EZ1|Q96SZ2|Q9H064|Q9H5H3|Q9H9E7	Missense_Mutation	SNP	ENST00000526104.1	hg19		.	.	.	.	.	.	.	.	.	.	G	12.61	1.990213	0.35131	.	.	ENSG00000177951	ENST00000410108;ENST00000325147;ENST00000382762;ENST00000332865;ENST00000529614	.	.	.	4.17	4.17	0.49024	.	0.641285	0.15582	N	0.254831	T	0.49184	0.1542	N	0.04959	-0.14	0.80722	D	1	B;D	0.57571	0.089;0.98	B;P	0.58391	0.078;0.838	T	0.59364	-0.7468	9	0.52906	T	0.07	.	16.7427	0.85464	0.0:0.0:1.0:0.0	.	10;10	Q9NYM9;B8ZZS0	BET1L_HUMAN;.	Q	10	.	ENSP00000339093:P10Q	P	-	2	0	BET1L	196034	0.777000	0.28628	0.432000	0.26747	0.040000	0.13550	3.621000	0.54210	2.620000	0.88729	0.555000	0.69702	CCG	.	.		0.582	RIC8A-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000384761.1	NM_021932	
ANO9	338440	hgsc.bcm.edu	37	11	420547	420547	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr11:420547T>C	ENST00000332826.6	-	19	1786	c.1702A>G	c.(1702-1704)Agc>Ggc	p.S568G		NM_001012302.2	NP_001012302	A1A5B4	ANO9_HUMAN	anoctamin 9	568					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|negative regulation of intracellular calcium activated chloride channel activity (GO:1902939)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						ACGAGGTTGCTGAAGAGCGCG	0.692																																					p.S568G		Atlas-SNP	.											.	ANO9	61	.	0			c.A1702G						.						23.0	20.0	21.0					11																	420547		2197	4288	6485	SO:0001583	missense	338440	exon19			GGTTGCTGAAGAG	U33271	CCDS31326.1	11p15.5	2014-04-09	2008-08-28	2008-08-28	ENSG00000185101	ENSG00000185101		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	20679	protein-coding gene	gene with protein product			"""tumor protein p53 inducible protein 5"", ""transmembrane protein 16J"""	TP53I5, TMEM16J		9305847, 24692353	Standard	NM_001012302		Approved	PIG5	uc001lpi.2	A1A5B4	OTTHUMG00000165446	ENST00000332826.6:c.1702A>G	chr11.hg19:g.420547T>C	ENSP00000332788:p.Ser568Gly	142.0	0.0		80.0	4.0	NM_001012302	B3KUC4|B4E134|Q8TEN4	Missense_Mutation	SNP	ENST00000332826.6	hg19	CCDS31326.1	.	.	.	.	.	.	.	.	.	.	T	32	5.117698	0.94385	.	.	ENSG00000185101	ENST00000332826	T	0.64618	-0.11	4.05	4.05	0.47172	.	0.198055	0.40385	U	0.001116	T	0.71492	0.3346	M	0.66939	2.045	0.44282	D	0.997149	P;P	0.50710	0.914;0.938	P;P	0.55749	0.528;0.783	T	0.75575	-0.3270	10	0.66056	D	0.02	.	13.3569	0.60633	0.0:0.0:0.0:1.0	.	269;568	A1A5B4-2;A1A5B4	.;ANO9_HUMAN	G	568	ENSP00000332788:S568G	ENSP00000332788:S568G	S	-	1	0	ANO9	410547	1.000000	0.71417	0.998000	0.56505	0.971000	0.66376	5.026000	0.64103	1.611000	0.50210	0.374000	0.22700	AGC	.	.		0.692	ANO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384116.1	NM_001012302	
AP2A2	161	hgsc.bcm.edu	37	11	1009727	1009727	+	Silent	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr11:1009727T>C	ENST00000448903.2	+	21	2793	c.2652T>C	c.(2650-2652)aaT>aaC	p.N884N	AP2A2_ENST00000534328.1_Intron|AP2A2_ENST00000332231.5_Silent_p.N885N	NM_001242837.1|NM_012305.3	NP_001229766.1|NP_036437.1	O94973	AP2A2_HUMAN	adaptor-related protein complex 2, alpha 2 subunit	884					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)		TTGATCCTAATCCTGCGAATT	0.552																																					p.N885N		Atlas-SNP	.											.	AP2A2	50	.	0			c.T2655C						.						45.0	48.0	47.0					11																	1009727		1837	3977	5814	SO:0001819	synonymous_variant	161	exon21			TCCTAATCCTGCG	AB020706	CCDS44512.1, CCDS73234.1	11p15.5	2008-07-18			ENSG00000183020	ENSG00000183020			562	protein-coding gene	gene with protein product	"""alpha-adaptin C; Huntingtin interacting protein J"", ""adaptin, alpha B"", ""clathrin-associated/assembly/adaptor protein, large, alpha 2"""	607242		CLAPA2, ADTAB		9700202, 2564002	Standard	NM_012305		Approved	DKFZP564D1864, HYPJ, KIAA0899, HIP9	uc001lst.2	O94973	OTTHUMG00000165627	ENST00000448903.2:c.2652T>C	chr11.hg19:g.1009727T>C		136.0	0.0		96.0	4.0	NM_001242837	O75403|Q53ET1|Q96SI8	Silent	SNP	ENST00000448903.2	hg19	CCDS44512.1																																																																																			.	.		0.552	AP2A2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000385431.2	NM_012305	
MUC2	4583	hgsc.bcm.edu	37	11	1083289	1083289	+	Missense_Mutation	SNP	G	G	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr11:1083289G>T	ENST00000441003.2	+	16	2216	c.2189G>T	c.(2188-2190)gGg>gTg	p.G730V	MUC2_ENST00000359061.5_Missense_Mutation_p.G730V	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	730					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CTGGAGGCGGGGGATGTGGTC	0.677																																					p.G730V		Atlas-SNP	.											.	MUC2	614	.	0			c.G2189T						.						25.0	30.0	28.0					11																	1083289		2000	4154	6154	SO:0001583	missense	4583	exon16			AGGCGGGGGATGT	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.2189G>T	chr11.hg19:g.1083289G>T	ENSP00000415183:p.Gly730Val	62.0	0.0		74.0	4.0	NM_002457	Q14878	Missense_Mutation	SNP	ENST00000441003.2	hg19		.	.	.	.	.	.	.	.	.	.	g	9.329	1.060033	0.19987	.	.	ENSG00000198788	ENST00000441003;ENST00000359061	T;T	0.52057	0.68;0.68	4.27	3.32	0.38043	.	0.196730	0.30565	U	0.009341	T	0.70657	0.3249	M	0.91249	3.19	0.58432	D	0.999995	D	0.76494	0.999	D	0.81914	0.995	T	0.75545	-0.3280	10	0.72032	D	0.01	.	9.1982	0.37242	0.1718:0.0:0.8282:0.0	.	730	E7EUV1	.	V	730	ENSP00000415183:G730V;ENSP00000351956:G730V	ENSP00000351956:G730V	G	+	2	0	MUC2	1073289	0.998000	0.40836	0.043000	0.18650	0.037000	0.13140	2.659000	0.46741	2.212000	0.71576	0.457000	0.33378	GGG	.	.		0.677	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457	
TSPAN32	10077	hgsc.bcm.edu	37	11	2337500	2337500	+	Silent	SNP	G	G	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr11:2337500G>A	ENST00000182290.4	+	7	722	c.585G>A	c.(583-585)caG>caA	p.Q195Q	TSPAN32_ENST00000451520.2_Silent_p.Q184Q|TSPAN32_ENST00000381121.3_Silent_p.Q195Q	NM_139022.2	NP_620591.3	Q96QS1	TSN32_HUMAN	tetraspanin 32	195					cell-cell signaling (GO:0007267)|cytoskeleton organization (GO:0007010)|defense response to protozoan (GO:0042832)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of cell proliferation (GO:0008285)|negative regulation of myeloid dendritic cell activation (GO:0030886)|platelet aggregation (GO:0070527)|regulation of defense response to virus (GO:0050688)	cell surface (GO:0009986)|integrin alphaIIb-beta3 complex (GO:0070442)|intracellular (GO:0005622)				breast(1)|central_nervous_system(1)|lung(4)|ovary(1)|skin(1)	8		all_epithelial(84;4.89e-05)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.00791)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.000533)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		GGACACACCAGCAGGTCGCCT	0.687																																					p.Q195Q		Atlas-SNP	.											.	TSPAN32	19	.	0			c.G585A						.						58.0	48.0	51.0					11																	2337500		2200	4295	6495	SO:0001819	synonymous_variant	10077	exon7			ACACCAGCAGGTC	AF176070	CCDS7733.1	11p15	2013-02-14	2005-08-16	2005-08-16	ENSG00000064201	ENSG00000064201		"""Tetraspanins"""	13410	protein-coding gene	gene with protein product		603853	"""pan-hematopoietic expression"""	TSSC6, PHEMX		10072438, 10950922	Standard	NM_139022		Approved		uc001lvy.1	Q96QS1	OTTHUMG00000009762	ENST00000182290.4:c.585G>A	chr11.hg19:g.2337500G>A		203.0	0.0		120.0	6.0	NM_139022	Q96KX4|Q9HC50|Q9HC51|Q9Y5U1	Silent	SNP	ENST00000182290.4	hg19	CCDS7733.1																																																																																			.	.		0.687	TSPAN32-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026912.2	NM_139024	
ZNF195	7748	hgsc.bcm.edu	37	11	3392927	3392927	+	Silent	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr11:3392927A>G	ENST00000399602.4	-	2	136	c.10T>C	c.(10-12)Ttg>Ctg	p.L4L	ZNF195_ENST00000005082.9_Silent_p.L4L|ZNF195_ENST00000526601.1_Silent_p.L8L|ZNF195_ENST00000527386.1_5'UTR|AC123788.1_ENST00000581561.1_RNA|ZNF195_ENST00000528796.1_Silent_p.L4L|ZNF195_ENST00000343338.7_Silent_p.L8L|ZNF195_ENST00000429541.2_Silent_p.L8L|ZNF195_ENST00000438262.2_Silent_p.L8L|ZNF195_ENST00000354599.6_Silent_p.L4L	NM_001130520.2	NP_001123992.1	O14628	ZN195_HUMAN	zinc finger protein 195	4	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)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)		CTGAACGTCAACAGAGTCTGA	0.438																																					p.L8L		Atlas-SNP	.											.	ZNF195	77	.	0			c.T22C						.						62.0	67.0	66.0					11																	3392927		2193	4297	6490	SO:0001819	synonymous_variant	7748	exon3			ACGTCAACAGAGT		CCDS41604.1, CCDS44521.1, CCDS44522.1, CCDS55736.1, CCDS55737.1, CCDS58111.1	11p15.5	2013-01-08			ENSG00000005801	ENSG00000005801		"""Zinc fingers, C2H2-type"", ""-"""	12986	protein-coding gene	gene with protein product		602187				9344677	Standard	NM_001130520		Approved		uc001lxt.3	O14628	OTTHUMG00000011694	ENST00000399602.4:c.10T>C	chr11.hg19:g.3392927A>G		115.0	0.0		79.0	4.0	NM_001256825	A8K234|B3KTK2|B4DEL0|C9JLY9|L7MNK2|Q0VAJ6|Q658N8|Q6ZNA9	Silent	SNP	ENST00000399602.4	hg19	CCDS44522.1																																																																																			.	.		0.438	ZNF195-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000032321.2		
STIM1	6786	hgsc.bcm.edu	37	11	4112725	4112725	+	Silent	SNP	G	G	T	rs201902860		TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr11:4112725G>T	ENST00000300737.4	+	12	2324	c.1755G>T	c.(1753-1755)gcG>gcT	p.A585A	STIM1_ENST00000527651.1_3'UTR|STIM1_ENST00000533977.1_Silent_p.A412A	NM_003156.3	NP_003147.2	Q13586	STIM1_HUMAN	stromal interaction molecule 1	585					activation of store-operated calcium channel activity (GO:0032237)|blood coagulation (GO:0007596)|detection of calcium ion (GO:0005513)|regulation of calcium ion transport (GO:0051924)|regulation of store-operated calcium entry (GO:2001256)|store-operated calcium entry (GO:0002115)	cortical endoplasmic reticulum (GO:0032541)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|growth cone (GO:0030426)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of plasma membrane (GO:0005887)|microtubule (GO:0005874)	calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|microtubule plus-end binding (GO:0051010)|store-operated calcium channel activity (GO:0015279)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|liver(1)|lung(14)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30		Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233)		BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141)		CATTACTGGCGCTGAACCATG	0.622																																					p.A585A		Atlas-SNP	.											STIM1,NS,carcinoma,0,1	STIM1	55	.	0			c.G1755T						.						65.0	70.0	68.0					11																	4112725		2201	4298	6499	SO:0001819	synonymous_variant	6786	exon12			ACTGGCGCTGAAC	BC021300, U52426	CCDS7749.1, CCDS60706.1, CCDS73247.1	11p15.5	2014-09-17			ENSG00000167323	ENSG00000167323		"""Sterile alpha motif (SAM) domain containing"""	11386	protein-coding gene	gene with protein product		605921				8921403, 11463338, 11983428	Standard	NM_003156		Approved	GOK, D11S4896E	uc021qco.1	Q13586	OTTHUMG00000133360	ENST00000300737.4:c.1755G>T	chr11.hg19:g.4112725G>T		92.0	0.0		65.0	3.0	NM_003156	E9PQJ4|Q8N382	Silent	SNP	ENST00000300737.4	hg19	CCDS7749.1	.	.	.	.	.	.	.	.	.	.	G	5.303	0.241362	0.10077	.	.	ENSG00000167323	ENST00000526596	.	.	.	5.44	2.26	0.28386	.	.	.	.	.	T	0.51924	0.1703	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42682	-0.9437	4	.	.	.	-17.1477	4.8331	0.13451	0.2008:0.174:0.6252:0.0	.	.	.	.	L	347	.	.	R	+	2	0	STIM1	4069301	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.584000	0.36589	0.726000	0.32339	0.655000	0.94253	CGC	.	.		0.622	STIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257196.1	NM_003156	
MMP26	56547	hgsc.bcm.edu	37	11	5013445	5013445	+	Splice_Site	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr11:5013445A>G	ENST00000380390.1	+	7	975	c.759A>G	c.(757-759)ggA>ggG	p.G253G	MMP26_ENST00000300762.1_Splice_Site_p.G253G			Q9NRE1	MMP26_HUMAN	matrix metallopeptidase 26	253					collagen catabolic process (GO:0030574)|proteolysis (GO:0006508)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)	Marimastat(DB00786)	TTTCCATAGGAGAAAAATGTT	0.383																																					p.G253G		Atlas-SNP	.											.	MMP26	49	.	0			c.A759G						.						89.0	74.0	79.0					11																	5013445		2201	4298	6499	SO:0001630	splice_region_variant	56547	exon6			CATAGGAGAAAAA	AF230354	CCDS7752.1	11p15	2008-07-18	2005-08-08		ENSG00000167346	ENSG00000167346	3.4.24.1		14249	protein-coding gene	gene with protein product	"""matrilysin 2"""	605470	"""matrix metalloproteinase 26"""			10801841, 10824119	Standard	NM_021801		Approved	endometase, MGC126590, MGC126592	uc001lzv.3	Q9NRE1	OTTHUMG00000066442	ENST00000380390.1:c.758-1A>G	chr11.hg19:g.5013445A>G		187.0	0.0		98.0	4.0	NM_021801	Q3MJ78|Q9GZS2|Q9NR87	Silent	SNP	ENST00000380390.1	hg19	CCDS7752.1																																																																																			.	.		0.383	MMP26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142058.3	NM_021801	Silent
OR52N5	390075	hgsc.bcm.edu	37	11	5799494	5799494	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr11:5799494A>G	ENST00000317093.2	-	1	403	c.371T>C	c.(370-372)cTc>cCc	p.L124P	TRIM5_ENST00000380027.1_Intron	NM_001001922.2	NP_001001922.2	Q8NH56	O52N5_HUMAN	olfactory receptor, family 52, subfamily N, member 5	124						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		CATGAGCATGAGCACCCCAGA	0.493																																					p.L124P		Atlas-SNP	.											.	OR52N5	58	.	0			c.T371C						.						112.0	95.0	101.0					11																	5799494		2120	4085	6205	SO:0001583	missense	390075	exon1			AGCATGAGCACCC	AB065535	CCDS31397.1	11p15.4	2012-08-09			ENSG00000181009	ENSG00000181009		"""GPCR / Class A : Olfactory receptors"""	15231	protein-coding gene	gene with protein product							Standard	NM_001001922		Approved	OR52N5Q	uc010qzn.2	Q8NH56	OTTHUMG00000168799	ENST00000317093.2:c.371T>C	chr11.hg19:g.5799494A>G	ENSP00000322866:p.Leu124Pro	170.0	0.0		107.0	5.0	NM_001001922	B9EH12|Q6IFG2	Missense_Mutation	SNP	ENST00000317093.2	hg19	CCDS31397.1	.	.	.	.	.	.	.	.	.	.	A	18.86	3.713303	0.68730	.	.	ENSG00000181009	ENST00000317093	T	0.07444	3.19	3.7	3.7	0.42460	GPCR, rhodopsin-like superfamily (1);	0.000000	0.28624	U	0.014697	T	0.41581	0.1165	H	0.97758	4.07	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.59402	-0.7461	10	0.87932	D	0	.	11.6494	0.51279	1.0:0.0:0.0:0.0	.	124	Q8NH56	O52N5_HUMAN	P	124	ENSP00000322866:L124P	ENSP00000322866:L124P	L	-	2	0	OR52N5	5756070	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	8.816000	0.91979	1.679000	0.50963	0.405000	0.27470	CTC	.	.		0.493	OR52N5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401141.1	NM_001001922	
APBB1	322	hgsc.bcm.edu	37	11	6415247	6415247	+	IGR	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr11:6415247A>G	ENST00000609360.1	-	0	2642				SMPD1_ENST00000299397.3_Missense_Mutation_p.T444A|SMPD1_ENST00000527275.1_Missense_Mutation_p.T487A|SMPD1_ENST00000342245.4_Missense_Mutation_p.T488A|SMPD1_ENST00000356761.2_Missense_Mutation_p.T432A|APBB1_ENST00000526240.1_5'Flank	NM_001164.3	NP_001155.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)						apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|histone H4 acetylation (GO:0043967)|negative regulation of cell growth (GO:0030308)|negative regulation of thymidylate synthase biosynthetic process (GO:0050760)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|proline-rich region binding (GO:0070064)|transcription factor binding (GO:0008134)			breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		ACCCAGTGCAACTACCTACAT	0.552																																					p.T488A	GBM(147;1810 2556 5672 39622)	Atlas-SNP	.											.	SMPD1	108	.	0			c.A1462G						.						54.0	55.0	55.0					11																	6415247		2201	4296	6497	SO:0001628	intergenic_variant	6609	exon5			AGTGCAACTACCT	L77864	CCDS31410.1, CCDS58114.1, CCDS66015.1, CCDS66016.1, CCDS66017.1, CCDS66018.1	11p15	2008-02-01				ENSG00000166313			581	protein-coding gene	gene with protein product		602709		RIR		8955346, 8894693	Standard	NM_001164		Approved	Fe65	uc001mcy.1	O00213			chr11.hg19:g.6415247A>G		158.0	0.0		113.0	5.0	NM_000543	A1E379|A6NH82|A6NL69|B7Z1J5|B7Z1J6|B7Z2Y0|D3DQT2|Q7Z324|Q96A93|V9GYK0|V9GYT4	Missense_Mutation	SNP	ENST00000609360.1	hg19		.	.	.	.	.	.	.	.	.	.	A	23.1	4.380891	0.82792	.	.	ENSG00000166311	ENST00000299397;ENST00000356761;ENST00000342245;ENST00000527275	D;D;D;D	0.98987	-5.3;-5.3;-5.3;-5.3	4.74	4.74	0.60224	.	0.000000	0.85682	D	0.000000	D	0.99330	0.9765	M	0.90425	3.115	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.85130	0.996;0.997;0.975	D	0.98897	1.0775	10	0.87932	D	0	-33.2474	13.2161	0.59861	1.0:0.0:0.0:0.0	.	487;444;486	E9PKS3;G3XAB5;P17405	.;.;ASM_HUMAN	A	444;432;488;487	ENSP00000299397:T444A;ENSP00000349203:T432A;ENSP00000340409:T488A;ENSP00000435350:T487A	ENSP00000299397:T444A	T	+	1	0	SMPD1	6371823	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	8.798000	0.91888	2.006000	0.58801	0.459000	0.35465	ACT	.	.		0.552	APBB1-023	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000471831.1	NM_001164	
ST5	6764	hgsc.bcm.edu	37	11	8717087	8717087	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr11:8717087T>C	ENST00000534127.1	-	22	3687	c.3302A>G	c.(3301-3303)gAg>gGg	p.E1101G	ST5_ENST00000530991.1_Missense_Mutation_p.E573G|ST5_ENST00000526757.1_Missense_Mutation_p.E681G|RPL27A_ENST00000531102.1_Intron|ST5_ENST00000530438.1_Missense_Mutation_p.E681G|ST5_ENST00000534278.1_Missense_Mutation_p.E292G|ST5_ENST00000313726.6_Missense_Mutation_p.E1101G|ST5_ENST00000357665.1_Missense_Mutation_p.E1101G|ST5_ENST00000526099.1_Missense_Mutation_p.E614G|RP11-152H18.3_ENST00000529883.1_RNA	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	1101					positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		CACTCGCTGCTCAAAAAGGCC	0.493																																					p.E1101G		Atlas-SNP	.											.	ST5	85	.	0			c.A3302G						.						117.0	103.0	108.0					11																	8717087		2201	4296	6497	SO:0001583	missense	6764	exon22			CGCTGCTCAAAAA	U15131	CCDS7791.1, CCDS7792.1	11p15	2012-10-04				ENSG00000166444		"""DENN/MADD domain containing"""	11350	protein-coding gene	gene with protein product	"""DENN/MADD domain containing 2B"""	140750				1390339	Standard	NM_005418		Approved	HTS1, DENND2B, p126	uc001mgt.3	P78524		ENST00000534127.1:c.3302A>G	chr11.hg19:g.8717087T>C	ENSP00000433528:p.Glu1101Gly	78.0	0.0		60.0	4.0	NM_005418	B2R6X7|B3KXQ6|P78523|Q16492|Q7KYY2|Q7KZ12|Q8NE12|Q9BQQ6	Missense_Mutation	SNP	ENST00000534127.1	hg19	CCDS7791.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.409675	0.83340	.	.	ENSG00000166444	ENST00000526757;ENST00000534127;ENST00000313726;ENST00000530991;ENST00000357665;ENST00000526099;ENST00000534278;ENST00000530438	T;T;T;T;T;T;T;T	0.17528	2.74;2.85;2.85;2.76;2.85;2.73;2.27;2.74	5.76	4.63	0.57726	.	0.000000	0.85682	D	0.000000	T	0.36138	0.0956	L	0.58810	1.83	0.58432	D	0.999998	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.78314	0.979;0.991;0.991	T	0.07271	-1.0781	10	0.87932	D	0	-18.1556	11.2879	0.49232	0.0:0.072:0.0:0.928	.	614;681;1101	B4DDL8;P78524-2;P78524	.;.;ST5_HUMAN	G	681;1101;1101;573;1101;614;292;681	ENSP00000435097:E681G;ENSP00000433528:E1101G;ENSP00000319678:E1101G;ENSP00000432887:E573G;ENSP00000350294:E1101G;ENSP00000436808:E614G;ENSP00000433349:E292G;ENSP00000436802:E681G	ENSP00000319678:E1101G	E	-	2	0	ST5	8673663	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	7.472000	0.80996	1.012000	0.39366	0.454000	0.30748	GAG	.	.		0.493	ST5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386518.1	NM_005418	
SWAP70	23075	hgsc.bcm.edu	37	11	9715709	9715709	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr11:9715709T>C	ENST00000318950.6	+	2	219	c.116T>C	c.(115-117)cTg>cCg	p.L39P	SWAP70_ENST00000447399.2_Missense_Mutation_p.L39P	NM_015055.2	NP_055870.2	Q9UH65	SWP70_HUMAN	SWAP switching B-cell complex 70kDa subunit	39					isotype switching (GO:0045190)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|DNA binding (GO:0003677)			NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	11				all cancers(16;1.21e-10)|Epithelial(150;2.81e-09)|BRCA - Breast invasive adenocarcinoma(625;0.00649)		TCCCATAACCTGTGCACGGTG	0.502																																					p.L39P		Atlas-SNP	.											.	SWAP70	40	.	0			c.T116C						.						134.0	121.0	125.0					11																	9715709		2201	4294	6495	SO:0001583	missense	23075	exon2			ATAACCTGTGCAC	AB014540	CCDS31426.1, CCDS73257.1	11p15	2013-01-10			ENSG00000133789	ENSG00000133789		"""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"""	17070	protein-coding gene	gene with protein product		604762				9734811, 10681448	Standard	XM_005252829		Approved	KIAA0640, SWAP-70	uc001mhw.3	Q9UH65	OTTHUMG00000165865	ENST00000318950.6:c.116T>C	chr11.hg19:g.9715709T>C	ENSP00000315630:p.Leu39Pro	144.0	0.0		108.0	5.0	NM_015055	D3DQV1|O75135|Q7LCY6|Q9P061|Q9P0Z8	Missense_Mutation	SNP	ENST00000318950.6	hg19	CCDS31426.1	.	.	.	.	.	.	.	.	.	.	T	16.19	3.054117	0.55218	.	.	ENSG00000133789	ENST00000447399;ENST00000318950	D;T	0.86956	-2.19;2.6	5.93	5.93	0.95920	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.93677	0.7980	M	0.80982	2.52	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	D	0.94345	0.7574	10	0.87932	D	0	-12.0065	16.3943	0.83563	0.0:0.0:0.0:1.0	.	39;39;39	E7EMB1;Q9UH65;B3KUB9	.;SWP70_HUMAN;.	P	39	ENSP00000399056:L39P;ENSP00000315630:L39P	ENSP00000315630:L39P	L	+	2	0	SWAP70	9672285	1.000000	0.71417	1.000000	0.80357	0.575000	0.36095	8.040000	0.89188	2.281000	0.76405	0.533000	0.62120	CTG	.	.		0.502	SWAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386766.2	NM_015055	
AMPD3	272	hgsc.bcm.edu	37	11	10514945	10514945	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr11:10514945T>C	ENST00000396554.3	+	7	1357	c.1016T>C	c.(1015-1017)cTg>cCg	p.L339P	AMPD3_ENST00000444303.2_Missense_Mutation_p.L171P	NM_000480.2	NP_000471.1	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3	330					ADP metabolic process (GO:0046031)|AMP catabolic process (GO:0006196)|ATP metabolic process (GO:0046034)|energy homeostasis (GO:0097009)|IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		AAGCATCTGCTGCGCTTCATC	0.617																																					p.L339P		Atlas-SNP	.											.	AMPD3	68	.	0			c.T1016C						.						117.0	118.0	117.0					11																	10514945		2201	4294	6495	SO:0001583	missense	272	exon7			ATCTGCTGCGCTT	M84722	CCDS7802.1, CCDS41617.1, CCDS44537.1, CCDS53601.1	11p15	2010-02-10	2010-02-10			ENSG00000133805	3.5.4.6		470	protein-coding gene	gene with protein product	"""erythrocyte-specific AMP deaminase"""	102772	"""adenosine monophosphate deaminase (isoform E)"""			1400401	Standard	NM_001172430		Approved		uc001min.1	Q01432		ENST00000396554.3:c.1016T>C	chr11.hg19:g.10514945T>C	ENSP00000379802:p.Leu339Pro	147.0	0.0		85.0	4.0	NM_000480	A0AUX0|B7Z2S2|B7Z763|B7Z877	Missense_Mutation	SNP	ENST00000396554.3	hg19	CCDS7802.1	.	.	.	.	.	.	.	.	.	.	T	24.9	4.585077	0.86748	.	.	ENSG00000133805	ENST00000444303;ENST00000396554;ENST00000396553;ENST00000528723;ENST00000529507	D;D;D;D;D	0.92911	-3.13;-3.13;-3.13;-3.13;-3.13	5.44	5.44	0.79542	Adenosine/AMP deaminase (1);	0.000000	0.85682	D	0.000000	D	0.97167	0.9074	H	0.94264	3.515	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.98306	1.0521	10	0.87932	D	0	-11.9062	15.4924	0.75619	0.0:0.0:0.0:1.0	.	337;330;339	B7Z763;Q01432;A0AUX0	.;AMPD3_HUMAN;.	P	171;339;330;337;330	ENSP00000396000:L171P;ENSP00000379802:L339P;ENSP00000379801:L330P;ENSP00000436987:L337P;ENSP00000431648:L330P	ENSP00000379801:L330P	L	+	2	0	AMPD3	10471521	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	8.040000	0.89188	2.061000	0.61500	0.459000	0.35465	CTG	.	.		0.617	AMPD3-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000385783.2	NM_000480	
DKK3	27122	hgsc.bcm.edu	37	11	12020311	12020311	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr11:12020311T>C	ENST00000396505.2	-	4	605	c.367A>G	c.(367-369)Act>Gct	p.T123A	DKK3_ENST00000525493.1_Missense_Mutation_p.T123A|DKK3_ENST00000326932.4_Missense_Mutation_p.T123A|DKK3_ENST00000527132.1_Intron|DKK3_ENST00000450094.2_Intron	NM_015881.5	NP_056965.3	Q9UBP4	DKK3_HUMAN	dickkopf WNT signaling pathway inhibitor 3	123					adrenal gland development (GO:0030325)|anatomical structure morphogenesis (GO:0009653)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of transcription, DNA-templated (GO:0045892)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|pancreas(1)	8				Epithelial(150;0.000502)		ATTTGTCCAGTCTGGTTGTTG	0.403																																					p.T123A		Atlas-SNP	.											.	DKK3	35	.	0			c.A367G						.						180.0	161.0	168.0					11																	12020311		2201	4294	6495	SO:0001583	missense	27122	exon3			GTCCAGTCTGGTT	AF177396	CCDS7808.1	11p15.3	2013-05-15	2013-05-15		ENSG00000050165	ENSG00000050165			2893	protein-coding gene	gene with protein product	"""regulated in glioma"""	605416	"""dickkopf (Xenopus laevis) homolog 3"", ""dickkopf 3 homolog (Xenopus laevis)"""			10570958	Standard	XM_006718177		Approved	REIC, RIG	uc001mjv.3	Q9UBP4	OTTHUMG00000165709	ENST00000396505.2:c.367A>G	chr11.hg19:g.12020311T>C	ENSP00000379762:p.Thr123Ala	159.0	0.0		114.0	5.0	NM_001018057	A8K1I2|D3DQW1|Q9ULB7	Missense_Mutation	SNP	ENST00000396505.2	hg19	CCDS7808.1	.	.	.	.	.	.	.	.	.	.	T	12.68	2.011963	0.35511	.	.	ENSG00000050165	ENST00000396505;ENST00000326932;ENST00000366345;ENST00000525493;ENST00000533813	T;T;T;T	0.27104	1.95;1.95;1.93;1.69	4.99	4.99	0.66335	.	0.048743	0.85682	D	0.000000	T	0.29620	0.0739	M	0.62723	1.935	0.80722	D	1	B;P	0.48294	0.02;0.908	B;B	0.44224	0.016;0.444	T	0.04255	-1.0965	10	0.33141	T	0.24	-16.6146	12.3088	0.54918	0.0:0.0:0.0:1.0	.	123;123	F6SYF8;Q9UBP4	.;DKK3_HUMAN	A	123;123;66;123;123	ENSP00000379762:T123A;ENSP00000314910:T123A;ENSP00000433112:T123A;ENSP00000435269:T123A	ENSP00000314910:T123A	T	-	1	0	DKK3	11976887	1.000000	0.71417	0.983000	0.44433	0.321000	0.28281	4.075000	0.57584	2.106000	0.64143	0.533000	0.62120	ACT	.	.		0.403	DKK3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385863.1	NM_013253	
MICAL2	9645	hgsc.bcm.edu	37	11	12278379	12278379	+	Silent	SNP	G	G	A	rs555210447		TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr11:12278379G>A	ENST00000256194.4	+	24	3291	c.3003G>A	c.(3001-3003)acG>acA	p.T1001T	MICAL2_ENST00000342902.5_Silent_p.T980T|MICAL2_ENST00000537344.1_Silent_p.T811T|MICAL2_ENST00000527546.1_Silent_p.T811T|MICAL2_ENST00000379612.3_Silent_p.T775T	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	1001	LIM zinc-binding. {ECO:0000255|PROSITE- ProRule:PRU00125}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|heart development (GO:0007507)|heart looping (GO:0001947)|oxidation-reduction process (GO:0055114)|positive regulation of transcription via serum response element binding (GO:0010735)|sulfur oxidation (GO:0019417)	nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|NADPH:sulfur oxidoreductase activity (GO:0043914)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		GCAGCGACACGTGTTACTTCT	0.542																																					p.T1001T		Atlas-SNP	.											.	MICAL2	114	.	0			c.G3003A						.						134.0	107.0	116.0					11																	12278379		2201	4294	6495	SO:0001819	synonymous_variant	9645	exon24			CGACACGTGTTAC	AB018293	CCDS7809.1, CCDS60726.1, CCDS60727.1, CCDS60728.1	11p15.3	2014-08-12	2013-03-26		ENSG00000133816	ENSG00000133816			24693	protein-coding gene	gene with protein product		608881				12110185	Standard	XM_005253249		Approved	KIAA0750	uc001mjz.3	O94851	OTTHUMG00000165744	ENST00000256194.4:c.3003G>A	chr11.hg19:g.12278379G>A		104.0	0.0		69.0	4.0	NM_014632	B4DGZ0|B7Z849|D3DQW5|G3XAC8|Q5KTR3|Q5KTR4|Q7Z3A8	Silent	SNP	ENST00000256194.4	hg19	CCDS7809.1																																																																																			.	.		0.542	MICAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385993.1	NM_014632	
CYP2R1	120227	hgsc.bcm.edu	37	11	14902277	14902277	+	Silent	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr11:14902277A>G	ENST00000334636.5	-	3	451	c.405T>C	c.(403-405)gaT>gaC	p.D135D	CYP2R1_ENST00000526489.1_5'UTR|CYP2R1_ENST00000532378.1_Intron	NM_024514.4	NP_078790.2	Q6VVX0	CP2R1_HUMAN	cytochrome P450, family 2, subfamily R, polypeptide 1	135					small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)|vitamin D3 25-hydroxylase activity (GO:0030343)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14					Cholecalciferol(DB00169)|Ergocalciferol(DB00153)	ATCGTCTGTGATCAACCCATC	0.318																																					p.D135D	NSCLC(173;1584 2058 26117 29365 41534)	Atlas-SNP	.											.	CYP2R1	41	.	0			c.T405C						.						35.0	36.0	36.0					11																	14902277		2197	4292	6489	SO:0001819	synonymous_variant	120227	exon3			TCTGTGATCAACC	AY323817	CCDS7818.1	11p15.2	2008-02-05			ENSG00000186104	ENSG00000186104		"""Cytochrome P450s"""	20580	protein-coding gene	gene with protein product		608713				12464240, 12867411	Standard	XM_005252788		Approved		uc001mlr.3	Q6VVX0	OTTHUMG00000165900	ENST00000334636.5:c.405T>C	chr11.hg19:g.14902277A>G		167.0	0.0		99.0	4.0	NM_024514	Q2M3H3|Q5RT65	Silent	SNP	ENST00000334636.5	hg19	CCDS7818.1																																																																																			.	.		0.318	CYP2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386985.1	NM_024514	
UEVLD	55293	hgsc.bcm.edu	37	11	18557968	18557968	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr11:18557968A>G	ENST00000396197.3	-	10	1137	c.1109T>C	c.(1108-1110)gTg>gCg	p.V370A	UEVLD_ENST00000543987.1_Missense_Mutation_p.V370A|UEVLD_ENST00000320750.6_Missense_Mutation_p.V348A|UEVLD_ENST00000541984.1_Intron|UEVLD_ENST00000379387.4_Missense_Mutation_p.V348A|UEVLD_ENST00000540666.1_5'UTR|UEVLD_ENST00000535484.1_Missense_Mutation_p.V332A	NM_001040697.2|NM_001261384.1	NP_001035787.1|NP_001248313.1			UEV and lactate/malate dehyrogenase domains											endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						GGACAGCTGCACTTGAGAGGT	0.358																																					p.V370A		Atlas-SNP	.											.	UEVLD	58	.	0			c.T1109C						.						173.0	159.0	164.0					11																	18557968		2199	4293	6492	SO:0001583	missense	55293	exon10			AGCTGCACTTGAG	AF503350	CCDS7843.1, CCDS41624.1, CCDS58122.1, CCDS58123.1, CCDS58124.1, CCDS58125.1, CCDS73266.1	11p15.1	2006-07-14			ENSG00000151116	ENSG00000151116			30866	protein-coding gene	gene with protein product		610985				12427560	Standard	NM_001040697		Approved	Attp, UEV3	uc001mot.4	Q8IX04	OTTHUMG00000167729	ENST00000396197.3:c.1109T>C	chr11.hg19:g.18557968A>G	ENSP00000379500:p.Val370Ala	145.0	0.0		85.0	4.0	NM_001040697		Missense_Mutation	SNP	ENST00000396197.3	hg19	CCDS41624.1	.	.	.	.	.	.	.	.	.	.	A	1.581	-0.531559	0.04112	.	.	ENSG00000151116	ENST00000543987;ENST00000535484;ENST00000396197;ENST00000320750;ENST00000379387;ENST00000540110	D;D;T;D;T	0.82711	-1.64;-1.64;-0.13;-1.64;-0.13	5.38	4.12	0.48240	Lactate/malate dehydrogenase, C-terminal (1);Lactate dehydrogenase/glycoside hydrolase, family 4, C-terminal (2);	0.586621	0.17859	N	0.159594	T	0.59155	0.2173	N	0.02539	-0.55	0.80722	D	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.0;0.001	T	0.49716	-0.8910	10	0.30078	T	0.28	-0.7115	6.1795	0.20463	0.8451:0.0:0.1549:0.0	.	348;348;370;370	B4DL43;Q8IX04-3;Q8IX04-2;Q8IX04	.;.;.;UEVLD_HUMAN	A	370;332;370;348;348;147	ENSP00000442974:V370A;ENSP00000441092:V332A;ENSP00000379500:V370A;ENSP00000323353:V348A;ENSP00000368697:V348A	ENSP00000323353:V348A	V	-	2	0	UEVLD	18514544	0.153000	0.22777	0.995000	0.50966	0.206000	0.24218	1.365000	0.34182	0.834000	0.34852	0.374000	0.22700	GTG	.	.		0.358	UEVLD-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395923.2	NM_018314	
NAV2	89797	hgsc.bcm.edu	37	11	20077344	20077344	+	Silent	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr11:20077344T>C	ENST00000396087.3	+	20	4840	c.4741T>C	c.(4741-4743)Ttg>Ctg	p.L1581L	NAV2_ENST00000527559.2_Silent_p.L1510L|NAV2_ENST00000533917.1_Silent_p.L622L|NAV2_ENST00000349880.4_Silent_p.L1558L|NAV2_ENST00000360655.4_Silent_p.L1494L|NAV2_ENST00000311043.8_Silent_p.L622L|NAV2_ENST00000540292.1_Silent_p.L1512L|NAV2_ENST00000396085.1_Silent_p.L1558L	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1581	Ser-rich.				glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						CCAGATGAGCTTGTCCAACCC	0.498																																					p.L1581L		Atlas-SNP	.											.	NAV2	255	.	0			c.T4741C						.						119.0	102.0	107.0					11																	20077344		2203	4300	6503	SO:0001819	synonymous_variant	89797	exon20			ATGAGCTTGTCCA	AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.4741T>C	chr11.hg19:g.20077344T>C		112.0	0.0		73.0	4.0	NM_001244963	A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Silent	SNP	ENST00000396087.3	hg19	CCDS58126.1																																																																																			.	.		0.498	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117	
SLC5A12	159963	hgsc.bcm.edu	37	11	26700317	26700317	+	Silent	SNP	G	G	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr11:26700317G>A	ENST00000396005.3	-	13	1830	c.1521C>T	c.(1519-1521)taC>taT	p.Y507Y		NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	507					sodium ion transport (GO:0006814)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						CCACTGCACTGTAGTAAAGGT	0.458																																					p.Y507Y		Atlas-SNP	.											.	SLC5A12	134	.	0			c.C1521T						.						134.0	133.0	133.0					11																	26700317		1979	4170	6149	SO:0001819	synonymous_variant	159963	exon13			TGCACTGTAGTAA	BC049207	CCDS7860.2	11p14.2	2013-07-19	2013-07-19		ENSG00000148942	ENSG00000148942		"""Solute carriers"""	28750	protein-coding gene	gene with protein product		612455	"""solute carrier family 5 (sodium/glucose cotransporter), member 12"""			12477932	Standard	NM_178498		Approved	MGC52019, SMCT2	uc001mra.2	Q1EHB4	OTTHUMG00000150706	ENST00000396005.3:c.1521C>T	chr11.hg19:g.26700317G>A		139.0	0.0		93.0	4.0	NM_178498	Q86UC7	Silent	SNP	ENST00000396005.3	hg19	CCDS7860.2																																																																																			.	.		0.458	SLC5A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319681.1	NM_178498	
QSER1	79832	hgsc.bcm.edu	37	11	32956867	32956867	+	Silent	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr11:32956867T>C	ENST00000399302.2	+	4	4011	c.3676T>C	c.(3676-3678)Tta>Cta	p.L1226L	QSER1_ENST00000527788.1_Silent_p.L987L	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	1226										breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					CTTGGAACATTTATCTTCATT	0.373																																					p.L1226L		Atlas-SNP	.											.	QSER1	153	.	0			c.T3676C						.						142.0	142.0	142.0					11																	32956867		1829	4083	5912	SO:0001819	synonymous_variant	79832	exon4			GAACATTTATCTT	AL834141	CCDS41631.1	11p13	2014-02-12			ENSG00000060749	ENSG00000060749			26154	protein-coding gene	gene with protein product							Standard	XM_006718323		Approved	FLJ21924	uc001mty.3	Q2KHR3		ENST00000399302.2:c.3676T>C	chr11.hg19:g.32956867T>C		52.0	0.0		54.0	4.0	NM_001076786	Q6ZU30|Q6ZUR5	Silent	SNP	ENST00000399302.2	hg19	CCDS41631.1																																																																																			.	.		0.373	QSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388448.1	NM_024774	
TSPAN18	90139	hgsc.bcm.edu	37	11	44940765	44940765	+	Splice_Site	SNP	C	C	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr11:44940765C>T	ENST00000520358.2	+	7	749	c.334C>T	c.(334-336)Ctc>Ttc	p.L112F	TSPAN18_ENST00000340160.3_Splice_Site_p.L112F			Q96SJ8	TSN18_HUMAN	tetraspanin 18	112						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(6)|lung(3)	10						CTGCCCCCAGCTCACCCGAGA	0.577																																					p.L112F		Atlas-SNP	.											.	TSPAN18	38	.	0			c.C334T						.						144.0	121.0	129.0					11																	44940765		2203	4299	6502	SO:0001630	splice_region_variant	90139	exon6			CCCCAGCTCACCC	AY358087	CCDS7910.1	11p11.2	2013-02-14				ENSG00000157570		"""Tetraspanins"""	20660	protein-coding gene	gene with protein product						11756464	Standard	NM_130783		Approved	TSPAN	uc001mye.4	Q96SJ8		ENST00000520358.2:c.334-1C>T	chr11.hg19:g.44940765C>T		122.0	0.0		92.0	4.0	NM_130783	Q6UY44|Q8NBI9	Missense_Mutation	SNP	ENST00000520358.2	hg19	CCDS7910.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.61|14.61	2.587796|2.587796	0.46110|0.46110	.|.	.|.	ENSG00000157570|ENSG00000157570	ENST00000533786;ENST00000533080;ENST00000520358;ENST00000520999;ENST00000340160|ENST00000518429	T;T;T;T;T|.	0.80824|.	-1.42;-1.42;-1.42;-1.42;-1.42|.	5.15|5.15	5.15|5.15	0.70609|0.70609	Tetraspanin, EC2 domain (1);|.	0.847225|.	0.10765|.	N|.	0.636696|.	T|T	0.65112|0.65112	0.2660|0.2660	M|M	0.63843|0.63843	1.955|1.955	0.80722|0.80722	D|D	1|1	B;P|.	0.51653|.	0.197;0.947|.	B;P|.	0.61275|.	0.068;0.886|.	T|T	0.64149|0.64149	-0.6475|-0.6475	9|5	.|.	.|.	.|.	.|.	11.6434|11.6434	0.51246|0.51246	0.0:0.9133:0.0:0.0867|0.0:0.9133:0.0:0.0867	.|.	112;112|.	Q8WUV1;Q96SJ8|.	.;TSN18_HUMAN|.	F|F	112;47;112;122;112|115	ENSP00000433592:L112F;ENSP00000433362:L47F;ENSP00000429993:L112F;ENSP00000427942:L122F;ENSP00000339820:L112F|.	.|.	L|S	+|+	1|2	0|0	TSPAN18|TSPAN18	44897341|44897341	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.970000|0.970000	0.65996|0.65996	2.879000|2.879000	0.48522|0.48522	2.386000|2.386000	0.81285|0.81285	0.462000|0.462000	0.41574|0.41574	CTC|TCT	.	.		0.577	TSPAN18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376197.3	NM_130783	Missense_Mutation
CKAP5	9793	hgsc.bcm.edu	37	11	46797922	46797922	+	Silent	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr11:46797922T>C	ENST00000529230.1	-	24	2920	c.2874A>G	c.(2872-2874)cgA>cgG	p.R958R	CKAP5_ENST00000354558.3_Silent_p.R958R|CKAP5_ENST00000415402.1_Silent_p.R958R|CKAP5_ENST00000312055.5_Silent_p.R958R			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	958					centrosome organization (GO:0051297)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|RNA transport (GO:0050658)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|protein complex (GO:0043234)|spindle pole (GO:0000922)				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						GGGCAGCAGCTCGAACATTGT	0.423																																					p.R958R	Ovarian(4;85 273 2202 4844 13323)	Atlas-SNP	.											.	CKAP5	134	.	0			c.A2874G						.						71.0	65.0	67.0					11																	46797922		2201	4299	6500	SO:0001819	synonymous_variant	9793	exon24			AGCAGCTCGAACA		CCDS7924.1, CCDS31477.1	11p11.2	2006-09-20			ENSG00000175216	ENSG00000175216			28959	protein-coding gene	gene with protein product		611142				7788527, 8536682	Standard	NM_014756		Approved	ch-TOG, KIAA0097, TOG, TOGp	uc001ndi.2	Q14008	OTTHUMG00000166599	ENST00000529230.1:c.2874A>G	chr11.hg19:g.46797922T>C		127.0	0.0		98.0	4.0	NM_001008938	Q05D70|Q0VAX7|Q0VAX8|Q14668|Q2TA89|Q6NSH4	Silent	SNP	ENST00000529230.1	hg19	CCDS31477.1																																																																																			.	.		0.423	CKAP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390679.1	NM_014756	
MADD	8567	hgsc.bcm.edu	37	11	47298398	47298398	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr11:47298398T>C	ENST00000311027.5	+	5	1244	c.1079T>C	c.(1078-1080)aTg>aCg	p.M360T	MADD_ENST00000395336.3_Missense_Mutation_p.M360T|MADD_ENST00000406482.1_Missense_Mutation_p.M360T|MADD_ENST00000342922.4_Missense_Mutation_p.M360T|MADD_ENST00000395344.3_Missense_Mutation_p.M360T|MADD_ENST00000489415.1_3'UTR|MADD_ENST00000402192.2_Missense_Mutation_p.M360T|MADD_ENST00000349238.3_Missense_Mutation_p.M360T|MADD_ENST00000402799.1_Missense_Mutation_p.M360T|MADD_ENST00000407859.3_Missense_Mutation_p.M360T	NM_003682.3	NP_003673.3			MAP-kinase activating death domain											breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		CCCACCTGCATGGCATCAGCA	0.512																																					p.M360T		Atlas-SNP	.											.	MADD	172	.	0			c.T1079C						.						176.0	134.0	148.0					11																	47298398		2201	4298	6499	SO:0001583	missense	8567	exon5			CCTGCATGGCATC	AB002356	CCDS7930.1, CCDS7931.1, CCDS7932.1, CCDS41642.1, CCDS44586.1, CCDS44587.1, CCDS44588.1, CCDS44589.1, CCDS44590.1	11p11.2	2012-10-04			ENSG00000110514	ENSG00000110514		"""DENN/MADD domain containing"""	6766	protein-coding gene	gene with protein product		603584				9115275, 9796103	Standard	NM_130476		Approved	DENN, KIAA0358, RAB3GEP	uc001ner.1	Q8WXG6	OTTHUMG00000150350	ENST00000311027.5:c.1079T>C	chr11.hg19:g.47298398T>C	ENSP00000310933:p.Met360Thr	105.0	0.0		83.0	4.0	NM_130474		Missense_Mutation	SNP	ENST00000311027.5	hg19	CCDS7930.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.377875	0.82682	.	.	ENSG00000110514	ENST00000342922;ENST00000395342;ENST00000428807;ENST00000402799;ENST00000406482;ENST00000349238;ENST00000311027;ENST00000407859;ENST00000395344;ENST00000395336;ENST00000402192	T;T;T;T;T;T;T;T;T;T	0.12569	2.67;2.67;2.67;2.67;2.67;2.67;2.67;2.67;2.67;2.67	5.93	5.93	0.95920	DENN (3);	0.000000	0.85682	D	0.000000	T	0.44993	0.1320	M	0.88450	2.955	0.80722	D	1	D;D;D;P;D;D;P;D;D;D	0.67145	0.992;0.98;0.995;0.935;0.994;0.988;0.862;0.99;0.996;0.995	D;D;D;P;D;P;P;D;D;D	0.71656	0.958;0.929;0.946;0.755;0.941;0.883;0.547;0.974;0.952;0.946	T	0.53258	-0.8464	10	0.87932	D	0	-26.4751	16.3943	0.83563	0.0:0.0:0.0:1.0	.	360;360;360;360;360;360;360;360;360;360	B5MEE5;A8K8S7;Q8WXG6-7;F8W9P9;Q8WXG6-6;Q8WXG6-5;Q8WXG6-2;Q8WXG6-4;Q8WXG6;Q8WXG6-3	.;.;.;.;.;.;.;.;MADD_HUMAN;.	T	360;360;138;360;360;360;360;360;360;360;360	ENSP00000343902:M360T;ENSP00000398167:M138T;ENSP00000385585:M360T;ENSP00000384435:M360T;ENSP00000304505:M360T;ENSP00000310933:M360T;ENSP00000384204:M360T;ENSP00000378753:M360T;ENSP00000378745:M360T;ENSP00000384287:M360T	ENSP00000310933:M360T	M	+	2	0	MADD	47254974	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.698000	0.84413	2.281000	0.76405	0.533000	0.62120	ATG	.	.		0.512	MADD-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317746.1		
OR4S1	256148	hgsc.bcm.edu	37	11	48328087	48328087	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr11:48328087T>C	ENST00000319988.1	+	1	313	c.313T>C	c.(313-315)Ttt>Ctt	p.F105L		NM_001004725.1	NP_001004725.1	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S, member 1	105						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						TGCCCACTTCTTTGGTGGCAC	0.507																																					p.F105L		Atlas-SNP	.											.	OR4S1	52	.	0			c.T313C						.						120.0	105.0	110.0					11																	48328087		2201	4288	6489	SO:0001583	missense	256148	exon1			CACTTCTTTGGTG	AB065908	CCDS31488.1	11p11.2	2012-08-09			ENSG00000176555	ENSG00000176555		"""GPCR / Class A : Olfactory receptors"""	14705	protein-coding gene	gene with protein product							Standard	NM_001004725		Approved		uc010rhu.2	Q8NGB4	OTTHUMG00000166578	ENST00000319988.1:c.313T>C	chr11.hg19:g.48328087T>C	ENSP00000321447:p.Phe105Leu	135.0	0.0		81.0	4.0	NM_001004725	Q6IFB4	Missense_Mutation	SNP	ENST00000319988.1	hg19	CCDS31488.1	.	.	.	.	.	.	.	.	.	.	T	11.98	1.800804	0.31869	.	.	ENSG00000176555	ENST00000319988	T	0.00381	7.63	5.02	5.02	0.67125	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00271	0.0008	N	0.21240	0.645	0.28779	N	0.899933	B	0.21309	0.054	B	0.20184	0.028	T	0.46119	-0.9214	9	0.48119	T	0.1	.	12.9764	0.58540	0.0:0.0:0.0:1.0	.	105	Q8NGB4	OR4S1_HUMAN	L	105	ENSP00000321447:F105L	ENSP00000321447:F105L	F	+	1	0	OR4S1	48284663	0.001000	0.12720	0.980000	0.43619	0.358000	0.29455	0.312000	0.19397	2.020000	0.59435	0.533000	0.62120	TTT	.	.		0.507	OR4S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390556.1	NM_001004725	
OR8I2	120586	hgsc.bcm.edu	37	11	55861280	55861280	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr11:55861280T>C	ENST00000302124.2	+	1	528	c.497T>C	c.(496-498)tTg>tCg	p.L166S		NM_001003750.1	NP_001003750.1	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	166						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					ATAAGCAGTTTGGCGTTCTGT	0.443																																					p.L166S		Atlas-SNP	.											.,5	OR8I2	119	.	0			c.T497C						.						161.0	151.0	154.0					11																	55861280		2201	4296	6497	SO:0001583	missense	120586	exon1			GCAGTTTGGCGTT	AB065656	CCDS31517.1	11q11	2012-08-09			ENSG00000172154	ENSG00000172154		"""GPCR / Class A : Olfactory receptors"""	15310	protein-coding gene	gene with protein product							Standard	NM_001003750		Approved		uc010rix.2	Q8N0Y5	OTTHUMG00000166831	ENST00000302124.2:c.497T>C	chr11.hg19:g.55861280T>C	ENSP00000303864:p.Leu166Ser	132.0	0.0		79.0	4.0	NM_001003750	B2RNN4|Q6IFC0|Q96RC5	Missense_Mutation	SNP	ENST00000302124.2	hg19	CCDS31517.1	.	.	.	.	.	.	.	.	.	.	T	12.81	2.048263	0.36181	.	.	ENSG00000172154	ENST00000302124	T	0.00296	8.24	4.33	4.33	0.51752	GPCR, rhodopsin-like superfamily (1);	0.000000	0.33092	U	0.005299	T	0.00815	0.0027	M	0.90369	3.11	0.20307	N	0.999914	D	0.89917	1.0	D	0.97110	1.0	T	0.21109	-1.0255	10	0.72032	D	0.01	-12.1653	12.9964	0.58648	0.0:0.0:0.0:1.0	.	166	Q8N0Y5	OR8I2_HUMAN	S	166	ENSP00000303864:L166S	ENSP00000303864:L166S	L	+	2	0	OR8I2	55617856	0.981000	0.34729	0.116000	0.21606	0.040000	0.13550	7.135000	0.77276	1.717000	0.51406	0.362000	0.22060	TTG	.	.		0.443	OR8I2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001003750	
OR5A2	219981	hgsc.bcm.edu	37	11	59189652	59189652	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr11:59189652T>C	ENST00000302040.4	-	1	797	c.775A>G	c.(775-777)Atg>Gtg	p.M259V		NM_001001954.1	NP_001001954.1	Q8NGI9	OR5A2_HUMAN	olfactory receptor, family 5, subfamily A, member 2	259						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(3)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	21						CGCATGTACATGAAGAATCCA	0.502																																					p.M259V		Atlas-SNP	.											.	OR5A2	35	.	0			c.A775G						.						94.0	91.0	92.0					11																	59189652		2201	4295	6496	SO:0001583	missense	219981	exon1			TGTACATGAAGAA	AB065805	CCDS31560.1	11q12.1	2012-08-09			ENSG00000172324	ENSG00000172324		"""GPCR / Class A : Olfactory receptors"""	15249	protein-coding gene	gene with protein product							Standard	NM_001001954		Approved		uc010rkt.2	Q8NGI9	OTTHUMG00000167419	ENST00000302040.4:c.775A>G	chr11.hg19:g.59189652T>C	ENSP00000303834:p.Met259Val	120.0	0.0		89.0	4.0	NM_001001954	B9EH21|Q6IFF4|Q96RB0	Missense_Mutation	SNP	ENST00000302040.4	hg19	CCDS31560.1	.	.	.	.	.	.	.	.	.	.	T	11.35	1.613118	0.28712	.	.	ENSG00000172324	ENST00000302040	T	0.00137	8.68	5.56	-11.1	0.00147	GPCR, rhodopsin-like superfamily (1);	0.175227	0.26792	U	0.022479	T	0.00039	0.0001	N	0.04746	-0.17	0.09310	N	1	B	0.13594	0.008	B	0.15484	0.013	T	0.50030	-0.8875	10	0.52906	T	0.07	.	7.8599	0.29504	0.4591:0.3872:0.0:0.1537	.	259	Q8NGI9	OR5A2_HUMAN	V	259	ENSP00000303834:M259V	ENSP00000303834:M259V	M	-	1	0	OR5A2	58946228	0.000000	0.05858	0.000000	0.03702	0.990000	0.78478	-1.047000	0.03521	-2.295000	0.00662	0.528000	0.53228	ATG	.	.		0.502	OR5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394552.1	NM_001001954	
CD5	921	hgsc.bcm.edu	37	11	60890419	60890419	+	Silent	SNP	G	G	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr11:60890419G>A	ENST00000347785.3	+	7	1306	c.1140G>A	c.(1138-1140)gtG>gtA	p.V380V		NM_014207.3	NP_055022.2	P06127	CD5_HUMAN	CD5 molecule	380					apoptotic signaling pathway (GO:0097190)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|T cell costimulation (GO:0031295)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|scavenger receptor activity (GO:0005044)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)		CAGGCACGGTGGCAAGCATCA	0.622																																					p.V380V		Atlas-SNP	.											.	CD5	52	.	0			c.G1140A						.						80.0	75.0	76.0					11																	60890419		2203	4299	6502	SO:0001819	synonymous_variant	921	exon7			CACGGTGGCAAGC	X04391	CCDS8000.1	11q13	2008-07-18	2006-03-28		ENSG00000110448	ENSG00000110448		"""CD molecules"""	1685	protein-coding gene	gene with protein product		153340	"""CD5 antigen (p56-62)"""	LEU1		1711157	Standard	NM_014207		Approved	T1	uc009ynk.3	P06127	OTTHUMG00000167825	ENST00000347785.3:c.1140G>A	chr11.hg19:g.60890419G>A		144.0	0.0		96.0	4.0	NM_014207	A0N0P4|A8K9I3	Silent	SNP	ENST00000347785.3	hg19	CCDS8000.1																																																																																			.	.		0.622	CD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396465.2	NM_014207	
VWCE	220001	hgsc.bcm.edu	37	11	61042033	61042033	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr11:61042033A>G	ENST00000335613.5	-	12	1905	c.1519T>C	c.(1519-1521)Tgg>Cgg	p.W507R	VWCE_ENST00000535710.1_5'Flank	NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	507	VWFC 3. {ECO:0000255|PROSITE- ProRule:PRU00220}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						TCTGCGTACCACCGGCCGTGG	0.552																																					p.W507R		Atlas-SNP	.											.	VWCE	84	.	0			c.T1519C						.						188.0	121.0	144.0					11																	61042033		2203	4299	6502	SO:0001583	missense	220001	exon12			CGTACCACCGGCC	AK056571	CCDS8002.1	11q12.2	2006-08-04			ENSG00000167992	ENSG00000167992			26487	protein-coding gene	gene with protein product		611115				12869306	Standard	NM_152718		Approved	URG11, FLJ32009, VWC1	uc001nra.3	Q96DN2	OTTHUMG00000168208	ENST00000335613.5:c.1519T>C	chr11.hg19:g.61042033A>G	ENSP00000334186:p.Trp507Arg	96.0	0.0		69.0	4.0	NM_152718	A5PKV0|Q7Z7L6|Q86WK8	Missense_Mutation	SNP	ENST00000335613.5	hg19	CCDS8002.1	.	.	.	.	.	.	.	.	.	.	A	11.73	1.726566	0.30593	.	.	ENSG00000167992	ENST00000335613	T	0.71103	-0.54	4.92	3.71	0.42584	von Willebrand factor, type C (3);	0.337248	0.21989	N	0.066185	T	0.54822	0.1882	N	0.01679	-0.765	0.80722	D	1	D	0.71674	0.998	D	0.68621	0.959	T	0.53041	-0.8494	10	0.15499	T	0.54	.	7.2289	0.26030	0.7046:0.0:0.0:0.2954	.	507	Q96DN2	VWCE_HUMAN	R	507	ENSP00000334186:W507R	ENSP00000334186:W507R	W	-	1	0	VWCE	60798609	0.991000	0.36638	0.993000	0.49108	0.944000	0.59088	2.955000	0.49121	1.847000	0.53656	0.448000	0.29417	TGG	.	.		0.552	VWCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398811.1	NM_152718	
PPP1R32	220004	hgsc.bcm.edu	37	11	61249330	61249330	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr11:61249330A>G	ENST00000338608.2	+	2	174	c.49A>G	c.(49-51)Agt>Ggt	p.S17G	PPP1R32_ENST00000432063.2_Missense_Mutation_p.S17G|RP11-286N22.8_ENST00000543044.1_3'UTR|RP11-286N22.8_ENST00000544880.1_Intron	NM_145017.2	NP_659454.2	Q7Z5V6	PPR32_HUMAN	protein phosphatase 1, regulatory subunit 32	17							phosphatase binding (GO:0019902)										TGTGAAGATGAGTTCGGGGGG	0.627																																					p.S17G		Atlas-SNP	.											.	.	.	.	0			c.A49G						.						33.0	34.0	34.0					11																	61249330		2202	4299	6501	SO:0001583	missense	220004	exon2			AAGATGAGTTCGG	AK057333	CCDS8008.1, CCDS53641.1	11q12.2	2012-04-17	2011-10-11	2011-10-11	ENSG00000162148	ENSG00000162148		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	28869	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 66"""	C11orf66		12477932	Standard	NM_145017		Approved	IIIG9, FLJ32771	uc001nru.2	Q7Z5V6	OTTHUMG00000168176	ENST00000338608.2:c.49A>G	chr11.hg19:g.61249330A>G	ENSP00000344140:p.Ser17Gly	50.0	0.0		44.0	4.0	NM_001170753	Q4G0P4|Q96M77	Missense_Mutation	SNP	ENST00000338608.2	hg19	CCDS8008.1	.	.	.	.	.	.	.	.	.	.	A	24.0	4.479796	0.84747	.	.	ENSG00000162148	ENST00000432063;ENST00000338608	T;T	0.62105	0.05;0.61	4.9	4.9	0.64082	.	0.000000	0.64402	D	0.000002	T	0.77831	0.4189	M	0.77103	2.36	0.80722	D	1	D;D	0.67145	0.996;0.996	D;D	0.77557	0.99;0.99	T	0.80848	-0.1199	10	0.87932	D	0	-19.0894	12.0411	0.53454	1.0:0.0:0.0:0.0	.	17;17	Q7Z5V6-2;Q7Z5V6	.;PPR32_HUMAN	G	17	ENSP00000391560:S17G;ENSP00000344140:S17G	ENSP00000344140:S17G	S	+	1	0	C11orf66	61005906	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.952000	0.63618	1.848000	0.53677	0.418000	0.28097	AGT	.	.		0.627	PPP1R32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398621.1	NM_145017	
MTA2	9219	hgsc.bcm.edu	37	11	62364251	62364251	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr11:62364251T>C	ENST00000278823.2	-	9	1129	c.740A>G	c.(739-741)aAg>aGg	p.K247R	MTA2_ENST00000527204.1_Missense_Mutation_p.K74R|MTA2_ENST00000524902.1_Missense_Mutation_p.K74R	NM_004739.3	NP_004730.2	O94776	MTA2_HUMAN	metastasis associated 1 family, member 2	247	ELM2. {ECO:0000255|PROSITE- ProRule:PRU00512}.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin assembly or disassembly (GO:0006333)|DNA methylation (GO:0006306)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	histone deacetylase complex (GO:0000118)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|histone deacetylase activity (GO:0004407)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						CGACATGGCCTTAGCCAGGTC	0.567																																					p.K247R		Atlas-SNP	.											.	MTA2	54	.	0			c.A740G						.						60.0	59.0	60.0					11																	62364251		2202	4299	6501	SO:0001583	missense	9219	exon9			ATGGCCTTAGCCA	AB016591	CCDS8022.1	11q12-q13.1	2013-01-25	2004-12-15	2003-12-17	ENSG00000149480	ENSG00000149480		"""GATA zinc finger domain containing"""	7411	protein-coding gene	gene with protein product		603947	"""metastasis associated gene family, member 2"""	MTA1L1		9929979	Standard	NM_004739		Approved	MTA1-L1	uc001ntq.2	O94776	OTTHUMG00000167684	ENST00000278823.2:c.740A>G	chr11.hg19:g.62364251T>C	ENSP00000278823:p.Lys247Arg	94.0	0.0		66.0	4.0	NM_004739	Q68DB1|Q9UQB5	Missense_Mutation	SNP	ENST00000278823.2	hg19	CCDS8022.1	.	.	.	.	.	.	.	.	.	.	T	13.22	2.171188	0.38315	.	.	ENSG00000149480	ENST00000278823;ENST00000524902;ENST00000527204	T;T;T	0.48836	1.37;0.8;0.8	5.32	5.32	0.75619	ELM2 domain (1);	0.169949	0.49916	D	0.000123	T	0.36936	0.0985	L	0.41356	1.27	0.39544	D	0.968864	B	0.06786	0.001	B	0.04013	0.001	T	0.29912	-0.9996	10	0.46703	T	0.11	-18.0155	8.1559	0.31169	0.0:0.0904:0.0:0.9096	.	247	O94776	MTA2_HUMAN	R	247;74;74	ENSP00000278823:K247R;ENSP00000431346:K74R;ENSP00000431797:K74R	ENSP00000278823:K247R	K	-	2	0	MTA2	62120827	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	2.229000	0.42990	2.135000	0.66039	0.459000	0.35465	AAG	.	.		0.567	MTA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395578.1	NM_004739	
EML3	256364	hgsc.bcm.edu	37	11	62375693	62375693	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr11:62375693T>C	ENST00000394773.2	-	10	1493	c.1186A>G	c.(1186-1188)Atg>Gtg	p.M396V	EML3_ENST00000494176.2_Missense_Mutation_p.M368V|EML3_ENST00000278845.4_Missense_Mutation_p.M397V|RP11-831H9.3_ENST00000532626.1_RNA|EML3_ENST00000438258.1_5'Flank|EML3_ENST00000531557.1_Missense_Mutation_p.M179V|EML3_ENST00000529309.1_Missense_Mutation_p.M396V	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like 3	396						cytoplasm (GO:0005737)|microtubule (GO:0005874)				biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						GCCAGCTTCATTCCCCGGCTG	0.577																																					p.M396V		Atlas-SNP	.											.	EML3	61	.	0			c.A1186G						.						226.0	234.0	231.0					11																	62375693		2202	4299	6501	SO:0001583	missense	256364	exon10			GCTTCATTCCCCG	AK093146	CCDS8023.2	11q12.3	2013-01-10			ENSG00000149499	ENSG00000149499		"""WD repeat domain containing"""	26666	protein-coding gene	gene with protein product						15225882, 14744259	Standard	NM_153265		Approved	FLJ35827, ELP95	uc001ntu.1	Q32P44	OTTHUMG00000149817	ENST00000394773.2:c.1186A>G	chr11.hg19:g.62375693T>C	ENSP00000378254:p.Met396Val	104.0	0.0		59.0	4.0	NM_153265	Q6ZQW7|Q8NA55	Missense_Mutation	SNP	ENST00000394773.2	hg19	CCDS8023.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	5.135|5.135	0.210565|0.210565	0.09757|0.09757	.|.	.|.	ENSG00000149499|ENSG00000149499	ENST00000394773;ENST00000278845;ENST00000531557;ENST00000494176;ENST00000529309|ENST00000394776	T;T;T;T;T|.	0.40756|.	1.11;1.11;1.02;1.02;1.02|.	5.92|5.92	-2.11|-2.11	0.07187|0.07187	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);|.	0.416774|.	0.27219|.	N|.	0.020378|.	T|T	0.10809|0.10809	0.0264|0.0264	N|N	0.00841|0.00841	-1.15|-1.15	0.09310|0.09310	N|N	1|1	B;B;B;B;B|.	0.02656|.	0.0;0.0;0.0;0.0;0.0|.	B;B;B;B;B|.	0.01281|.	0.0;0.0;0.0;0.0;0.0|.	T|T	0.33904|0.33904	-0.9850|-0.9850	10|5	0.32370|.	T|.	0.25|.	-16.4808|-16.4808	12.8237|12.8237	0.57708|0.57708	0.0:0.4:0.0:0.6|0.0:0.4:0.0:0.6	.|.	396;396;179;397;368|.	Q32P44-2;Q32P44;G3V195;B7WPE2;G3V1D0|.	.;EMAL3_HUMAN;.;.;.|.	V|S	396;397;179;368;396|390	ENSP00000378254:M396V;ENSP00000278845:M397V;ENSP00000433417:M179V;ENSP00000435064:M368V;ENSP00000434513:M396V|.	ENSP00000278845:M397V|.	M|N	-|-	1|2	0|0	EML3|EML3	62132269|62132269	0.000000|0.000000	0.05858|0.05858	0.006000|0.006000	0.13384|0.13384	0.889000|0.889000	0.51656|0.51656	0.119000|0.119000	0.15626|0.15626	-0.640000|-0.640000	0.05495|0.05495	-1.773000|-1.773000	0.00660|0.00660	ATG|AAT	.	.		0.577	EML3-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313432.1	NM_153265	
STIP1	10963	hgsc.bcm.edu	37	11	63970927	63970927	+	Silent	SNP	G	G	T	rs144539134	byFrequency	TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr11:63970927G>T	ENST00000305218.4	+	13	1539	c.1392G>T	c.(1390-1392)gcG>gcT	p.A464A	STIP1_ENST00000538945.1_Silent_p.A440A|STIP1_ENST00000358794.5_Silent_p.A511A	NM_006819.2	NP_006810.1	P31948	STIP1_HUMAN	stress-induced phosphoprotein 1	464					response to stress (GO:0006950)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(4)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(1)|skin(1)	27						TGCAGGAGGCGGCAGACGGCT	0.587																																					p.A464A		Atlas-SNP	.											.	STIP1	63	.	0			c.G1392T						.						40.0	35.0	37.0					11																	63970927		2201	4297	6498	SO:0001819	synonymous_variant	10963	exon13			GGAGGCGGCAGAC	BC039299	CCDS8058.1, CCDS60827.1, CCDS60828.1	11q13	2014-01-13	2014-01-13		ENSG00000168439	ENSG00000168439		"""Tetratricopeptide (TTC) repeat domain containing"""	11387	protein-coding gene	gene with protein product	"""Hsp70/Hsp90-organizing protein"""	605063	"""stress-induced-phosphoprotein 1"""			1569099	Standard	NM_006819		Approved	HOP, STI1	uc001nyk.1	P31948	OTTHUMG00000167789	ENST00000305218.4:c.1392G>T	chr11.hg19:g.63970927G>T		94.0	0.0		67.0	4.0	NM_006819	B4DM70|F5H0T1|G3XAD8|Q3ZCU9|Q5TZU9	Silent	SNP	ENST00000305218.4	hg19	CCDS8058.1																																																																																			.	G|1.000;A|0.000		0.587	STIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396289.2	NM_006819	
TM7SF2	7108	hgsc.bcm.edu	37	11	64880311	64880311	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr11:64880311A>G	ENST00000279263.7	+	3	440	c.278A>G	c.(277-279)aAg>aGg	p.K93R	AP003068.9_ENST00000528887.1_RNA|TM7SF2_ENST00000540748.1_Intron|TM7SF2_ENST00000345348.5_Missense_Mutation_p.K93R|TM7SF2_ENST00000531029.1_3'UTR	NM_003273.2	NP_003264.2	O76062	ERG24_HUMAN	transmembrane 7 superfamily member 2	93					cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	delta14-sterol reductase activity (GO:0050613)			lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TTGAAGGACAAGAGTCGCCTG	0.672											OREG0021072	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.K93R		Atlas-SNP	.											.	TM7SF2	30	.	0			c.A278G						.						4.0	5.0	5.0					11																	64880311		1750	3818	5568	SO:0001583	missense	7108	exon3			AGGACAAGAGTCG	BC012857	CCDS41669.1, CCDS60846.1	11q13.1	2013-05-23			ENSG00000149809	ENSG00000149809	1.3.1.70		11863	protein-coding gene	gene with protein product	"""delta(14)-sterol reductase"""	603414				9615229, 9286704	Standard	NM_003273		Approved	ANG1, DHCR14A, NET47	uc001oct.4	O76062	OTTHUMG00000165603	ENST00000279263.7:c.278A>G	chr11.hg19:g.64880311A>G	ENSP00000279263:p.Lys93Arg	105.0	0.0	134	75.0	4.0	NM_003273	A8K4H0|O95982|Q8IY06|Q96E64|Q96GZ1	Missense_Mutation	SNP	ENST00000279263.7	hg19	CCDS41669.1	.	.	.	.	.	.	.	.	.	.	A	17.35	3.367871	0.61513	.	.	ENSG00000149809	ENST00000279263;ENST00000524986;ENST00000525385;ENST00000345348;ENST00000531321;ENST00000529414;ENST00000530750	D;D;D;D;D;D;D	0.99005	-4.63;-4.63;-4.63;-4.63;-5.32;-4.63;-4.63	4.77	4.77	0.60923	.	0.280909	0.41396	D	0.000894	D	0.97195	0.9083	L	0.38838	1.175	0.80722	D	1	B;B	0.29552	0.248;0.146	B;B	0.35813	0.211;0.143	D	0.96562	0.9416	10	0.72032	D	0.01	-12.0661	10.6087	0.45408	1.0:0.0:0.0:0.0	.	93;93	O76062-2;O76062	.;ERG24_HUMAN	R	93;64;64;93;64;93;93	ENSP00000279263:K93R;ENSP00000435972:K64R;ENSP00000433325:K64R;ENSP00000329520:K93R;ENSP00000431300:K64R;ENSP00000433275:K93R;ENSP00000432413:K93R	ENSP00000279263:K93R	K	+	2	0	TM7SF2	64636887	1.000000	0.71417	1.000000	0.80357	0.820000	0.46376	3.283000	0.51701	2.013000	0.59113	0.459000	0.35465	AAG	.	.		0.672	TM7SF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385234.1	NM_003273	
EHBP1L1	254102	hgsc.bcm.edu	37	11	65349836	65349836	+	Missense_Mutation	SNP	G	G	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr11:65349836G>A	ENST00000309295.4	+	9	1958	c.1693G>A	c.(1693-1695)Ggg>Agg	p.G565R		NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	565	Glu-rich.					membrane (GO:0016020)				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						GGCAGAAGCTGGGGGTTCAGG	0.607																																					p.G565R		Atlas-SNP	.											.	EHBP1L1	64	.	0			c.G1693A						.						18.0	20.0	19.0					11																	65349836		1862	4086	5948	SO:0001583	missense	254102	exon9			GAAGCTGGGGGTT	AL834433	CCDS44649.1	11q13.1	2008-02-05			ENSG00000173442	ENSG00000173442			30682	protein-coding gene	gene with protein product							Standard	NM_001099409		Approved	DKFZp762C186, TANGERIN	uc001oeo.4	Q8N3D4	OTTHUMG00000166520	ENST00000309295.4:c.1693G>A	chr11.hg19:g.65349836G>A	ENSP00000312671:p.Gly565Arg	50.0	0.0		39.0	9.0	NM_001099409	Q8TB89|Q9H7M7	Missense_Mutation	SNP	ENST00000309295.4	hg19	CCDS44649.1	.	.	.	.	.	.	.	.	.	.	G	15.57	2.872483	0.51695	.	.	ENSG00000173442	ENST00000309295	T	0.68181	-0.31	5.16	2.21	0.28008	.	0.495552	0.17197	N	0.183269	T	0.51075	0.1653	L	0.36672	1.1	0.09310	N	1	B	0.17852	0.024	B	0.12156	0.007	T	0.47898	-0.9081	10	0.87932	D	0	.	4.502	0.11869	0.1709:0.0:0.5245:0.3046	.	565	Q8N3D4	EH1L1_HUMAN	R	565	ENSP00000312671:G565R	ENSP00000312671:G565R	G	+	1	0	EHBP1L1	65106412	0.000000	0.05858	0.029000	0.17559	0.036000	0.12997	0.357000	0.20199	0.559000	0.29153	0.655000	0.94253	GGG	.	.		0.607	EHBP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390145.1	XM_170658	
RELA	5970	hgsc.bcm.edu	37	11	65422122	65422122	+	Silent	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr11:65422122A>G	ENST00000406246.3	-	11	1644	c.1383T>C	c.(1381-1383)gcT>gcC	p.A461A	RELA_ENST00000308639.9_Silent_p.A458A|RELA_ENST00000525693.1_3'UTR	NM_001243984.1|NM_001243985.1|NM_021975.3	NP_001230913.1|NP_001230914.1|NP_068810.3	Q04206	TF65_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog A	461					acetaldehyde metabolic process (GO:0006117)|aging (GO:0007568)|cellular defense response (GO:0006968)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to nicotine (GO:0071316)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to tumor necrosis factor (GO:0071356)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|Fc-epsilon receptor signaling pathway (GO:0038095)|hair follicle development (GO:0001942)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|liver development (GO:0001889)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of Schwann cell differentiation (GO:0014040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|regulation of inflammatory response (GO:0050727)|response to amino acid (GO:0043200)|response to cAMP (GO:0051591)|response to cobalamin (GO:0033590)|response to drug (GO:0042493)|response to insulin (GO:0032868)|response to interleukin-1 (GO:0070555)|response to mechanical stimulus (GO:0009612)|response to morphine (GO:0043278)|response to muramyl dipeptide (GO:0032495)|response to organic substance (GO:0010033)|response to progesterone (GO:0032570)|response to UV-B (GO:0010224)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|phosphate ion binding (GO:0042301)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|repressing transcription factor binding (GO:0070491)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1)	19						CTGTGAacacagctgggtctg	0.602																																					p.A461A		Atlas-SNP	.											.	RELA	44	.	0			c.T1383C						.						50.0	49.0	50.0					11																	65422122		2201	4297	6498	SO:0001819	synonymous_variant	5970	exon11			GAACACAGCTGGG	Z22951	CCDS31609.1, CCDS44651.1, CCDS73322.1	11q13	2013-07-09	2013-07-09		ENSG00000173039	ENSG00000173039			9955	protein-coding gene	gene with protein product		164014	"""nuclear factor of kappa light polypeptide gene enhancer in B-cells 3"""	NFKB3		2001591	Standard	NM_021975		Approved	p65	uc001ofg.3	Q04206	OTTHUMG00000166566	ENST00000406246.3:c.1383T>C	chr11.hg19:g.65422122A>G		132.0	0.0		91.0	4.0	NM_021975	Q6GTV1|Q6SLK1	Silent	SNP	ENST00000406246.3	hg19	CCDS31609.1																																																																																			.	.		0.602	RELA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390457.2	NM_021975	
RBM14	10432	hgsc.bcm.edu	37	11	66392365	66392365	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr11:66392365T>C	ENST00000310137.4	+	2	1157	c.1018T>C	c.(1018-1020)Tcc>Ccc	p.S340P	RBM14-RBM4_ENST00000511114.1_Intron|RBM14_ENST00000409738.4_Intron|RBM14-RBM4_ENST00000412278.2_Intron|RBM4_ENST00000503028.2_Intron|RBM14_ENST00000393979.3_Intron|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000514361.3_Intron	NM_006328.3	NP_006319.1	Q96PK6	RBM14_HUMAN	RNA binding motif protein 14	340	Ala-rich.|TRBP-interacting domain.				DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|glucocorticoid receptor signaling pathway (GO:0042921)|histone deacetylation (GO:0016575)|intracellular estrogen receptor signaling pathway (GO:0030520)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to hormone (GO:0009725)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor complex (GO:0005667)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)		RBM14/PACS1(2)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						CTCCCTTGCCTCCTATGGTAA	0.612																																					p.S340P		Atlas-SNP	.											.	RBM14	59	.	0			c.T1018C						.						75.0	81.0	79.0					11																	66392365		2200	4295	6495	SO:0001583	missense	10432	exon2			CTTGCCTCCTATG	AF080561	CCDS8147.1, CCDS55772.1, CCDS55773.1	11q13.2	2013-02-12			ENSG00000239306	ENSG00000239306		"""RNA binding motif (RRM) containing"""	14219	protein-coding gene	gene with protein product	"""coactivator activator"", ""SYT interacting protein"""	612409				9285794	Standard	NM_006328		Approved	SIP, SYTIP1, COAA, DKFZp779J0927	uc001oit.3	Q96PK6	OTTHUMG00000140380	ENST00000310137.4:c.1018T>C	chr11.hg19:g.66392365T>C	ENSP00000311747:p.Ser340Pro	152.0	0.0		90.0	4.0	NM_006328	B0LM41|B3KMN4|D6RGD8|O75932|Q2PYN1|Q53GV1|Q68DQ9|Q96PK5	Missense_Mutation	SNP	ENST00000310137.4	hg19	CCDS8147.1	.	.	.	.	.	.	.	.	.	.	T	15.24	2.775147	0.49786	.	.	ENSG00000239306	ENST00000310137	D	0.84298	-1.83	4.75	4.75	0.60458	.	0.263452	0.38381	N	0.001711	D	0.83050	0.5170	L	0.27053	0.805	0.80722	D	1	P	0.47604	0.898	P	0.52454	0.699	D	0.84795	0.0781	10	0.62326	D	0.03	-6.4028	12.2386	0.54530	0.0:0.0:0.0:1.0	.	340	Q96PK6	RBM14_HUMAN	P	340	ENSP00000311747:S340P	ENSP00000311747:S340P	S	+	1	0	RBM14	66148941	0.837000	0.29446	1.000000	0.80357	0.967000	0.64934	0.558000	0.23469	1.991000	0.58162	0.460000	0.39030	TCC	.	.		0.612	RBM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277128.1	NM_006328	
ANKRD13D	338692	hgsc.bcm.edu	37	11	67068507	67068507	+	Missense_Mutation	SNP	G	G	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr11:67068507G>A	ENST00000447274.2	+	11	2034	c.859G>A	c.(859-861)Ggt>Agt	p.G287S	ANKRD13D_ENST00000514166.1_Missense_Mutation_p.G287S|ANKRD13D_ENST00000308440.6_Missense_Mutation_p.G287S|ANKRD13D_ENST00000511455.2_Missense_Mutation_p.G374S|ANKRD13D_ENST00000515828.1_Missense_Mutation_p.G24S|SSH3_ENST00000308127.4_5'Flank|SSH3_ENST00000376757.5_5'Flank|SSH3_ENST00000308298.7_5'Flank			Q6ZTN6	AN13D_HUMAN	ankyrin repeat domain 13 family, member D	287						endosome (GO:0005768)|plasma membrane (GO:0005886)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)	9			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			GCTCTCCCTGGGTGACCAGGT	0.612																																					p.G374S		Atlas-SNP	.											.	ANKRD13D	71	.	0			c.G1120A						.						134.0	108.0	117.0					11																	67068507		2200	4295	6495	SO:0001583	missense	338692	exon11			TCCCTGGGTGACC	AK027313	CCDS31616.1, CCDS31616.2	11q13.2	2013-01-11		2005-08-09	ENSG00000172932	ENSG00000172932		"""Ankyrin repeat domain containing"""	27880	protein-coding gene	gene with protein product		615126					Standard	NM_207354		Approved		uc001okd.2	Q6ZTN6	OTTHUMG00000162929	ENST00000447274.2:c.859G>A	chr11.hg19:g.67068507G>A	ENSP00000402616:p.Gly287Ser	137.0	0.0		100.0	4.0	NM_207354	D6RCN6|Q0VAK0|Q0VGC3|Q6ZVD0|Q86SU1	Missense_Mutation	SNP	ENST00000447274.2	hg19		.	.	.	.	.	.	.	.	.	.	G	13.96	2.392368	0.42410	.	.	ENSG00000172932	ENST00000447274;ENST00000511455;ENST00000308440;ENST00000514166;ENST00000515828	T;T;T;T;T	0.39787	1.06;1.06;1.06;1.06;1.06	4.86	4.86	0.63082	.	0.067094	0.64402	D	0.000010	T	0.27241	0.0668	N	0.08118	0	0.52501	D	0.999958	D;B;B	0.56287	0.975;0.02;0.013	P;B;B	0.45610	0.487;0.036;0.017	T	0.06338	-1.0832	10	0.09338	T	0.73	-20.4443	17.7879	0.88543	0.0:0.0:1.0:0.0	.	24;374;287	Q6ZTN6-2;Q6ZTN6-3;Q6ZTN6	.;.;AN13D_HUMAN	S	287;374;287;287;24	ENSP00000402616:G287S;ENSP00000427130:G374S;ENSP00000310874:G287S;ENSP00000444404:G287S;ENSP00000443977:G24S	ENSP00000310874:G287S	G	+	1	0	ANKRD13D	66825083	1.000000	0.71417	1.000000	0.80357	0.461000	0.32589	3.234000	0.51320	2.517000	0.84864	0.561000	0.74099	GGT	.	.		0.612	ANKRD13D-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000371067.2	NM_207354	
TBX10	347853	hgsc.bcm.edu	37	11	67406938	67406938	+	Splice_Site	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr11:67406938T>C	ENST00000335385.3	-	1	93	c.6A>G	c.(4-6)gcA>gcG	p.A2A		NM_005995.4	NP_005986.2	O75333	TBX10_HUMAN	T-box 10	2					anatomical structure morphogenesis (GO:0009653)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|lung(4)|ovary(1)	7						GTAGCCTACCTGCCATGGAGA	0.637																																					p.A2A		Atlas-SNP	.											.	TBX10	25	.	0			c.A6G						.						79.0	56.0	64.0					11																	67406938		2200	4294	6494	SO:0001630	splice_region_variant	347853	exon1			CCTACCTGCCATG	AH006177	CCDS31621.1	11q13.2	2005-10-11	2004-10-05		ENSG00000167800	ENSG00000167800		"""T-boxes"""	11593	protein-coding gene	gene with protein product		604648	"""T-box 7"""	TBX7		9545502	Standard	NM_005995		Approved	TBX13	uc001omp.3	O75333	OTTHUMG00000167291	ENST00000335385.3:c.7+1A>G	chr11.hg19:g.67406938T>C		99.0	0.0		66.0	4.0	NM_005995	Q14D64|Q86XS3	Silent	SNP	ENST00000335385.3	hg19	CCDS31621.1																																																																																			.	.		0.637	TBX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394034.1	NM_005995	Silent
IGHMBP2	3508	hgsc.bcm.edu	37	11	68682309	68682309	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr11:68682309T>C	ENST00000255078.3	+	6	841	c.730T>C	c.(730-732)Tcc>Ccc	p.S244P	IGHMBP2_ENST00000539224.1_3'UTR	NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	244					ATP catabolic process (GO:0006200)|cell death (GO:0008219)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|protein homooligomerization (GO:0051260)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)	axon (GO:0030424)|cytoplasm (GO:0005737)|growth cone (GO:0030426)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|ATP-dependent 5'-3' RNA helicase activity (GO:0032575)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|ribosome binding (GO:0043022)|RNA binding (GO:0003723)|RNA-dependent ATPase activity (GO:0008186)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)|tRNA binding (GO:0000049)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CTGCGCCCCCTCCAACATCGC	0.532																																					p.S244P		Atlas-SNP	.											.	IGHMBP2	83	.	0			c.T730C						.						92.0	92.0	92.0					11																	68682309		2200	4294	6494	SO:0001583	missense	3508	exon6			GCCCCCTCCAACA	L14754	CCDS8187.1	11q13.3	2014-09-17			ENSG00000132740	ENSG00000132740		"""Zinc fingers, AN1-type domain containing"""	5542	protein-coding gene	gene with protein product	"""cardiac transcription factor 1"", ""zinc finger, AN1-type domain 7"""	600502				8349627	Standard	NM_002180		Approved	ZFAND7, SMUBP2, CATF1, SMARD1, HCSA, HMN6	uc001ook.1	P38935	OTTHUMG00000167894	ENST00000255078.3:c.730T>C	chr11.hg19:g.68682309T>C	ENSP00000255078:p.Ser244Pro	102.0	0.0		77.0	4.0	NM_002180	A0PJD2|Q00443|Q14177	Missense_Mutation	SNP	ENST00000255078.3	hg19	CCDS8187.1	.	.	.	.	.	.	.	.	.	.	T	19.47	3.834165	0.71373	.	.	ENSG00000132740	ENST00000255078	D	0.83914	-1.78	3.6	3.6	0.41247	DEAD-like helicase (1);Helicase/UvrB domain (1);ATPase, AAA+ type, core (1);	0.266189	0.39020	N	0.001484	D	0.94013	0.8082	H	0.98295	4.195	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95123	0.8248	10	0.87932	D	0	-15.1302	11.6022	0.51010	0.0:0.0:0.0:1.0	.	244	P38935	SMBP2_HUMAN	P	244	ENSP00000255078:S244P	ENSP00000255078:S244P	S	+	1	0	IGHMBP2	68438885	1.000000	0.71417	0.948000	0.38648	0.648000	0.38561	7.265000	0.78442	1.641000	0.50575	0.454000	0.30748	TCC	.	.		0.532	IGHMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396862.1	NM_002180	
NUMA1	4926	hgsc.bcm.edu	37	11	71717144	71717144	+	Missense_Mutation	SNP	G	G	T	rs148430833		TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr11:71717144G>T	ENST00000393695.3	-	22	5960	c.5629C>A	c.(5629-5631)Cgc>Agc	p.R1877S	NUMA1_ENST00000358965.6_Missense_Mutation_p.R1863S|NUMA1_ENST00000351960.6_Missense_Mutation_p.R741S	NM_006185.2	NP_006176.2			nuclear mitotic apparatus protein 1									p.R1877C(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						GTGGTGGGGCGGTAGCCAGGC	0.612			T	RARA	APL																																p.R1877S		Atlas-SNP	.		Dom	yes		11	11q13	4926	nuclear mitotic apparatus protein 1		L	NUMA1,NS,carcinoma,0,1	NUMA1	142	.	1	Substitution - Missense(1)	endometrium(1)	c.C5629A						.						79.0	85.0	83.0					11																	71717144		2200	4293	6493	SO:0001583	missense	4926	exon22			TGGGGCGGTAGCC	Z11584	CCDS31633.1, CCDS66156.1	11q13	2008-02-05				ENSG00000137497			8059	protein-coding gene	gene with protein product		164009				8406455	Standard	NM_006185		Approved		uc001orl.1	Q14980		ENST00000393695.3:c.5629C>A	chr11.hg19:g.71717144G>T	ENSP00000377298:p.Arg1877Ser	137.0	1.0		65.0	3.0	NM_006185		Missense_Mutation	SNP	ENST00000393695.3	hg19	CCDS31633.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.952972	0.73902	.	.	ENSG00000137497	ENST00000351960;ENST00000358965;ENST00000393695;ENST00000359652;ENST00000536544	T;T;T	0.29397	1.57;2.01;2.01	5.11	4.14	0.48551	.	0.000000	0.52532	D	0.000080	T	0.42245	0.1194	L	0.27053	0.805	0.38326	D	0.94366	D;D;D;D	0.89917	0.999;1.0;0.999;0.999	D;D;D;D	0.87578	0.983;0.998;0.983;0.937	T	0.48246	-0.9052	10	0.87932	D	0	.	14.8836	0.70550	0.0:0.0:0.847:0.153	.	1883;1863;1877;741	Q4LE64;Q14980-2;Q14980;Q9BTE9	.;.;NUMA1_HUMAN;.	S	741;1863;1877;1426;850	ENSP00000260051:R741S;ENSP00000351851:R1863S;ENSP00000377298:R1877S	ENSP00000260051:R741S	R	-	1	0	NUMA1	71394792	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	2.304000	0.43655	2.652000	0.90054	0.655000	0.94253	CGC	.	G|1.000;A|0.000		0.612	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395769.1		
GDPD5	81544	hgsc.bcm.edu	37	11	75152777	75152777	+	Silent	SNP	G	G	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr11:75152777G>A	ENST00000336898.3	-	13	2076	c.1239C>T	c.(1237-1239)ggC>ggT	p.G413G	GDPD5_ENST00000533784.1_Silent_p.G294G|GDPD5_ENST00000529721.1_Silent_p.G413G|GDPD5_ENST00000443276.2_3'UTR|GDPD5_ENST00000526177.1_Silent_p.G275G|GDPD5_ENST00000376282.3_Silent_p.G294G|GDPD5_ENST00000533805.1_Silent_p.G168G	NM_030792.6	NP_110419.5	Q8WTR4	GDPD5_HUMAN	glycerophosphodiester phosphodiesterase domain containing 5	413	GP-PDE.				cerebral cortex neuron differentiation (GO:0021895)|glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)|negative regulation of Notch signaling pathway (GO:0045746)|neuron projection development (GO:0031175)|positive regulation of neuron differentiation (GO:0045666)|regulation of timing of cell differentiation (GO:0048505)|spinal cord motor neuron differentiation (GO:0021522)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	glycerophosphodiester phosphodiesterase activity (GO:0008889)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2)	20						CCTCCTTGGAGCCTGATGTCT	0.662																																					p.G413G		Atlas-SNP	.											.	GDPD5	49	.	0			c.C1239T						.						35.0	33.0	34.0					11																	75152777		2200	4293	6493	SO:0001819	synonymous_variant	81544	exon13			CTTGGAGCCTGAT	AF318377	CCDS8238.1	11q13.4-q13.5	2011-01-25				ENSG00000158555			28804	protein-coding gene	gene with protein product		609632				18667693, 17275818	Standard	NM_030792		Approved	PP1665, GDE2	uc001owp.4	Q8WTR4		ENST00000336898.3:c.1239C>T	chr11.hg19:g.75152777G>A		112.0	0.0		60.0	4.0	NM_030792	Q49AQ5|Q6UX76|Q7Z4S0|Q8N781|Q8NCB7|Q8TB77	Silent	SNP	ENST00000336898.3	hg19	CCDS8238.1																																																																																			.	.		0.662	GDPD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384409.1	NM_030792	
SERPINH1	871	hgsc.bcm.edu	37	11	75279838	75279838	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr11:75279838T>C	ENST00000524558.1	+	3	2120	c.685T>C	c.(685-687)Tcc>Ccc	p.S229P	SERPINH1_ENST00000358171.3_Missense_Mutation_p.S229P|SERPINH1_ENST00000533603.1_Missense_Mutation_p.S229P|SERPINH1_ENST00000530284.1_Missense_Mutation_p.S229P|SERPINH1_ENST00000525876.1_Missense_Mutation_p.S12P			P50454	SERPH_HUMAN	serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)	229					chondrocyte development involved in endochondral bone morphogenesis (GO:0003433)|collagen biosynthetic process (GO:0032964)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)|protein maturation (GO:0051604)|regulation of proteolysis (GO:0030162)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(4)|large_intestine(3)|liver(1)|lung(4)|ovary(2)|stomach(1)	15	Ovarian(111;0.11)					GGTGACTCGGTCCTATACCGT	0.557																																					p.S229P		Atlas-SNP	.											.	SERPINH1	33	.	0			c.T685C						.						153.0	117.0	129.0					11																	75279838		2200	4293	6493	SO:0001583	missense	871	exon3			ACTCGGTCCTATA	X61598	CCDS8239.1	11q13.5	2014-02-18	2005-08-18		ENSG00000149257	ENSG00000149257		"""Serine (or cysteine) peptidase inhibitors"""	1546	protein-coding gene	gene with protein product		600943	"""serine (or cysteine) proteinase inhibitor, clade H (heat shock protein 47), member 2"", ""serine (or cysteine) proteinase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)"""	CBP1, CBP2, SERPINH2		7656593, 9533029, 24172014	Standard	NM_001207014		Approved	HSP47, colligen	uc001owr.3	P50454	OTTHUMG00000165362	ENST00000524558.1:c.685T>C	chr11.hg19:g.75279838T>C	ENSP00000434412:p.Ser229Pro	237.0	0.0		121.0	5.0	NM_001235	B3KVJ3|P29043|Q5XPB4|Q6NSJ6|Q8IY96|Q9NP88	Missense_Mutation	SNP	ENST00000524558.1	hg19	CCDS8239.1	.	.	.	.	.	.	.	.	.	.	T	30	5.057440	0.93846	.	.	ENSG00000149257	ENST00000533603;ENST00000358171;ENST00000526397;ENST00000421448;ENST00000530284;ENST00000532356;ENST00000524558;ENST00000525611;ENST00000525876	D;D;D;D;D;D;D;D	0.84800	-1.9;-1.9;-1.9;-1.9;-1.9;-1.9;-1.9;-1.9	5.71	5.71	0.89125	Serpin domain (3);	0.111513	0.64402	D	0.000006	D	0.90410	0.6998	M	0.69823	2.125	0.80722	D	1	D;D	0.65815	0.989;0.995	P;D	0.63283	0.834;0.913	D	0.90193	0.4251	10	0.44086	T	0.13	.	13.9316	0.63998	0.0:0.0:0.0:1.0	.	229;229	E9PPV6;P50454	.;SERPH_HUMAN	P	229;229;229;208;229;229;229;229;12	ENSP00000434657:S229P;ENSP00000350894:S229P;ENSP00000434964:S229P;ENSP00000436305:S229P;ENSP00000436040:S229P;ENSP00000434412:S229P;ENSP00000435452:S229P;ENSP00000433532:S12P	ENSP00000350894:S229P	S	+	1	0	SERPINH1	74957486	1.000000	0.71417	0.989000	0.46669	0.969000	0.65631	6.130000	0.71663	2.169000	0.68431	0.533000	0.62120	TCC	.	.		0.557	SERPINH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383610.1	NM_004353	
MYO7A	4647	hgsc.bcm.edu	37	11	76922240	76922240	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr11:76922240A>G	ENST00000409709.3	+	45	6367	c.6095A>G	c.(6094-6096)gAg>gGg	p.E2032G	MYO7A_ENST00000605744.1_3'UTR|MYO7A_ENST00000409619.2_Missense_Mutation_p.E1983G|MYO7A_ENST00000458637.2_Missense_Mutation_p.E1994G	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	2032	FERM 2. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TGCACGCGGGAGGAGGTGCTG	0.622																																					p.E2032G		Atlas-SNP	.											.	MYO7A	164	.	0			c.A6095G						.						25.0	30.0	28.0					11																	76922240		2111	4211	6322	SO:0001583	missense	4647	exon45			CGCGGGAGGAGGT	U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"""A-kinase anchor proteins"", ""Myosins / Myosin superfamily : Class VII"""	7606	protein-coding gene	gene with protein product		276903	"""myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"""	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.6095A>G	chr11.hg19:g.76922240A>G	ENSP00000386331:p.Glu2032Gly	96.0	0.0		99.0	6.0	NM_000260	B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Missense_Mutation	SNP	ENST00000409709.3	hg19	CCDS53683.1	.	.	.	.	.	.	.	.	.	.	A	17.98	3.521904	0.64747	.	.	ENSG00000137474	ENST00000409709;ENST00000458637;ENST00000409619;ENST00000545136;ENST00000358342;ENST00000343356;ENST00000341717;ENST00000458169;ENST00000544424	D;D;D;D	0.83075	-1.68;-1.68;-1.68;-1.68	4.63	4.63	0.57726	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.049395	0.85682	D	0.000000	D	0.89712	0.6794	M	0.69523	2.12	0.80722	D	1	D;B	0.76494	0.999;0.201	D;B	0.72625	0.978;0.14	D	0.91023	0.4858	10	0.87932	D	0	.	14.2037	0.65721	1.0:0.0:0.0:0.0	.	1994;2032	F8VUN5;Q13402	.;MYO7A_HUMAN	G	2032;1994;1983;1205;2031;2001;1908;1174;647	ENSP00000386331:E2032G;ENSP00000392185:E1994G;ENSP00000386635:E1983G;ENSP00000417017:E1174G	ENSP00000345075:E1908G	E	+	2	0	MYO7A	76599888	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.687000	0.91255	1.957000	0.56846	0.454000	0.30748	GAG	.	.		0.622	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1	NM_000260	
ALG8	79053	hgsc.bcm.edu	37	11	77832116	77832116	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr11:77832116A>G	ENST00000299626.5	-	4	544	c.473T>C	c.(472-474)gTg>gCg	p.V158A	ALG8_ENST00000532552.2_Intron|ALG8_ENST00000376156.3_Missense_Mutation_p.V158A	NM_024079.4	NP_076984.2	Q9BVK2	ALG8_HUMAN	ALG8, alpha-1,3-glucosyltransferase	158					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alpha-1,3-mannosyltransferase activity (GO:0000033)			NS(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	30	all_cancers(14;3.62e-19)|all_epithelial(13;1.27e-21)|Breast(9;8.51e-17)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;9.66e-25)			GATACGGTCCACAATTAATAA	0.318																																					p.V158A		Atlas-SNP	.											.	ALG8	54	.	0			c.T473C						.						160.0	152.0	155.0					11																	77832116		2200	4292	6492	SO:0001583	missense	79053	exon4			CGGTCCACAATTA	AJ224875	CCDS8258.1, CCDS41692.1	11q14.1	2013-03-01	2013-03-01		ENSG00000159063	ENSG00000159063	2.4.1.265		23161	protein-coding gene	gene with protein product	"""dolichyl-P-Glc:Glc(1)Man(9)GlcNAc(2)-PP-dolichol alpha- 1->3-glucosyltransferase"""	608103	"""asparagine-linked glycosylation 8 homolog (yeast, alpha-1,3-glucosyltransferase)"", ""asparagine-linked glycosylation 8, alpha-1,3-glucosyltransferase homolog (S. cerevisiae)"""				Standard	XM_005274247		Approved	MGC2840	uc001oza.1	Q9BVK2	OTTHUMG00000166594	ENST00000299626.5:c.473T>C	chr11.hg19:g.77832116A>G	ENSP00000299626:p.Val158Ala	148.0	0.0		98.0	5.0	NM_024079	A6NDW6|O60860	Missense_Mutation	SNP	ENST00000299626.5	hg19	CCDS8258.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	25.8|25.8	4.679874|4.679874	0.88542|0.88542	.|.	.|.	ENSG00000159063|ENSG00000159063	ENST00000299626;ENST00000376156;ENST00000525755;ENST00000530454;ENST00000525870;ENST00000527099|ENST00000532306;ENST00000529139	D;D;D;D;D;D|.	0.85955|.	-2.05;-2.05;-2.05;-2.05;-2.05;-2.05|.	5.81|5.81	5.81|5.81	0.92471|0.92471	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.84938|0.84938	0.5583|0.5583	M|M	0.91872|0.91872	3.25|3.25	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.85130|.	0.997;0.997|.	D|D	0.88331|0.88331	0.2968|0.2968	10|5	0.72032|.	D|.	0.01|.	-12.6418|-12.6418	16.1708|16.1708	0.81812|0.81812	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	158;158|.	Q9BVK2;A6NDW6|.	ALG8_HUMAN;.|.	A|R	158;158;107;159;70;70|32;3	ENSP00000299626:V158A;ENSP00000365326:V158A;ENSP00000435467:V107A;ENSP00000434660:V159A;ENSP00000435417:V70A;ENSP00000436064:V70A|.	ENSP00000299626:V158A|.	V|W	-|-	2|1	0|0	ALG8|ALG8	77509764|77509764	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.971000|0.971000	0.66376|0.66376	8.047000|8.047000	0.89440|0.89440	2.225000|2.225000	0.72522|0.72522	0.533000|0.533000	0.62120|0.62120	GTG|TGG	.	.		0.318	ALG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390637.1	NM_024079	
CCDC90B	60492	hgsc.bcm.edu	37	11	82985021	82985021	+	Silent	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr11:82985021T>C	ENST00000529689.1	-	5	875	c.441A>G	c.(439-441)gaA>gaG	p.E147E	CCDC90B_ENST00000529611.1_Silent_p.E46E|CCDC90B_ENST00000525503.1_Silent_p.E46E|CCDC90B_ENST00000455220.2_Silent_p.E138E|CCDC90B_ENST00000529073.1_Silent_p.E147E			Q9GZT6	CC90B_HUMAN	coiled-coil domain containing 90B	147						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10		Acute lymphoblastic leukemia(157;0.103)				CTTGGTCTAATTCAATTTTCA	0.264																																					p.E147E		Atlas-SNP	.											.	CCDC90B	20	.	0			c.A441G						.						78.0	78.0	78.0					11																	82985021		2201	4292	6493	SO:0001819	synonymous_variant	60492	exon5			GTCTAATTCAATT	BC048795	CCDS8266.1, CCDS66190.1, CCDS66191.1	11q14.1	2006-10-23			ENSG00000137500	ENSG00000137500			28108	protein-coding gene	gene with protein product						11230166	Standard	XM_005274154		Approved	MDS025, MDS011	uc001pae.3	Q9GZT6	OTTHUMG00000167078	ENST00000529689.1:c.441A>G	chr11.hg19:g.82985021T>C		182.0	0.0		99.0	4.0	NM_021825	A8K8I4|B3KP87|B4E3L2|Q3B781|Q9GZU6	Silent	SNP	ENST00000529689.1	hg19	CCDS8266.1																																																																																			.	.		0.264	CCDC90B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392940.2	NM_021825	
MRE11A	4361	hgsc.bcm.edu	37	11	94180593	94180593	+	Silent	SNP	C	C	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr11:94180593C>T	ENST00000323929.3	-	15	1797	c.1575G>A	c.(1573-1575)agG>agA	p.R525R	MRE11A_ENST00000393241.4_Silent_p.R525R|MRE11A_ENST00000407439.3_Silent_p.R528R|MRE11A_ENST00000323977.3_Silent_p.R525R	NM_005591.3	NP_005582.1	P49959	MRE11_HUMAN	MRE11 meiotic recombination 11 homolog A (S. cerevisiae)	525					base-excision repair (GO:0006284)|cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|double-strand break repair via nonhomologous end joining (GO:0006303)|innate immune response (GO:0045087)|intra-S DNA damage checkpoint (GO:0031573)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of DNA endoreduplication (GO:0032876)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair (GO:0006289)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of type I interferon production (GO:0032481)|reciprocal meiotic recombination (GO:0007131)|regulation of mitotic recombination (GO:0000019)|sister chromatid cohesion (GO:0007062)|synapsis (GO:0007129)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromatin (GO:0000785)|cytosol (GO:0005829)|Mre11 complex (GO:0030870)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	3'-5' exonuclease activity (GO:0008408)|double-stranded DNA binding (GO:0003690)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|manganese ion binding (GO:0030145)|nuclease activity (GO:0004518)|protein C-terminus binding (GO:0008022)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	29		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)				GTGCTCTGGCCCTGGTCATAG	0.418								Homologous recombination	Ataxia-Telangiectasia-Like Disorder																												p.R525R		Atlas-SNP	.											MRE11A_ENST00000323929,right_upper_lobe,carcinoma,0,2	MRE11A	145	.	0			c.G1575A						.						75.0	69.0	71.0					11																	94180593		2201	4298	6499	SO:0001819	synonymous_variant	4361	exon15	Familial Cancer Database	ATLD	TCTGGCCCTGGTC	BC063458	CCDS8298.1, CCDS8299.1	11q21	2014-09-17	2001-11-28		ENSG00000020922	ENSG00000020922			7230	protein-coding gene	gene with protein product	"""AT-like disease"""	600814	"""meiotic recombination (S. cerevisiae) 11 homolog A"""	MRE11		8530104	Standard	XM_005274007		Approved	ATLD	uc001peu.2	P49959	OTTHUMG00000167780	ENST00000323929.3:c.1575G>A	chr11.hg19:g.94180593C>T		96.0	0.0		51.0	3.0	NM_005591	O43475	Silent	SNP	ENST00000323929.3	hg19	CCDS8299.1																																																																																			.	.		0.418	MRE11A-001	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396237.3	NM_005591	
FAM76B	143684	hgsc.bcm.edu	37	11	95516268	95516268	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr11:95516268T>C	ENST00000358780.5	-	5	836	c.524A>G	c.(523-525)cAt>cGt	p.H175R	FAM76B_ENST00000536839.1_Missense_Mutation_p.H175R	NM_144664.4	NP_653265.3	Q5HYJ3	FA76B_HUMAN	family with sequence similarity 76, member B	175	His-rich.|Poly-His.					nuclear membrane (GO:0031965)|nucleus (GO:0005634)				breast(1)|kidney(1)|lung(1)	3		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				atggtgatgatggtggtgatg	0.378																																					p.H175R		Atlas-SNP	.											.	FAM76B	10	.	0			c.A524G						.						120.0	116.0	117.0					11																	95516268		1984	4162	6146	SO:0001583	missense	143684	exon5			TGATGATGGTGGT		CCDS41700.1	11q21	2008-02-05			ENSG00000077458	ENSG00000077458			28492	protein-coding gene	gene with protein product						12477932	Standard	NM_144664		Approved	MGC33371	uc001pfn.2	Q5HYJ3	OTTHUMG00000167739	ENST00000358780.5:c.524A>G	chr11.hg19:g.95516268T>C	ENSP00000351631:p.His175Arg	443.0	1.0		315.0	80.0	NM_144664	Q6PIU3|Q8TC53	Missense_Mutation	SNP	ENST00000358780.5	hg19	CCDS41700.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.31|14.31	2.498398|2.498398	0.44455|0.44455	.|.	.|.	ENSG00000077458|ENSG00000077458	ENST00000358780;ENST00000536839|ENST00000542135;ENST00000540054	.|.	.|.	.|.	5.6|5.6	5.6|5.6	0.85130|0.85130	.|.	0.149349|.	0.64402|.	D|.	0.000011|.	T|T	0.44850|0.44850	0.1313|0.1313	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	B|.	0.33073|.	0.396|.	B|.	0.34931|.	0.192|.	T|T	0.55515|0.55515	-0.8129|-0.8129	9|6	0.13470|0.87932	T|D	0.59|0	-16.1145|-16.1145	16.0786|16.0786	0.80985|0.80985	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	175|.	Q5HYJ3|.	FA76B_HUMAN|.	R|V	175|79	.|.	ENSP00000351631:H175R|ENSP00000442652:I79V	H|I	-|-	2|1	0|0	FAM76B|FAM76B	95155916|95155916	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.896000|0.896000	0.52359|0.52359	7.356000|7.356000	0.79445|0.79445	2.254000|2.254000	0.74563|0.74563	0.460000|0.460000	0.39030|0.39030	CAT|ATC	.	.		0.378	FAM76B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395969.1	NM_144664	
YAP1	10413	hgsc.bcm.edu	37	11	101984899	101984899	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr11:101984899G>T	ENST00000282441.5	+	2	734	c.346G>T	c.(346-348)Gga>Tga	p.G116*	YAP1_ENST00000531439.1_Nonsense_Mutation_p.G116*|YAP1_ENST00000524575.1_5'UTR|YAP1_ENST00000526343.1_Nonsense_Mutation_p.G116*|YAP1_ENST00000345877.2_Nonsense_Mutation_p.G116*|YAP1_ENST00000537274.1_Nonsense_Mutation_p.G116*	NM_001130145.2|NM_001282101.1	NP_001123617.1|NP_001269030.1	P46937	YAP1_HUMAN	Yes-associated protein 1	116					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|contact inhibition (GO:0060242)|embryonic heart tube morphogenesis (GO:0003143)|gene expression (GO:0010467)|hippo signaling (GO:0035329)|keratinocyte differentiation (GO:0030216)|lateral mesoderm development (GO:0048368)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|notochord development (GO:0030903)|paraxial mesoderm development (GO:0048339)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|positive regulation of organ growth (GO:0046622)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of keratinocyte proliferation (GO:0010837)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of stem cell proliferation (GO:0072091)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)	4	all_cancers(8;0.000575)|all_epithelial(12;0.00564)	Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.00936)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0189)		AGGCACTGCAGGAGCCCTGAC	0.478																																					p.G116X	Colon(50;247 1103 7861 28956)	Atlas-SNP	.											.	YAP1	45	.	0			c.G346T						.						48.0	48.0	48.0					11																	101984899		2203	4299	6502	SO:0001587	stop_gained	10413	exon2			ACTGCAGGAGCCC		CCDS8314.1, CCDS44716.1, CCDS8314.2, CCDS53699.1, CCDS53700.1, CCDS60944.1, CCDS73373.1, CCDS73374.1	11q13	2010-03-19	2010-03-19		ENSG00000137693	ENSG00000137693			16262	protein-coding gene	gene with protein product		606608	"""Yes-associated protein 1, 65kDa"""			7782338	Standard	NM_001130145		Approved	YAP65	uc001pgt.3	P46937	OTTHUMG00000167322	ENST00000282441.5:c.346G>T	chr11.hg19:g.101984899G>T	ENSP00000282441:p.Gly116*	132.0	0.0		64.0	4.0	NM_001130145	B4DTY1|B7ZA01|E3WEB5|E3WEB6|E9PRV2|F5H202|K0KQ18|K0KYZ8|K0L195|K0L1G3|Q7Z574|Q8IUY9	Nonsense_Mutation	SNP	ENST00000282441.5	hg19	CCDS44716.1	.	.	.	.	.	.	.	.	.	.	G	41	9.065605	0.99053	.	.	ENSG00000137693	ENST00000526343;ENST00000282441;ENST00000537274;ENST00000345877;ENST00000445250;ENST00000531439	.	.	.	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	.	19.4808	0.95008	0.0:0.0:1.0:0.0	.	.	.	.	X	116;116;116;116;31;116	.	ENSP00000282441:G116X	G	+	1	0	YAP1	101490109	1.000000	0.71417	0.985000	0.45067	0.948000	0.59901	7.564000	0.82326	2.611000	0.88343	0.563000	0.77884	GGA	.	.		0.478	YAP1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000394151.1	NM_006106	
EXPH5	23086	hgsc.bcm.edu	37	11	108409913	108409913	+	Splice_Site	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr11:108409913T>C	ENST00000265843.4	-	3	391	c.281A>G	c.(280-282)gAt>gGt	p.D94G	EXPH5_ENST00000428840.1_Splice_Site_p.D18G|EXPH5_ENST00000525344.1_Splice_Site_p.D87G|EXPH5_ENST00000524840.1_5'Flank|EXPH5_ENST00000443411.1_5'Flank	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	94					intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		TTCTATCGGATCTAGAAAAAA	0.338																																					p.D94G		Atlas-SNP	.											.	EXPH5	193	.	0			c.A281G						.						59.0	67.0	64.0					11																	108409913		2201	4298	6499	SO:0001630	splice_region_variant	23086	exon3			ATCGGATCTAGAA		CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"""synaptotagmin-like homologue lacking C2 domains b"""	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.281-1A>G	chr11.hg19:g.108409913T>C		144.0	0.0		91.0	4.0	NM_015065	Q2KHM1|Q9Y4D6	Missense_Mutation	SNP	ENST00000265843.4	hg19	CCDS8341.1	.	.	.	.	.	.	.	.	.	.	T	17.12	3.307583	0.60305	.	.	ENSG00000110723	ENST00000265843;ENST00000428840;ENST00000525344;ENST00000526312;ENST00000531386	T;T;T;T;T	0.55052	4.03;3.49;4.04;3.36;0.54	4.97	3.83	0.44106	.	0.000000	0.53938	D	0.000055	T	0.66684	0.2814	M	0.69823	2.125	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	T	0.65496	-0.6154	10	0.54805	T	0.06	.	7.56	0.27845	0.0:0.0987:0.0:0.9013	.	94	Q8NEV8	EXPH5_HUMAN	G	94;18;87;18;18	ENSP00000265843:D94G;ENSP00000391966:D18G;ENSP00000432546:D87G;ENSP00000432683:D18G;ENSP00000433909:D18G	ENSP00000265843:D94G	D	-	2	0	EXPH5	107915123	0.995000	0.38212	0.915000	0.36163	0.841000	0.47740	1.208000	0.32345	0.739000	0.32628	0.455000	0.32223	GAT	.	.		0.338	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1	NM_015065	Missense_Mutation
ANKK1	255239	hgsc.bcm.edu	37	11	113267990	113267990	+	Missense_Mutation	SNP	C	C	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr11:113267990C>T	ENST00000303941.3	+	6	977	c.883C>T	c.(883-885)Cgt>Tgt	p.R295C		NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN	ankyrin repeat and kinase domain containing 1	295							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.R295S(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)		GCTGCAGAGTCGTGTGGCAGT	0.602																																					p.R295C		Atlas-SNP	.											ANKK1,NS,carcinoma,0,1	ANKK1	83	.	1	Substitution - Missense(1)	lung(1)	c.C883T						.						62.0	68.0	66.0					11																	113267990		2158	4246	6404	SO:0001583	missense	255239	exon6			CAGAGTCGTGTGG	AJ541797	CCDS44734.1	11q23.2	2013-01-10			ENSG00000170209	ENSG00000170209		"""Ankyrin repeat domain containing"""	21027	protein-coding gene	gene with protein product		608774				15146457	Standard	NM_178510		Approved	X-kinase	uc001pny.3	Q8NFD2	OTTHUMG00000167715	ENST00000303941.3:c.883C>T	chr11.hg19:g.113267990C>T	ENSP00000306678:p.Arg295Cys	82.0	0.0		55.0	3.0	NM_178510		Missense_Mutation	SNP	ENST00000303941.3	hg19	CCDS44734.1	.	.	.	.	.	.	.	.	.	.	C	11.26	1.587316	0.28268	.	.	ENSG00000170209	ENST00000303941	T	0.75260	-0.92	4.8	-0.784	0.10954	Protein kinase-like domain (1);	0.868455	0.09547	U	0.787433	T	0.48429	0.1499	N	0.08118	0	0.09310	N	1	P	0.34934	0.476	B	0.30646	0.118	T	0.36065	-0.9763	10	0.51188	T	0.08	-0.3698	5.156	0.15034	0.1416:0.3664:0.413:0.0789	.	295	Q8NFD2	ANKK1_HUMAN	C	295	ENSP00000306678:R295C	ENSP00000306678:R295C	R	+	1	0	ANKK1	112773200	0.000000	0.05858	0.000000	0.03702	0.092000	0.18411	-0.831000	0.04405	-0.315000	0.08703	0.561000	0.74099	CGT	.	.		0.602	ANKK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395830.1	NM_178510	
DDX6	1656	hgsc.bcm.edu	37	11	118626140	118626140	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr11:118626140T>C	ENST00000526070.2	-	12	1607	c.1247A>G	c.(1246-1248)gAg>gGg	p.E416G	DDX6_ENST00000534980.1_Missense_Mutation_p.E416G|DDX6_ENST00000264018.4_Missense_Mutation_p.E416G	NM_001257191.1	NP_001244120.1	P26196	DDX6_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 6	416	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cytoplasmic mRNA processing body assembly (GO:0033962)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	13	all_hematologic(175;0.0839)	Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103)		OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377)		GAGATAGGTCTCTGCCAGCTT	0.338			T	IGH@	B-NHL																																p.E416G		Atlas-SNP	.		Dom	yes		11	11q23.3	1656	DEAD (Asp-Glu-Ala-Asp) box polypeptide 6		L	.	DDX6	64	.	0			c.A1247G						.						90.0	86.0	87.0					11																	118626140		1821	4082	5903	SO:0001583	missense	1656	exon12			TAGGTCTCTGCCA	D17532	CCDS44751.1	11q23.3	2012-02-23	2012-02-23		ENSG00000110367	ENSG00000110367		"""DEAD-boxes"""	2747	protein-coding gene	gene with protein product		600326	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 6 (RNA helicase, 54kD)"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 6"""	HLR2		1579499, 11839790	Standard	NM_004397		Approved	RCK	uc001pub.2	P26196	OTTHUMG00000166411	ENST00000526070.2:c.1247A>G	chr11.hg19:g.118626140T>C	ENSP00000433704:p.Glu416Gly	142.0	0.0		86.0	5.0	NM_004397	Q5D048	Missense_Mutation	SNP	ENST00000526070.2	hg19	CCDS44751.1	.	.	.	.	.	.	.	.	.	.	T	28.4	4.915438	0.92178	.	.	ENSG00000110367	ENST00000264018;ENST00000534980;ENST00000526070	T;T;T	0.76448	-1.02;-1.02;-1.02	5.46	5.46	0.80206	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.89072	0.6611	M	0.84433	2.695	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90845	0.4726	10	0.87932	D	0	.	15.5001	0.75691	0.0:0.0:0.0:1.0	.	416	P26196	DDX6_HUMAN	G	416	ENSP00000264018:E416G;ENSP00000442266:E416G;ENSP00000433704:E416G	ENSP00000264018:E416G	E	-	2	0	DDX6	118131350	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.950000	0.87804	2.199000	0.70637	0.528000	0.53228	GAG	.	.		0.338	DDX6-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000389647.2	NM_004397	
HYOU1	10525	hgsc.bcm.edu	37	11	118917336	118917336	+	Missense_Mutation	SNP	C	C	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr11:118917336C>A	ENST00000404233.3	-	23	2898	c.2774G>T	c.(2773-2775)cGg>cTg	p.R925L	HYOU1_ENST00000529972.1_Missense_Mutation_p.R863L|RP11-110I1.6_ENST00000531886.1_RNA|HYOU1_ENST00000525859.1_Missense_Mutation_p.R863L	NM_001130991.1|NM_006389.3	NP_001124463.1|NP_006380.1	Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1	925					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|response to ischemia (GO:0002931)|response to stress (GO:0006950)	endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)	ATP binding (GO:0005524)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2)	33	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)		TGGCTCTGCCCGGGTCCCATT	0.592																																					p.R925L		Atlas-SNP	.											.	HYOU1	88	.	0			c.G2774T						.						116.0	117.0	117.0					11																	118917336		2200	4295	6495	SO:0001583	missense	10525	exon23			TCTGCCCGGGTCC	U65785	CCDS8408.1	11q23.1-q23.3	2011-09-02			ENSG00000149428	ENSG00000149428		"""Heat shock proteins / HSP70"""	16931	protein-coding gene	gene with protein product	"""glucose-regulated protein 170"""	601746				9020069, 10037731	Standard	XM_005271390		Approved	ORP150, HSP12A, Grp170	uc001pux.3	Q9Y4L1	OTTHUMG00000166354	ENST00000404233.3:c.2774G>T	chr11.hg19:g.118917336C>A	ENSP00000384144:p.Arg925Leu	199.0	0.0		94.0	4.0	NM_006389	A8C1Z0|B7Z909|Q2I204|Q53H25	Missense_Mutation	SNP	ENST00000404233.3	hg19	CCDS8408.1	.	.	.	.	.	.	.	.	.	.	C	12.95	2.091328	0.36855	.	.	ENSG00000149428	ENST00000404233;ENST00000353883;ENST00000529972;ENST00000535579;ENST00000525859;ENST00000544701	T;T;T	0.01347	5.0;4.99;4.99	6.04	5.04	0.67666	.	0.178845	0.49305	D	0.000157	T	0.01029	0.0034	N	0.22421	0.69	0.80722	D	1	B;B;B;B	0.31318	0.223;0.319;0.223;0.223	B;B;B;B	0.25506	0.061;0.048;0.061;0.061	T	0.63651	-0.6589	10	0.32370	T	0.25	-25.0421	4.031	0.09710	0.0:0.693:0.0:0.307	.	916;907;925;925	B3KXH0;B7Z2N4;Q9Y4L1;A8C1Z0	.;.;HYOU1_HUMAN;.	L	925;916;863;774;863;906	ENSP00000384144:R925L;ENSP00000437313:R863L;ENSP00000433397:R863L	ENSP00000278752:R916L	R	-	2	0	HYOU1	118422546	0.837000	0.29446	0.993000	0.49108	0.123000	0.20343	1.064000	0.30579	2.873000	0.98535	0.561000	0.74099	CGG	.	.		0.592	HYOU1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389353.1	NM_006389	
FOXRED1	55572	hgsc.bcm.edu	37	11	126147548	126147548	+	Silent	SNP	C	C	T	rs150932515		TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr11:126147548C>T	ENST00000263578.5	+	11	1499	c.1425C>T	c.(1423-1425)taC>taT	p.Y475Y	FOXRED1_ENST00000534011.1_3'UTR|FOXRED1_ENST00000442061.2_Silent_p.Y305Y|FOXRED1_ENST00000532125.1_Silent_p.Y461Y	NM_017547.3	NP_060017.1	Q96CU9	FXRD1_HUMAN	FAD-dependent oxidoreductase domain containing 1	475						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	oxidoreductase activity (GO:0016491)			breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	15	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0729)		CCCGCTTTTACTTGGGAGAGA	0.552																																					p.Y475Y		Atlas-SNP	.											.	FOXRED1	38	.	0			c.C1425T						.	C		1,4401	2.1+/-5.4	0,1,2200	113.0	98.0	103.0		1425	4.6	1.0	11	dbSNP_134	103	0,8596		0,0,4298	no	coding-synonymous	FOXRED1	NM_017547.3		0,1,6498	TT,TC,CC		0.0,0.0227,0.0077		475/487	126147548	1,12997	2201	4298	6499	SO:0001819	synonymous_variant	55572	exon11			CTTTTACTTGGGA		CCDS8471.1	11q24.2	2006-02-03			ENSG00000110074	ENSG00000110074			26927	protein-coding gene	gene with protein product		613622				10497265	Standard	NM_017547		Approved	H17	uc001qdi.3	Q96CU9	OTTHUMG00000165827	ENST00000263578.5:c.1425C>T	chr11.hg19:g.126147548C>T		85.0	0.0		64.0	4.0	NM_017547	B3KN84|B4DHU2|Q71MG0|Q9BU39|Q9UKY9	Silent	SNP	ENST00000263578.5	hg19	CCDS8471.1																																																																																			.	C|1.000;T|0.000		0.552	FOXRED1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386434.1	NM_017547	
B4GALNT3	283358	hgsc.bcm.edu	37	12	662900	662900	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr12:662900A>G	ENST00000266383.5	+	14	1824	c.1811A>G	c.(1810-1812)gAg>gGg	p.E604G		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	604					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)			GGACAAGTggagggagaggaa	0.612																																					p.E604G		Atlas-SNP	.											.	B4GALNT3	64	.	0			c.A1811G						.						56.0	48.0	51.0					12																	662900		2202	4300	6502	SO:0001583	missense	283358	exon14			AAGTGGAGGGAGA	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	ENST00000266383.5:c.1811A>G	chr12.hg19:g.662900A>G	ENSP00000266383:p.Glu604Gly	147.0	0.0		121.0	5.0	NM_173593	Q6ZNC1|Q8N7T6	Missense_Mutation	SNP	ENST00000266383.5	hg19	CCDS8504.1	.	.	.	.	.	.	.	.	.	.	A	13.94	2.387261	0.42308	.	.	ENSG00000139044	ENST00000266383;ENST00000322843	T;T	0.35048	3.37;1.33	5.44	5.44	0.79542	.	0.506867	0.19338	N	0.116738	T	0.46521	0.1397	L	0.50333	1.59	0.50039	D	0.999844	D;D	0.57257	0.979;0.979	P;P	0.54270	0.747;0.549	T	0.25293	-1.0136	10	0.29301	T	0.29	-26.2211	15.1761	0.72913	1.0:0.0:0.0:0.0	.	507;604	E9PHD9;Q6L9W6	.;B4GN3_HUMAN	G	604;507	ENSP00000266383:E604G;ENSP00000322953:E507G	ENSP00000266383:E604G	E	+	2	0	B4GALNT3	533161	0.214000	0.23563	0.247000	0.24249	0.874000	0.50279	1.360000	0.34125	2.067000	0.61834	0.459000	0.35465	GAG	.	.		0.612	B4GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251406.2	NM_173593	
FBXL14	144699	hgsc.bcm.edu	37	12	1702156	1702156	+	Silent	SNP	G	G	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr12:1702156G>A	ENST00000339235.3	-	1	1175	c.1077C>T	c.(1075-1077)acC>acT	p.T359T	WNT5B_ENST00000537031.1_Intron|FBXL14_ENST00000543278.1_5'UTR	NM_152441.2	NP_689654.1	Q8N1E6	FXL14_HUMAN	F-box and leucine-rich repeat protein 14	359					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	8	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00115)			GGTCTATGCCGGTGAGTTGGC	0.627																																					p.T359T		Atlas-SNP	.											.	FBXL14	19	.	0			c.C1077T						.						133.0	114.0	120.0					12																	1702156		2203	4300	6503	SO:0001819	synonymous_variant	144699	exon1			TATGCCGGTGAGT	BC028132	CCDS8509.1	12p13.33	2011-06-09			ENSG00000171823	ENSG00000171823		"""F-boxes / Leucine-rich repeats"""	28624	protein-coding gene	gene with protein product		609081				12477932	Standard	NM_152441		Approved	MGC40195, Fbl14	uc001qjh.3	Q8N1E6	OTTHUMG00000090369	ENST00000339235.3:c.1077C>T	chr12.hg19:g.1702156G>A		135.0	0.0		68.0	4.0	NM_152441		Silent	SNP	ENST00000339235.3	hg19	CCDS8509.1																																																																																			.	.		0.627	FBXL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206741.1	NM_152441	
TEAD4	7004	hgsc.bcm.edu	37	12	3121364	3121364	+	Missense_Mutation	SNP	G	G	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr12:3121364G>T	ENST00000359864.2	+	5	510	c.320G>T	c.(319-321)cGt>cTt	p.R107L	TEAD4_ENST00000358409.2_Missense_Mutation_p.R107L|TEAD4_ENST00000397122.2_5'UTR	NM_003213.3	NP_003204	Q15561	TEAD4_HUMAN	TEA domain family member 4	107					gene expression (GO:0010467)|hippo signaling (GO:0035329)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	Ovarian(42;0.211)		OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)			GTGCTGGCTCGTCGCAAAGCT	0.592																																					p.R107L		Atlas-SNP	.											.	TEAD4	45	.	0			c.G320T						.						71.0	60.0	64.0					12																	3121364		2203	4300	6503	SO:0001583	missense	7004	exon5			TGGCTCGTCGCAA	X94438	CCDS31729.1, CCDS31730.1, CCDS41737.1	12p13.3-p13.2	2008-05-14				ENSG00000197905			11717	protein-coding gene	gene with protein product		601714		TCF13L1		9889009, 8921372	Standard	NM_003213		Approved	TEF-3, TEFR-1, EFTR-2, RTEF-1	uc010sej.2	Q15561		ENST00000359864.2:c.320G>T	chr12.hg19:g.3121364G>T	ENSP00000352926:p.Arg107Leu	101.0	0.0		82.0	4.0	NM_003213	H0Y308|Q6MZR9|Q8NEV5|Q92883|Q96BK2	Missense_Mutation	SNP	ENST00000359864.2	hg19	CCDS31729.1	.	.	.	.	.	.	.	.	.	.	G	15.99	2.996831	0.54147	.	.	ENSG00000197905	ENST00000358409;ENST00000359864;ENST00000543035	T;T	0.61742	0.28;0.08	4.98	3.13	0.36017	.	0.000000	0.85682	D	0.000000	T	0.80048	0.4552	H	0.94503	3.545	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.81822	-0.0756	10	0.87932	D	0	-8.8362	9.7204	0.40300	0.0776:0.1414:0.781:0.0	.	107	Q15561	TEAD4_HUMAN	L	107	ENSP00000351184:R107L;ENSP00000352926:R107L	ENSP00000351184:R107L	R	+	2	0	TEAD4	2991625	1.000000	0.71417	0.966000	0.40874	0.172000	0.22775	9.068000	0.93961	0.606000	0.29965	-0.175000	0.13238	CGT	.	.		0.592	TEAD4-001	KNOWN	non_ATG_start|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000398475.1	NM_003213	
KCNA1	3736	hgsc.bcm.edu	37	12	5020815	5020815	+	Missense_Mutation	SNP	G	G	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr12:5020815G>T	ENST00000382545.3	+	2	1378	c.271G>T	c.(271-273)Gcc>Tcc	p.A91S	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	91					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|dendrite (GO:0030425)|juxtaparanode region of axon (GO:0044224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|potassium ion transmembrane transporter activity (GO:0015079)			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Amitriptyline(DB00321)|Dalfampridine(DB06637)|Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Nifedipine(DB01115)|Sevoflurane(DB01236)	CAGCTTCGACGCCATCCTCTA	0.607																																					p.A91S		Atlas-SNP	.											KCNA1,lower_third,carcinoma,0,1	KCNA1	112	.	0			c.G271T						.						53.0	57.0	56.0					12																	5020815		2203	4300	6503	SO:0001583	missense	3736	exon2			TTCGACGCCATCC	L02750	CCDS8535.1	12p13	2012-07-05			ENSG00000111262	ENSG00000111262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6218	protein-coding gene	gene with protein product		176260		AEMK		1349297, 8821794, 16382104	Standard	NM_000217		Approved	Kv1.1, RBK1, HUK1, MBK1	uc001qnh.3	Q09470	OTTHUMG00000044398	ENST00000382545.3:c.271G>T	chr12.hg19:g.5020815G>T	ENSP00000371985:p.Ala91Ser	94.0	0.0		60.0	3.0	NM_000217	A6NM83|Q3MIQ9	Missense_Mutation	SNP	ENST00000382545.3	hg19	CCDS8535.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.267098	0.80469	.	.	ENSG00000111262	ENST00000382545;ENST00000228858	T	0.76839	-1.05	4.34	4.34	0.51931	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.85682	D	0.000000	D	0.83571	0.5283	L	0.45470	1.425	0.80722	D	1	P	0.46220	0.874	D	0.68353	0.957	T	0.80320	-0.1432	10	0.25751	T	0.34	.	16.3898	0.83531	0.0:0.0:1.0:0.0	.	91	Q09470	KCNA1_HUMAN	S	91	ENSP00000371985:A91S	ENSP00000228858:A91S	A	+	1	0	KCNA1	4891076	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.531000	0.98054	2.410000	0.81850	0.650000	0.86243	GCC	.	.		0.607	KCNA1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103343.2	NM_000217	
NOP2	4839	hgsc.bcm.edu	37	12	6669315	6669315	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr12:6669315A>G	ENST00000322166.5	-	15	1859	c.1738T>C	c.(1738-1740)Ttc>Ctc	p.F580L	NOP2_ENST00000545200.1_Missense_Mutation_p.F576L|NOP2_ENST00000382421.3_Missense_Mutation_p.F613L|NOP2_ENST00000541778.1_Missense_Mutation_p.F576L|NOP2_ENST00000399466.2_Missense_Mutation_p.F576L|NOP2_ENST00000542015.1_5'UTR|NOP2_ENST00000537442.1_Missense_Mutation_p.F580L	NM_001258308.1|NM_006170.3	NP_001245237.1|NP_006161.2	P46087	NOP2_HUMAN	NOP2 nucleolar protein	580					positive regulation of cell proliferation (GO:0008284)|rRNA processing (GO:0006364)	nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	19						TTGGCAATGAAGAACCCATCC	0.483																																					p.F613L		Atlas-SNP	.											.	NOP2	44	.	0			c.T1837C						.						89.0	90.0	90.0					12																	6669315		1867	4116	5983	SO:0001583	missense	4839	exon16			CAATGAAGAACCC		CCDS44811.1, CCDS58202.1, CCDS58203.1, CCDS58204.1	12p13	2012-12-10	2012-12-10	2008-10-13	ENSG00000111641	ENSG00000111641		"""NOP2/Sun domain containing"""	7867	protein-coding gene	gene with protein product	"""NOP2/Sun domain family, member 1"""	164031	"""nucleolar protein 1 (120kD)"", ""nucleolar protein 1, 120kDa"", ""nucleolar protein 2 homolog (yeast)"", ""NOP2 nucleolar protein homolog (yeast)"""	NOL1		8088812	Standard	NM_006170		Approved	NOP120, NSUN1, p120	uc021qtz.2	P46087	OTTHUMG00000169163	ENST00000322166.5:c.1738T>C	chr12.hg19:g.6669315A>G	ENSP00000313272:p.Phe580Leu	128.0	0.0		67.0	4.0	NM_001258309	A1A4Z3|B3KPD6|Q05BA7|Q0P5S5|Q3KQS4|Q58F30	Missense_Mutation	SNP	ENST00000322166.5	hg19	CCDS58203.1	.	.	.	.	.	.	.	.	.	.	A	31	5.094226	0.94149	.	.	ENSG00000111641	ENST00000537442;ENST00000382421;ENST00000545200;ENST00000399466;ENST00000322166;ENST00000541778	T;T;T;T;T;T	0.29397	1.57;1.57;1.57;1.57;1.57;1.57	4.95	4.95	0.65309	Nop2p (1);Bacterial Fmu (Sun)/eukaryotic nucleolar NOL1/Nop2p (1);	0.140304	0.64402	D	0.000003	T	0.71771	0.3379	H	0.98980	4.39	0.80722	D	1	D;D;D	0.89917	0.997;0.999;1.0	D;D;D	0.76071	0.976;0.973;0.987	D	0.84132	0.0412	10	0.72032	D	0.01	-22.8313	14.7847	0.69793	1.0:0.0:0.0:0.0	.	576;580;576	Q05BA7;P46087;P46087-2	.;NOP2_HUMAN;.	L	580;613;576;576;580;576	ENSP00000444437:F580L;ENSP00000371858:F613L;ENSP00000439422:F576L;ENSP00000382392:F576L;ENSP00000313272:F580L;ENSP00000443150:F576L	ENSP00000313272:F580L	F	-	1	0	NOP2	6539576	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	8.895000	0.92512	2.077000	0.62373	0.533000	0.62120	TTC	.	.		0.483	NOP2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402614.1	NM_006170	
GPR162	27239	hgsc.bcm.edu	37	12	6935396	6935396	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr12:6935396T>C	ENST00000311268.3	+	4	1880	c.1093T>C	c.(1093-1095)Tgc>Cgc	p.C365R	LEPREL2_ENST00000251761.8_RNA|GPR162_ENST00000382315.3_Missense_Mutation_p.C61R|LEPREL2_ENST00000396725.2_RNA|LEPREL2_ENST00000606935.1_RNA|GPR162_ENST00000428545.2_Missense_Mutation_p.C81R	NM_019858.1	NP_062832.1	Q16538	GP162_HUMAN	G protein-coupled receptor 162	365						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1)	18						GGGCCGAGTTTGCAAAGTTCG	0.602											OREG0021636	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.C365R		Atlas-SNP	.											.	GPR162	55	.	0			c.T1093C						.						70.0	71.0	71.0					12																	6935396		2203	4300	6503	SO:0001583	missense	27239	exon4			CGAGTTTGCAAAG	U47928, U47929, U47924, U47925	CCDS8563.1, CCDS44819.1	12p13	2012-08-21						"""GPCR / Class A : Orphans"""	16693	protein-coding gene	gene with protein product						15777626	Standard	NM_014449		Approved	A-2, GRCA	uc001qqw.1	Q16538		ENST00000311268.3:c.1093T>C	chr12.hg19:g.6935396T>C	ENSP00000311528:p.Cys365Arg	78.0	0.0	637	75.0	4.0	NM_019858	Q16664|Q59EH5|Q66K56	Missense_Mutation	SNP	ENST00000311268.3	hg19	CCDS8563.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.961616	0.74016	.	.	ENSG00000250510	ENST00000311268;ENST00000428545;ENST00000382315	T;T;T	0.47869	2.98;0.84;0.83	4.6	4.6	0.57074	.	.	.	.	.	T	0.60405	0.2266	L	0.44542	1.39	0.80722	D	1	D;D;D	0.76494	0.991;0.999;0.995	D;D;D	0.83275	0.991;0.996;0.979	T	0.62732	-0.6792	9	0.56958	D	0.05	.	14.1388	0.65306	0.0:0.0:0.0:1.0	.	149;81;365	Q13513;Q16538-2;Q16538	.;.;GP162_HUMAN	R	365;81;61	ENSP00000311528:C365R;ENSP00000399670:C81R;ENSP00000371752:C61R	ENSP00000311528:C365R	C	+	1	0	GPR162	6805657	1.000000	0.71417	0.999000	0.59377	0.930000	0.56654	5.308000	0.65768	1.930000	0.55929	0.402000	0.26972	TGC	.	.		0.602	GPR162-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399478.1	NM_019858	
PZP	5858	hgsc.bcm.edu	37	12	9315205	9315205	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr12:9315205T>C	ENST00000261336.2	-	22	2804	c.2776A>G	c.(2776-2778)Acc>Gcc	p.T926A	PZP_ENST00000539983.1_5'UTR|PZP_ENST00000381997.2_Missense_Mutation_p.T712A	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	926					female pregnancy (GO:0007565)|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)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						GAGGCACAGGTCATAGAACTG	0.393																																					p.T926A	Melanoma(125;1402 1695 4685 34487 38571)	Atlas-SNP	.											.	PZP	422	.	0			c.A2776G						.						154.0	136.0	142.0					12																	9315205		2203	4300	6503	SO:0001583	missense	5858	exon22			CACAGGTCATAGA	X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838			9750	protein-coding gene	gene with protein product		176420					Standard	NM_002864		Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.2776A>G	chr12.hg19:g.9315205T>C	ENSP00000261336:p.Thr926Ala	142.0	0.0		73.0	4.0	NM_002864	A6ND27|Q15273|Q2NKL2|Q7M4N7	Missense_Mutation	SNP	ENST00000261336.2	hg19	CCDS8600.1	.	.	.	.	.	.	.	.	.	.	T	10.98	1.504395	0.26949	.	.	ENSG00000126838	ENST00000261336;ENST00000381997	T;T	0.33438	2.35;1.41	2.83	-5.65	0.02459	.	2.832990	0.02197	N	0.061901	T	0.13030	0.0316	N	0.01874	-0.695	0.09310	N	1	B;B	0.29955	0.263;0.0	B;B	0.30316	0.114;0.001	T	0.33007	-0.9885	10	0.87932	D	0	.	8.5109	0.33217	0.0:0.4499:0.3485:0.2016	.	712;926	P20742-2;P20742	.;PZP_HUMAN	A	926;712	ENSP00000261336:T926A;ENSP00000371427:T712A	ENSP00000261336:T926A	T	-	1	0	PZP	9206472	0.000000	0.05858	0.000000	0.03702	0.635000	0.38103	-6.220000	0.00075	-1.935000	0.01049	0.383000	0.25322	ACC	.	.		0.393	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337624.1	NM_002864	
YBX3	8531	hgsc.bcm.edu	37	12	10862602	10862602	+	Missense_Mutation	SNP	G	G	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr12:10862602G>C	ENST00000228251.4	-	6	885	c.685C>G	c.(685-687)Cgc>Ggc	p.R229G	YBX3_ENST00000279550.7_Intron|YBX3_ENST00000546164.1_5'UTR	NM_003651.4	NP_003642.3	P16989	YBOX3_HUMAN	Y box binding protein 3	229					3'-UTR-mediated mRNA stabilization (GO:0070935)|cellular hyperosmotic response (GO:0071474)|cellular response to tumor necrosis factor (GO:0071356)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress (GO:1902219)|negative regulation of necroptotic process (GO:0060546)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cytoplasmic translation (GO:2000767)|positive regulation of organ growth (GO:0046622)|response to cold (GO:0009409)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|tight junction (GO:0005923)	double-stranded DNA binding (GO:0003690)|mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|Rho GTPase binding (GO:0017048)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)	p.R229C(1)									TACTGAGGGCGATACTGGGGG	0.622																																					p.R229G		Atlas-SNP	.											CSDA,NS,carcinoma,0,1	CSDA	35	.	1	Substitution - Missense(1)	lung(1)	c.C685G						.						31.0	34.0	33.0					12																	10862602		2203	4300	6503	SO:0001583	missense	8531	exon6			GAGGGCGATACTG	L29064	CCDS8630.1, CCDS44831.1	12p13.1	2013-03-13	2013-03-13	2013-03-13	ENSG00000060138	ENSG00000060138			2428	protein-coding gene	gene with protein product	"""cold-shock domain containing A1"""	603437	"""cold shock domain protein A"""	CSDA		2977358, 8710501	Standard	NM_003651		Approved	dbpA, ZONAB, CSDA1	uc001qyt.3	P16989	OTTHUMG00000168409	ENST00000228251.4:c.685C>G	chr12.hg19:g.10862602G>C	ENSP00000228251:p.Arg229Gly	100.0	0.0		60.0	3.0	NM_003651	B2RBW6|Q14121|Q969N6|Q96B76	Missense_Mutation	SNP	ENST00000228251.4	hg19	CCDS8630.1	.	.	.	.	.	.	.	.	.	.	G	18.23	3.578112	0.65878	.	.	ENSG00000060138	ENST00000228251	T	0.27104	1.69	4.31	3.42	0.39159	.	0.263447	0.27739	N	0.018047	T	0.21841	0.0526	M	0.62088	1.915	0.31070	N	0.713076	P	0.35033	0.481	B	0.29524	0.103	T	0.17501	-1.0367	10	0.37606	T	0.19	.	8.0823	0.30752	0.1088:0.0:0.8912:0.0	.	229	P16989	DBPA_HUMAN	G	229	ENSP00000228251:R229G	ENSP00000228251:R229G	R	-	1	0	CSDA	10753869	1.000000	0.71417	0.977000	0.42913	0.987000	0.75469	3.090000	0.50191	1.408000	0.46895	0.655000	0.94253	CGC	.	.		0.622	YBX3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399628.1	NM_003651	
KCNJ8	3764	hgsc.bcm.edu	37	12	21918966	21918966	+	Missense_Mutation	SNP	G	G	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr12:21918966G>T	ENST00000240662.2	-	3	1311	c.966C>A	c.(964-966)caC>caA	p.H322Q	RP11-59N23.1_ENST00000542489.1_RNA	NM_004982.3	NP_004973.1	Q15842	KCNJ8_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 8	322					defense response to virus (GO:0051607)|heart development (GO:0007507)|kidney development (GO:0001822)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to pH (GO:0009268)|synaptic transmission (GO:0007268)|vasodilation (GO:0042311)	ATP-sensitive potassium channel complex (GO:0008282)|mitochondrion (GO:0005739)|myofibril (GO:0030016)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATP-activated inward rectifier potassium channel activity (GO:0015272)|inward rectifier potassium channel activity (GO:0005242)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Gliquidone(DB01251)|Glisoxepide(DB01289)|Glyburide(DB01016)|Levosimendan(DB00922)|Phenformin(DB00914)|Thiamylal(DB01154)|Yohimbine(DB01392)	ACACAAAGCGGTGGCCCCATT	0.488																																					p.H322Q		Atlas-SNP	.											.	KCNJ8	59	.	0			c.C966A						.						96.0	86.0	89.0					12																	21918966		2203	4300	6503	SO:0001583	missense	3764	exon3			AAAGCGGTGGCCC	BC000544	CCDS8692.1	12p12.1	2011-07-05			ENSG00000121361	ENSG00000121361		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6269	protein-coding gene	gene with protein product		600935				8595887, 16382105	Standard	NM_004982		Approved	Kir6.1	uc001rff.4	Q15842	OTTHUMG00000169093	ENST00000240662.2:c.966C>A	chr12.hg19:g.21918966G>T	ENSP00000240662:p.His322Gln	121.0	0.0		98.0	4.0	NM_004982	O00657	Missense_Mutation	SNP	ENST00000240662.2	hg19	CCDS8692.1	.	.	.	.	.	.	.	.	.	.	G	11.93	1.785985	0.31593	.	.	ENSG00000121361	ENST00000240662;ENST00000539350	D	0.94497	-3.44	5.3	3.4	0.38934	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (2);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.000000	0.85682	D	0.000000	D	0.90307	0.6968	L	0.41632	1.29	0.50171	D	0.999851	B	0.25667	0.131	B	0.31390	0.129	D	0.85132	0.0975	10	0.48119	T	0.1	.	6.9663	0.24625	0.388:0.0:0.612:0.0	.	322	Q15842	IRK8_HUMAN	Q	322	ENSP00000240662:H322Q	ENSP00000240662:H322Q	H	-	3	2	KCNJ8	21810233	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.620000	0.46410	0.709000	0.31976	0.563000	0.77884	CAC	.	.		0.488	KCNJ8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402226.1	NM_004982	
TSPAN11	441631	hgsc.bcm.edu	37	12	31132605	31132605	+	Splice_Site	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr12:31132605T>C	ENST00000261177.9	+	5	515	c.456T>C	c.(454-456)gaT>gaC	p.D152D	TSPAN11_ENST00000535215.1_Splice_Site_p.D81D|TSPAN11_ENST00000546076.1_Splice_Site_p.D152D|TSPAN11_ENST00000544427.1_Splice_Site_p.D142D	NM_001080509.2	NP_001073978.1	A1L157	TSN11_HUMAN	tetraspanin 11	152						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)	11	all_lung(12;3.11e-10)|Lung NSC(12;5.24e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					TCCAGCAGGATGTAAGCCATG	0.557																																					p.D152D		Atlas-SNP	.											.	TSPAN11	30	.	0			c.T456C						.						70.0	63.0	65.0					12																	31132605		2203	4300	6503	SO:0001630	splice_region_variant	441631	exon5			GCAGGATGTAAGC		CCDS31765.1	12p11.21	2013-02-14				ENSG00000110900		"""Tetraspanins"""	30795	protein-coding gene	gene with protein product							Standard	NM_001080509		Approved		uc001rjp.3	A1L157		ENST00000261177.9:c.456+1T>C	chr12.hg19:g.31132605T>C		129.0	0.0		97.0	4.0	NM_001080509	A1L158|B2RUX6	Silent	SNP	ENST00000261177.9	hg19	CCDS31765.1																																																																																			.	.		0.557	TSPAN11-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399888.1	XM_497334	Silent
ADAMTS20	80070	hgsc.bcm.edu	37	12	43846211	43846211	+	Missense_Mutation	SNP	C	C	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr12:43846211C>G	ENST00000389420.3	-	14	1944	c.1945G>C	c.(1945-1947)Ggc>Cgc	p.G649R	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.G649R	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	649	Cys-rich.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.G649C(2)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TCCTTTGTGCCAACTGTAAAA	0.323																																					p.G649R		Atlas-SNP	.											ADAMTS20_ENST00000389420,NS,carcinoma,0,2	ADAMTS20	635	.	2	Substitution - Missense(2)	lung(2)	c.G1945C						.						69.0	69.0	69.0					12																	43846211		2203	4300	6503	SO:0001583	missense	80070	exon14			TTGTGCCAACTGT	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.1945G>C	chr12.hg19:g.43846211C>G	ENSP00000374071:p.Gly649Arg	72.0	0.0		44.0	3.0	NM_025003	A6NNC9|J3QT00	Missense_Mutation	SNP	ENST00000389420.3	hg19	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	C	2.200	-0.383324	0.04966	.	.	ENSG00000173157	ENST00000389420;ENST00000553158;ENST00000389417	T;D	0.85955	3.01;-2.05	4.97	2.07	0.26955	.	0.423664	0.19601	N	0.110384	T	0.70780	0.3263	N	0.16656	0.425	0.58432	D	0.999997	B	0.02656	0.0	B	0.01281	0.0	T	0.55224	-0.8174	10	0.17832	T	0.49	.	10.1208	0.42618	0.2549:0.4565:0.2886:0.0	.	649	P59510	ATS20_HUMAN	R	649	ENSP00000374071:G649R;ENSP00000448341:G649R	ENSP00000374068:G649R	G	-	1	0	ADAMTS20	42132478	0.997000	0.39634	0.169000	0.22859	0.015000	0.08874	0.421000	0.21280	0.059000	0.16252	-1.943000	0.00494	GGC	.	.		0.323	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003	
PFKM	5213	hgsc.bcm.edu	37	12	48526741	48526741	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr12:48526741A>G	ENST00000312352.7	+	5	367	c.328A>G	c.(328-330)Atc>Gtc	p.I110V	PFKM_ENST00000340802.6_Missense_Mutation_p.I181V|PFKM_ENST00000547587.1_Missense_Mutation_p.I110V|PFKM_ENST00000395233.2_Missense_Mutation_p.I110V|PFKM_ENST00000359794.5_Missense_Mutation_p.I110V|PFKM_ENST00000551804.1_Missense_Mutation_p.I110V	NM_001166687.1	NP_001160159.1	P08237	PFKAM_HUMAN	phosphofructokinase, muscle	110	N-terminal catalytic PFK domain 1.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 6-phosphate metabolic process (GO:0006002)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|muscle cell cellular homeostasis (GO:0046716)|positive regulation of insulin secretion (GO:0032024)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	6-phosphofructokinase complex (GO:0005945)|apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|sperm principal piece (GO:0097228)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|fructose binding (GO:0070061)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						GAAGCGTGGGATCACCAATCT	0.567																																					p.I181V		Atlas-SNP	.											.	PFKM	117	.	0			c.A541G						.						121.0	108.0	112.0					12																	48526741		2203	4300	6503	SO:0001583	missense	5213	exon7			CGTGGGATCACCA	M26066	CCDS8760.1, CCDS53786.1	12q13.11	2014-06-13					2.7.1.11		8877	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 122"""	610681	"""phosphofructokinase, polypeptide X"""	PFKX			Standard	NM_001166686		Approved	PFK-1, PPP1R122	uc001rrb.2	P08237		ENST00000312352.7:c.328A>G	chr12.hg19:g.48526741A>G	ENSP00000309438:p.Ile110Val	255.0	0.0		143.0	6.0	NM_001166686	J3KNX3|Q16814|Q16815|Q6ZTT1	Missense_Mutation	SNP	ENST00000312352.7	hg19	CCDS8760.1	.	.	.	.	.	.	.	.	.	.	A	24.5	4.543348	0.86022	.	.	ENSG00000152556	ENST00000550345;ENST00000549003;ENST00000549941;ENST00000340802;ENST00000359794;ENST00000551339;ENST00000395233;ENST00000548345;ENST00000551804;ENST00000549022;ENST00000547587;ENST00000312352	D;D;D;D;D;D;D;D;D;D;D;D	0.84944	-1.92;-1.92;-1.92;-1.92;-1.92;-1.92;-1.92;-1.92;-1.92;-1.92;-1.92;-1.92	4.67	4.67	0.58626	Phosphofructokinase domain (2);	0.000000	0.85682	D	0.000000	D	0.91405	0.7288	M	0.76574	2.34	0.58432	D	0.999999	D;D;D	0.76494	0.999;0.998;0.997	D;D;D	0.87578	0.998;0.998;0.966	D	0.91963	0.5580	10	0.59425	D	0.04	-22.5436	14.0609	0.64800	1.0:0.0:0.0:0.0	.	110;110;181	P08237-2;P08237;Q6ZTT1	.;K6PF_HUMAN;.	V	110;110;143;181;110;110;110;110;110;110;110;110	ENSP00000450369:I110V;ENSP00000449835:I110V;ENSP00000446829:I143V;ENSP00000345771:I181V;ENSP00000352842:I110V;ENSP00000448253:I110V;ENSP00000378656:I110V;ENSP00000449269:I110V;ENSP00000448177:I110V;ENSP00000446805:I110V;ENSP00000449426:I110V;ENSP00000309438:I110V	ENSP00000309438:I110V	I	+	1	0	PFKM	46813008	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.282000	0.78630	2.322000	0.78497	0.528000	0.53228	ATC	.	.		0.567	PFKM-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406490.1	NM_000289	
RHEBL1	121268	hgsc.bcm.edu	37	12	49459212	49459212	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr12:49459212T>C	ENST00000301068.6	-	7	622	c.383A>G	c.(382-384)gAg>gGg	p.E128G		NM_144593.1	NP_653194.1	Q8TAI7	REBL1_HUMAN	Ras homolog enriched in brain like 1	128					GTP catabolic process (GO:0006184)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|small GTPase mediated signal transduction (GO:0007264)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			breast(2)|large_intestine(2)|lung(5)	9						TGCCTGTACCTCTCTGGAAGC	0.483																																					p.E128G		Atlas-SNP	.											.	RHEBL1	12	.	0			c.A383G						.						105.0	95.0	98.0					12																	49459212		2203	4300	6503	SO:0001583	missense	121268	exon7			TGTACCTCTCTGG	AK098663	CCDS8778.1	12q13.12	2014-05-09				ENSG00000167550			21166	protein-coding gene	gene with protein product						12477932	Standard	NM_144593		Approved	MGC34869, FLJ25797	uc001rtc.1	Q8TAI7	OTTHUMG00000170407	ENST00000301068.6:c.383A>G	chr12.hg19:g.49459212T>C	ENSP00000301068:p.Glu128Gly	113.0	0.0		75.0	4.0	NM_144593	Q56VH8	Missense_Mutation	SNP	ENST00000301068.6	hg19	CCDS8778.1	.	.	.	.	.	.	.	.	.	.	T	17.42	3.385429	0.61956	.	.	ENSG00000167550	ENST00000301068	T	0.81078	-1.45	5.77	4.62	0.57501	Small GTP-binding protein domain (1);	0.055457	0.64402	D	0.000001	T	0.81654	0.4868	M	0.83312	2.635	0.44660	D	0.997645	P	0.46395	0.877	B	0.44224	0.444	T	0.82600	-0.0377	10	0.44086	T	0.13	.	9.826	0.40912	0.0:0.0808:0.0:0.9192	.	128	Q8TAI7	REBL1_HUMAN	G	128	ENSP00000301068:E128G	ENSP00000301068:E128G	E	-	2	0	RHEBL1	47745479	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.468000	0.35332	2.205000	0.71048	0.533000	0.62120	GAG	.	.		0.483	RHEBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408969.1	NM_144593	
PRPF40B	25766	hgsc.bcm.edu	37	12	50029645	50029645	+	Missense_Mutation	SNP	G	G	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr12:50029645G>A	ENST00000380281.1	+	14	1293	c.1229G>A	c.(1228-1230)cGg>cAg	p.R410Q	FMNL3_ENST00000550668.1_5'Flank|PRPF40B_ENST00000548825.2_Missense_Mutation_p.R432Q|PRPF40B_ENST00000261897.1_Missense_Mutation_p.R404Q			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	410	FF 3.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						AAGCAGCTCCGGCGCCGCAAT	0.597																																					p.R432Q		Atlas-SNP	.											PRPF40B,colon,carcinoma,0,2	PRPF40B	83	.	0			c.G1295A						.						72.0	62.0	65.0					12																	50029645		2203	4300	6503	SO:0001583	missense	25766	exon15			AGCTCCGGCGCCG	AF049525	CCDS31796.1, CCDS31796.2	12q13.12	2014-09-17	2006-04-04			ENSG00000110844			25031	protein-coding gene	gene with protein product	"""Huntingtin interacting protein C"""		"""PRP40 pre-mRNA processing factor 40 homolog B (yeast)"""			9700202	Standard	NM_001031698		Approved	HYPC	uc001rus.2	Q6NWY9		ENST00000380281.1:c.1229G>A	chr12.hg19:g.50029645G>A	ENSP00000369634:p.Arg410Gln	74.0	0.0		49.0	2.0	NM_001031698	O75401|Q6PI09|Q6ZWB3|Q8NCZ1|Q9H5G4|Q9NT95	Missense_Mutation	SNP	ENST00000380281.1	hg19		.	.	.	.	.	.	.	.	.	.	G	35	5.506481	0.96386	.	.	ENSG00000110844	ENST00000261897;ENST00000380281	T;T	0.32023	1.47;1.47	5.0	5.0	0.66597	FF domain (3);	0.000000	0.64402	D	0.000008	T	0.55114	0.1900	M	0.71581	2.175	0.58432	D	0.999998	D;D;D	0.89917	0.998;1.0;1.0	P;D;D	0.74348	0.881;0.977;0.983	T	0.52734	-0.8536	9	.	.	.	-21.7777	17.599	0.88021	0.0:0.0:1.0:0.0	.	410;404;410	Q6NWY9;Q6NWY9-2;Q6NWY9-3	PR40B_HUMAN;.;.	Q	404;410	ENSP00000261897:R404Q;ENSP00000369634:R410Q	.	R	+	2	0	PRPF40B	48315912	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.388000	0.97237	2.775000	0.95449	0.563000	0.77884	CGG	.	.		0.597	PRPF40B-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000404838.1	NM_012272	
FMNL3	91010	hgsc.bcm.edu	37	12	50040685	50040685	+	Silent	SNP	G	G	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr12:50040685G>T	ENST00000293590.5	-	25	3212	c.2979C>A	c.(2977-2979)atC>atA	p.I993I	FMNL3_ENST00000550488.1_Silent_p.I992I|FMNL3_ENST00000335154.5_Silent_p.I993I|FMNL3_ENST00000352151.5_Silent_p.I942I			Q8IVF7	FMNL3_HUMAN	formin-like 3	993	DAD.				actin cytoskeleton organization (GO:0030036)|cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)	GTPase activating protein binding (GO:0032794)			breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						TGATGTCCTCGATGGTACCAT	0.592																																					p.I993I		Atlas-SNP	.											.	FMNL3	137	.	0			c.C2979A						.						87.0	89.0	89.0					12																	50040685		2042	4187	6229	SO:0001819	synonymous_variant	91010	exon25			GTCCTCGATGGTA	AK128195	CCDS41780.1, CCDS44874.1	12q13.12	2006-04-10							23698	protein-coding gene	gene with protein product						12684686	Standard	NM_198900		Approved	DKFZp762B245, MGC45819, WBP3	uc001ruv.1	Q8IVF7	OTTHUMG00000169651	ENST00000293590.5:c.2979C>A	chr12.hg19:g.50040685G>T		252.0	0.0		150.0	6.0	NM_175736	B0JZA7|Q6ZRJ1	Silent	SNP	ENST00000293590.5	hg19																																																																																				.	.		0.592	FMNL3-201	KNOWN	basic	protein_coding	protein_coding		NM_175736	
ATG101	60673	hgsc.bcm.edu	37	12	52470974	52470974	+	Nonstop_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr12:52470974A>G	ENST00000336854.4	+	4	1135	c.657A>G	c.(655-657)tgA>tgG	p.*219W	OR7E47P_ENST00000546390.1_RNA|RP11-1100L3.7_ENST00000550301.1_RNA	NM_001098673.1|NM_021934.4	NP_001092143.1|NP_068753.2	Q9BSB4	ATGA1_HUMAN		0					autophagic vacuole assembly (GO:0000045)	pre-autophagosomal structure (GO:0000407)	identical protein binding (GO:0042802)|protein complex binding (GO:0032403)			endometrium(1)|lung(2)|ovary(1)	4				BRCA - Breast invasive adenocarcinoma(357;0.0978)		TTGCCCTCTGAGCGTCGCTGG	0.567																																					p.X219W		Atlas-SNP	.											.	C12orf44	14	.	0			c.A657G						.						57.0	57.0	57.0					12																	52470974		2203	4300	6503	SO:0001578	stop_lost	60673	exon4			CCTCTGAGCGTCG																												ENST00000336854.4:c.657A>G	chr12.hg19:g.52470974A>G	ENSP00000338990:p.*219Trpext*58	111.0	0.0		71.0	4.0	NM_001098673	Q9HAE2|Q9HBN1	Missense_Mutation	SNP	ENST00000336854.4	hg19	CCDS8820.1	.	.	.	.	.	.	.	.	.	.	A	8.489	0.861581	0.17178	.	.	ENSG00000123395	ENST00000336854;ENST00000550984	.	.	.	4.67	2.62	0.31277	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.2621	0.26209	0.3106:0.0:0.6894:0.0	.	.	.	.	W	219	.	.	X	+	3	0	C12orf44	50757241	1.000000	0.71417	0.907000	0.35723	0.280000	0.26924	5.925000	0.70062	1.139000	0.42245	-0.408000	0.06270	TGA	.	.		0.567	C12orf44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405063.1		
KRT85	3891	hgsc.bcm.edu	37	12	52758122	52758122	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr12:52758122T>C	ENST00000257901.3	-	3	733	c.658A>G	c.(658-660)Aca>Gca	p.T220A	KRT85_ENST00000544265.1_Intron	NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN	keratin 85	220	Coil 1B.|Rod.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TTCTCTGCTGTGGCTCTCAGG	0.572																																					p.T220A		Atlas-SNP	.											.	KRT85	78	.	0			c.A658G						.						95.0	93.0	94.0					12																	52758122		2203	4300	6503	SO:0001583	missense	3891	exon3			CTGCTGTGGCTCT	X99140	CCDS8824.1, CCDS73472.1	12q13.13	2013-06-20	2006-07-17	2006-07-17	ENSG00000135443	ENSG00000135443		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6462	protein-coding gene	gene with protein product	"""hard keratin type II"""	602767	"""keratin, hair, basic, 5"""	KRTHB5		9084137, 16831889	Standard	NM_002283		Approved	Hb-5	uc001sag.3	P78386	OTTHUMG00000169633	ENST00000257901.3:c.658A>G	chr12.hg19:g.52758122T>C	ENSP00000257901:p.Thr220Ala	193.0	0.0		98.0	4.0	NM_002283	Q9NSB1	Missense_Mutation	SNP	ENST00000257901.3	hg19	CCDS8824.1	.	.	.	.	.	.	.	.	.	.	T	12.78	2.040097	0.35989	.	.	ENSG00000135443	ENST00000257901	D	0.88354	-2.37	4.62	3.44	0.39384	Filament (1);	0.000000	0.64402	D	0.000015	T	0.79257	0.4415	L	0.38175	1.15	0.09310	N	1	B	0.28636	0.218	B	0.35278	0.199	T	0.64266	-0.6448	10	0.05436	T	0.98	.	4.2336	0.10615	0.1614:0.155:0.0:0.6836	.	220	P78386	KRT85_HUMAN	A	220	ENSP00000257901:T220A	ENSP00000257901:T220A	T	-	1	0	KRT85	51044389	0.000000	0.05858	0.991000	0.47740	0.982000	0.71751	0.253000	0.18296	1.953000	0.56701	0.459000	0.35465	ACA	.	.		0.572	KRT85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405184.1	NM_002283	
TENC1	23371	hgsc.bcm.edu	37	12	53455989	53455989	+	Silent	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr12:53455989A>G	ENST00000314250.6	+	23	3917	c.3627A>G	c.(3625-3627)aaA>aaG	p.K1209K	TENC1_ENST00000549700.1_Silent_p.K1144K|TENC1_ENST00000314276.3_Silent_p.K1219K|TENC1_ENST00000552570.1_Silent_p.K1209K|TENC1_ENST00000379902.3_Silent_p.K1085K|TENC1_ENST00000451358.1_Silent_p.K1199K|TENC1_ENST00000546602.1_Silent_p.K1112K	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase (tensin 2)	1209	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cellular homeostasis (GO:0019725)|collagen metabolic process (GO:0032963)|intracellular signal transduction (GO:0035556)|kidney development (GO:0001822)|multicellular organism growth (GO:0035264)|multicellular organismal homeostasis (GO:0048871)|negative regulation of cell proliferation (GO:0008285)|response to muscle activity (GO:0014850)	focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						CTGGGCCCAAAGGGGTGAAGA	0.592																																					p.K1219K		Atlas-SNP	.											.	TENC1	148	.	0			c.A3657G						.						52.0	56.0	55.0					12																	53455989		2203	4300	6503	SO:0001819	synonymous_variant	23371	exon23			GCCCAAAGGGGTG	AF518729	CCDS8842.1, CCDS8843.1, CCDS8844.1	12q13.13	2013-02-14	2004-03-05			ENSG00000111077		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"", ""SH2 domain containing"""	19737	protein-coding gene	gene with protein product	"""tensin 2"""	607717	"""tensin like C1 domain-containing phosphatase"""				Standard	NM_015319		Approved	KIAA1075, C1-TEN, TNS2	uc001sbp.3	Q63HR2	OTTHUMG00000169730	ENST00000314250.6:c.3627A>G	chr12.hg19:g.53455989A>G		103.0	0.0		66.0	5.0	NM_015319	A2VDF2|A2VDF3|A2VDI8|A5PKY4|Q2NL80|Q76MW6|Q7Z5T9|Q8NFF9|Q8NFG0|Q96P25|Q9NT29|Q9UPS7	Silent	SNP	ENST00000314250.6	hg19	CCDS8843.1																																																																																			.	.		0.592	TENC1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405779.1	NM_170754	
ZNF740	283337	hgsc.bcm.edu	37	12	53579803	53579803	+	Silent	SNP	C	C	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr12:53579803C>T	ENST00000416904.3	+	5	760	c.315C>T	c.(313-315)caC>caT	p.H105H		NM_001004304.3	NP_001004304.1	Q8NDX6	ZN740_HUMAN	zinc finger protein 740	105					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)	3						TTTGTGAACACTGCTTTGGAG	0.423																																					p.H105H		Atlas-SNP	.											.	ZNF740	15	.	0			c.C315T						.						79.0	74.0	76.0					12																	53579803		1853	4100	5953	SO:0001819	synonymous_variant	283337	exon5			TGAACACTGCTTT	BC053557	CCDS44896.1	12q13.13	2013-01-08				ENSG00000139651		"""Zinc fingers, C2H2-type"""	27465	protein-coding gene	gene with protein product							Standard	NM_001004304		Approved	Zfp740	uc001scb.4	Q8NDX6		ENST00000416904.3:c.315C>T	chr12.hg19:g.53579803C>T		173.0	0.0		109.0	5.0	NM_001004304	A8K9M9	Silent	SNP	ENST00000416904.3	hg19	CCDS44896.1																																																																																			.	.		0.423	ZNF740-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406890.2	NM_001004304	
HOXC12	3228	hgsc.bcm.edu	37	12	54350171	54350171	+	Silent	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr12:54350171T>C	ENST00000243103.3	+	2	766	c.670T>C	c.(670-672)Ttg>Ctg	p.L224L	AC012531.23_ENST00000603432.1_lincRNA	NM_173860.1	NP_776272.1	P31275	HXC12_HUMAN	homeobox C12	224					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	12						CTATTCGAAGTTGCAACTGGC	0.577																																					p.L224L		Atlas-SNP	.											.	HOXC12	19	.	0			c.T670C						.						98.0	102.0	101.0					12																	54350171		2203	4300	6503	SO:0001819	synonymous_variant	3228	exon2			TCGAAGTTGCAAC	AF328962	CCDS8866.1	12q13.13	2011-06-20	2005-12-22		ENSG00000123407	ENSG00000123407		"""Homeoboxes / ANTP class : HOXL subclass"""	5124	protein-coding gene	gene with protein product		142975	"""homeo box C12"""	HOX3, HOX3F, HOC3F		1973146, 1358459	Standard	NM_173860		Approved		uc010soq.2	P31275	OTTHUMG00000160010	ENST00000243103.3:c.670T>C	chr12.hg19:g.54350171T>C		124.0	0.0		98.0	4.0	NM_173860	Q9BXJ6	Silent	SNP	ENST00000243103.3	hg19	CCDS8866.1																																																																																			.	.		0.577	HOXC12-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358868.2	NM_173860	
GPR84	53831	hgsc.bcm.edu	37	12	54757018	54757018	+	Silent	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr12:54757018T>C	ENST00000551809.1	-	1	1253	c.618A>G	c.(616-618)aaA>aaG	p.K206K	GPR84_ENST00000267015.3_Silent_p.K206K|RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA			Q9NQS5	GPR84_HUMAN	G protein-coupled receptor 84	206						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(2)|kidney(2)|large_intestine(6)|lung(5)|skin(1)|urinary_tract(1)	18						GTGCTGCTCGTTTGACCTGGC	0.567																																					p.K206K		Atlas-SNP	.											.	GPR84	38	.	0			c.A618G						.						170.0	146.0	154.0					12																	54757018		2203	4300	6503	SO:0001819	synonymous_variant	53831	exon2			TGCTCGTTTGACC	AF237762	CCDS8878.1	12q13.13	2012-08-20						"""GPCR / Class A : Fatty acid receptors"""	4535	protein-coding gene	gene with protein product		606383				11273702	Standard	NM_020370		Approved	EX33	uc001sfu.3	Q9NQS5		ENST00000551809.1:c.618A>G	chr12.hg19:g.54757018T>C		76.0	0.0		51.0	5.0	NM_020370	B6V9G7	Silent	SNP	ENST00000551809.1	hg19	CCDS8878.1																																																																																			.	.		0.567	GPR84-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406156.1		
ITGA5	3678	hgsc.bcm.edu	37	12	54797978	54797978	+	Missense_Mutation	SNP	A	A	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr12:54797978A>T	ENST00000293379.4	-	15	1777	c.1516T>A	c.(1516-1518)Ttc>Atc	p.F506I	RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)	506					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|memory (GO:0007613)|negative regulation of anoikis (GO:2000811)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|viral process (GO:0016032)|wound healing, spreading of epidermal cells (GO:0035313)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	metal ion binding (GO:0046872)|platelet-derived growth factor receptor binding (GO:0005161)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						TCTGGGTTGAACATGGCGGGG	0.602											OREG0021554	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.F506I		Atlas-SNP	.											.	ITGA5	99	.	0			c.T1516A						.						71.0	78.0	76.0					12																	54797978		2203	4300	6503	SO:0001583	missense	3678	exon15			GGTTGAACATGGC		CCDS8880.1	12q11-q13	2010-03-23				ENSG00000161638		"""CD molecules"", ""Integrins"""	6141	protein-coding gene	gene with protein product		135620		FNRA		2454952	Standard	NM_002205		Approved	CD49e	uc001sga.3	P08648	OTTHUMG00000169841	ENST00000293379.4:c.1516T>A	chr12.hg19:g.54797978A>T	ENSP00000293379:p.Phe506Ile	102.0	0.0	1003	98.0	4.0	NM_002205	Q96HA5	Missense_Mutation	SNP	ENST00000293379.4	hg19	CCDS8880.1	.	.	.	.	.	.	.	.	.	.	A	11.95	1.792335	0.31685	.	.	ENSG00000161638	ENST00000293379	T	0.27890	1.64	3.67	3.67	0.42095	Integrin alpha-2 (1);	0.251469	0.38663	N	0.001610	T	0.15046	0.0363	N	0.05487	-0.04	0.34386	D	0.693696	P	0.38827	0.649	B	0.37692	0.256	T	0.22452	-1.0216	10	0.21540	T	0.41	.	10.9973	0.47585	1.0:0.0:0.0:0.0	.	506	P08648	ITA5_HUMAN	I	506	ENSP00000293379:F506I	ENSP00000293379:F506I	F	-	1	0	ITGA5	53084245	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.993000	0.56987	1.926000	0.55796	0.374000	0.22700	TTC	.	.		0.602	ITGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406174.1		
DCD	117159	hgsc.bcm.edu	37	12	55042049	55042049	+	Silent	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr12:55042049T>C	ENST00000293371.6	-	1	228	c.39A>G	c.(37-39)gcA>gcG	p.A13A	DCD_ENST00000456047.2_Silent_p.A13A	NM_053283.2	NP_444513.1	P81605	DCD_HUMAN	dermcidin	13					defense response to bacterium (GO:0042742)|defense response to fungus (GO:0050832)|killing of cells of other organism (GO:0031640)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	peptidase activity (GO:0008233)|poly(A) RNA binding (GO:0044822)			large_intestine(2)|lung(2)|ovary(1)|skin(1)	6		Myeloproliferative disorder(1001;0.0255)				CCAGGGCTCCTGCCAGAGCTG	0.562																																					p.A13A		Atlas-SNP	.											.	DCD	20	.	0			c.A39G						.						108.0	91.0	97.0					12																	55042049		2203	4300	6503	SO:0001819	synonymous_variant	117159	exon1			GGCTCCTGCCAGA	AF144011	CCDS8884.1, CCDS73478.1	12q13.1	2008-08-04				ENSG00000161634			14669	protein-coding gene	gene with protein product	"""proteolysis inducing factor"", ""preproteolysin"", ""diffusible survival/evasion peptide"", ""survival promoting peptide"""	606634				11694882	Standard	XM_005268627		Approved	AIDD, PIF, DSEP, HCAP, DCD-1	uc001sgj.3	P81605	OTTHUMG00000169937	ENST00000293371.6:c.39A>G	chr12.hg19:g.55042049T>C		109.0	0.0		72.0	4.0	NM_053283	A5JHP2|A5JHP3|P58461|Q53YJ2	Silent	SNP	ENST00000293371.6	hg19	CCDS8884.1																																																																																			.	.		0.562	DCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406617.1	NM_053283	
NEUROD4	58158	hgsc.bcm.edu	37	12	55420695	55420695	+	Silent	SNP	C	C	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr12:55420695C>T	ENST00000242994.3	+	2	850	c.472C>T	c.(472-474)Ctg>Ttg	p.L158L		NM_021191.2	NP_067014.2	Q9HD90	NDF4_HUMAN	neuronal differentiation 4	158					amacrine cell differentiation (GO:0035881)|cell fate commitment (GO:0045165)|glial cell differentiation (GO:0010001)|neuroblast proliferation (GO:0007405)|neuron development (GO:0048666)|neuron migration (GO:0001764)|Notch signaling pathway (GO:0007219)|positive regulation of cell differentiation (GO:0045597)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						TGTGGAGATGCTGTGTAAAGG	0.522																																					p.L158L		Atlas-SNP	.											NEUROD4,caecum,carcinoma,0,1	NEUROD4	87	.	0			c.C472T						.						56.0	58.0	57.0					12																	55420695		2203	4300	6503	SO:0001819	synonymous_variant	58158	exon2			GAGATGCTGTGTA	AF203901	CCDS8886.1	12q13.13	2013-05-21	2012-02-22			ENSG00000123307		"""Basic helix-loop-helix proteins"""	13802	protein-coding gene	gene with protein product		611635	"""neurogenic differentiation 4"""				Standard	NM_021191		Approved	Atoh3, ATH-3, MATH-3, bHLHa4	uc001sgp.4	Q9HD90		ENST00000242994.3:c.472C>T	chr12.hg19:g.55420695C>T		62.0	0.0		48.0	2.0	NM_021191	B2RAC9	Silent	SNP	ENST00000242994.3	hg19	CCDS8886.1																																																																																			.	.		0.522	NEUROD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406104.1		
PMEL	6490	hgsc.bcm.edu	37	12	56351868	56351868	+	Splice_Site	SNP	C	C	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr12:56351868C>T	ENST00000548747.1	-	5	1132	c.470G>A	c.(469-471)gGc>gAc	p.G157D	PMEL_ENST00000449260.2_Splice_Site_p.G157D|PMEL_ENST00000536427.1_Splice_Site_p.G157D|PMEL_ENST00000539511.1_Splice_Site_p.G71D|PMEL_ENST00000548493.1_Splice_Site_p.G157D|PMEL_ENST00000552882.1_Splice_Site_p.G157D|PMEL_ENST00000548689.1_5'UTR|PMEL_ENST00000550447.1_Intron|PMEL_ENST00000550464.1_Splice_Site_p.G71D|PMEL_ENST00000360714.4_Splice_Site_p.G157D			P40967	PMEL_HUMAN	premelanosome protein	157					melanin biosynthetic process (GO:0042438)|melanosome organization (GO:0032438)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)|multivesicular body membrane (GO:0032585)|plasma membrane (GO:0005886)				NS(1)|breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CCAGTATTGGCCTGAAGTTTT	0.532																																					p.G157D		Atlas-SNP	.											.	PMEL	60	.	0			c.G470A						.						48.0	47.0	48.0					12																	56351868		2203	4300	6503	SO:0001630	splice_region_variant	6490	exon5			TATTGGCCTGAAG	AK092881	CCDS8897.1, CCDS55833.1, CCDS55834.1	12q13-q14	2010-12-17	2010-12-17	2010-12-17	ENSG00000185664	ENSG00000185664			10880	protein-coding gene	gene with protein product		155550	"""silver (mouse homolog) like"", ""silver homolog (mouse)"""	SIL, SILV		8739560	Standard	NM_001200053		Approved	D12S53E, SI, Pmel17, gp100	uc001siq.3	P40967		ENST00000548747.1:c.470-1G>A	chr12.hg19:g.56351868C>T		62.0	0.0		34.0	4.0	NM_001200054	B3KS57|B7Z6D7|Q12763|Q14448|Q14817|Q16565	Missense_Mutation	SNP	ENST00000548747.1	hg19	CCDS8897.1	.	.	.	.	.	.	.	.	.	.	C	17.25	3.341944	0.61073	.	.	ENSG00000185664	ENST00000449260;ENST00000552882;ENST00000550464;ENST00000548747;ENST00000548493;ENST00000360714;ENST00000536427;ENST00000539511;ENST00000546543	T;T;T;T;T;T;T;T;T	0.30448	1.68;1.71;1.92;1.71;1.71;1.69;1.53;1.92;2.12	4.68	3.8	0.43715	.	0.121832	0.38111	N	0.001806	T	0.34337	0.0894	L	0.56769	1.78	0.80722	D	1	P;P;B	0.46912	0.886;0.608;0.414	P;B;B	0.44422	0.449;0.244;0.064	T	0.30707	-0.9969	10	0.66056	D	0.02	.	12.822	0.57698	0.0:0.918:0.0:0.082	.	71;157;157	P40967-3;P40967-2;P40967	.;.;PMEL_HUMAN	D	157;157;71;157;157;157;157;71;108	ENSP00000402758:G157D;ENSP00000449690:G157D;ENSP00000450036:G71D;ENSP00000448828:G157D;ENSP00000447374:G157D;ENSP00000353940:G157D;ENSP00000438695:G157D;ENSP00000445005:G71D;ENSP00000446662:G108D	ENSP00000353940:G157D	G	-	2	0	PMEL	54638135	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.164000	0.58190	1.581000	0.49865	0.655000	0.94253	GGC	.	.		0.532	PMEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409626.1	NM_006928	Missense_Mutation
PAN2	9924	hgsc.bcm.edu	37	12	56722129	56722129	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr12:56722129C>A	ENST00000425394.2	-	4	842	c.466G>T	c.(466-468)Gag>Tag	p.E156*	PAN2_ENST00000548043.1_Nonsense_Mutation_p.E156*|PAN2_ENST00000257931.5_Nonsense_Mutation_p.E156*|PAN2_ENST00000440411.3_Nonsense_Mutation_p.E156*	NM_001127460.2	NP_001120932	Q9HBH5	RDH14_HUMAN	PAN2 poly(A) specific ribonuclease subunit	0					osteoblast differentiation (GO:0001649)	endoplasmic reticulum (GO:0005783)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41					Vitamin A(DB00162)	TGCATATCCTCATTCTCATCC	0.527																																					p.E156X		Atlas-SNP	.											.	PAN2	107	.	0			c.G466T						.						132.0	125.0	127.0					12																	56722129		2203	4300	6503	SO:0001587	stop_gained	9924	exon4			TATCCTCATTCTC	AB014610	CCDS8915.1, CCDS44922.1, CCDS53802.1	12q13.2	2014-03-27	2014-03-27	2008-01-08		ENSG00000135473		"""Ubiquitin-specific peptidases"""	20074	protein-coding gene	gene with protein product	"""PAN2 homolog, PABP1 dependent poly A specific ribonuclease subunit (S. cerevisiae)"""		"""ubiquitin specific protease 52"", ""ubiquitin specific peptidase 52"", ""PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"""	USP52		12838346, 14583602	Standard	NM_014871		Approved	KIAA0710, hPAN2	uc001skx.3	Q504Q3	OTTHUMG00000170412	ENST00000425394.2:c.466G>T	chr12.hg19:g.56722129C>A	ENSP00000401721:p.Glu156*	157.0	0.0		83.0	4.0	NM_014871		Nonsense_Mutation	SNP	ENST00000425394.2	hg19	CCDS44922.1	.	.	.	.	.	.	.	.	.	.	C	37	6.581295	0.97680	.	.	ENSG00000135473	ENST00000425394;ENST00000440411;ENST00000257931;ENST00000548043;ENST00000547572	.	.	.	4.7	4.7	0.59300	.	0.193497	0.46758	D	0.000277	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	-20.7282	10.5273	0.44957	0.0:0.9096:0.0:0.0904	.	.	.	.	X	156;156;156;156;17	.	ENSP00000257931:E156X	E	-	1	0	PAN2	55008396	1.000000	0.71417	0.998000	0.56505	0.904000	0.53231	4.656000	0.61483	2.601000	0.87937	0.655000	0.94253	GAG	.	.		0.527	PAN2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409024.1	NM_014871	
BAZ2A	11176	hgsc.bcm.edu	37	12	56998513	56998513	+	Missense_Mutation	SNP	C	C	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr12:56998513C>T	ENST00000551812.1	-	15	3018	c.2825G>A	c.(2824-2826)cGc>cAc	p.R942H	BAZ2A_ENST00000379441.3_Missense_Mutation_p.R912H|BAZ2A_ENST00000549884.1_Missense_Mutation_p.R940H|BAZ2A_ENST00000179765.5_Missense_Mutation_p.R910H	NM_013449.3	NP_038477.2	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	942					chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA methylation (GO:0006306)|heterochromatin assembly involved in chromatin silencing (GO:0070869)|histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|histone H4 deacetylation (GO:0070933)|histone H4-K20 methylation (GO:0034770)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|nucleolus (GO:0005730)|rDNA heterochromatin (GO:0033553)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|lysine-acetylated histone binding (GO:0070577)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						AAGGAAGCAGCGCAGGATCTC	0.572																																					p.R942H		Atlas-SNP	.											.	BAZ2A	263	.	0			c.G2825A						.						77.0	73.0	75.0					12																	56998513		2046	4203	6249	SO:0001583	missense	11176	exon15			AAGCAGCGCAGGA	AB032254	CCDS44924.1, CCDS73483.1	12q13.3	2013-01-28				ENSG00000076108		"""Zinc fingers, PHD-type"""	962	protein-coding gene	gene with protein product	"""TTF-I interacting peptide 5"""	605682				10662543, 11532953	Standard	XM_005268596		Approved	KIAA0314, TIP5, WALp3	uc001slq.1	Q9UIF9	OTTHUMG00000170332	ENST00000551812.1:c.2825G>A	chr12.hg19:g.56998513C>T	ENSP00000446880:p.Arg942His	142.0	0.0		85.0	4.0	NM_013449	B3KN66|O00536|O15030|Q68DI8|Q96H26	Missense_Mutation	SNP	ENST00000551812.1	hg19	CCDS44924.1	.	.	.	.	.	.	.	.	.	.	C	35	5.507844	0.96386	.	.	ENSG00000076108	ENST00000379441;ENST00000179765;ENST00000551812;ENST00000549884	T;T;T;T	0.78924	-1.16;-1.16;-1.22;-1.22	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	D	0.88555	0.6468	M	0.78049	2.395	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.89494	0.3759	10	0.87932	D	0	.	18.3119	0.90203	0.0:1.0:0.0:0.0	.	940;942	F8VU39;Q9UIF9	.;BAZ2A_HUMAN	H	912;910;942;940	ENSP00000368754:R912H;ENSP00000179765:R910H;ENSP00000446880:R942H;ENSP00000447941:R940H	ENSP00000179765:R910H	R	-	2	0	BAZ2A	55284780	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	2.721000	0.47260	2.687000	0.91594	0.655000	0.94253	CGC	.	.		0.572	BAZ2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408561.1	NM_013449	
BAZ2A	11176	hgsc.bcm.edu	37	12	56999021	56999021	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr12:56999021A>G	ENST00000551812.1	-	14	2783	c.2590T>C	c.(2590-2592)Ttt>Ctt	p.F864L	BAZ2A_ENST00000379441.3_Missense_Mutation_p.F834L|BAZ2A_ENST00000549884.1_Missense_Mutation_p.F862L|BAZ2A_ENST00000179765.5_Missense_Mutation_p.F832L	NM_013449.3	NP_038477.2	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	864	DDT. {ECO:0000255|PROSITE- ProRule:PRU00063}.				chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA methylation (GO:0006306)|heterochromatin assembly involved in chromatin silencing (GO:0070869)|histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|histone H4 deacetylation (GO:0070933)|histone H4-K20 methylation (GO:0034770)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|nucleolus (GO:0005730)|rDNA heterochromatin (GO:0033553)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|lysine-acetylated histone binding (GO:0070577)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						ACCTTGCCAAAGCTATGCAGG	0.572																																					p.F864L		Atlas-SNP	.											.	BAZ2A	263	.	0			c.T2590C						.						57.0	54.0	55.0					12																	56999021		1972	4158	6130	SO:0001583	missense	11176	exon14			TGCCAAAGCTATG	AB032254	CCDS44924.1, CCDS73483.1	12q13.3	2013-01-28				ENSG00000076108		"""Zinc fingers, PHD-type"""	962	protein-coding gene	gene with protein product	"""TTF-I interacting peptide 5"""	605682				10662543, 11532953	Standard	XM_005268596		Approved	KIAA0314, TIP5, WALp3	uc001slq.1	Q9UIF9	OTTHUMG00000170332	ENST00000551812.1:c.2590T>C	chr12.hg19:g.56999021A>G	ENSP00000446880:p.Phe864Leu	183.0	0.0		97.0	4.0	NM_013449	B3KN66|O00536|O15030|Q68DI8|Q96H26	Missense_Mutation	SNP	ENST00000551812.1	hg19	CCDS44924.1	.	.	.	.	.	.	.	.	.	.	A	35	5.455615	0.96223	.	.	ENSG00000076108	ENST00000379441;ENST00000179765;ENST00000551812;ENST00000549884	D;D;D;D	0.83837	-1.72;-1.72;-1.77;-1.77	5.03	5.03	0.67393	DDT domain superfamily (1);DDT domain, subgroup (1);DDT domain (1);	0.063541	0.64402	D	0.000004	D	0.86916	0.6048	M	0.72118	2.19	0.50313	D	0.999865	P;P	0.52463	0.942;0.953	P;P	0.52454	0.573;0.699	D	0.88730	0.3236	10	0.87932	D	0	.	14.0748	0.64882	1.0:0.0:0.0:0.0	.	862;864	F8VU39;Q9UIF9	.;BAZ2A_HUMAN	L	834;832;864;862	ENSP00000368754:F834L;ENSP00000179765:F832L;ENSP00000446880:F864L;ENSP00000447941:F862L	ENSP00000179765:F832L	F	-	1	0	BAZ2A	55285288	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.215000	0.95146	2.040000	0.60383	0.533000	0.62120	TTT	.	.		0.572	BAZ2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408561.1	NM_013449	
BAZ2A	11176	hgsc.bcm.edu	37	12	57005366	57005366	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr12:57005366A>G	ENST00000551812.1	-	7	1860	c.1667T>C	c.(1666-1668)cTc>cCc	p.L556P	BAZ2A_ENST00000379441.3_Missense_Mutation_p.L526P|BAZ2A_ENST00000549884.1_Missense_Mutation_p.L554P|BAZ2A_ENST00000179765.5_Missense_Mutation_p.L524P	NM_013449.3	NP_038477.2	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	556	MBD. {ECO:0000255|PROSITE- ProRule:PRU00338}.				chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA methylation (GO:0006306)|heterochromatin assembly involved in chromatin silencing (GO:0070869)|histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|histone H4 deacetylation (GO:0070933)|histone H4-K20 methylation (GO:0034770)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|nucleolus (GO:0005730)|rDNA heterochromatin (GO:0033553)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|lysine-acetylated histone binding (GO:0070577)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						CCCATGTTGGAGGGGAAGACG	0.423																																					p.L556P		Atlas-SNP	.											.	BAZ2A	263	.	0			c.T1667C						.						89.0	83.0	85.0					12																	57005366		1896	4131	6027	SO:0001583	missense	11176	exon7			TGTTGGAGGGGAA	AB032254	CCDS44924.1, CCDS73483.1	12q13.3	2013-01-28				ENSG00000076108		"""Zinc fingers, PHD-type"""	962	protein-coding gene	gene with protein product	"""TTF-I interacting peptide 5"""	605682				10662543, 11532953	Standard	XM_005268596		Approved	KIAA0314, TIP5, WALp3	uc001slq.1	Q9UIF9	OTTHUMG00000170332	ENST00000551812.1:c.1667T>C	chr12.hg19:g.57005366A>G	ENSP00000446880:p.Leu556Pro	209.0	0.0		117.0	5.0	NM_013449	B3KN66|O00536|O15030|Q68DI8|Q96H26	Missense_Mutation	SNP	ENST00000551812.1	hg19	CCDS44924.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	20.2|20.2	3.949878|3.949878	0.73787|0.73787	.|.	.|.	ENSG00000076108|ENSG00000076108	ENST00000379441;ENST00000179765;ENST00000551812;ENST00000549884|ENST00000551996	D;D;D;D|.	0.99845|.	-7.12;-7.12;-7.12;-7.12|.	4.84|4.84	4.84|4.84	0.62591|0.62591	Methyl-CpG DNA binding (4);DNA-binding, integrase-type (1);|.	0.076866|.	0.51477|.	D|.	0.000097|.	T|T	0.69904|0.69904	0.3163|0.3163	L|L	0.61218|0.61218	1.895|1.895	0.80722|0.80722	D|D	1|1	D;D|.	0.76494|.	0.997;0.999|.	D;D|.	0.91635|.	0.994;0.999|.	T|T	0.69480|0.69480	-0.5134|-0.5134	10|5	0.87932|.	D|.	0|.	.|.	13.8311|13.8311	0.63382|0.63382	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	554;556|.	F8VU39;Q9UIF9|.	.;BAZ2A_HUMAN|.	P|P	526;524;556;554|204	ENSP00000368754:L526P;ENSP00000179765:L524P;ENSP00000446880:L556P;ENSP00000447941:L554P|.	ENSP00000179765:L524P|.	L|S	-|-	2|1	0|0	BAZ2A|BAZ2A	55291633|55291633	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	6.738000|6.738000	0.74822|0.74822	2.170000|2.170000	0.68504|0.68504	0.379000|0.379000	0.24179|0.24179	CTC|TCC	.	.		0.423	BAZ2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408561.1	NM_013449	
GPR182	11318	hgsc.bcm.edu	37	12	57389925	57389925	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr12:57389925T>C	ENST00000300098.1	+	2	1151	c.932T>C	c.(931-933)cTg>cCg	p.L311P	RP11-474N8.5_ENST00000556850.1_RNA|HBCBP_ENST00000600202.1_5'Flank	NM_007264.3	NP_009195.1	O15218	GP182_HUMAN	G protein-coupled receptor 182	311					cell surface receptor signaling pathway (GO:0007166)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)			endometrium(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	15						TTCTCCATGCTGCACTGTGTC	0.542																																					p.L311P		Atlas-SNP	.											.	GPR182	35	.	0			c.T932C						.						250.0	217.0	228.0					12																	57389925		2203	4300	6503	SO:0001583	missense	11318	exon2			CCATGCTGCACTG	Y13583	CCDS8927.1	12q13.3	2012-08-21	2007-09-24	2007-09-24		ENSG00000166856		"""GPCR / Class A : Orphans"""	13708	protein-coding gene	gene with protein product		605307	"""adrenomedullin receptor"""	ADMR		9367907, 9535752	Standard	NM_007264		Approved	hrhAMR, G10D, AM-R	uc001smk.3	O15218		ENST00000300098.1:c.932T>C	chr12.hg19:g.57389925T>C	ENSP00000300098:p.Leu311Pro	139.0	0.0		83.0	4.0	NM_007264		Missense_Mutation	SNP	ENST00000300098.1	hg19	CCDS8927.1	.	.	.	.	.	.	.	.	.	.	T	19.23	3.786616	0.70337	.	.	ENSG00000166856	ENST00000300098	T	0.44881	0.91	4.31	4.31	0.51392	GPCR, rhodopsin-like superfamily (1);	0.163489	0.41194	D	0.000936	T	0.64011	0.2560	M	0.81802	2.56	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.69289	-0.5184	10	0.87932	D	0	.	11.7228	0.51691	0.0:0.0:0.0:1.0	.	311	O15218	GP182_HUMAN	P	311	ENSP00000300098:L311P	ENSP00000300098:L311P	L	+	2	0	GPR182	55676192	1.000000	0.71417	0.999000	0.59377	0.971000	0.66376	7.821000	0.86641	1.920000	0.55613	0.459000	0.35465	CTG	.	.		0.542	GPR182-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411212.1	NM_007264	
PIP4K2C	79837	hgsc.bcm.edu	37	12	57989718	57989718	+	Silent	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr12:57989718T>C	ENST00000354947.5	+	4	433	c.417T>C	c.(415-417)ggT>ggC	p.G139G	PIP4K2C_ENST00000540759.2_Silent_p.G139G|PIP4K2C_ENST00000550465.1_Silent_p.G121G|PIP4K2C_ENST00000422156.3_Intron			Q8TBX8	PI42C_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, gamma	139	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	1-phosphatidylinositol-5-phosphate 4-kinase activity (GO:0016309)|ATP binding (GO:0005524)|identical protein binding (GO:0042802)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(13)|pancreas(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Melanoma(17;0.122)					GCAGTGATGGTCGCTTCCTTA	0.502																																					p.G139G		Atlas-SNP	.											.	PIP4K2C	50	.	0			c.T417C						.						155.0	137.0	143.0					12																	57989718		2203	4300	6503	SO:0001819	synonymous_variant	79837	exon4			TGATGGTCGCTTC	AK125526	CCDS8946.1, CCDS53808.1, CCDS55839.1	12q13.3	2014-09-04	2007-08-14	2007-08-14	ENSG00000166908	ENSG00000166908			23786	protein-coding gene	gene with protein product			"""phosphatidylinositol-4-phosphate 5-kinase, type II, gamma"""	PIP5K2C		9367159	Standard	NM_024779		Approved	FLJ22055	uc001sot.3	Q8TBX8	OTTHUMG00000170144	ENST00000354947.5:c.417T>C	chr12.hg19:g.57989718T>C		146.0	0.0		87.0	4.0	NM_001146258	B2RDL3|B4DM11|B4DY44|Q9H6N2	Silent	SNP	ENST00000354947.5	hg19	CCDS8946.1																																																																																			.	.		0.502	PIP4K2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407644.1	NM_024779	
AVIL	10677	hgsc.bcm.edu	37	12	58191678	58191678	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr12:58191678T>C	ENST00000257861.3	-	19	2877	c.2447A>G	c.(2446-2448)aAg>aGg	p.K816R	AVIL_ENST00000537081.1_Missense_Mutation_p.K809R|TSFM_ENST00000550559.1_Intron|TSFM_ENST00000543727.1_Intron|TSFM_ENST00000548851.1_Intron	NM_006576.3	NP_006567.3	O75366	AVIL_HUMAN	advillin	816	HP. {ECO:0000255|PROSITE- ProRule:PRU00595}.|Headpiece. {ECO:0000250}.				actin filament capping (GO:0051693)|cilium morphogenesis (GO:0060271)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|positive regulation of neuron projection development (GO:0010976)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)	actin binding (GO:0003779)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					GAAAAGCCCCTTTTCTTTCTT	0.433																																					p.K816R		Atlas-SNP	.											.	AVIL	60	.	0			c.A2447G						.						131.0	124.0	127.0					12																	58191678		2203	4300	6503	SO:0001583	missense	10677	exon19			AGCCCCTTTTCTT	AF041449	CCDS8959.1	12q13.11	2006-03-30				ENSG00000135407			14188	protein-coding gene	gene with protein product		613397				9664034, 12034507	Standard	NM_006576		Approved	p92, FLJ12386, ADVIL, DOC6	uc001sqj.2	O75366	OTTHUMG00000170461	ENST00000257861.3:c.2447A>G	chr12.hg19:g.58191678T>C	ENSP00000257861:p.Lys816Arg	99.0	0.0		84.0	4.0	NM_006576	B2RAU7|Q2NKM9	Missense_Mutation	SNP	ENST00000257861.3	hg19	CCDS8959.1	.	.	.	.	.	.	.	.	.	.	T	7.605	0.673531	0.14776	.	.	ENSG00000135407	ENST00000537081;ENST00000257861	T;T	0.15017	2.46;2.47	4.99	3.16	0.36331	Villin headpiece (5);	0.232479	0.43919	N	0.000508	T	0.10337	0.0253	L	0.34521	1.04	0.32508	N	0.537928	B;B	0.12013	0.001;0.005	B;B	0.21708	0.005;0.036	T	0.18618	-1.0331	10	0.19147	T	0.46	-21.4233	3.1009	0.06325	0.1729:0.2567:0.0:0.5704	.	809;816	O75366-2;O75366	.;AVIL_HUMAN	R	809;816	ENSP00000443207:K809R;ENSP00000257861:K816R	ENSP00000257861:K816R	K	-	2	0	AVIL	56477945	0.007000	0.16637	1.000000	0.80357	0.996000	0.88848	0.211000	0.17474	0.546000	0.28920	0.459000	0.35465	AAG	.	.		0.433	AVIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409276.1	NM_006576	
IL22	50616	hgsc.bcm.edu	37	12	68646556	68646556	+	Missense_Mutation	SNP	G	G	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr12:68646556G>T	ENST00000538666.1	-	3	310	c.240C>A	c.(238-240)ttC>ttA	p.F80L	IL22_ENST00000328087.4_Missense_Mutation_p.F80L			Q9GZX6	IL22_HUMAN	interleukin 22	80					acute-phase response (GO:0006953)|cell-cell signaling (GO:0007267)|inflammatory response (GO:0006954)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	interleukin-22 receptor binding (GO:0045518)			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	14		Myeloproliferative disorder(1001;0.0255)	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;5.06e-05)|BRCA - Breast invasive adenocarcinoma(357;0.00104)		TGACTCCGTGGAACAGTTTCT	0.488																																					p.F80L		Atlas-SNP	.											.	IL22	21	.	0			c.C240A						.						133.0	115.0	121.0					12																	68646556		2203	4300	6503	SO:0001583	missense	50616	exon2			TCCGTGGAACAGT	AF279437	CCDS8982.1	12q15	2014-05-22			ENSG00000127318	ENSG00000127318		"""Interleukins and interleukin receptors"""	14900	protein-coding gene	gene with protein product	"""IL-10-related T-cell-derived inducible factor"""	605330				10954742, 10875937	Standard	NM_020525		Approved	ILTIF, IL-21, zcyto18, IL-TIF, IL-D110, TIFa, TIFIL-23, IL-22, MGC79382, MGC79384	uc001sty.1	Q9GZX6	OTTHUMG00000169119	ENST00000538666.1:c.240C>A	chr12.hg19:g.68646556G>T	ENSP00000442424:p.Phe80Leu	119.0	0.0		73.0	4.0	NM_020525		Missense_Mutation	SNP	ENST00000538666.1	hg19	CCDS8982.1	.	.	.	.	.	.	.	.	.	.	g	12.49	1.953102	0.34471	.	.	ENSG00000127318	ENST00000538666;ENST00000328087	T;T	0.52526	0.66;0.66	5.13	2.22	0.28083	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.600755	0.16897	N	0.195059	T	0.39036	0.1063	M	0.72118	2.19	0.09310	N	1	P	0.38250	0.624	B	0.32393	0.145	T	0.27468	-1.0073	9	.	.	.	-4.3059	5.2429	0.15481	0.2531:0.1507:0.5962:0.0	.	80	Q9GZX6	IL22_HUMAN	L	80	ENSP00000442424:F80L;ENSP00000329384:F80L	.	F	-	3	2	IL22	66932823	0.009000	0.17119	0.003000	0.11579	0.138000	0.21146	0.490000	0.22403	0.364000	0.24374	0.558000	0.71614	TTC	.	.		0.488	IL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402318.1	NM_020525	
NAV3	89795	hgsc.bcm.edu	37	12	78401192	78401192	+	Missense_Mutation	SNP	C	C	A	rs573896613	byFrequency	TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr12:78401192C>A	ENST00000397909.2	+	8	2047	c.1874C>A	c.(1873-1875)cCg>cAg	p.P625Q	NAV3_ENST00000228327.6_Missense_Mutation_p.P625Q|NAV3_ENST00000266692.7_Missense_Mutation_p.P625Q|NAV3_ENST00000536525.2_Missense_Mutation_p.P625Q			Q8IVL0	NAV3_HUMAN	neuron navigator 3	625						membrane (GO:0016020)|nuclear envelope (GO:0005635)		p.P625Q(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CATAGCCACCCGAATACCGCG	0.478										HNSCC(70;0.22)																											p.P625Q		Atlas-SNP	.											NAV3,right_lower_lobe,carcinoma,0,1	NAV3	506	.	1	Substitution - Missense(1)	lung(1)	c.C1874A						.						122.0	120.0	121.0					12																	78401192		2068	4200	6268	SO:0001583	missense	89795	exon8			GCCACCCGAATAC	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.1874C>A	chr12.hg19:g.78401192C>A	ENSP00000381007:p.Pro625Gln	50.0	0.0		36.0	2.0	NM_014903	Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	hg19		.	.	.	.	.	.	.	.	.	.	C	18.23	3.577759	0.65878	.	.	ENSG00000067798	ENST00000549464;ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692	T;T;T;T;T	0.15603	2.41;2.41;2.41;2.41;2.41	4.84	4.84	0.62591	.	0.384049	0.18564	U	0.137533	T	0.41834	0.1176	M	0.61703	1.905	0.80722	D	1	D;D	0.89917	0.981;1.0	P;D	0.91635	0.831;0.999	T	0.29731	-1.0002	10	0.62326	D	0.03	-4.6907	17.9357	0.89011	0.0:1.0:0.0:0.0	.	625;625	Q8IVL0;Q8IVL0-2	NAV3_HUMAN;.	Q	625	ENSP00000446628:P625Q;ENSP00000446132:P625Q;ENSP00000381007:P625Q;ENSP00000228327:P625Q;ENSP00000266692:P625Q	ENSP00000228327:P625Q	P	+	2	0	NAV3	76925323	1.000000	0.71417	0.925000	0.36789	0.570000	0.35934	7.625000	0.83145	2.243000	0.73865	0.555000	0.69702	CCG	.	.		0.478	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383	
NAV3	89795	hgsc.bcm.edu	37	12	78598913	78598913	+	Missense_Mutation	SNP	C	C	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr12:78598913C>A	ENST00000397909.2	+	39	7206	c.7033C>A	c.(7033-7035)Ccc>Acc	p.P2345T	NAV3_ENST00000228327.6_Missense_Mutation_p.P2323T|NAV3_ENST00000266692.7_Missense_Mutation_p.P2146T|NAV3_ENST00000536525.2_Missense_Mutation_p.P2323T|NAV3_ENST00000541270.1_Missense_Mutation_p.P175T			Q8IVL0	NAV3_HUMAN	neuron navigator 3	2345						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						AGAAGGAGATCCCCTGGTAAG	0.403										HNSCC(70;0.22)																											p.P2323T		Atlas-SNP	.											.	NAV3	506	.	0			c.C6967A						.						76.0	83.0	81.0					12																	78598913		1986	4167	6153	SO:0001583	missense	89795	exon38			GGAGATCCCCTGG	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.7033C>A	chr12.hg19:g.78598913C>A	ENSP00000381007:p.Pro2345Thr	69.0	0.0		58.0	4.0	NM_014903	Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.92|17.92	3.507327|3.507327	0.64410|0.64410	.|.	.|.	ENSG00000067798|ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692;ENST00000541270|ENST00000552895;ENST00000551162	T;T;T;T;T|.	0.59638|.	0.41;0.44;0.4;0.66;0.25|.	5.14|5.14	5.14|5.14	0.70334|0.70334	.|.	0.000000|.	0.40064|.	U|.	0.001195|.	D|D	0.83514|0.83514	0.5271|0.5271	M|M	0.87758|0.87758	2.905|2.905	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.97110|.	1.0;0.996;0.998;0.998|.	D|D	0.85978|0.85978	0.1481|0.1481	10|5	0.87932|.	D|.	0|.	-13.4514|-13.4514	18.587|18.587	0.91194|0.91194	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	2323;2146;2345;2323|.	E7EUC6;Q8IVL0-3;Q8IVL0;Q8IVL0-2|.	.;.;NAV3_HUMAN;.|.	T|Y	2323;2345;2323;2146;175|1217;212	ENSP00000446132:P2323T;ENSP00000381007:P2345T;ENSP00000228327:P2323T;ENSP00000266692:P2146T;ENSP00000444918:P175T|.	ENSP00000228327:P2323T|.	P|S	+|+	1|2	0|0	NAV3|NAV3	77123044|77123044	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.358000|0.358000	0.29455|0.29455	7.818000|7.818000	0.86416|0.86416	2.389000|2.389000	0.81357|0.81357	0.467000|0.467000	0.42956|0.42956	CCC|TCC	.	.		0.403	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383	
PTPRQ	374462	hgsc.bcm.edu	37	12	80998862	80998862	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr12:80998862T>C	ENST00000266688.5	+	32	4622	c.4622T>C	c.(4621-4623)gTt>gCt	p.V1541A				Q9UMZ3	PTPRQ_HUMAN	protein tyrosine phosphatase, receptor type, Q	1587	Fibronectin type-III 16. {ECO:0000255|PROSITE-ProRule:PRU00316}.				regulation of fat cell differentiation (GO:0045598)	integral component of membrane (GO:0016021)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(7)|kidney(9)|lung(2)|prostate(1)|skin(2)|stomach(2)	24						CCTGAAAATGTTCATGTAGTA	0.368																																					p.V1373A		Atlas-SNP	.											.	PTPRQ	119	.	0			c.T4118C						.						170.0	131.0	142.0					12																	80998862		692	1590	2282	SO:0001583	missense	374462	exon24			AAAATGTTCATGT	AF169351	CCDS73501.1	12q21.31	2013-02-11	2001-12-04		ENSG00000139304	ENSG00000139304		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9679	protein-coding gene	gene with protein product		603317	"""deafness, autosomal recessive 84"""	DFNB84		20346435	Standard	NM_001145026		Approved		uc001sze.2	Q9UMZ3	OTTHUMG00000170171	ENST00000266688.5:c.4622T>C	chr12.hg19:g.80998862T>C	ENSP00000266688:p.Val1541Ala	132.0	0.0		86.0	4.0	NM_001145026		Missense_Mutation	SNP	ENST00000266688.5	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.38|17.38	3.375957|3.375957	0.61735|0.61735	.|.	.|.	ENSG00000139304|ENSG00000139304	ENST00000532722|ENST00000266688	.|T	.|0.60797	.|0.16	6.03|6.03	6.03|6.03	0.97812|0.97812	.|Fibronectin, type III (4);Immunoglobulin-like fold (1);	.|.	.|.	.|.	.|.	T|T	0.73575|0.73575	0.3604|0.3604	.|.	.|.	.|.	0.40762|0.40762	D|D	0.98301|0.98301	.|D	.|0.57899	.|0.981	.|P	.|0.59546	.|0.859	T|T	0.77096|0.77096	-0.2714|-0.2714	4|8	.|0.62326	.|D	.|0.03	.|.	16.5655|16.5655	0.84588|0.84588	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|1587	.|Q9UMZ3	.|PTPRQ_HUMAN	L|A	1242|1541	.|ENSP00000266688:V1541A	.|ENSP00000266688:V1541A	F|V	+|+	1|2	0|0	PTPRQ|PTPRQ	79522993|79522993	1.000000|1.000000	0.71417|0.71417	0.873000|0.873000	0.34254|0.34254	0.942000|0.942000	0.58702|0.58702	5.419000|5.419000	0.66435|0.66435	2.302000|2.302000	0.77476|0.77476	0.533000|0.533000	0.62120|0.62120	TTC|GTT	.	.		0.368	PTPRQ-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001145026	
TMTC3	160418	hgsc.bcm.edu	37	12	88566387	88566387	+	Missense_Mutation	SNP	T	T	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr12:88566387T>A	ENST00000266712.6	+	8	1284	c.1064T>A	c.(1063-1065)aTg>aAg	p.M355K		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	355					bud outgrowth involved in lung branching (GO:0060447)|lung alveolus development (GO:0048286)|muscle fiber development (GO:0048747)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						CTTTGTTTAATGGCATTACCA	0.289																																					p.M355K		Atlas-SNP	.											.	TMTC3	75	.	0			c.T1064A						.						108.0	100.0	102.0					12																	88566387		2203	4300	6503	SO:0001583	missense	160418	exon8			GTTTAATGGCATT		CCDS9032.1	12q21.32	2014-09-04			ENSG00000139324	ENSG00000139324		"""Tetratricopeptide (TTC) repeat domain containing"""	26899	protein-coding gene	gene with protein product							Standard	NM_181783		Approved	FLJ90492, SMILE	uc001tau.3	Q6ZXV5	OTTHUMG00000169887	ENST00000266712.6:c.1064T>A	chr12.hg19:g.88566387T>A	ENSP00000266712:p.Met355Lys	132.0	0.0		76.0	4.0	NM_181783	Q5CZ86|Q5H9T6|Q68DQ6|Q68DX0|Q7Z332|Q8NC50	Missense_Mutation	SNP	ENST00000266712.6	hg19	CCDS9032.1	.	.	.	.	.	.	.	.	.	.	T	18.00	3.524355	0.64747	.	.	ENSG00000139324	ENST00000266712	T	0.43688	0.94	5.73	5.73	0.89815	.	0.137070	0.64402	D	0.000001	T	0.52370	0.1730	M	0.82193	2.58	0.53688	D	0.999977	B	0.28933	0.228	B	0.33454	0.164	T	0.56408	-0.7984	10	0.62326	D	0.03	-9.3112	16.0064	0.80363	0.0:0.0:0.0:1.0	.	355	Q6ZXV5-2	.	K	355	ENSP00000266712:M355K	ENSP00000266712:M355K	M	+	2	0	TMTC3	87090518	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.040000	0.89188	2.171000	0.68590	0.528000	0.53228	ATG	.	.		0.289	TMTC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406421.1	NM_181783	
METAP2	10988	hgsc.bcm.edu	37	12	95888769	95888769	+	Silent	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr12:95888769A>G	ENST00000323666.5	+	6	856	c.627A>G	c.(625-627)aaA>aaG	p.K209K	METAP2_ENST00000261220.9_Silent_p.K186K|METAP2_ENST00000550777.1_Silent_p.K173K|METAP2_ENST00000546753.1_Silent_p.K186K|METAP2_ENST00000551840.1_Silent_p.K208K	NM_006838.3	NP_006829.1			methionyl aminopeptidase 2											endometrium(3)|large_intestine(2)|lung(7)|prostate(1)	13						AGTTAATAAAAGAGAATGGAT	0.353																																					p.K209K		Atlas-SNP	.											.	METAP2	28	.	0			c.A627G						.						93.0	92.0	93.0					12																	95888769		2203	4300	6503	SO:0001819	synonymous_variant	10988	exon6			AATAAAAGAGAAT	U13261	CCDS9052.1	12q22	2014-09-04			ENSG00000111142		3.4.11.18		16672	protein-coding gene	gene with protein product	"""Peptidase M"""	601870				7644482, 8858118	Standard	NM_006838		Approved	MNPEP, p67, MAP2	uc001tec.3	P50579	OTTHUMG00000170280	ENST00000323666.5:c.627A>G	chr12.hg19:g.95888769A>G		180.0	0.0		91.0	4.0	NM_006838		Silent	SNP	ENST00000323666.5	hg19	CCDS9052.1																																																																																			.	.		0.353	METAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408296.1	NM_006838	
USP44	84101	hgsc.bcm.edu	37	12	95922582	95922582	+	Splice_Site	SNP	C	C	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr12:95922582C>T	ENST00000258499.3	-	3	1913		c.e3+1		USP44_ENST00000537435.2_Splice_Site|USP44_ENST00000393091.2_Splice_Site|USP44_ENST00000552440.1_Intron	NM_001278393.1|NM_032147.2	NP_001265322.1|NP_115523.2	Q9H0E7	UBP44_HUMAN	ubiquitin specific peptidase 44						mitotic nuclear division (GO:0007067)|negative regulation of mitotic anaphase-promoting complex activity (GO:0060564)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein deubiquitination (GO:0016579)|regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)|regulation of spindle checkpoint (GO:0090231)	nucleus (GO:0005634)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						TCTTTACTCACAGTTACACTG	0.383																																					.		Atlas-SNP	.											.	USP44	83	.	0			c.1624+1G>A						.						108.0	103.0	105.0					12																	95922582		2203	4300	6503	SO:0001630	splice_region_variant	84101	exon4			TACTCACAGTTAC	AK027434	CCDS9053.1	12q21.33	2005-08-08	2005-08-08			ENSG00000136014		"""Ubiquitin-specific peptidases"""	20064	protein-coding gene	gene with protein product		610993	"""ubiquitin specific protease 44"""			12838346	Standard	NM_001278393		Approved	FLJ14528	uc001teg.3	Q9H0E7		ENST00000258499.3:c.1624+1G>A	chr12.hg19:g.95922582C>T		176.0	0.0		100.0	5.0	NM_032147	B2RDW3	Splice_Site	SNP	ENST00000258499.3	hg19	CCDS9053.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.335778	0.81801	.	.	ENSG00000136014	ENST00000258499;ENST00000393091;ENST00000537435	.	.	.	5.5	5.5	0.81552	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7538	0.96281	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	USP44	94446713	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	7.750000	0.85110	2.739000	0.93911	0.561000	0.74099	.	.	.		0.383	USP44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408312.1	NM_032147	Intron
NR1H4	9971	hgsc.bcm.edu	37	12	100955731	100955731	+	Missense_Mutation	SNP	C	C	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr12:100955731C>A	ENST00000551379.1	+	8	1205	c.1177C>A	c.(1177-1179)Caa>Aaa	p.Q393K	NR1H4_ENST00000392986.3_Missense_Mutation_p.Q383K|NR1H4_ENST00000548884.1_Missense_Mutation_p.Q379K|NR1H4_ENST00000188403.7_Missense_Mutation_p.Q389K|NR1H4_ENST00000549996.1_Missense_Mutation_p.Q332K			Q96RI1	NR1H4_HUMAN	nuclear receptor subfamily 1, group H, member 4	393	Ligand-binding.				bile acid metabolic process (GO:0008206)|cellular response to acid chemical (GO:0071229)|cellular response to organonitrogen compound (GO:0071417)|digestive tract development (GO:0048565)|gene expression (GO:0010467)|intracellular bile acid receptor signaling pathway (GO:0038185)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nitrogen catabolite activation of transcription from RNA polymerase II promoter (GO:0001080)|positive regulation of ammonia assimilation cycle (GO:2001250)|positive regulation of glutamate metabolic process (GO:2000213)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of carbohydrate metabolic process (GO:0006109)|regulation of cholesterol metabolic process (GO:0090181)|regulation of urea metabolic process (GO:0034255)|response to glucose (GO:0009749)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)	bile acid binding (GO:0032052)|bile acid receptor activity (GO:0038181)|chenodeoxycholic acid binding (GO:1902122)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|ligand-dependent nuclear receptor binding (GO:0016922)|peptide binding (GO:0042277)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|thyroid hormone receptor activity (GO:0004887)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44					Chenodeoxycholic acid(DB06777)	GAAAATGACTCAAGAGGAGTA	0.318																																					p.Q393K		Atlas-SNP	.											.	NR1H4	145	.	0			c.C1177A						.						82.0	85.0	84.0					12																	100955731		2203	4294	6497	SO:0001583	missense	9971	exon8			ATGACTCAAGAGG	U68233	CCDS9078.1, CCDS55873.1, CCDS55874.1, CCDS55875.1, CCDS55876.1	12q23.1	2013-01-16				ENSG00000012504		"""Nuclear hormone receptors"""	7967	protein-coding gene	gene with protein product		603826				7774010, 9223286	Standard	NM_001206977		Approved	FXR, RIP14, HRR1, HRR-1	uc001tht.2	Q96RI1	OTTHUMG00000170359	ENST00000551379.1:c.1177C>A	chr12.hg19:g.100955731C>A	ENSP00000447149:p.Gln393Lys	181.0	0.0		90.0	5.0	NM_001206993	A1L4K5|B7Z412|B7ZM06|F8VYG8|Q8NFP5|Q8NFP6|Q92943	Missense_Mutation	SNP	ENST00000551379.1	hg19	CCDS55876.1	.	.	.	.	.	.	.	.	.	.	C	17.21	3.330440	0.60743	.	.	ENSG00000012504	ENST00000548884;ENST00000392986;ENST00000549996;ENST00000551379;ENST00000188403	D;D;D;D;D	0.94931	-3.56;-3.56;-3.56;-3.56;-3.56	5.75	5.75	0.90469	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.164580	0.53938	D	0.000044	D	0.88905	0.6564	N	0.12471	0.22	0.50813	D	0.99989	P;P;P;P;B	0.50156	0.932;0.645;0.863;0.765;0.164	B;B;B;B;B	0.41723	0.365;0.291;0.289;0.233;0.094	D	0.90896	0.4765	10	0.72032	D	0.01	.	15.4381	0.75162	0.0:0.8618:0.1382:0.0	.	332;393;389;383;379	F8VYG8;Q96RI1;Q96RI1-4;F1DAL1;B6ZGS9	.;NR1H4_HUMAN;.;.;.	K	379;383;332;393;389	ENSP00000448506:Q379K;ENSP00000376712:Q383K;ENSP00000448978:Q332K;ENSP00000447149:Q393K;ENSP00000188403:Q389K	ENSP00000188403:Q389K	Q	+	1	0	NR1H4	99479862	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.276000	0.58933	2.708000	0.92522	0.650000	0.86243	CAA	.	.		0.318	NR1H4-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409140.1	NM_005123	
GAS2L3	283431	hgsc.bcm.edu	37	12	101016162	101016162	+	Splice_Site	SNP	T	T	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr12:101016162T>A	ENST00000539410.1	+	8	1142		c.e8+2		GAS2L3_ENST00000537247.1_Splice_Site|GAS2L3_ENST00000547754.1_Splice_Site|GAS2L3_ENST00000266754.5_Splice_Site			Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3						actin cytoskeleton organization (GO:0030036)|cell cycle arrest (GO:0007050)|microtubule cytoskeleton organization (GO:0000226)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	actin binding (GO:0003779)|microtubule binding (GO:0008017)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						TTTATAAGAGTAAGTCCATTA	0.318																																					.		Atlas-SNP	.											GAS2L3,colon,carcinoma,0,1	GAS2L3	76	.	0			c.756+2T>A						.						79.0	82.0	81.0					12																	101016162		2202	4299	6501	SO:0001630	splice_region_variant	283431	exon9			TAAGAGTAAGTCC	AK095594	CCDS9079.1	12q23.1	2014-09-11			ENSG00000139354	ENSG00000139354			27475	protein-coding gene	gene with protein product							Standard	NM_174942		Approved		uc001thu.3	Q86XJ1	OTTHUMG00000170439	ENST00000539410.1:c.756+2T>A	chr12.hg19:g.101016162T>A		95.0	0.0		59.0	3.0	NM_174942	B2RCN2	Splice_Site	SNP	ENST00000539410.1	hg19	CCDS9079.1	.	.	.	.	.	.	.	.	.	.	T	15.13	2.741239	0.49151	.	.	ENSG00000139354	ENST00000266754;ENST00000547754;ENST00000537247;ENST00000539410	.	.	.	5.9	5.9	0.94986	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3245	0.82970	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	GAS2L3	99540293	1.000000	0.71417	1.000000	0.80357	0.261000	0.26267	7.499000	0.81566	2.254000	0.74563	0.460000	0.39030	.	.	.		0.318	GAS2L3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409143.1	NM_174942	Intron
SLC5A8	160728	hgsc.bcm.edu	37	12	101581168	101581168	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr12:101581168T>C	ENST00000536262.2	-	7	1517	c.959A>G	c.(958-960)gAc>gGc	p.D320G		NM_145913.3	NP_666018.3			solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8											breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CTGAACCTGGTCTGGTGCAGA	0.428																																					p.D320G	GBM(60;420 1056 13605 22380 47675)	Atlas-SNP	.											.	SLC5A8	102	.	0			c.A959G						.						109.0	100.0	103.0					12																	101581168		2203	4300	6503	SO:0001583	missense	160728	exon7			ACCTGGTCTGGTG	AY081220	CCDS9080.1	12q23.1	2013-07-19	2013-07-19		ENSG00000256870	ENSG00000256870		"""Solute carriers"""	19119	protein-coding gene	gene with protein product		608044	"""solute carrier family 5 (iodide transporter), member 8"""			12107270, 12829793	Standard	NM_145913		Approved	AIT	uc001thz.4	Q8N695	OTTHUMG00000170499	ENST00000536262.2:c.959A>G	chr12.hg19:g.101581168T>C	ENSP00000445340:p.Asp320Gly	109.0	0.0		97.0	4.0	NM_145913		Missense_Mutation	SNP	ENST00000536262.2	hg19	CCDS9080.1	.	.	.	.	.	.	.	.	.	.	T	25.9	4.685914	0.88639	.	.	ENSG00000256870	ENST00000536262	D	0.89415	-2.51	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	D	0.96558	0.8877	H	0.97659	4.05	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.98043	1.0383	10	0.87932	D	0	.	15.3279	0.74182	0.0:0.0:0.0:1.0	.	320	Q8N695	SC5A8_HUMAN	G	320	ENSP00000445340:D320G	ENSP00000445340:D320G	D	-	2	0	SLC5A8	100105299	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	8.040000	0.89188	2.019000	0.59389	0.377000	0.23210	GAC	.	.		0.428	SLC5A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409401.1	NM_145913	
UTP20	27340	hgsc.bcm.edu	37	12	101683948	101683948	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr12:101683948T>C	ENST00000261637.4	+	7	805	c.631T>C	c.(631-633)Ttt>Ctt	p.F211L		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	211					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						CAATTTAATGTTTCTTGATCT	0.313																																					p.F211L		Atlas-SNP	.											.	UTP20	222	.	0			c.T631C						.						57.0	62.0	60.0					12																	101683948		2203	4300	6503	SO:0001583	missense	27340	exon7			TTAATGTTTCTTG	AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"""down regulated in metastasis"""	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.631T>C	chr12.hg19:g.101683948T>C	ENSP00000261637:p.Phe211Leu	230.0	0.0		120.0	5.0	NM_014503	Q9H3H4	Missense_Mutation	SNP	ENST00000261637.4	hg19	CCDS9081.1	.	.	.	.	.	.	.	.	.	.	T	19.07	3.755732	0.69648	.	.	ENSG00000120800	ENST00000261637	T	0.61158	0.13	5.8	4.66	0.58398	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.68007	0.2954	M	0.69823	2.125	0.54753	D	0.999987	D	0.89917	1.0	D	0.83275	0.996	T	0.69154	-0.5220	10	0.05721	T	0.95	-16.6845	10.2538	0.43385	0.0:0.1365:0.0:0.8635	.	211	O75691	UTP20_HUMAN	L	211	ENSP00000261637:F211L	ENSP00000261637:F211L	F	+	1	0	UTP20	100208079	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.346000	0.52190	1.030000	0.39839	0.477000	0.44152	TTT	.	.		0.313	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1	NM_014503	
UTP20	27340	hgsc.bcm.edu	37	12	101685546	101685546	+	Silent	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr12:101685546A>G	ENST00000261637.4	+	9	1092	c.918A>G	c.(916-918)aaA>aaG	p.K306K		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	306					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						TACACACAAAAGTAACAAAAA	0.333																																					p.K306K		Atlas-SNP	.											.	UTP20	222	.	0			c.A918G						.						58.0	59.0	58.0					12																	101685546		2203	4300	6503	SO:0001819	synonymous_variant	27340	exon9			CACAAAAGTAACA	AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"""down regulated in metastasis"""	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.918A>G	chr12.hg19:g.101685546A>G		127.0	0.0		96.0	4.0	NM_014503	Q9H3H4	Silent	SNP	ENST00000261637.4	hg19	CCDS9081.1																																																																																			.	.		0.333	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1	NM_014503	
GLT8D2	83468	hgsc.bcm.edu	37	12	104393207	104393207	+	Missense_Mutation	SNP	G	G	A	rs199929846		TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr12:104393207G>A	ENST00000360814.4	-	6	775	c.370C>T	c.(370-372)Cca>Tca	p.P124S	GLT8D2_ENST00000546436.1_Missense_Mutation_p.P124S|GLT8D2_ENST00000548660.1_Missense_Mutation_p.P124S	NM_031302.3	NP_112592.1	Q9H1C3	GL8D2_HUMAN	glycosyltransferase 8 domain containing 2	124						integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			kidney(3)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						GATGAGTCTGGTCTGATCTTC	0.448																																					p.P124S		Atlas-SNP	.											.	GLT8D2	40	.	0			c.C370T						.	G	SER/PRO	0,4406		0,0,2203	201.0	185.0	191.0		370	4.9	1.0	12		191	1,8599	1.2+/-3.3	0,1,4299	yes	missense	GLT8D2	NM_031302.3	74	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	124/350	104393207	1,13005	2203	4300	6503	SO:0001583	missense	83468	exon6			AGTCTGGTCTGAT	BC022343	CCDS9096.1	12q23.3	2013-02-22			ENSG00000120820	ENSG00000120820		"""Glycosyltransferase family 8 domain containing"""	24890	protein-coding gene	gene with protein product							Standard	NM_031302		Approved	FLJ31494	uc001tkh.1	Q9H1C3	OTTHUMG00000170120	ENST00000360814.4:c.370C>T	chr12.hg19:g.104393207G>A	ENSP00000354053:p.Pro124Ser	190.0	0.0		92.0	4.0	NM_031302	Q96KA2	Missense_Mutation	SNP	ENST00000360814.4	hg19	CCDS9096.1	.	.	.	.	.	.	.	.	.	.	G	15.81	2.942331	0.53079	0.0	1.16E-4	ENSG00000120820	ENST00000360814;ENST00000546436;ENST00000548660;ENST00000546851	T;T;T;T	0.39229	1.09;1.09;1.09;2.03	5.79	4.9	0.64082	.	0.049652	0.85682	D	0.000000	T	0.47619	0.1455	L	0.43152	1.355	0.80722	D	1	D	0.60575	0.988	P	0.55749	0.783	T	0.35301	-0.9794	10	0.09590	T	0.72	.	16.9389	0.86210	0.0:0.1279:0.8721:0.0	.	124	Q9H1C3	GL8D2_HUMAN	S	124;124;124;63	ENSP00000354053:P124S;ENSP00000449750:P124S;ENSP00000447450:P124S;ENSP00000446810:P63S	ENSP00000354053:P124S	P	-	1	0	GLT8D2	102917337	1.000000	0.71417	0.998000	0.56505	0.965000	0.64279	7.065000	0.76727	1.433000	0.47394	0.655000	0.94253	CCA	.	.		0.448	GLT8D2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407371.1	NM_031302	
KIAA1033	23325	hgsc.bcm.edu	37	12	105515979	105515979	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr12:105515979A>G	ENST00000332180.5	+	10	836	c.749A>G	c.(748-750)aAg>aGg	p.K250R		NM_015275.1	NP_056090.1			KIAA1033											breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						TTCTTGCTGAAGCTAGAAGGG	0.368																																					p.K250R		Atlas-SNP	.											.	KIAA1033	83	.	0			c.A749G						.						103.0	95.0	97.0					12																	105515979		1831	4079	5910	SO:0001583	missense	23325	exon10			TGCTGAAGCTAGA	AB028956	CCDS41826.1, CCDS73514.1	12q24.11	2014-05-09				ENSG00000136051			29174	protein-coding gene	gene with protein product		615748				20376207, 20498093, 21498477	Standard	XM_005268742		Approved	SWIP	uc001tld.3	Q2M389		ENST00000332180.5:c.749A>G	chr12.hg19:g.105515979A>G	ENSP00000328062:p.Lys250Arg	130.0	0.0		99.0	4.0	NM_015275		Missense_Mutation	SNP	ENST00000332180.5	hg19	CCDS41826.1	.	.	.	.	.	.	.	.	.	.	A	11.04	1.522123	0.27211	.	.	ENSG00000136051	ENST00000332180	T	0.30981	1.51	5.72	4.59	0.56863	.	0.136982	0.64402	D	0.000003	T	0.21103	0.0508	L	0.28740	0.885	0.43613	D	0.995988	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.04840	-1.0923	10	0.16420	T	0.52	.	11.483	0.50337	0.93:0.0:0.07:0.0	.	250;250	B7ZKT9;Q2M389	.;WASH7_HUMAN	R	250	ENSP00000328062:K250R	ENSP00000328062:K250R	K	+	2	0	KIAA1033	104040109	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.414000	0.52693	1.018000	0.39521	0.529000	0.55759	AAG	.	.		0.368	KIAA1033-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406138.4	NM_015275	
PRDM4	11108	hgsc.bcm.edu	37	12	108140127	108140127	+	Missense_Mutation	SNP	G	G	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr12:108140127G>T	ENST00000228437.5	-	6	1660	c.1201C>A	c.(1201-1203)Cca>Aca	p.P401T	RP11-864J10.4_ENST00000546714.1_RNA	NM_012406.3	NP_036538.3	Q9UKN5	PRDM4_HUMAN	PR domain containing 4	401					cell proliferation (GO:0008283)|negative regulation of cell cycle (GO:0045786)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|methyltransferase activity (GO:0008168)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	20						CTCTCTATTGGAGTGTCAGGA	0.488																																					p.P401T		Atlas-SNP	.											.	PRDM4	64	.	0			c.C1201A						.						112.0	103.0	106.0					12																	108140127		2203	4300	6503	SO:0001583	missense	11108	exon6			CTATTGGAGTGTC	AF144757	CCDS9115.1	12q23-q24.1	2013-01-08				ENSG00000110851		"""Zinc fingers, C2H2-type"""	9348	protein-coding gene	gene with protein product		605780				10552934	Standard	NM_012406		Approved	PFM1	uc001tmp.3	Q9UKN5	OTTHUMG00000169914	ENST00000228437.5:c.1201C>A	chr12.hg19:g.108140127G>T	ENSP00000228437:p.Pro401Thr	157.0	0.0		89.0	4.0	NM_012406	Q9UFA6	Missense_Mutation	SNP	ENST00000228437.5	hg19	CCDS9115.1	.	.	.	.	.	.	.	.	.	.	G	32	5.155242	0.94686	.	.	ENSG00000110851	ENST00000228437;ENST00000550659	T;T	0.59772	0.24;0.24	5.83	5.83	0.93111	.	0.052084	0.85682	D	0.000000	T	0.77579	0.4151	M	0.74467	2.265	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	T	0.77432	-0.2590	10	0.56958	D	0.05	.	20.1162	0.97934	0.0:0.0:1.0:0.0	.	401	Q9UKN5	PRDM4_HUMAN	T	401;146	ENSP00000228437:P401T;ENSP00000449295:P146T	ENSP00000228437:P401T	P	-	1	0	PRDM4	106664257	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.267000	0.95665	2.756000	0.94617	0.655000	0.94253	CCA	.	.		0.488	PRDM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406546.1	NM_012406	
CUX2	23316	hgsc.bcm.edu	37	12	111655742	111655742	+	Splice_Site	SNP	G	G	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr12:111655742G>A	ENST00000261726.6	+	3	376		c.e3+1		CUX2_ENST00000551604.2_Splice_Site	NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2						cellular response to organic substance (GO:0071310)|cognition (GO:0050890)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of synapse assembly (GO:0051965)|short-term memory (GO:0007614)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)	p.?(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						CCAAGCCGAGGTAAGACCCAG	0.562																																					.		Atlas-SNP	.											CUX2,bladder,carcinoma,0,1	CUX2	145	.	1	Unknown(1)	urinary_tract(1)	c.222+1G>A						.						73.0	79.0	77.0					12																	111655742		1883	4103	5986	SO:0001630	splice_region_variant	23316	exon3			GCCGAGGTAAGAC	AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249		"""Homeoboxes / CUT class"""	19347	protein-coding gene	gene with protein product		610648	"""cut-like 2 (Drosophila)"""	CUTL2			Standard	NM_015267		Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.222+1G>A	chr12.hg19:g.111655742G>A		113.0	0.0		90.0	4.0	NM_015267	A7E2Y4	Splice_Site	SNP	ENST00000261726.6	hg19	CCDS41837.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.198849	0.79015	.	.	ENSG00000111249	ENST00000261726;ENST00000397643;ENST00000552889	.	.	.	5.3	5.3	0.74995	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.0988	0.89499	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CUX2	110140125	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.285000	0.89914	2.636000	0.89361	0.655000	0.94253	.	.	.		0.562	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404765.1	NM_015267	Intron
CIT	11113	hgsc.bcm.edu	37	12	120214542	120214542	+	Silent	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr12:120214542T>C	ENST00000261833.7	-	14	1822	c.1770A>G	c.(1768-1770)agA>agG	p.R590R	CIT_ENST00000392521.2_Silent_p.R590R|CIT_ENST00000537607.1_5'UTR	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	590					cytokinesis (GO:0000910)|dendrite development (GO:0016358)|G2/M transition of mitotic cell cycle (GO:0000086)|generation of neurons (GO:0048699)|Golgi organization (GO:0007030)|intracellular signal transduction (GO:0035556)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of actin polymerization or depolymerization (GO:0008064)|spermatogenesis (GO:0007283)	actin cytoskeleton (GO:0015629)|Golgi cisterna (GO:0031985)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|vacuole (GO:0005773)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		GCCGAGACTCTCTCAGCTCAG	0.483																																					p.R590R		Atlas-SNP	.											.	CIT	535	.	0			c.A1770G						.						122.0	118.0	119.0					12																	120214542		2203	4300	6503	SO:0001819	synonymous_variant	11113	exon14			AGACTCTCTCAGC	AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966			1985	protein-coding gene	gene with protein product	"""serine/threonine kinase 21"""	605629	"""citron (rho-interacting, serine/threonine kinase 21)"""			9792683	Standard	NM_001206999		Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000261833.7:c.1770A>G	chr12.hg19:g.120214542T>C		108.0	0.0		69.0	4.0	NM_001206999	Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Silent	SNP	ENST00000261833.7	hg19	CCDS9192.1	.	.	.	.	.	.	.	.	.	.	T	10.97	1.502567	0.26949	.	.	ENSG00000122966	ENST00000392520	.	.	.	5.48	1.97	0.26223	.	.	.	.	.	T	0.57431	0.2053	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50617	-0.8807	4	.	.	.	.	8.8949	0.35458	0.0:0.2996:0.0:0.7004	.	.	.	.	G	218	.	.	E	-	2	0	CIT	118698925	0.823000	0.29233	1.000000	0.80357	0.989000	0.77384	-0.076000	0.11412	0.419000	0.25927	0.459000	0.35465	GAG	.	.		0.483	CIT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259410.4	NM_007174	
GCN1L1	10985	hgsc.bcm.edu	37	12	120582132	120582132	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr12:120582132A>G	ENST00000300648.6	-	42	5485	c.5473T>C	c.(5473-5475)Ttt>Ctt	p.F1825L		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1825					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AGGTCATCAAAGAGGCCTTGC	0.587																																					p.F1825L		Atlas-SNP	.											.	GCN1L1	207	.	0			c.T5473C						.						63.0	66.0	65.0					12																	120582132		2020	4184	6204	SO:0001583	missense	10985	exon42			CATCAAAGAGGCC	U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"""GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"""			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.5473T>C	chr12.hg19:g.120582132A>G	ENSP00000300648:p.Phe1825Leu	190.0	0.0		115.0	6.0	NM_006836	A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Missense_Mutation	SNP	ENST00000300648.6	hg19	CCDS41847.1	.	.	.	.	.	.	.	.	.	.	A	24.5	4.534285	0.85812	.	.	ENSG00000089154	ENST00000300648	T	0.64085	-0.08	6.16	6.16	0.99307	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.62768	0.2455	L	0.45352	1.415	0.80722	D	1	P	0.41475	0.751	P	0.45794	0.493	T	0.60326	-0.7285	10	0.34782	T	0.22	-17.3737	16.8061	0.85666	1.0:0.0:0.0:0.0	.	1825	Q92616	GCN1L_HUMAN	L	1825	ENSP00000300648:F1825L	ENSP00000300648:F1825L	F	-	1	0	GCN1L1	119066515	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.667000	0.91153	2.367000	0.80283	0.528000	0.53228	TTT	.	.		0.587	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1		
GCN1L1	10985	hgsc.bcm.edu	37	12	120591048	120591048	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr12:120591048A>G	ENST00000300648.6	-	33	4043	c.4031T>C	c.(4030-4032)cTc>cCc	p.L1344P	MIR4498_ENST00000577599.1_RNA	NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1344					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGCAGCGATGAGCTTGGCAAC	0.597																																					p.L1344P		Atlas-SNP	.											.	GCN1L1	207	.	0			c.T4031C						.						73.0	80.0	77.0					12																	120591048		2068	4187	6255	SO:0001583	missense	10985	exon33			GCGATGAGCTTGG	U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"""GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"""			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.4031T>C	chr12.hg19:g.120591048A>G	ENSP00000300648:p.Leu1344Pro	188.0	0.0		110.0	5.0	NM_006836	A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Missense_Mutation	SNP	ENST00000300648.6	hg19	CCDS41847.1	.	.	.	.	.	.	.	.	.	.	A	24.5	4.541144	0.85917	.	.	ENSG00000089154	ENST00000300648	T	0.74632	-0.86	5.7	5.7	0.88788	Armadillo-like helical (1);Armadillo-type fold (2);	0.000000	0.85682	D	0.000000	D	0.90345	0.6979	H	0.95294	3.65	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93147	0.6546	10	0.87932	D	0	-16.188	15.97	0.80008	1.0:0.0:0.0:0.0	.	1344	Q92616	GCN1L_HUMAN	P	1344	ENSP00000300648:L1344P	ENSP00000300648:L1344P	L	-	2	0	GCN1L1	119075431	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	8.997000	0.93544	2.189000	0.69895	0.459000	0.35465	CTC	.	.		0.597	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1		
SIRT4	23409	hgsc.bcm.edu	37	12	120741675	120741675	+	Missense_Mutation	SNP	G	G	T	rs201393186		TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr12:120741675G>T	ENST00000202967.4	+	2	370	c.311G>T	c.(310-312)cGg>cTg	p.R104L		NM_012240.2	NP_036372.1			sirtuin 4											haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)	9	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ATCCGCCAGCGGTACTGGGCG	0.572																																					p.R104L		Atlas-SNP	.											SIRT4,colon,carcinoma,0,1	SIRT4	29	.	0			c.G311T						.						53.0	46.0	48.0					12																	120741675		2203	4300	6503	SO:0001583	missense	23409	exon2			GCCAGCGGTACTG	AF083109	CCDS9194.1	12q24.31	2010-06-25	2010-06-25		ENSG00000089163	ENSG00000089163			14932	protein-coding gene	gene with protein product		604482	"""sirtuin (silent mating type information regulation 2, S. cerevisiae, homolog) 4"", ""sirtuin (silent mating type information regulation 2 homolog) 4 (S. cerevisiae)"""			10381378	Standard	NM_012240		Approved	SIR2L4	uc001tyc.3	Q9Y6E7	OTTHUMG00000169028	ENST00000202967.4:c.311G>T	chr12.hg19:g.120741675G>T	ENSP00000202967:p.Arg104Leu	109.0	0.0		51.0	3.0	NM_012240		Missense_Mutation	SNP	ENST00000202967.4	hg19	CCDS9194.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.359254	0.82353	.	.	ENSG00000089163	ENST00000536460;ENST00000202967	T;T	0.17054	2.3;2.3	5.39	2.58	0.30949	.	0.104417	0.64402	D	0.000007	T	0.36331	0.0963	M	0.72118	2.19	0.58432	D	0.999999	D	0.61080	0.989	D	0.67231	0.95	T	0.07501	-1.0769	10	0.87932	D	0	-21.6834	10.6708	0.45757	0.2078:0.0:0.7922:0.0	.	104	Q9Y6E7	SIRT4_HUMAN	L	45;104	ENSP00000444838:R45L;ENSP00000202967:R104L	ENSP00000202967:R104L	R	+	2	0	SIRT4	119226058	1.000000	0.71417	0.996000	0.52242	0.932000	0.56968	6.503000	0.73699	0.363000	0.24346	0.644000	0.83932	CGG	.	.		0.572	SIRT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402003.1	NM_012240	
ANAPC5	51433	hgsc.bcm.edu	37	12	121746389	121746389	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr12:121746389T>C	ENST00000261819.3	-	17	2283	c.2162A>G	c.(2161-2163)tAc>tGc	p.Y721C	ANAPC5_ENST00000535482.1_Missense_Mutation_p.Y387C|ANAPC5_ENST00000344395.4_Missense_Mutation_p.Y609C|ANAPC5_ENST00000441917.2_Missense_Mutation_p.Y609C|ANAPC5_ENST00000544314.1_5'UTR|ANAPC5_ENST00000541887.1_Missense_Mutation_p.Y708C	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN	anaphase promoting complex subunit 5	721					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)			breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CAGGGTATGGTAGAGTCTGGC	0.542																																					p.Y721C		Atlas-SNP	.											.	ANAPC5	60	.	0			c.A2162G						.						140.0	126.0	131.0					12																	121746389		2203	4300	6503	SO:0001583	missense	51433	exon17			GTATGGTAGAGTC	AF191339	CCDS9220.1, CCDS45000.1	12q24.31	2014-08-12			ENSG00000089053	ENSG00000089053		"""Anaphase promoting complex subunits"""	15713	protein-coding gene	gene with protein product		606948				9469815	Standard	NM_016237		Approved	APC5	uc001uag.3	Q9UJX4	OTTHUMG00000169157	ENST00000261819.3:c.2162A>G	chr12.hg19:g.121746389T>C	ENSP00000261819:p.Tyr721Cys	131.0	0.0		108.0	5.0	NM_016237	E9PFB2|Q8N4H7|Q9BQD4	Missense_Mutation	SNP	ENST00000261819.3	hg19	CCDS9220.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.956698	0.73902	.	.	ENSG00000089053	ENST00000441917;ENST00000541887;ENST00000261819;ENST00000535482;ENST00000544314;ENST00000344395	T;T;T;T;T	0.80214	-1.35;-1.35;-1.35;-1.35;-1.35	5.61	4.47	0.54385	Tetratricopeptide-like helical (1);	0.224065	0.47093	D	0.000251	D	0.83367	0.5239	L	0.53249	1.67	0.80722	D	1	D;D;D	0.69078	0.997;0.975;0.99	D;P;P	0.63192	0.912;0.498;0.707	T	0.82084	-0.0632	10	0.52906	T	0.07	.	6.5066	0.22198	0.1467:0.0772:0.0:0.7761	.	387;609;721	F5H0N1;E9PFB2;Q9UJX4	.;.;APC5_HUMAN	C	609;708;721;387;323;609	ENSP00000415061:Y609C;ENSP00000439875:Y708C;ENSP00000261819:Y721C;ENSP00000438754:Y387C;ENSP00000343787:Y609C	ENSP00000261819:Y721C	Y	-	2	0	ANAPC5	120230772	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.306000	0.59117	0.966000	0.38159	0.460000	0.39030	TAC	.	.		0.542	ANAPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402582.1		
KDM2B	84678	hgsc.bcm.edu	37	12	121868167	121868167	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr12:121868167T>C	ENST00000377071.4	-	23	4007	c.3935A>G	c.(3934-3936)gAg>gGg	p.E1312G	RNF34_ENST00000392464.2_Missense_Mutation_p.L465P|KDM2B_ENST00000377069.4_Missense_Mutation_p.E1243G|KDM2B_ENST00000536437.1_3'UTR|KDM2B_ENST00000542973.1_Missense_Mutation_p.E680G	NM_032590.4	NP_115979.3	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	1312					embryonic camera-type eye morphogenesis (GO:0048596)|forebrain development (GO:0030900)|fourth ventricle development (GO:0021592)|hindbrain development (GO:0030902)|histone demethylation (GO:0016577)|histone H2A monoubiquitination (GO:0035518)|initiation of neural tube closure (GO:0021993)|lateral ventricle development (GO:0021670)|midbrain development (GO:0030901)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|third ventricle development (GO:0021678)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K36 specific) (GO:0051864)|rRNA binding (GO:0019843)|zinc ion binding (GO:0008270)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						TATGAACTGCTCACAGCCTTC	0.443																																					p.E1312G		Atlas-SNP	.											.	KDM2B	218	.	0			c.A3935G						.						157.0	151.0	153.0					12																	121868167		1973	4164	6137	SO:0001583	missense	84678	exon23			AACTGCTCACAGC	AJ459424	CCDS41849.1, CCDS41850.1	12q24.31	2014-02-18	2009-04-06	2009-04-06	ENSG00000089094	ENSG00000089094		"""F-boxes / Leucine-rich repeats"", ""Chromatin-modifying enzymes / K-demethylases"""	13610	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1B"""	609078	"""F-box and leucine-rich repeat protein 10"""	FBXL10		10799292	Standard	NM_032590		Approved	PCCX2, CXXC2, Fbl10, JHDM1B	uc001uat.3	Q8NHM5	OTTHUMG00000169071	ENST00000377071.4:c.3935A>G	chr12.hg19:g.121868167T>C	ENSP00000366271:p.Glu1312Gly	149.0	0.0		102.0	5.0	NM_032590	A8MRS1|Q8NCI2|Q96HC7|Q96SL0|Q96T03|Q9NS96|Q9UF75	Missense_Mutation	SNP	ENST00000377071.4	hg19	CCDS41850.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	23.3|23.3	4.400707|4.400707	0.83120|0.83120	.|.	.|.	ENSG00000089094|ENSG00000170633	ENST00000397480;ENST00000542973;ENST00000377069;ENST00000377071;ENST00000540043|ENST00000392464	T;T;T|T	0.38560|0.39406	1.13;1.13;1.13|1.08	5.61|5.61	5.61|5.61	0.85477|0.85477	.|.	0.000000|.	0.52532|.	D|.	0.000061|.	T|T	0.58566|0.58566	0.2131|0.2131	M|M	0.70275|0.70275	2.135|2.135	0.80722|0.80722	D|D	1|1	P;P;D;P|.	0.67145|.	0.787;0.953;0.996;0.617|.	B;P;P;B|.	0.62740|.	0.379;0.631;0.906;0.153|.	T|T	0.58194|0.58194	-0.7679|-0.7679	10|6	0.46703|.	T|.	0.11|.	-28.6454|-28.6454	15.7959|15.7959	0.78409|0.78409	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	752;1312;1243;755|.	B7ZB05;Q8NHM5;A8MRS1;B4DSN4|.	.;KDM2B_HUMAN;.;.|.	G|P	1302;680;1243;1312;755|465	ENSP00000437821:E680G;ENSP00000366269:E1243G;ENSP00000366271:E1312G|ENSP00000376257:L465P	ENSP00000366269:E1243G|.	E|L	-|+	2|2	0|0	KDM2B|RNF34	120352550|120352550	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.991000|7.991000	0.88244|0.88244	2.134000|2.134000	0.65973|0.65973	0.533000|0.533000	0.62120|0.62120	GAG|CTC	.	.		0.443	KDM2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402132.2	NM_032590	
SETD1B	23067	hgsc.bcm.edu	37	12	122247600	122247600	+	Missense_Mutation	SNP	C	C	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr12:122247600C>A	ENST00000604567.1	+	6	817	c.749C>A	c.(748-750)aCa>aAa	p.T250K	SETD1B_ENST00000542440.1_Missense_Mutation_p.T250K|SETD1B_ENST00000267197.5_Missense_Mutation_p.T250K			Q9UPS6	SET1B_HUMAN	SET domain containing 1B	250					histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone-lysine N-methyltransferase activity (GO:0018024)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|endometrium(6)|kidney(2)|prostate(2)	11						AGCGGTGGGACACCCTTCTCC	0.632																																					p.T250K		Atlas-SNP	.											.	SETD1B	105	.	0			c.C749A						.						70.0	75.0	73.0					12																	122247600		692	1591	2283	SO:0001583	missense	23067	exon5			GTGGGACACCCTT	AB028999	CCDS53838.1	12q24.31	2013-02-12			ENSG00000139718	ENSG00000139718		"""Chromatin-modifying enzymes / K-methyltransferases"", ""RNA binding motif (RRM) containing"""	29187	protein-coding gene	gene with protein product		611055				10470851, 17355966	Standard	NM_015048		Approved	KIAA1076, Set1B, KMT2G	uc001ubi.3	Q9UPS6	OTTHUMG00000169080	ENST00000604567.1:c.749C>A	chr12.hg19:g.122247600C>A	ENSP00000474253:p.Thr250Lys	71.0	0.0		57.0	7.0	NM_015048	F6MFW1	Missense_Mutation	SNP	ENST00000604567.1	hg19		.	.	.	.	.	.	.	.	.	.	C	13.04	2.119409	0.37436	.	.	ENSG00000139718	ENST00000542440;ENST00000267197	D;D	0.98178	-4.77;-4.77	5.29	5.29	0.74685	.	.	.	.	.	D	0.98807	0.9598	M	0.71036	2.16	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.99896	1.1147	9	0.87932	D	0	.	18.958	0.92668	0.0:1.0:0.0:0.0	.	250	Q9UPS6	SET1B_HUMAN	K	250	ENSP00000442924:T250K;ENSP00000267197:T250K	ENSP00000267197:T250K	T	+	2	0	SETD1B	120731983	1.000000	0.71417	0.997000	0.53966	0.121000	0.20230	7.481000	0.81124	2.478000	0.83669	0.561000	0.74099	ACA	.	.		0.632	SETD1B-002	PUTATIVE	non_canonical_U12|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000468264.1	XM_037523	
ZNF664	144348	hgsc.bcm.edu	37	12	124497322	124497322	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr12:124497322A>G	ENST00000539644.1	+	6	2461	c.631A>G	c.(631-633)Agt>Ggt	p.S211G	ZNF664_ENST00000538932.2_Missense_Mutation_p.S211G|ZNF664_ENST00000337815.4_Missense_Mutation_p.S211G|ZNF664_ENST00000392404.3_Missense_Mutation_p.S211G|FAM101A_ENST00000545615.1_Intron			Q8N3J9	ZN664_HUMAN	zinc finger protein 664	211					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|large_intestine(5)|lung(6)|skin(1)	13	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.000239)|OV - Ovarian serous cystadenocarcinoma(86;0.000247)|all cancers(50;0.00155)|BRCA - Breast invasive adenocarcinoma(302;0.249)		CTTCAGTCAGAGTTCGAGCCT	0.522																																					p.S211G		Atlas-SNP	.											.	ZNF664	27	.	0			c.A631G						.						98.0	97.0	97.0					12																	124497322		2203	4300	6503	SO:0001583	missense	144348	exon5			AGTCAGAGTTCGA		CCDS9257.1	12q24.31	2013-05-10			ENSG00000179195	ENSG00000179195		"""Zinc fingers, C2H2-type"""	25406	protein-coding gene	gene with protein product			"""zinc finger protein 176"""	ZNF176		12477932	Standard	NM_001204298		Approved	ZFOC1, DKFZp761B128	uc001uga.3	Q8N3J9	OTTHUMG00000168596	ENST00000539644.1:c.631A>G	chr12.hg19:g.124497322A>G	ENSP00000441405:p.Ser211Gly	95.0	0.0		60.0	4.0	NM_152437	B3KP97|Q15914|Q3ZCQ7	Missense_Mutation	SNP	ENST00000539644.1	hg19	CCDS9257.1	.	.	.	.	.	.	.	.	.	.	A	13.18	2.159304	0.38119	.	.	ENSG00000179195	ENST00000539644;ENST00000392404;ENST00000538932;ENST00000337815;ENST00000535937	T;T;T;T	0.07688	3.17;3.17;3.17;3.17	4.25	4.25	0.50352	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.47852	D	0.000202	T	0.11067	0.0270	M	0.76328	2.33	0.27776	N	0.943303	B	0.33904	0.431	B	0.32289	0.143	T	0.10613	-1.0622	10	0.54805	T	0.06	-34.962	8.1013	0.30859	0.7949:0.2051:0.0:0.0	.	211	Q8N3J9	ZN664_HUMAN	G	211;211;211;211;149	ENSP00000441405:S211G;ENSP00000376205:S211G;ENSP00000440645:S211G;ENSP00000337320:S211G	ENSP00000337320:S211G	S	+	1	0	ZNF664	123063275	0.806000	0.28996	1.000000	0.80357	0.988000	0.76386	3.101000	0.50283	2.142000	0.66516	0.533000	0.62120	AGT	.	.		0.522	ZNF664-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400365.1	NM_152437	
TMEM132B	114795	hgsc.bcm.edu	37	12	126136985	126136985	+	Splice_Site	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr12:126136985A>G	ENST00000299308.3	+	8	1907		c.e8-1		TMEM132B_ENST00000535886.1_Splice_Site	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B							integral component of membrane (GO:0016021)				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		CTGACTTTTCAGGTCCTCTCG	0.567																																					.		Atlas-SNP	.											.	TMEM132B	207	.	0			c.1900-2A>G						.						18.0	19.0	19.0					12																	126136985		2073	4211	6284	SO:0001630	splice_region_variant	114795	exon8			CTTTTCAGGTCCT	AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.1900-1A>G	chr12.hg19:g.126136985A>G		97.0	0.0		69.0	4.0	NM_052907	A2RRG8|Q8NA73|Q96JN9|Q96PY1	Splice_Site	SNP	ENST00000299308.3	hg19	CCDS41859.1	.	.	.	.	.	.	.	.	.	.	A	13.19	2.161848	0.38217	.	.	ENSG00000139364	ENST00000299308;ENST00000535886	.	.	.	5.34	5.34	0.76211	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3203	0.74117	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TMEM132B	124702938	1.000000	0.71417	0.927000	0.36925	0.122000	0.20287	8.936000	0.92931	2.000000	0.58554	0.533000	0.62120	.	.	.		0.567	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1	NM_052907	Intron
TMEM132D	121256	hgsc.bcm.edu	37	12	130184852	130184852	+	Silent	SNP	G	G	A	rs139627769		TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr12:130184852G>A	ENST00000422113.2	-	2	797	c.471C>T	c.(469-471)gaC>gaT	p.D157D	RP11-174M13.2_ENST00000544036.1_lincRNA	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	157					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)		p.D157D(2)		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)		CGCTGCGGTCGTCCCAGTCTC	0.627													g|||	1	0.000199681	0.0	0.0	5008	,	,		14894	0.0		0.001	False		,,,				2504	0.0				p.D157D		Atlas-SNP	.											TMEM132D,NS,carcinoma,0,2	TMEM132D	299	.	2	Substitution - coding silent(2)	endometrium(2)	c.C471T						.	A		0,4406		0,0,2203	26.0	27.0	27.0		471	-4.8	0.0	12	dbSNP_134	27	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TMEM132D	NM_133448.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		157/1100	130184852	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	121256	exon2			GCGGTCGTCCCAG	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.471C>T	chr12.hg19:g.130184852G>A		124.0	0.0		108.0	5.0	NM_133448	Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Silent	SNP	ENST00000422113.2	hg19	CCDS9266.1																																																																																			.	G|1.000;A|0.000		0.627	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448	
P2RX2	22953	hgsc.bcm.edu	37	12	133197680	133197680	+	Missense_Mutation	SNP	C	C	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr12:133197680C>T	ENST00000389110.3	+	8	905	c.868C>T	c.(868-870)Ccc>Tcc	p.P290S	P2RX2_ENST00000350048.5_Missense_Mutation_p.P266S|P2RX2_ENST00000449132.2_Missense_Mutation_p.P256S|P2RX2_ENST00000343948.4_Missense_Mutation_p.P290S|P2RX2_ENST00000352418.4_Missense_Mutation_p.P218S|P2RX2_ENST00000348800.5_Missense_Mutation_p.P290S|P2RX2_ENST00000351222.4_Missense_Mutation_p.P198S	NM_170682.2|NM_170683.2|NM_174873.1	NP_733782.1|NP_733783.1|NP_777362.1	Q9UBL9	P2RX2_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 2	290					behavioral response to pain (GO:0048266)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|detection of hypoxic conditions in blood by carotid body chemoreceptor signaling (GO:0003029)|ion transmembrane transport (GO:0034220)|neuromuscular junction development (GO:0007528)|neuromuscular synaptic transmission (GO:0007274)|neuronal action potential (GO:0019228)|peristalsis (GO:0030432)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of calcium-mediated signaling (GO:0050850)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|response to ATP (GO:0033198)|response to carbohydrate (GO:0009743)|response to hypoxia (GO:0001666)|sensory perception of sound (GO:0007605)|sensory perception of taste (GO:0050909)|skeletal muscle fiber development (GO:0048741)|urinary bladder smooth muscle contraction (GO:0014832)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|dendritic spine (GO:0043197)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|cadmium ion binding (GO:0046870)|cobalt ion binding (GO:0050897)|copper ion binding (GO:0005507)|drug binding (GO:0008144)|extracellular ATP-gated cation channel activity (GO:0004931)|identical protein binding (GO:0042802)|ligand-gated ion channel activity (GO:0015276)|mercury ion binding (GO:0045340)|nickel cation binding (GO:0016151)|phosphatidylinositol binding (GO:0035091)|purinergic nucleotide receptor activity (GO:0001614)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(8)|ovary(1)|prostate(3)	20	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0767)		OV - Ovarian serous cystadenocarcinoma(86;2.32e-08)|Epithelial(86;8.62e-08)|all cancers(50;4.5e-06)		GAGGCTTGACCCCAAGCACGT	0.602																																					p.P290S		Atlas-SNP	.											.	P2RX2	49	.	0			c.C868T						.						112.0	90.0	97.0					12																	133197680		2203	4300	6503	SO:0001583	missense	22953	exon8			CTTGACCCCAAGC	AF109387	CCDS31930.1, CCDS31931.1, CCDS31932.1, CCDS31933.1, CCDS31934.1, CCDS31935.1, CCDS61286.1, CCDS73548.1	12q24.33	2013-03-22			ENSG00000187848	ENSG00000187848		"""Purinergic receptors"", ""Ligand-gated ion channels / Purinergic receptors, ionotropic"""	15459	protein-coding gene	gene with protein product		600844	"""deafness, autosomal dominant 41"""	DFNA41		10570044, 7523952, 23345450	Standard	XM_005266154		Approved	P2X2	uc001ukk.1	Q9UBL9	OTTHUMG00000168018	ENST00000389110.3:c.868C>T	chr12.hg19:g.133197680C>T	ENSP00000373762:p.Pro290Ser	94.0	0.0		80.0	4.0	NM_170683	A6NGB4|A6NH93|A6NHC2|A6NHU3|A6NIG9|Q6V9R6|Q9NR37|Q9NR38|Q9UHD5|Q9UHD6|Q9UHD7|Q9Y637|Q9Y638	Missense_Mutation	SNP	ENST00000389110.3	hg19	CCDS31931.1	.	.	.	.	.	.	.	.	.	.	C	14.45	2.540520	0.45176	.	.	ENSG00000187848	ENST00000389110;ENST00000449132;ENST00000343948;ENST00000352418;ENST00000350048;ENST00000351222;ENST00000348800	T;T;T;T;T;T;T	0.03772	3.81;3.81;3.81;3.81;3.81;3.81;3.81	4.96	4.96	0.65561	.	0.247526	0.35805	N	0.002971	T	0.09555	0.0235	L	0.28014	0.82	0.36111	D	0.844809	D;P;D;D;P;D;D;D	0.63880	0.984;0.754;0.991;0.98;0.849;0.984;0.993;0.98	P;B;P;P;P;P;P;P	0.61940	0.794;0.395;0.894;0.791;0.48;0.833;0.896;0.69	T	0.43589	-0.9382	10	0.11794	T	0.64	-30.6685	16.1502	0.81611	0.0:1.0:0.0:0.0	.	290;256;198;218;266;290;290;290	Q32MC3;Q9UBL9-7;Q9UBL9-5;Q9UBL9-6;Q9UBL9-3;Q9UBL9-4;Q9UBL9;Q9UBL9-2	.;.;.;.;.;.;P2RX2_HUMAN;.	S	290;256;290;218;266;198;290	ENSP00000373762:P290S;ENSP00000405531:P256S;ENSP00000343339:P290S;ENSP00000341419:P218S;ENSP00000343904:P266S;ENSP00000344502:P198S;ENSP00000345095:P290S	ENSP00000343339:P290S	P	+	1	0	P2RX2	131707753	0.952000	0.32445	1.000000	0.80357	0.777000	0.43975	0.742000	0.26216	2.584000	0.87258	0.561000	0.74099	CCC	.	.		0.602	P2RX2-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397542.1		
GJB6	10804	hgsc.bcm.edu	37	13	20797362	20797362	+	Silent	SNP	G	G	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr13:20797362G>T	ENST00000356192.6	-	5	878	c.258C>A	c.(256-258)acC>acA	p.T86T	GJB6_ENST00000400065.3_Silent_p.T86T|GJB6_ENST00000400066.3_Silent_p.T86T|GJB6_ENST00000241124.6_Silent_p.T86T	NM_001110219.2	NP_001103689.1	O95452	CXB6_HUMAN	gap junction protein, beta 6, 30kDa	86					apoptotic process (GO:0006915)|cell communication (GO:0007154)|ear morphogenesis (GO:0042471)|inner ear development (GO:0048839)|negative regulation of cell proliferation (GO:0008285)|sensory perception of sound (GO:0007605)	apical plasma membrane (GO:0016324)|connexon complex (GO:0005922)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)				biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)	9		all_cancers(29;2.04e-22)|all_epithelial(30;1.19e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;2.17e-05)|Epithelial(112;0.00075)|OV - Ovarian serous cystadenocarcinoma(117;0.00978)|Lung(94;0.0238)|GBM - Glioblastoma multiforme(144;0.0323)|LUSC - Lung squamous cell carcinoma(192;0.0744)		GCAGCGCTGGGGTGGAGACGA	0.552																																					p.T86T		Atlas-SNP	.											.	GJB6	33	.	0			c.C258A						.						56.0	48.0	51.0					13																	20797362		2203	4300	6503	SO:0001819	synonymous_variant	10804	exon4			CGCTGGGGTGGAG	AJ005585	CCDS9291.1	13q12	2010-01-06	2007-11-06		ENSG00000121742	ENSG00000121742		"""Ion channels / Gap junction proteins (connexins)"""	4288	protein-coding gene	gene with protein product	"""connexin 30"""	604418	"""ectodermal dysplasia 2, hidrotic (Clouston syndrome)"", ""gap junction protein, beta 6 (connexin 30)"", ""gap junction protein, beta 6"""	DFNA3, ED2		10471490, 8845850	Standard	NM_006783		Approved	EDH, HED, CX30	uc001und.4	O95452	OTTHUMG00000016515	ENST00000356192.6:c.258C>A	chr13.hg19:g.20797362G>T		91.0	0.0		49.0	9.0	NM_001110220	B3KQN2|Q5Q1H9|Q5Q1I0|Q5Q1I1|Q5T5U0|Q8IUP0	Silent	SNP	ENST00000356192.6	hg19	CCDS9291.1																																																																																			.	.		0.552	GJB6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272906.1		
XPO4	64328	hgsc.bcm.edu	37	13	21442736	21442736	+	Splice_Site	SNP	C	C	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr13:21442736C>T	ENST00000255305.6	-	2	245	c.174G>A	c.(172-174)ttG>ttA	p.L58L	XPO4_ENST00000490513.1_5'UTR|XPO4_ENST00000400602.2_Splice_Site_p.L58L			Q9C0E2	XPO4_HUMAN	exportin 4	58					positive regulation of protein export from nucleus (GO:0046827)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.L31L(1)		breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		AATACTTACCCAAAATATGCT	0.318																																					p.L58L		Atlas-SNP	.											XPO4_ENST00000255305,NS,carcinoma,0,2	XPO4	153	.	1	Substitution - coding silent(1)	lung(1)	c.G174A						.						118.0	108.0	111.0					13																	21442736		1831	4084	5915	SO:0001630	splice_region_variant	64328	exon2			CTTACCCAAAATA	AB051508	CCDS41872.1	13q11	2011-04-13			ENSG00000132953	ENSG00000132953		"""Exportins"""	17796	protein-coding gene	gene with protein product		611449				11214970, 10944119	Standard	NM_022459		Approved	FLJ13046, KIAA1721	uc001unq.4	Q9C0E2	OTTHUMG00000016528	ENST00000255305.6:c.175+1G>A	chr13.hg19:g.21442736C>T		146.0	0.0		100.0	4.0	NM_022459	Q5VUZ5|Q8N3V6|Q9H934	Silent	SNP	ENST00000255305.6	hg19	CCDS41872.1																																																																																			.	.		0.318	XPO4-001	KNOWN	non_canonical_conserved|non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044096.1	NM_022459	Silent
SPATA13	221178	hgsc.bcm.edu	37	13	24797715	24797715	+	Intron	SNP	T	T	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr13:24797715T>A	ENST00000382095.4	+	2	185				SPATA13_ENST00000424834.2_Missense_Mutation_p.D216E|RP11-307N16.6_ENST00000382141.4_Missense_Mutation_p.D216E|SPATA13_ENST00000382108.3_Missense_Mutation_p.D216E	NM_153023.2	NP_694568.1	Q96N96	SPT13_HUMAN	spermatogenesis associated 13						cell migration (GO:0016477)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell migration (GO:0030334)	cytoplasm (GO:0005737)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)		GCCTGCTGGATGCGCCCCAGA	0.652																																					p.D216E		Atlas-SNP	.											.	SPATA13	92	.	0			c.T648A						.						26.0	28.0	27.0					13																	24797715		692	1591	2283	SO:0001627	intron_variant	221178	exon2			GCTGGATGCGCCC	AK055770	CCDS9305.1, CCDS53857.1, CCDS66517.1, CCDS66518.1, CCDS73553.1	13q12.13	2013-01-10			ENSG00000182957	ENSG00000182957		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	23222	protein-coding gene	gene with protein product		613324					Standard	NM_001286795		Approved	FLJ31208, ARHGEF29	uc021rhg.1	Q96N96	OTTHUMG00000016578	ENST00000382095.4:c.-222-25900T>A	chr13.hg19:g.24797715T>A		49.0	0.0		35.0	4.0	NM_001166271	A2VEA9|A6NF85|B4DQB1|B4DSZ0|B4DVM8|J3KPJ7|J3KQH2|Q5VX68|Q6ZML1|Q8N873|Q8TEK6	Missense_Mutation	SNP	ENST00000382095.4	hg19	CCDS9305.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.65|16.65	3.182552|3.182552	0.57800|0.57800	.|.	.|.	ENSG00000182957|ENSG00000182957	ENST00000424834|ENST00000382108	.|D	.|0.86769	.|-2.17	3.49|3.49	-4.2|-4.2	0.03823|0.03823	.|.	.|0.000000	.|0.39544	.|U	.|0.001328	T|T	0.80059|0.80059	0.4554|0.4554	L|L	0.34521|0.34521	1.04|1.04	0.50039|0.50039	D|D	0.999849|0.999849	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.69401|0.69401	-0.5155|-0.5155	5|8	.|0.72032	.|D	.|0.01	.|.	5.5622|5.5622	0.17150|0.17150	0.0:0.4095:0.1369:0.4536|0.0:0.4095:0.1369:0.4536	.|.	.|.	.|.	.|.	S|E	254|216	.|ENSP00000371542:D216E	.|ENSP00000371542:D216E	C|D	+|+	1|3	0|2	SPATA13|SPATA13	23695715|23695715	0.328000|0.328000	0.24687|0.24687	0.000000|0.000000	0.03702|0.03702	0.096000|0.096000	0.18686|0.18686	-0.294000|-0.294000	0.08309|0.08309	-1.532000|-1.532000	0.01747|0.01747	-0.645000|-0.645000	0.03944|0.03944	TGC|GAT	.	.		0.652	SPATA13-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044180.2	NM_153023	
SPATA13	221178	hgsc.bcm.edu	37	13	24798393	24798393	+	Intron	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr13:24798393A>G	ENST00000382095.4	+	2	185				SPATA13_ENST00000474317.1_3'UTR|SPATA13_ENST00000424834.2_Silent_p.K442K|RP11-307N16.6_ENST00000382141.4_Silent_p.K442K|SPATA13_ENST00000382108.3_Silent_p.K442K	NM_153023.2	NP_694568.1	Q96N96	SPT13_HUMAN	spermatogenesis associated 13						cell migration (GO:0016477)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell migration (GO:0030334)	cytoplasm (GO:0005737)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)		TGTTGAGCAAAGACTCCTGTG	0.557																																					p.K442K		Atlas-SNP	.											.	SPATA13	92	.	0			c.A1326G						.						52.0	58.0	56.0					13																	24798393		692	1591	2283	SO:0001627	intron_variant	221178	exon2			GAGCAAAGACTCC	AK055770	CCDS9305.1, CCDS53857.1, CCDS66517.1, CCDS66518.1, CCDS73553.1	13q12.13	2013-01-10			ENSG00000182957	ENSG00000182957		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	23222	protein-coding gene	gene with protein product		613324					Standard	NM_001286795		Approved	FLJ31208, ARHGEF29	uc021rhg.1	Q96N96	OTTHUMG00000016578	ENST00000382095.4:c.-222-25222A>G	chr13.hg19:g.24798393A>G		181.0	0.0		96.0	4.0	NM_001166271	A2VEA9|A6NF85|B4DQB1|B4DSZ0|B4DVM8|J3KPJ7|J3KQH2|Q5VX68|Q6ZML1|Q8N873|Q8TEK6	Silent	SNP	ENST00000382095.4	hg19	CCDS9305.1	.	.	.	.	.	.	.	.	.	.	A	5.476	0.272879	0.10349	.	.	ENSG00000182957	ENST00000424834	.	.	.	4.96	-2.0	0.07433	.	.	.	.	.	T	0.29256	0.0728	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	T	0.31166	-0.9953	4	.	.	.	.	7.2172	0.25967	0.4256:0.0:0.4519:0.1225	.	.	.	.	G	480	.	.	R	+	1	2	SPATA13	23696393	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.318000	0.08050	-0.635000	0.05531	-0.361000	0.07541	AGA	.	.		0.557	SPATA13-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044180.2	NM_153023	
RNF17	56163	hgsc.bcm.edu	37	13	25442834	25442834	+	Missense_Mutation	SNP	C	C	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr13:25442834C>T	ENST00000255324.5	+	31	4310	c.4258C>T	c.(4258-4260)Cac>Tac	p.H1420Y	RNF17_ENST00000339524.3_Missense_Mutation_p.H430Y|RNF17_ENST00000381921.1_Missense_Mutation_p.H1378Y	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	1420					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		TCAAGTTAAGCACGTTGTCTC	0.388																																					p.H1420Y		Atlas-SNP	.											.	RNF17	259	.	0			c.C4258T						.						178.0	162.0	168.0					13																	25442834		2203	4300	6503	SO:0001583	missense	56163	exon31			GTTAAGCACGTTG	AF285602, AK001907	CCDS9308.2	13q12.13	2013-01-23			ENSG00000132972	ENSG00000132972		"""RING-type (C3HC4) zinc fingers"", ""Tudor domain containing"""	10060	protein-coding gene	gene with protein product	"""spermatogenesis associated 23"""	605793	"""tudor domain containing 4"""	TDRD4		11279525	Standard	NM_001184993		Approved	Mmip-2, SPATA23, FLJ11045	uc001upr.3	Q9BXT8	OTTHUMG00000016589	ENST00000255324.5:c.4258C>T	chr13.hg19:g.25442834C>T	ENSP00000255324:p.His1420Tyr	185.0	0.0		125.0	5.0	NM_031277	Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Missense_Mutation	SNP	ENST00000255324.5	hg19	CCDS9308.2	.	.	.	.	.	.	.	.	.	.	C	16.46	3.130255	0.56721	.	.	ENSG00000132972	ENST00000255324;ENST00000381921;ENST00000418120;ENST00000339524	T;T;T;T	0.26223	3.11;2.67;1.87;1.75	5.93	5.93	0.95920	.	0.072543	0.53938	D	0.000042	T	0.41743	0.1172	L	0.46947	1.48	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.998;0.999;0.997;1.0	T	0.07927	-1.0747	10	0.02654	T	1	-11.9309	19.1254	0.93380	0.0:1.0:0.0:0.0	.	1416;430;1414;1420	B7Z7S1;Q5T6R1;Q9BXT8-5;Q9BXT8	.;.;.;RNF17_HUMAN	Y	1420;1378;744;430	ENSP00000255324:H1420Y;ENSP00000371346:H1378Y;ENSP00000388892:H744Y;ENSP00000344776:H430Y	ENSP00000255324:H1420Y	H	+	1	0	RNF17	24340834	1.000000	0.71417	0.722000	0.30670	0.065000	0.16274	5.495000	0.66912	2.826000	0.97356	0.655000	0.94253	CAC	.	.		0.388	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044217.1	NM_031994	
ATP8A2	51761	hgsc.bcm.edu	37	13	26273338	26273338	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr13:26273338T>C	ENST00000381655.2	+	25	2381	c.2239T>C	c.(2239-2241)Tgc>Cgc	p.C747R	ATP8A2_ENST00000255283.8_Missense_Mutation_p.C707R|ATP8A2_ENST00000491840.1_3'UTR	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	707					aging (GO:0007568)|axonogenesis (GO:0007409)|detection of light stimulus involved in visual perception (GO:0050908)|eating behavior (GO:0042755)|inner ear morphogenesis (GO:0042472)|involuntary skeletal muscle contraction (GO:0003011)|negative regulation of cell proliferation (GO:0008285)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling posture (GO:0050884)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phospholipid translocation (GO:0061092)|response to auditory stimulus (GO:0010996)|retina layer formation (GO:0010842)|skin development (GO:0043588)	cell projection (GO:0042995)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.C747S(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		TACTCAGCACTGCACTGACCT	0.453																																					p.C747R		Atlas-SNP	.											ATP8A2,bladder,carcinoma,0,1	ATP8A2	181	.	1	Substitution - Missense(1)	urinary_tract(1)	c.T2239C						.						83.0	78.0	80.0					13																	26273338		1964	4136	6100	SO:0001583	missense	51761	exon25			CAGCACTGCACTG	AL137256	CCDS41873.1	13q12	2010-04-20	2010-03-31		ENSG00000132932	ENSG00000132932	3.6.3.1	"""ATPases / P-type"""	13533	protein-coding gene	gene with protein product		605870	"""ATPase, aminophospholipid transporter-like, Class I, type 8A, member 2"", ""ATPase, aminophospholipid transporter-like, class I, type 8A, member 2"""			11015572, 19778899	Standard	NM_016529		Approved	ATPIB, ML-1	uc001uqk.3	Q9NTI2	OTTHUMG00000016611	ENST00000381655.2:c.2239T>C	chr13.hg19:g.26273338T>C	ENSP00000371070:p.Cys747Arg	98.0	0.0		43.0	2.0	NM_016529	Q9H527|Q9NPU6|Q9NTL2|Q9NYM3	Missense_Mutation	SNP	ENST00000381655.2	hg19	CCDS41873.1	.	.	.	.	.	.	.	.	.	.	T	15.29	2.790683	0.50102	.	.	ENSG00000132932	ENST00000381655;ENST00000255283;ENST00000544544	T;T	0.63096	0.41;-0.02	5.88	5.88	0.94601	HAD-like domain (1);	0.000000	0.85682	D	0.000000	T	0.57651	0.2068	L	0.38733	1.17	0.80722	D	1	B;B;B	0.25206	0.12;0.049;0.12	B;B;B	0.31245	0.126;0.082;0.126	T	0.56251	-0.8010	10	0.52906	T	0.07	.	16.2824	0.82697	0.0:0.0:0.0:1.0	.	707;527;707	B7Z880;F5GZN5;Q9NTI2	.;.;AT8A2_HUMAN	R	747;707;527	ENSP00000371070:C747R;ENSP00000255283:C707R	ENSP00000255283:C707R	C	+	1	0	ATP8A2	25171338	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	8.035000	0.88872	2.250000	0.74265	0.533000	0.62120	TGC	.	.		0.453	ATP8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044236.2	NM_016529	
USPL1	10208	hgsc.bcm.edu	37	13	31232538	31232538	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr13:31232538T>C	ENST00000255304.4	+	9	2666	c.2324T>C	c.(2323-2325)gTt>gCt	p.V775A		NM_005800.4	NP_005791.3	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	775					Cajal body organization (GO:0030576)|cell proliferation (GO:0008283)|protein desumoylation (GO:0016926)	Cajal body (GO:0015030)|extracellular space (GO:0005615)	SUMO binding (GO:0032183)|SUMO-specific isopeptidase activity (GO:0070140)			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		CCACTCTGTGTTTCAGCTCAT	0.368																																					p.V775A	Ovarian(60;318 1180 1554 28110 31601)	Atlas-SNP	.											.	USPL1	82	.	0			c.T2324C						.						82.0	88.0	86.0					13																	31232538		2203	4300	6503	SO:0001583	missense	10208	exon9			TCTGTGTTTCAGC	X59131	CCDS9336.1	13q12-q14	2012-11-14	2005-11-24	2005-11-24	ENSG00000132952	ENSG00000132952			20294	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 22"""	C13orf22		22878415	Standard	NM_005800		Approved	bA121O19.1, D13S106E	uc001utc.2	Q5W0Q7	OTTHUMG00000016675	ENST00000255304.4:c.2324T>C	chr13.hg19:g.31232538T>C	ENSP00000255304:p.Val775Ala	123.0	0.0		83.0	5.0	NM_005800	Q14109|Q6AI45|Q8IY30|Q8IYE8	Missense_Mutation	SNP	ENST00000255304.4	hg19	CCDS9336.1	.	.	.	.	.	.	.	.	.	.	T	2.735	-0.263449	0.05754	.	.	ENSG00000132952	ENST00000255304	T	0.16073	2.37	5.76	4.62	0.57501	.	0.212421	0.39615	N	0.001313	T	0.11196	0.0273	L	0.38838	1.175	0.29185	N	0.876263	B	0.30563	0.285	B	0.35470	0.203	T	0.24154	-1.0168	10	0.06099	T	0.92	-24.8906	5.3667	0.16117	0.0:0.1944:0.0:0.8056	.	775	Q5W0Q7	USPL1_HUMAN	A	775	ENSP00000255304:V775A	ENSP00000255304:V775A	V	+	2	0	USPL1	30130538	1.000000	0.71417	0.995000	0.50966	0.424000	0.31475	2.390000	0.44416	2.201000	0.70794	0.533000	0.62120	GTT	.	.		0.368	USPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044369.1	NM_005800	
STARD13	90627	hgsc.bcm.edu	37	13	33700281	33700281	+	Silent	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr13:33700281T>C	ENST00000336934.5	-	7	2135	c.2019A>G	c.(2017-2019)ggA>ggG	p.G673G	STARD13_ENST00000399365.3_Silent_p.G555G|STARD13_ENST00000255486.4_Silent_p.G665G	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	673	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		GCAGGGGCTGTCCCGTTCTTT	0.537																																					p.G673G		Atlas-SNP	.											.	STARD13	100	.	0			c.A2019G						.						174.0	148.0	157.0					13																	33700281		2203	4300	6503	SO:0001819	synonymous_variant	90627	exon7			GGGCTGTCCCGTT	AL049801	CCDS9348.1, CCDS9349.1, CCDS9350.1	13q13.1	2013-08-13	2007-08-16		ENSG00000133121	ENSG00000133121		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	19164	protein-coding gene	gene with protein product		609866	"""START domain containing 13"", ""long intergenic non-protein coding RNA 464"""	LINC00464		8812419	Standard	NM_178006		Approved	GT650, DLC2, ARHGAP37	uc001uuw.3	Q9Y3M8	OTTHUMG00000016708	ENST00000336934.5:c.2019A>G	chr13.hg19:g.33700281T>C		182.0	0.0		96.0	5.0	NM_178006	A2A309|A2A310|Q5HYH1|Q5TAE3|Q6UN61|Q86TP6|Q86WQ3|Q86XT1	Silent	SNP	ENST00000336934.5	hg19	CCDS9348.1																																																																																			.	.		0.537	STARD13-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276118.2	NM_001243466	
NBEA	26960	hgsc.bcm.edu	37	13	36046571	36046571	+	Silent	SNP	C	C	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr13:36046571C>A	ENST00000400445.3	+	41	7017	c.6483C>A	c.(6481-6483)atC>atA	p.I2161I	NBEA_ENST00000540320.1_Silent_p.I2161I|NBEA_ENST00000379939.2_Silent_p.I2158I|NBEA_ENST00000310336.4_Silent_p.I2161I	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	2161					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		CCCAGCTCATCGCTCCCGTGG	0.587																																					p.I2161I		Atlas-SNP	.											NBEA,lower_third,carcinoma,0,1	NBEA	340	.	0			c.C6483A						.						64.0	67.0	66.0					13																	36046571		1985	4166	6151	SO:0001819	synonymous_variant	26960	exon41			GCTCATCGCTCCC	AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.6483C>A	chr13.hg19:g.36046571C>A		51.0	0.0		40.0	2.0	NM_015678	B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Silent	SNP	ENST00000400445.3	hg19	CCDS45026.1																																																																																			.	.		0.587	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678	
DGKH	160851	hgsc.bcm.edu	37	13	42793388	42793388	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr13:42793388A>G	ENST00000337343.4	+	27	3257	c.3236A>G	c.(3235-3237)gAg>gGg	p.E1079G	DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000538674.1_Missense_Mutation_p.E834G|DGKH_ENST00000261491.5_Missense_Mutation_p.E1079G|DGKH_ENST00000379274.2_Missense_Mutation_p.E943G|DGKH_ENST00000536612.1_Missense_Mutation_p.E943G|DGKH_ENST00000540693.1_Missense_Mutation_p.E1079G	NM_178009.3	NP_821077.1	Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta	1079					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein oligomerization (GO:0051259)	cytoplasm (GO:0005737)|endosome (GO:0005768)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		CCACATGAAGAGCGAGTATCC	0.408																																					p.E1079G		Atlas-SNP	.											.	DGKH	106	.	0			c.A3236G						.						167.0	175.0	172.0					13																	42793388		2203	4300	6503	SO:0001583	missense	160851	exon28			ATGAAGAGCGAGT	AB078967	CCDS9381.1, CCDS9382.1, CCDS55898.1	13q13.3	2013-01-10			ENSG00000102780	ENSG00000102780		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	2854	protein-coding gene	gene with protein product		604071				8702685	Standard	XM_005266271		Approved	DGKeta	uc001uyl.2	Q86XP1	OTTHUMG00000016804	ENST00000337343.4:c.3236A>G	chr13.hg19:g.42793388A>G	ENSP00000337572:p.Glu1079Gly	130.0	0.0		80.0	4.0	NM_001204504	A2A2W7|A6NFX7|B4DZ34|Q5VZW0|Q6PI56|Q86XP2|Q8N3N0|Q8N7J9	Missense_Mutation	SNP	ENST00000337343.4	hg19	CCDS9381.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.172514	0.78452	.	.	ENSG00000102780	ENST00000540693;ENST00000337343;ENST00000261491;ENST00000379274;ENST00000536612;ENST00000538674	D;T;D;D;D;T	0.82619	-1.63;-1.38;-1.63;-1.54;-1.54;1.6	5.29	5.29	0.74685	.	0.101059	0.64402	D	0.000003	T	0.81819	0.4903	M	0.69185	2.1	0.54753	D	0.999987	B;B;B;P	0.37233	0.317;0.317;0.046;0.588	B;B;B;B	0.35607	0.177;0.086;0.087;0.206	D	0.83560	0.0106	10	0.59425	D	0.04	.	15.223	0.73327	1.0:0.0:0.0:0.0	.	834;943;1079;1079	F5GYP2;Q86XP1-3;Q86XP1-2;Q86XP1	.;.;.;DGKH_HUMAN	G	1079;1079;1079;943;943;834	ENSP00000440823:E1079G;ENSP00000337572:E1079G;ENSP00000261491:E1079G;ENSP00000368576:E943G;ENSP00000445114:E943G;ENSP00000441308:E834G	ENSP00000261491:E1079G	E	+	2	0	DGKH	41691388	1.000000	0.71417	1.000000	0.80357	0.727000	0.41649	8.614000	0.90917	1.986000	0.57962	0.528000	0.53228	GAG	.	.		0.408	DGKH-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044699.2	NM_178009	
AKAP11	11215	hgsc.bcm.edu	37	13	42891711	42891711	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr13:42891711G>T	ENST00000025301.2	+	12	5627	c.5452G>T	c.(5452-5454)Gag>Tag	p.E1818*		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	1818					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein kinase A binding (GO:0051018)|protein phosphatase 1 binding (GO:0008157)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		TATTGACATGGAGCCATGCAC	0.373																																					p.E1818X		Atlas-SNP	.											.	AKAP11	146	.	0			c.G5452T						.						131.0	119.0	123.0					13																	42891711		2203	4300	6503	SO:0001587	stop_gained	11215	exon12			GACATGGAGCCAT	AB014529	CCDS9383.1	13q	2012-04-17			ENSG00000023516	ENSG00000023516		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	369	protein-coding gene	gene with protein product	"""AKAP 220"", ""A-kinase anchoring protein, 220kDa"", ""protein kinase A anchoring protein 11"", ""protein phosphatase 1, regulatory subunit 44"""	604696				9734811, 8621616	Standard	NM_016248		Approved	KIAA0629, AKAP220, PRKA11, FLJ11304, DKFZp781I12161, PPP1R44	uc001uys.2	Q9UKA4	OTTHUMG00000016805	ENST00000025301.2:c.5452G>T	chr13.hg19:g.42891711G>T	ENSP00000025301:p.Glu1818*	153.0	0.0		85.0	4.0	NM_016248	O75124|Q9NUK7	Nonsense_Mutation	SNP	ENST00000025301.2	hg19	CCDS9383.1	.	.	.	.	.	.	.	.	.	.	G	46	12.221437	0.99647	.	.	ENSG00000023516	ENST00000025301	.	.	.	5.79	4.77	0.60923	.	0.456574	0.21608	N	0.071827	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	15.7494	0.77972	0.076:0.0:0.924:0.0	.	.	.	.	X	1818	.	ENSP00000025301:E1818X	E	+	1	0	AKAP11	41789711	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.404000	0.52623	2.725000	0.93324	0.557000	0.71058	GAG	.	.		0.373	AKAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044700.2	NM_016248	
GPALPP1	55425	hgsc.bcm.edu	37	13	45589705	45589705	+	Missense_Mutation	SNP	C	C	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr13:45589705C>T	ENST00000379151.4	+	6	782	c.679C>T	c.(679-681)Cca>Tca	p.P227S	RP11-321C24.1_ENST00000437748.2_lincRNA|GPALPP1_ENST00000361121.2_Missense_Mutation_p.P227S|GPALPP1_ENST00000357537.3_Missense_Mutation_p.P57S	NM_018559.2	NP_061029.2	Q8IXQ4	GPAM1_HUMAN	GPALPP motifs containing 1	227																	GACAGATACTCCAGCTGATAG	0.393																																					p.P227S		Atlas-SNP	.											.	KIAA1704	36	.	0			c.C679T						.						103.0	98.0	100.0					13																	45589705		2203	4300	6503	SO:0001583	missense	55425	exon6			GATACTCCAGCTG	AB051491	CCDS9394.1	13q14.12	2013-08-13	2013-08-12	2013-08-12	ENSG00000133114	ENSG00000133114			20298	protein-coding gene	gene with protein product			"""KIAA1704"""	KIAA1704		11214970	Standard	NM_018559		Approved	bA245H20.2, AD029, LSR7	uc001uzq.3	Q8IXQ4	OTTHUMG00000016841	ENST00000379151.4:c.679C>T	chr13.hg19:g.45589705C>T	ENSP00000368447:p.Pro227Ser	136.0	0.0		98.0	4.0	NM_018559	A8K8X8|Q05BX8|Q05D87|Q5T3Z3|Q5T3Z5|Q9C0F9|Q9H2R0|Q9P0W6	Missense_Mutation	SNP	ENST00000379151.4	hg19	CCDS9394.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.901295	0.92035	.	.	ENSG00000133114	ENST00000379151;ENST00000361121;ENST00000357537	.	.	.	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	D	0.84889	0.5572	M	0.87180	2.865	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.86599	0.1865	9	0.72032	D	0.01	1.6417	18.9896	0.92786	0.0:1.0:0.0:0.0	.	78;227	Q8IXQ4-2;Q8IXQ4	.;K1704_HUMAN	S	227;227;57	.	ENSP00000350145:P57S	P	+	1	0	KIAA1704	44487705	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	7.192000	0.77771	2.793000	0.96121	0.655000	0.94253	CCA	.	.		0.393	GPALPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044749.2	NM_018559	
FAM124A	220108	hgsc.bcm.edu	37	13	51825706	51825706	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr13:51825706T>C	ENST00000322475.8	+	3	338	c.203T>C	c.(202-204)gTc>gCc	p.V68A	FAM124A_ENST00000280057.6_Missense_Mutation_p.V104A	NM_001242312.1	NP_001229241.1	Q86V42	F124A_HUMAN	family with sequence similarity 124A	68										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|skin(1)	26		Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;4.25e-07)		ATCGACAACGTCCTGGCGTGG	0.687																																					p.V104A		Atlas-SNP	.											.	FAM124A	61	.	0			c.T311C						.						26.0	23.0	24.0					13																	51825706		2203	4300	6503	SO:0001583	missense	220108	exon4			ACAACGTCCTGGC	AK096364	CCDS9427.1, CCDS55900.1	13q14.3	2006-08-11			ENSG00000150510	ENSG00000150510			26413	protein-coding gene	gene with protein product						12975309	Standard	NM_145019		Approved	FLJ30707	uc001vff.2	Q86V42	OTTHUMG00000016942	ENST00000322475.8:c.203T>C	chr13.hg19:g.51825706T>C	ENSP00000324625:p.Val68Ala	124.0	0.0		84.0	4.0	NM_145019	A2A324|Q8N8P9|Q8NE66|Q96NJ9	Missense_Mutation	SNP	ENST00000322475.8	hg19	CCDS55900.1	.	.	.	.	.	.	.	.	.	.	T	29.3	4.997865	0.93227	.	.	ENSG00000150510	ENST00000322475;ENST00000280057	T;T	0.47869	0.83;0.83	5.79	5.79	0.91817	.	0.149802	0.45126	D	0.000390	T	0.62551	0.2437	L	0.59436	1.845	0.45087	D	0.998101	D;D;P	0.63880	0.993;0.993;0.571	P;P;B	0.60789	0.826;0.879;0.288	T	0.65450	-0.6165	10	0.72032	D	0.01	-21.3215	15.3036	0.73976	0.0:0.0:0.0:1.0	.	68;104;68	Q86V42;Q86V42-2;Q86V42-3	F124A_HUMAN;.;.	A	68;104	ENSP00000324625:V68A;ENSP00000280057:V104A	ENSP00000280057:V104A	V	+	2	0	FAM124A	50723707	1.000000	0.71417	0.936000	0.37596	0.981000	0.71138	7.466000	0.80914	2.208000	0.71279	0.533000	0.62120	GTC	.	.		0.687	FAM124A-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045019.3	NM_145019	
PCDH17	27253	hgsc.bcm.edu	37	13	58209048	58209048	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr13:58209048T>C	ENST00000377918.3	+	1	2394	c.2368T>C	c.(2368-2370)Tcc>Ccc	p.S790P		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	790					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)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		GAGCAGCCCCTCCCTGGCCAC	0.572																																					p.S790P	Melanoma(72;952 1291 1619 12849 33676)	Atlas-SNP	.											.	PCDH17	304	.	0			c.T2368C						.						88.0	83.0	85.0					13																	58209048		2203	4300	6503	SO:0001583	missense	27253	exon1			AGCCCCTCCCTGG	AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"""Cadherins / Protocadherins : Non-clustered"""	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.2368T>C	chr13.hg19:g.58209048T>C	ENSP00000367151:p.Ser790Pro	108.0	0.0		67.0	7.0	NM_001040429	A8K1R5|Q5VVW9|Q5VVX0	Missense_Mutation	SNP	ENST00000377918.3	hg19	CCDS31986.1	.	.	.	.	.	.	.	.	.	.	T	17.81	3.480352	0.63849	.	.	ENSG00000118946	ENST00000377918	T	0.55052	0.54	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.66208	0.2766	L	0.52573	1.65	0.58432	D	0.999999	D;D	0.71674	0.992;0.998	D;D	0.69142	0.962;0.942	T	0.64841	-0.6312	9	.	.	.	.	15.8379	0.78814	0.0:0.0:0.0:1.0	.	790;790	O14917-2;O14917	.;PCD17_HUMAN	P	790	ENSP00000367151:S790P	.	S	+	1	0	PCDH17	57107049	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.698000	0.84413	2.141000	0.66446	0.383000	0.25322	TCC	.	.		0.572	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	NM_001040429	
MYCBP2	23077	hgsc.bcm.edu	37	13	77672359	77672359	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr13:77672359T>C	ENST00000544440.2	-	56	8833	c.8816A>G	c.(8815-8817)aAa>aGa	p.K2939R	MYCBP2_ENST00000407578.2_Missense_Mutation_p.K2977R|MYCBP2_ENST00000482517.1_5'UTR|MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2_ENST00000360084.5_Missense_Mutation_p.K462R|MYCBP2_ENST00000357337.6_Missense_Mutation_p.K2939R					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CTGTTCATCTTTCAGTGGTGC	0.378																																					p.K2977R		Atlas-SNP	.											.	MYCBP2	1029	.	0			c.A8930G						.						148.0	143.0	145.0					13																	77672359		2203	4300	6503	SO:0001583	missense	23077	exon56			TCATCTTTCAGTG	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.8816A>G	chr13.hg19:g.77672359T>C	ENSP00000444596:p.Lys2939Arg	188.0	0.0		96.0	4.0	NM_015057		Missense_Mutation	SNP	ENST00000544440.2	hg19		.	.	.	.	.	.	.	.	.	.	T	9.716	1.158446	0.21454	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440;ENST00000360084	T;T;T;T	0.53640	1.47;1.46;1.47;0.61	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.37999	0.1024	L	0.41710	1.295	0.49213	D	0.999762	B;B;B	0.14805	0.011;0.0;0.001	B;B;B	0.17722	0.019;0.001;0.001	T	0.18618	-1.0331	10	0.26408	T	0.33	.	10.8639	0.46842	0.0:0.0733:0.0:0.9267	.	325;2939;2939	Q9UG08;O75592-2;O75592	.;.;MYCB2_HUMAN	R	2939;2977;2939;462	ENSP00000349892:K2939R;ENSP00000384288:K2977R;ENSP00000444596:K2939R;ENSP00000353197:K462R	ENSP00000349892:K2939R	K	-	2	0	MYCBP2	76570360	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.968000	0.70413	2.117000	0.64856	0.477000	0.44152	AAA	.	.		0.378	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057	
SPRY2	10253	hgsc.bcm.edu	37	13	80911489	80911489	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr13:80911489A>G	ENST00000377102.1	-	2	1329	c.352T>C	c.(352-354)Tcg>Ccg	p.S118P	SPRY2_ENST00000540649.1_Missense_Mutation_p.S118P|SPRY2_ENST00000377104.3_Missense_Mutation_p.S118P			O43597	SPY2_HUMAN	sprouty homolog 2 (Drosophila)	118					bud elongation involved in lung branching (GO:0060449)|cell fate commitment (GO:0045165)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment of mitotic spindle orientation (GO:0000132)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inner ear morphogenesis (GO:0042472)|lung growth (GO:0060437)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of neurotrophin TRK receptor signaling pathway (GO:0051387)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of Ras GTPase activity (GO:0034261)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|sensory perception of sound (GO:0007605)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase inhibitor activity (GO:0030291)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	12	Medulloblastoma(90;0.18)	Acute lymphoblastic leukemia(28;0.218)|Breast(118;0.244)		GBM - Glioblastoma multiforme(99;0.0318)		CTGCTCCGCGACCCTGAGCTG	0.592																																					p.S118P		Atlas-SNP	.											.	SPRY2	28	.	0			c.T352C						.						102.0	94.0	97.0					13																	80911489		2203	4300	6503	SO:0001583	missense	10253	exon2			TCCGCGACCCTGA	AF039843	CCDS9463.1	13q31.1	2008-05-14	2001-11-28		ENSG00000136158	ENSG00000136158			11270	protein-coding gene	gene with protein product		602466	"""sprouty (Drosophila) homolog 2"""			9458049	Standard	NM_005842		Approved	hSPRY2	uc001vlj.3	O43597	OTTHUMG00000017140	ENST00000377102.1:c.352T>C	chr13.hg19:g.80911489A>G	ENSP00000366306:p.Ser118Pro	103.0	0.0		71.0	4.0	NM_005842	B2R9J9|Q5T6Z7	Missense_Mutation	SNP	ENST00000377102.1	hg19	CCDS9463.1	.	.	.	.	.	.	.	.	.	.	A	12.74	2.029843	0.35797	.	.	ENSG00000136158	ENST00000377104;ENST00000377102;ENST00000541655;ENST00000540649	T;T;T	0.57907	0.37;0.37;0.37	4.89	4.89	0.63831	.	0.292074	0.33477	N	0.004872	T	0.55832	0.1945	M	0.78456	2.415	0.39573	D	0.969314	B	0.09022	0.002	B	0.06405	0.002	T	0.60449	-0.7261	10	0.72032	D	0.01	.	14.5419	0.68002	1.0:0.0:0.0:0.0	.	118	O43597	SPY2_HUMAN	P	118	ENSP00000366308:S118P;ENSP00000366306:S118P;ENSP00000439027:S118P	ENSP00000366306:S118P	S	-	1	0	SPRY2	79809490	1.000000	0.71417	0.968000	0.41197	0.992000	0.81027	5.770000	0.68873	1.849000	0.53698	0.459000	0.35465	TCG	.	.		0.592	SPRY2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045387.1		
GPC6	10082	hgsc.bcm.edu	37	13	94482742	94482742	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr13:94482742A>G	ENST00000377047.4	+	3	1270	c.655A>G	c.(655-657)Agg>Ggg	p.R219G	GPC6-AS2_ENST00000445540.1_RNA	NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN	glypican 6	219					carbohydrate metabolic process (GO:0005975)|cell migration (GO:0016477)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				CATTGCTGCCAGGACCTTTGT	0.493																																					p.R219G		Atlas-SNP	.											.	GPC6	102	.	0			c.A655G						.						50.0	48.0	49.0					13																	94482742		2203	4300	6503	SO:0001583	missense	10082	exon3			GCTGCCAGGACCT	AF111178	CCDS9469.1	13q32	2008-02-05			ENSG00000183098	ENSG00000183098		"""Proteoglycans / Cell Surface : Glypicans"""	4454	protein-coding gene	gene with protein product	"""glypican proteoglycan 6"""	604404				10329016	Standard	NM_005708		Approved		uc001vlt.3	Q9Y625	OTTHUMG00000017205	ENST00000377047.4:c.655A>G	chr13.hg19:g.94482742A>G	ENSP00000366246:p.Arg219Gly	175.0	0.0		92.0	4.0	NM_005708	A8K279|Q96SG5|Q96SG8|Q9H1P4	Missense_Mutation	SNP	ENST00000377047.4	hg19	CCDS9469.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.044259	0.75732	.	.	ENSG00000183098	ENST00000377047	T	0.61980	0.06	5.49	3.71	0.42584	.	0.000000	0.85682	D	0.000000	D	0.83644	0.5299	M	0.93550	3.43	0.47949	D	0.999558	D;D	0.89917	0.988;1.0	D;D	0.87578	0.954;0.998	D	0.87786	0.2615	10	0.87932	D	0	.	14.9491	0.71057	0.2644:0.7356:0.0:0.0	.	219;219	B4E2M1;Q9Y625	.;GPC6_HUMAN	G	219	ENSP00000366246:R219G	ENSP00000366246:R219G	R	+	1	2	GPC6	93280743	0.877000	0.30153	0.167000	0.22817	0.928000	0.56348	1.738000	0.38207	0.784000	0.33661	-0.178000	0.13098	AGG	.	.		0.493	GPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045460.4	NM_005708	
UGGT2	55757	hgsc.bcm.edu	37	13	96530059	96530059	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr13:96530059C>A	ENST00000376747.3	-	28	3350	c.3280G>T	c.(3280-3282)Gga>Tga	p.G1094*		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	1094					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-glucosylation (GO:0097359)	endoplasmic reticulum lumen (GO:0005788)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						AAGCATTGTCCTTCCAGTAGT	0.393																																					p.G1094X		Atlas-SNP	.											.	UGGT2	127	.	0			c.G3280T						.						161.0	155.0	157.0					13																	96530059		2203	4300	6503	SO:0001587	stop_gained	55757	exon28			ATTGTCCTTCCAG	AF227906	CCDS9480.1	13q32.1	2009-07-23	2009-07-23	2009-07-23	ENSG00000102595	ENSG00000102595			15664	protein-coding gene	gene with protein product	"""UDP-glucose:glycoprotein glucosyltransferase 2"""	605898	"""UDP-glucose ceramide glucosyltransferase-like 2"""	UGCGL2		10694380	Standard	NM_020121		Approved	FLJ11485, HUGT2, FLJ10873, MGC150689, MGC87276, MGC117360	uc001vmt.3	Q9NYU1	OTTHUMG00000017230	ENST00000376747.3:c.3280G>T	chr13.hg19:g.96530059C>A	ENSP00000365938:p.Gly1094*	82.0	0.0		62.0	4.0	NM_020121	A6NKL4|Q08AD0|Q5JQR8|Q8N5K0|Q9UFC4	Nonsense_Mutation	SNP	ENST00000376747.3	hg19	CCDS9480.1	.	.	.	.	.	.	.	.	.	.	C	39	7.494992	0.98319	.	.	ENSG00000102595	ENST00000376747	.	.	.	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-18.3445	18.6161	0.91303	0.0:1.0:0.0:0.0	.	.	.	.	X	1094	.	ENSP00000365938:G1094X	G	-	1	0	UGGT2	95328060	1.000000	0.71417	1.000000	0.80357	0.087000	0.18053	7.084000	0.76866	2.387000	0.81309	0.467000	0.42956	GGA	.	.		0.393	UGGT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045507.1	NM_020121	
OR4K13	390433	hgsc.bcm.edu	37	14	20502875	20502875	+	Silent	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr14:20502875A>G	ENST00000315693.2	-	1	44	c.43T>C	c.(43-45)Ttg>Ctg	p.L15L	AL359218.1_ENST00000580563.1_RNA	NM_001004714.1	NP_001004714.1	Q8NH42	OR4KD_HUMAN	olfactory receptor, family 4, subfamily K, member 13	15						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		GAAAGTCCCAACAAAATAAAT	0.383																																					p.L15L		Atlas-SNP	.											OR4K13,NS,carcinoma,0,1	OR4K13	68	.	0			c.T43C						.						53.0	55.0	54.0					14																	20502875		2200	4299	6499	SO:0001819	synonymous_variant	390433	exon1			GTCCCAACAAAAT		CCDS32028.1	14q11.2	2013-09-23			ENSG00000176253	ENSG00000176253		"""GPCR / Class A : Olfactory receptors"""	15351	protein-coding gene	gene with protein product							Standard	NM_001004714		Approved		uc010tkz.2	Q8NH42	OTTHUMG00000170781	ENST00000315693.2:c.43T>C	chr14.hg19:g.20502875A>G		139.0	0.0		98.0	4.0	NM_001004714	Q6IF13	Silent	SNP	ENST00000315693.2	hg19	CCDS32028.1																																																																																			.	.		0.383	OR4K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410344.1		
OR10G2	26534	hgsc.bcm.edu	37	14	22102803	22102803	+	Missense_Mutation	SNP	T	T	C	rs370971403		TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr14:22102803T>C	ENST00000542433.1	-	1	293	c.196A>G	c.(196-198)Att>Gtt	p.I66V		NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G, member 2	66						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		CCCAGAAGAATGTACATGGGG	0.517																																					p.I66V		Atlas-SNP	.											.	OR10G2	35	.	0			c.A196G						.						60.0	60.0	60.0					14																	22102803		2203	4300	6503	SO:0001583	missense	26534	exon1			GAAGAATGTACAT		CCDS32047.1	14q11.2	2013-09-24			ENSG00000255582	ENSG00000255582		"""GPCR / Class A : Olfactory receptors"""	8170	protein-coding gene	gene with protein product						8188290	Standard	NM_001005466		Approved		uc010tmc.2	Q8NGC3	OTTHUMG00000168890	ENST00000542433.1:c.196A>G	chr14.hg19:g.22102803T>C	ENSP00000445383:p.Ile66Val	447.0	0.0		290.0	71.0	NM_001005466	B2RPD0	Missense_Mutation	SNP	ENST00000542433.1	hg19	CCDS32047.1	.	.	.	.	.	.	.	.	.	.	T	10.06	1.247993	0.22880	.	.	ENSG00000255582	ENST00000542433	T	0.00463	7.25	3.79	2.6	0.31112	GPCR, rhodopsin-like superfamily (1);	0.156674	0.28549	N	0.014944	T	0.00328	0.0010	L	0.35414	1.06	0.23903	N	0.996517	B	0.12013	0.005	B	0.06405	0.002	T	0.49184	-0.8966	10	0.87932	D	0	-2.1043	4.4135	0.11445	0.1987:0.0:0.2057:0.5955	.	66	Q8NGC3	O10G2_HUMAN	V	66	ENSP00000445383:I66V	ENSP00000445383:I66V	I	-	1	0	OR10G2	21172643	0.967000	0.33354	0.998000	0.56505	0.956000	0.61745	0.488000	0.22371	0.482000	0.27582	0.460000	0.39030	ATT	.	.		0.517	OR10G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401525.1		
ACIN1	22985	hgsc.bcm.edu	37	14	23540644	23540644	+	Intron	SNP	C	C	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr14:23540644C>A	ENST00000262710.1	-	9	2625				ACIN1_ENST00000397341.3_5'UTR|ACIN1_ENST00000555352.1_Intron|ACIN1_ENST00000555053.1_Intron|ACIN1_ENST00000457657.1_Intron|ACIN1_ENST00000338631.6_Silent_p.R36R|ACIN1_ENST00000605057.1_Intron|ACIN1_ENST00000557515.1_5'UTR|ACIN1_ENST00000357481.2_5'UTR	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1						apoptotic chromosome condensation (GO:0030263)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|erythrocyte differentiation (GO:0030218)|mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|positive regulation of monocyte differentiation (GO:0045657)|RNA splicing (GO:0008380)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		ACGGCAAACCCCGAGTTCGGC	0.547																																					p.R36R		Atlas-SNP	.											.	ACIN1	147	.	0			c.G108T						.						48.0	47.0	47.0					14																	23540644		692	1591	2283	SO:0001627	intron_variant	22985	exon1			CAAACCCCGAGTT	AB014570	CCDS9587.1, CCDS53887.1, CCDS53888.1, CCDS53889.1, CCDS55905.1	14q11.2	2008-11-25	2004-03-31	2004-04-01	ENSG00000100813	ENSG00000100813			17066	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 152"""	604562	"""apoptotic chromatin condensation inducer in the nucleus"""	ACINUS		9734811, 10490026	Standard	NM_014977		Approved	KIAA0670, fSAP152	uc001wit.4	Q9UKV3	OTTHUMG00000028716	ENST00000262710.1:c.2298-1818G>T	chr14.hg19:g.23540644C>A		138.0	0.0		78.0	4.0	NM_001164816	B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	Silent	SNP	ENST00000262710.1	hg19	CCDS9587.1																																																																																			.	.		0.547	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071707.3	NM_014977	
AP1G2	8906	hgsc.bcm.edu	37	14	24035857	24035857	+	Silent	SNP	T	T	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr14:24035857T>A	ENST00000308724.5	-	2	998	c.243A>T	c.(241-243)acA>acT	p.T81T	RP11-66N24.3_ENST00000555968.1_RNA|AP1G2_ENST00000556277.1_5'UTR|AP1G2_ENST00000397120.3_Silent_p.T81T	NM_003917.2	NP_003908.1	O75843	AP1G2_HUMAN	adaptor-related protein complex 1, gamma 2 subunit	81					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	AP-1 adaptor complex (GO:0030121)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi-associated vesicle (GO:0005798)|membrane (GO:0016020)|transport vesicle (GO:0030133)	protein transporter activity (GO:0008565)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		CCCTCTTGTCTGTGAATCTGG	0.542																																					p.T81T		Atlas-SNP	.											.	AP1G2	75	.	0			c.A243T						.						156.0	145.0	149.0					14																	24035857		2203	4300	6503	SO:0001819	synonymous_variant	8906	exon3			CTTGTCTGTGAAT	AB015318	CCDS9602.1	14q11.2	2008-07-03			ENSG00000213983	ENSG00000213983			556	protein-coding gene	gene with protein product		603534				9733768, 9762922	Standard	XM_005268167		Approved	G2AD	uc001wkl.2	O75843	OTTHUMG00000028760	ENST00000308724.5:c.243A>T	chr14.hg19:g.24035857T>A		97.0	0.0		77.0	4.0	NM_003917	D3DS51|O75504	Silent	SNP	ENST00000308724.5	hg19	CCDS9602.1																																																																																			.	.		0.542	AP1G2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071812.4	NM_003917	
RNF31	55072	hgsc.bcm.edu	37	14	24617329	24617329	+	Missense_Mutation	SNP	C	C	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr14:24617329C>A	ENST00000324103.6	+	2	657	c.337C>A	c.(337-339)Cag>Aag	p.Q113K	RNF31_ENST00000557878.1_3'UTR|PSME2_ENST00000560410.1_5'Flank|PSME2_ENST00000471700.2_5'Flank|RNF31_ENST00000382687.3_5'Flank|RNF31_ENST00000559275.1_5'UTR|PSME2_ENST00000216802.5_5'Flank	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN	ring finger protein 31	113	Polyubiquitin-binding.				CD40 signaling pathway (GO:0023035)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein linear polyubiquitination (GO:0097039)|protein polyubiquitination (GO:0000209)|T cell receptor signaling pathway (GO:0050852)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|LUBAC complex (GO:0071797)	ligase activity (GO:0016874)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		GGATGCTGTGCAGGTGAATCC	0.582																																					p.Q113K		Atlas-SNP	.											.	RNF31	95	.	0			c.C337A						.						92.0	93.0	92.0					14																	24617329		2015	4182	6197	SO:0001583	missense	55072	exon2			GCTGTGCAGGTGA	AK000973	CCDS41931.1	14q11.2	2012-09-20			ENSG00000092098	ENSG00000092098		"""RING-type (C3HC4) zinc fingers"""	16031	protein-coding gene	gene with protein product	"""HOIL-1-interacting protein"""	612487				10422847	Standard	NM_017999		Approved	ZIBRA, FLJ10111, FLJ23501, HOIP	uc001wmn.1	Q96EP0	OTTHUMG00000028798	ENST00000324103.6:c.337C>A	chr14.hg19:g.24617329C>A	ENSP00000315112:p.Gln113Lys	82.0	0.0		83.0	5.0	NM_017999	A0A962|Q86VI2|Q8TEI0|Q96GB4|Q96NF1|Q9H5F1|Q9NWD2	Missense_Mutation	SNP	ENST00000324103.6	hg19	CCDS41931.1	.	.	.	.	.	.	.	.	.	.	C	16.11	3.030337	0.54790	.	.	ENSG00000092098	ENST00000324103	T	0.41400	1.0	5.31	5.31	0.75309	PUB domain (1);	0.137675	0.49305	D	0.000147	T	0.36880	0.0983	N	0.12746	0.255	0.80722	D	1	P	0.52463	0.953	P	0.54174	0.744	T	0.07751	-1.0756	9	.	.	.	-20.8993	13.6085	0.62061	0.0:0.8442:0.1558:0.0	.	113	Q96EP0	RNF31_HUMAN	K	113	ENSP00000315112:Q113K	.	Q	+	1	0	RNF31	23687169	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	2.959000	0.49153	2.779000	0.95612	0.655000	0.94253	CAG	.	.		0.582	RNF31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071921.3	NM_017999	
ADCY4	196883	hgsc.bcm.edu	37	14	24791372	24791372	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr14:24791372T>C	ENST00000310677.4	-	21	2599	c.2486A>G	c.(2485-2487)gAg>gGg	p.E829G	ADCY4_ENST00000418030.2_Missense_Mutation_p.E829G|ADCY4_ENST00000554068.2_Missense_Mutation_p.E829G	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	829					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		CTCTGTCTCCTCCCTCTCCTG	0.617																																					p.E829G		Atlas-SNP	.											.	ADCY4	86	.	0			c.A2486G						.						115.0	102.0	106.0					14																	24791372		2203	4300	6503	SO:0001583	missense	196883	exon21			GTCTCCTCCCTCT	AF497516	CCDS9627.1	14q11.2	2013-02-04			ENSG00000129467	ENSG00000129467	4.6.1.1	"""Adenylate cyclases"""	235	protein-coding gene	gene with protein product		600292				7766992	Standard	NM_001198592		Approved	AC4	uc001woy.3	Q8NFM4	OTTHUMG00000029347	ENST00000310677.4:c.2486A>G	chr14.hg19:g.24791372T>C	ENSP00000312126:p.Glu829Gly	115.0	0.0		93.0	5.0	NM_001198592	B3KV74|D3DS75|Q17R40|Q6ZTM6|Q96ML7	Missense_Mutation	SNP	ENST00000310677.4	hg19	CCDS9627.1	.	.	.	.	.	.	.	.	.	.	T	24.2	4.501330	0.85176	.	.	ENSG00000129467	ENST00000310677;ENST00000554068;ENST00000418030	T;T;T	0.80480	-1.38;-1.38;-1.38	5.16	4.0	0.46444	.	0.000000	0.50627	D	0.000111	D	0.82342	0.5016	M	0.90870	3.155	0.80722	D	1	B	0.30211	0.273	B	0.26969	0.075	T	0.81621	-0.0850	10	0.72032	D	0.01	.	9.6287	0.39765	0.1562:0.0:0.0:0.8438	.	829	Q8NFM4	ADCY4_HUMAN	G	829	ENSP00000312126:E829G;ENSP00000452250:E829G;ENSP00000393177:E829G	ENSP00000312126:E829G	E	-	2	0	ADCY4	23861212	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	6.088000	0.71371	0.964000	0.38108	0.533000	0.62120	GAG	.	.		0.617	ADCY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073200.4		
NYNRIN	57523	hgsc.bcm.edu	37	14	24868547	24868547	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr14:24868547A>G	ENST00000382554.3	+	2	413	c.95A>G	c.(94-96)cAg>cGg	p.Q32R		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	32					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						CTGCAAGTGCAGCGCATCTTT	0.632																																					p.Q32R		Atlas-SNP	.											.	NYNRIN	120	.	0			c.A95G						.						31.0	41.0	38.0					14																	24868547		1965	4144	6109	SO:0001583	missense	57523	exon2			AAGTGCAGCGCAT	AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"""Cousin of GIN1"""		"""KIAA1305"""	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.95A>G	chr14.hg19:g.24868547A>G	ENSP00000371994:p.Gln32Arg	137.0	0.0		105.0	6.0	NM_025081	Q6P153|Q86TR3|Q9HAC4	Missense_Mutation	SNP	ENST00000382554.3	hg19	CCDS45090.1	.	.	.	.	.	.	.	.	.	.	A	19.97	3.924383	0.73213	.	.	ENSG00000205978	ENST00000382554	T	0.11169	2.8	4.46	4.46	0.54185	.	0.560572	0.13040	U	0.418623	T	0.08179	0.0204	N	0.24115	0.695	0.25307	N	0.98923	B	0.33694	0.421	B	0.27608	0.081	T	0.21177	-1.0253	10	0.87932	D	0	.	11.7195	0.51675	1.0:0.0:0.0:0.0	.	32	Q9P2P1	NYNRI_HUMAN	R	32	ENSP00000371994:Q32R	ENSP00000371994:Q32R	Q	+	2	0	NYNRIN	23938387	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.745000	0.62125	1.864000	0.54056	0.402000	0.26972	CAG	.	.		0.632	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1		
FOXG1	2290	hgsc.bcm.edu	37	14	29237531	29237531	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr14:29237531C>A	ENST00000313071.4	+	1	1245	c.1046C>A	c.(1045-1047)tCg>tAg	p.S349*	FOXG1_ENST00000382535.3_Nonsense_Mutation_p.S349*	NM_005249.4	NP_005240.3	P55316	FOXG1_HUMAN	forkhead box G1	349					aging (GO:0007568)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|dorsal/ventral pattern formation (GO:0009953)|inner ear morphogenesis (GO:0042472)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron fate determination (GO:0048664)|positive regulation of cell cycle (GO:0045787)|positive regulation of neuroblast proliferation (GO:0002052)|pyramidal neuron migration (GO:0021852)|regulation of mitotic cell cycle (GO:0007346)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		ACTCAGAACTCGCTGGGCAAC	0.662																																					p.S349X		Atlas-SNP	.											FOXG1,NS,carcinoma,0,1	FOXG1	92	.	0			c.C1046A						.						101.0	93.0	96.0					14																	29237531		2203	4300	6503	SO:0001587	stop_gained	2290	exon1			AGAACTCGCTGGG		CCDS9636.1	14q11-q13	2007-10-05	2007-05-16	2007-05-16	ENSG00000176165	ENSG00000176165		"""Forkhead boxes"""	3811	protein-coding gene	gene with protein product		164874	"""forkhead box G1B"", ""forkhead box G1C"", ""forkhead box G1A"""	FKHL2, FOXG1B, FKHL4, FKH2, FKHL1, FOXG1C, FKHL3, FOXG1A		7959731, 17260156	Standard	NM_005249		Approved	HFK2, QIN, BF1, HFK1, HFK3, HBF-3	uc001wqe.4	P55316	OTTHUMG00000140187	ENST00000313071.4:c.1046C>A	chr14.hg19:g.29237531C>A	ENSP00000339004:p.Ser349*	98.0	0.0		67.0	3.0	NM_005249	A6NFY2|P55315|Q14488|Q86XT7	Nonsense_Mutation	SNP	ENST00000313071.4	hg19	CCDS9636.1	.	.	.	.	.	.	.	.	.	.	C	38	7.195950	0.98129	.	.	ENSG00000176165	ENST00000382535;ENST00000313071	.	.	.	4.21	4.21	0.49690	.	0.802151	0.10077	U	0.718940	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.5401	0.61668	0.1563:0.8437:0.0:0.0	.	.	.	.	X	349	.	ENSP00000339004:S349X	S	+	2	0	FOXG1	28307282	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.128000	0.57951	2.042000	0.60477	0.491000	0.48974	TCG	.	.		0.662	FOXG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276559.3		
AKAP6	9472	hgsc.bcm.edu	37	14	33014622	33014622	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr14:33014622T>C	ENST00000280979.4	+	4	933	c.763T>C	c.(763-765)Tct>Cct	p.S255P	AKAP6_ENST00000557272.1_Missense_Mutation_p.S255P|AKAP6_ENST00000557354.1_Missense_Mutation_p.S255P	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	255					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)		ACCCTTTGACTCTTGGAGCTA	0.463																																					p.S255P	Melanoma(49;821 1200 7288 13647 42351)	Atlas-SNP	.											.	AKAP6	308	.	0			c.T763C						.						149.0	126.0	134.0					14																	33014622		2203	4300	6503	SO:0001583	missense	9472	exon4			TTTGACTCTTGGA	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.763T>C	chr14.hg19:g.33014622T>C	ENSP00000280979:p.Ser255Pro	173.0	0.0		100.0	4.0	NM_004274	A7E242|A7E2D4|O15028	Missense_Mutation	SNP	ENST00000280979.4	hg19	CCDS9644.1	.	.	.	.	.	.	.	.	.	.	T	17.65	3.441316	0.63067	.	.	ENSG00000151320	ENST00000280979;ENST00000557354;ENST00000557272;ENST00000553547;ENST00000554410;ENST00000556638	T;T;T;T	0.35789	3.09;1.84;1.84;1.29	5.91	5.91	0.95273	.	0.072118	0.64402	D	0.000014	T	0.56187	0.1968	M	0.62723	1.935	0.40613	D	0.981696	D;D	0.76494	0.999;0.999	D;D	0.75484	0.941;0.986	T	0.60732	-0.7205	10	0.87932	D	0	-9.6006	12.2242	0.54451	0.0:0.0:0.1419:0.8581	.	255;255	A7E242;Q13023	.;AKAP6_HUMAN	P	255;255;255;13;13;13	ENSP00000280979:S255P;ENSP00000450531:S255P;ENSP00000451247:S255P;ENSP00000451239:S13P	ENSP00000280979:S255P	S	+	1	0	AKAP6	32084373	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.878000	0.39608	2.269000	0.75478	0.533000	0.62120	TCT	.	.		0.463	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274	
AKAP6	9472	hgsc.bcm.edu	37	14	33201661	33201661	+	Splice_Site	SNP	G	G	T	rs541213739		TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr14:33201661G>T	ENST00000280979.4	+	10	3172	c.3002G>T	c.(3001-3003)cGa>cTa	p.R1001L	AKAP6_ENST00000557272.1_Splice_Site_p.R1001L|AKAP6_ENST00000557354.1_Splice_Site_p.R1001L	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1001					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)		TCATTTTAGCGATACAGTGTG	0.373																																					p.R1001L	Melanoma(49;821 1200 7288 13647 42351)	Atlas-SNP	.											.	AKAP6	308	.	0			c.G3002T						.						97.0	99.0	98.0					14																	33201661		2203	4299	6502	SO:0001630	splice_region_variant	9472	exon10			TTTAGCGATACAG	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.3001-1G>T	chr14.hg19:g.33201661G>T		89.0	0.0		83.0	4.0	NM_004274	A7E242|A7E2D4|O15028	Missense_Mutation	SNP	ENST00000280979.4	hg19	CCDS9644.1	.	.	.	.	.	.	.	.	.	.	G	16.01	3.000231	0.54147	.	.	ENSG00000151320	ENST00000280979;ENST00000557354;ENST00000557272	T;T;T	0.18960	3.45;2.18;2.2	5.49	4.6	0.57074	.	0.100021	0.39909	N	0.001225	T	0.11707	0.0285	N	0.14661	0.345	0.39303	D	0.964943	P;P	0.44090	0.678;0.826	B;B	0.35039	0.194;0.194	T	0.10154	-1.0642	10	0.52906	T	0.07	-6.442	13.7021	0.62616	0.0742:0.0:0.9258:0.0	.	1001;1001	A7E242;Q13023	.;AKAP6_HUMAN	L	1001	ENSP00000280979:R1001L;ENSP00000450531:R1001L;ENSP00000451247:R1001L	ENSP00000280979:R1001L	R	+	2	0	AKAP6	32271412	1.000000	0.71417	0.987000	0.45799	0.731000	0.41821	6.092000	0.71414	2.565000	0.86533	0.585000	0.79938	CGA	.	.		0.373	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274	Missense_Mutation
LRFN5	145581	hgsc.bcm.edu	37	14	42356737	42356737	+	Silent	SNP	G	G	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr14:42356737G>A	ENST00000298119.4	+	3	2098	c.909G>A	c.(907-909)agG>agA	p.R303R	LRFN5_ENST00000554171.1_Silent_p.R303R|LRFN5_ENST00000554120.1_Silent_p.R303R	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	303	Ig-like.					integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		AGGGACAAAGGGCAACACTGA	0.483										HNSCC(30;0.082)																											p.R303R		Atlas-SNP	.											.	LRFN5	269	.	0			c.G909A						.						114.0	109.0	111.0					14																	42356737		2203	4300	6503	SO:0001819	synonymous_variant	145581	exon3			ACAAAGGGCAACA	AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	20360	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 8"""	612811	"""chromosome 14 open reading frame 146"""	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.909G>A	chr14.hg19:g.42356737G>A		140.0	0.0		93.0	4.0	NM_152447	B3KU78|Q86XL2	Silent	SNP	ENST00000298119.4	hg19	CCDS9678.1																																																																																			.	.		0.483	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	NM_152447	
KLHL28	54813	hgsc.bcm.edu	37	14	45414503	45414503	+	Missense_Mutation	SNP	A	A	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr14:45414503A>T	ENST00000396128.4	-	2	748	c.629T>A	c.(628-630)gTa>gAa	p.V210E	KLHL28_ENST00000355081.2_Missense_Mutation_p.V224E	NM_017658.3	NP_060128.2	Q9NXS3	KLH28_HUMAN	kelch-like family member 28	210										breast(2)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						GCGTTCTTGTACATCATACTT	0.358																																					p.V210E		Atlas-SNP	.											.	KLHL28	53	.	0			c.T629A						.						116.0	109.0	111.0					14																	45414503		2203	4300	6503	SO:0001583	missense	54813	exon2			TCTTGTACATCAT	AK000088	CCDS9680.1	14q21.1	2013-02-22	2013-02-22	2007-01-09	ENSG00000179454	ENSG00000179454		"""Kelch-like"", ""BTB/POZ domain containing"""	19741	protein-coding gene	gene with protein product			"""BTB (POZ) domain containing 5"", ""kelch-like 28 (Drosophila)"""	BTBD5			Standard	NM_017658		Approved	FLJ20081	uc001wvr.3	Q9NXS3	OTTHUMG00000140263	ENST00000396128.4:c.629T>A	chr14.hg19:g.45414503A>T	ENSP00000379434:p.Val210Glu	186.0	0.0		148.0	6.0	NM_017658	Q0VAL5	Missense_Mutation	SNP	ENST00000396128.4	hg19	CCDS9680.1	.	.	.	.	.	.	.	.	.	.	A	15.15	2.747629	0.49257	.	.	ENSG00000179454	ENST00000396128;ENST00000355081	T;T	0.68181	-0.31;-0.31	5.75	5.75	0.90469	BTB/Kelch-associated (2);	0.051465	0.85682	D	0.000000	T	0.53286	0.1787	N	0.21324	0.655	0.53688	D	0.999975	B;P	0.44946	0.01;0.846	B;B	0.41332	0.015;0.354	T	0.60525	-0.7246	10	0.87932	D	0	.	10.8718	0.46887	0.926:0.0:0.074:0.0	.	210;210	Q9NXS3-2;Q9NXS3	.;KLH28_HUMAN	E	210;224	ENSP00000379434:V210E;ENSP00000347193:V224E	ENSP00000347193:V224E	V	-	2	0	KLHL28	44484253	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.101000	0.76997	2.193000	0.70182	0.533000	0.62120	GTA	.	.		0.358	KLHL28-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276790.3		
FAM179B	23116	hgsc.bcm.edu	37	14	45464958	45464958	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr14:45464958T>C	ENST00000361577.3	+	2	2270	c.2056T>C	c.(2056-2058)Tat>Cat	p.Y686H	KLHL28_ENST00000553817.1_Intron|FAM179B_ENST00000361462.2_Missense_Mutation_p.Y686H|FAM179B_ENST00000382233.2_Missense_Mutation_p.Y686H	NM_015091.2	NP_055906.2	Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	686										endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						GTTTTCAACATATGATTTCAT	0.274																																					p.Y686H		Atlas-SNP	.											.	FAM179B	115	.	0			c.T2056C						.						58.0	58.0	58.0					14																	45464958		2201	4297	6498	SO:0001583	missense	23116	exon2			TCAACATATGATT	AB007883	CCDS9681.1	14q21.3	2008-07-21	2008-07-21	2008-07-21	ENSG00000198718	ENSG00000198718			19959	protein-coding gene	gene with protein product			"""KIAA0423"""	KIAA0423			Standard	XM_005267451		Approved		uc001wvv.3	Q9Y4F4	OTTHUMG00000140264	ENST00000361577.3:c.2056T>C	chr14.hg19:g.45464958T>C	ENSP00000355045:p.Tyr686His	107.0	0.0		65.0	4.0	NM_015091	Q68D66|Q6PG27	Missense_Mutation	SNP	ENST00000361577.3	hg19	CCDS9681.1	.	.	.	.	.	.	.	.	.	.	T	12.36	1.914015	0.33815	.	.	ENSG00000198718	ENST00000429476;ENST00000361577;ENST00000361462;ENST00000382233;ENST00000555874	T;T;T;T	0.03496	3.91;3.91;3.91;3.91	5.42	0.0567	0.14320	Armadillo-type fold (1);	0.620543	0.15421	N	0.263241	T	0.01765	0.0056	N	0.12182	0.205	0.09310	N	0.999999	B;B;B;B	0.06786	0.001;0.0;0.0;0.001	B;B;B;B	0.04013	0.001;0.0;0.001;0.001	T	0.47787	-0.9090	10	0.17832	T	0.49	-0.5589	3.2262	0.06732	0.2763:0.2429:0.0:0.4808	.	686;686;686;686	Q9Y4F4-3;G3XAE9;Q9Y4F4;Q9Y4F4-2	.;.;F179B_HUMAN;.	H	686;686;686;686;5	ENSP00000355045:Y686H;ENSP00000354917:Y686H;ENSP00000371668:Y686H;ENSP00000451141:Y5H	ENSP00000354917:Y686H	Y	+	1	0	FAM179B	44534708	0.020000	0.18652	0.783000	0.31826	0.814000	0.46013	0.378000	0.20569	0.059000	0.16252	0.477000	0.44152	TAT	.	.		0.274	FAM179B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276791.1	XM_113781	
FAM179B	23116	hgsc.bcm.edu	37	14	45535808	45535808	+	Silent	SNP	C	C	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr14:45535808C>T	ENST00000361577.3	+	16	4642	c.4428C>T	c.(4426-4428)acC>acT	p.T1476T	FAM179B_ENST00000361462.2_Silent_p.T1529T|FAM179B_ENST00000382233.2_3'UTR	NM_015091.2	NP_055906.2	Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	1476										endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						GTGAAGTCACCAGAAAATCAG	0.328																																					p.T1476T		Atlas-SNP	.											.	FAM179B	115	.	0			c.C4428T						.						115.0	116.0	116.0					14																	45535808		2203	4300	6503	SO:0001819	synonymous_variant	23116	exon16			AGTCACCAGAAAA	AB007883	CCDS9681.1	14q21.3	2008-07-21	2008-07-21	2008-07-21	ENSG00000198718	ENSG00000198718			19959	protein-coding gene	gene with protein product			"""KIAA0423"""	KIAA0423			Standard	XM_005267451		Approved		uc001wvv.3	Q9Y4F4	OTTHUMG00000140264	ENST00000361577.3:c.4428C>T	chr14.hg19:g.45535808C>T		167.0	0.0		81.0	4.0	NM_015091	Q68D66|Q6PG27	Silent	SNP	ENST00000361577.3	hg19	CCDS9681.1																																																																																			.	.		0.328	FAM179B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276791.1	XM_113781	
LGALS3	3958	hgsc.bcm.edu	37	14	55611952	55611952	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr14:55611952A>G	ENST00000254301.9	+	6	977	c.716A>G	c.(715-717)gAc>gGc	p.D239G		NM_002306.3	NP_002297.2	P17931	LEG3_HUMAN	lectin, galactoside-binding, soluble, 3	239	Galectin. {ECO:0000255|PROSITE- ProRule:PRU00639}.				eosinophil chemotaxis (GO:0048245)|epithelial cell differentiation (GO:0030855)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|mononuclear cell migration (GO:0071674)|mRNA processing (GO:0006397)|negative regulation of endocytosis (GO:0045806)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of immunological synapse formation (GO:2000521)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell receptor signaling pathway (GO:0050860)|neutrophil chemotaxis (GO:0030593)|positive chemotaxis (GO:0050918)|positive regulation of calcium ion import (GO:0090280)|positive regulation of mononuclear cell migration (GO:0071677)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of T cell apoptotic process (GO:0070232)|regulation of T cell proliferation (GO:0042129)|RNA splicing (GO:0008380)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|spliceosomal complex (GO:0005681)	carbohydrate binding (GO:0030246)|chemoattractant activity (GO:0042056)|IgE binding (GO:0019863)|laminin binding (GO:0043236)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(1)|prostate(1)	3						ATTTCTGGTGACATAGACCTC	0.373																																					p.D239G		Atlas-SNP	.											.	LGALS3	10	.	0			c.A716G						.						99.0	95.0	96.0					14																	55611952		1845	4092	5937	SO:0001583	missense	3958	exon6			CTGGTGACATAGA	M64303	CCDS41956.1	14q22.3	2014-03-19	2007-02-01		ENSG00000131981	ENSG00000131981		"""Lectins, galactoside-binding"", ""Endogenous ligands"""	6563	protein-coding gene	gene with protein product	"""galectin 3"""	153619		LGALS2		2009535, 8063692	Standard	NR_003225		Approved	MAC-2, GALIG	uc001xbr.3	P17931	OTTHUMG00000171030	ENST00000254301.9:c.716A>G	chr14.hg19:g.55611952A>G	ENSP00000254301:p.Asp239Gly	185.0	0.0		93.0	4.0	NM_002306	B2RC38|Q16005|Q6IBA7|Q96J47	Missense_Mutation	SNP	ENST00000254301.9	hg19	CCDS41956.1	.	.	.	.	.	.	.	.	.	.	A	16.73	3.204113	0.58234	.	.	ENSG00000131981	ENST00000254301	T	0.53857	0.6	5.9	5.9	0.94986	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	0.045023	0.85682	N	0.000000	T	0.74230	0.3689	M	0.81942	2.565	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.78074	-0.2346	10	0.87932	D	0	-21.6848	15.3143	0.74062	1.0:0.0:0.0:0.0	.	239	P17931	LEG3_HUMAN	G	239	ENSP00000254301:D239G	ENSP00000254301:D239G	D	+	2	0	LGALS3	54681705	1.000000	0.71417	1.000000	0.80357	0.199000	0.23934	6.722000	0.74735	2.264000	0.75181	0.533000	0.62120	GAC	.	.		0.373	LGALS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411309.1	NM_002306	
SPTB	6710	hgsc.bcm.edu	37	14	65241212	65241212	+	Missense_Mutation	SNP	G	G	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr14:65241212G>A	ENST00000389721.5	-	23	4908	c.4876C>T	c.(4876-4878)Cat>Tat	p.H1626Y	SPTB_ENST00000389720.3_Missense_Mutation_p.H1626Y|SPTB_ENST00000542895.1_Missense_Mutation_p.H1626Y|SPTB_ENST00000389722.3_Missense_Mutation_p.H1626Y|SPTB_ENST00000556626.1_Missense_Mutation_p.H1626Y	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1626					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TGCCGCAAATGTCGCTTCAGC	0.642																																					p.H1626Y		Atlas-SNP	.											.	SPTB	378	.	0			c.C4876T						.						19.0	17.0	18.0					14																	65241212		2183	4268	6451	SO:0001583	missense	6710	exon23			GCAAATGTCGCTT		CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"""Pleckstrin homology (PH) domain containing"""	11274	protein-coding gene	gene with protein product	"""spherocytosis, clinical type I"""	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.4876C>T	chr14.hg19:g.65241212G>A	ENSP00000374371:p.His1626Tyr	129.0	0.0		81.0	4.0	NM_001024858	Q15510|Q15519	Missense_Mutation	SNP	ENST00000389721.5	hg19	CCDS32100.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.620484	0.87460	.	.	ENSG00000070182	ENST00000389723;ENST00000389722;ENST00000335612;ENST00000553938;ENST00000556626;ENST00000389721;ENST00000542895;ENST00000389720	T;T;T;T;T;T	0.60040	0.22;0.22;0.22;0.22;0.22;0.22	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.81578	0.4852	M	0.91920	3.255	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	D	0.86040	0.1519	10	0.87932	D	0	.	17.6185	0.88074	0.0:0.0:1.0:0.0	.	410;1626;1630	E7EV95;P11277;Q59FP5	.;SPTB1_HUMAN;.	Y	1630;1626;410;291;1626;1626;1626;1626	ENSP00000374372:H1626Y;ENSP00000451324:H291Y;ENSP00000451752:H1626Y;ENSP00000374371:H1626Y;ENSP00000443882:H1626Y;ENSP00000374370:H1626Y	ENSP00000334218:H410Y	H	-	1	0	SPTB	64310965	1.000000	0.71417	0.994000	0.49952	0.743000	0.42351	9.833000	0.99426	2.428000	0.82296	0.542000	0.68232	CAT	.	.		0.642	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1		
SPTB	6710	hgsc.bcm.edu	37	14	65249225	65249225	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr14:65249225A>G	ENST00000389721.5	-	19	4081	c.4049T>C	c.(4048-4050)gTg>gCg	p.V1350A	SPTB_ENST00000389720.3_Missense_Mutation_p.V1350A|SPTB_ENST00000542895.1_Missense_Mutation_p.V1350A|SPTB_ENST00000389722.3_Missense_Mutation_p.V1350A|SPTB_ENST00000556626.1_Missense_Mutation_p.V1350A	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1350					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CTTTTGGGACACCAGGGCTGT	0.602																																					p.V1350A		Atlas-SNP	.											.	SPTB	378	.	0			c.T4049C						.						115.0	124.0	121.0					14																	65249225		2203	4300	6503	SO:0001583	missense	6710	exon19			TGGGACACCAGGG		CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"""Pleckstrin homology (PH) domain containing"""	11274	protein-coding gene	gene with protein product	"""spherocytosis, clinical type I"""	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.4049T>C	chr14.hg19:g.65249225A>G	ENSP00000374371:p.Val1350Ala	81.0	0.0		48.0	4.0	NM_001024858	Q15510|Q15519	Missense_Mutation	SNP	ENST00000389721.5	hg19	CCDS32100.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.428396	0.83667	.	.	ENSG00000070182	ENST00000389723;ENST00000389722;ENST00000335612;ENST00000553938;ENST00000556626;ENST00000389721;ENST00000542895;ENST00000389720	T;T;T;T;T;T	0.54866	0.55;1.18;0.55;0.55;0.55;0.55	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.78168	0.4241	M	0.93283	3.4	0.80722	D	1	D;P;D	0.60160	0.987;0.742;0.985	D;P;P	0.66351	0.943;0.479;0.861	D	0.84399	0.0559	10	0.87932	D	0	.	14.6216	0.68588	1.0:0.0:0.0:0.0	.	134;1350;1354	E7EV95;P11277;Q59FP5	.;SPTB1_HUMAN;.	A	1354;1350;134;15;1350;1350;1350;1350	ENSP00000374372:V1350A;ENSP00000451324:V15A;ENSP00000451752:V1350A;ENSP00000374371:V1350A;ENSP00000443882:V1350A;ENSP00000374370:V1350A	ENSP00000334218:V134A	V	-	2	0	SPTB	64318978	1.000000	0.71417	0.940000	0.37924	0.745000	0.42441	9.324000	0.96373	2.165000	0.68154	0.379000	0.24179	GTG	.	.		0.602	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1		
ARG2	384	hgsc.bcm.edu	37	14	68086759	68086759	+	Missense_Mutation	SNP	C	C	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr14:68086759C>A	ENST00000261783.3	+	1	245	c.65C>A	c.(64-66)tCc>tAc	p.S22Y	ARG2_ENST00000556491.1_3'UTR|Y_RNA_ENST00000364659.1_RNA	NM_001172.3	NP_001163.1	P78540	ARGI2_HUMAN	arginase 2	22					arginine metabolic process (GO:0006525)|cellular nitrogen compound metabolic process (GO:0034641)|nitric oxide biosynthetic process (GO:0006809)|small molecule metabolic process (GO:0044281)|striated muscle contraction (GO:0006941)|urea cycle (GO:0000050)|ureteric bud development (GO:0001657)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	arginase activity (GO:0004053)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|ovary(1)|prostate(1)	11				all cancers(60;0.000582)|OV - Ovarian serous cystadenocarcinoma(108;0.00392)|BRCA - Breast invasive adenocarcinoma(234;0.00928)	L-Arginine(DB00125)|L-Ornithine(DB00129)	CTGAAGAAATCCGTCCACTCC	0.612																																					p.S22Y		Atlas-SNP	.											.	ARG2	20	.	0			c.C65A						.						32.0	32.0	32.0					14																	68086759		2202	4300	6502	SO:0001583	missense	384	exon1			AGAAATCCGTCCA	D86724	CCDS9785.1	14q24.1	2013-05-01	2013-05-01			ENSG00000081181			664	protein-coding gene	gene with protein product		107830	"""arginase, type II"""			8954792, 8898077	Standard	NM_001172		Approved		uc001xjs.3	P78540		ENST00000261783.3:c.65C>A	chr14.hg19:g.68086759C>A	ENSP00000261783:p.Ser22Tyr	103.0	0.0		86.0	4.0	NM_001172	B2R690|Q6FHY8	Missense_Mutation	SNP	ENST00000261783.3	hg19	CCDS9785.1	.	.	.	.	.	.	.	.	.	.	C	14.95	2.689700	0.48097	.	.	ENSG00000081181	ENST00000261783	D	0.86562	-2.14	4.48	4.48	0.54585	.	0.273225	0.38326	N	0.001737	T	0.80380	0.4612	L	0.29908	0.895	0.35330	D	0.785522	B	0.21753	0.06	B	0.17098	0.017	T	0.81543	-0.0885	10	0.42905	T	0.14	.	14.16	0.65441	0.0:1.0:0.0:0.0	.	22	P78540	ARGI2_HUMAN	Y	22	ENSP00000261783:S22Y	ENSP00000261783:S22Y	S	+	2	0	ARG2	67156512	0.627000	0.27129	0.997000	0.53966	0.373000	0.29922	2.505000	0.45424	2.321000	0.78463	0.561000	0.74099	TCC	.	.		0.612	ARG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415190.2	NM_001172	
SIPA1L1	26037	hgsc.bcm.edu	37	14	72090842	72090842	+	Silent	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr14:72090842T>C	ENST00000555818.1	+	4	2055	c.1707T>C	c.(1705-1707)ccT>ccC	p.P569P	SIPA1L1_ENST00000381232.3_Silent_p.P569P|SIPA1L1_ENST00000358550.2_Silent_p.P569P|SIPA1L1_ENST00000537413.1_Silent_p.P44P	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	569					actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		GAGGCCTGCCTCTCAAAGAAG	0.577																																					p.P569P		Atlas-SNP	.											.	SIPA1L1	219	.	0			c.T1707C						.						165.0	148.0	154.0					14																	72090842		2203	4300	6503	SO:0001819	synonymous_variant	26037	exon4			CCTGCCTCTCAAA	AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.1707T>C	chr14.hg19:g.72090842T>C		90.0	0.0		75.0	4.0	NM_015556	J3KP19|O95321|Q9UDU4|Q9UNU4	Silent	SNP	ENST00000555818.1	hg19	CCDS9807.1																																																																																			.	.		0.577	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556	
VSX2	338917	hgsc.bcm.edu	37	14	74706312	74706312	+	Silent	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr14:74706312A>G	ENST00000261980.2	+	1	138	c.48A>G	c.(46-48)acA>acG	p.T16T		NM_182894.2	NP_878314.1	P58304	VSX2_HUMAN	visual system homeobox 2	16	Pro-rich.				cell fate commitment (GO:0045165)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to stimulus (GO:0050896)|retinal bipolar neuron differentiation (GO:0060040)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7				BRCA - Breast invasive adenocarcinoma(234;0.00154)		AATCCGAGACAGTGGCCAAGA	0.662																																					p.T16T		Atlas-SNP	.											.	VSX2	32	.	0			c.A48G						.						18.0	24.0	22.0					14																	74706312		1928	3683	5611	SO:0001819	synonymous_variant	338917	exon1			CGAGACAGTGGCC	AC005519	CCDS9827.1	14q24.3	2011-06-20	2007-08-21	2007-08-21		ENSG00000119614		"""Homeoboxes / PRD class"""	1975	protein-coding gene	gene with protein product		142993	"""C elegans ceh-10 homeo domain-containing homolog"", ""ceh-10 homeo domain containing homolog (C. elegans)"", ""ceh-10 homeodomain containing homolog (C. elegans)"""	HOX10, CHX10		1973146	Standard	NM_182894		Approved	RET1	uc001xpq.3	P58304		ENST00000261980.2:c.48A>G	chr14.hg19:g.74706312A>G		143.0	0.0		96.0	4.0	NM_182894	A1A4X6	Silent	SNP	ENST00000261980.2	hg19	CCDS9827.1																																																																																			.	.		0.662	VSX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412323.1	NM_182894	
PROX2	283571	hgsc.bcm.edu	37	14	75330181	75330181	+	Silent	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr14:75330181A>G	ENST00000445876.1	-	1	356	c.357T>C	c.(355-357)ccT>ccC	p.P119P	PROX2_ENST00000556084.2_Silent_p.P119P|PROX2_ENST00000556489.2_Silent_p.P119P			Q3B8N5	PROX2_HUMAN	prospero homeobox 2	119					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			kidney(1)|large_intestine(2)|lung(3)	6			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00652)		GGTCCCAGGCAGGGGCTGGCA	0.597																																					p.P119P		Atlas-SNP	.											.	PROX2	44	.	0			c.T357C						.						38.0	38.0	38.0					14																	75330181		1939	4145	6084	SO:0001819	synonymous_variant	283571	exon1			CCAGGCAGGGGCT		CCDS45136.1, CCDS45136.2, CCDS73663.1	14q24.3	2012-10-02			ENSG00000119608	ENSG00000119608		"""Homeoboxes / PROS class"""	26715	protein-coding gene	gene with protein product		615094					Standard	NM_001080408		Approved	FLJ36749	uc031qpi.1	Q3B8N5	OTTHUMG00000171481	ENST00000445876.1:c.357T>C	chr14.hg19:g.75330181A>G		118.0	0.0		89.0	5.0	NM_001080408	C9J5W1|Q8N9Q3	Silent	SNP	ENST00000445876.1	hg19	CCDS45136.2	.	.	.	.	.	.	.	.	.	.	A	0.541	-0.853675	0.02630	.	.	ENSG00000119608	ENST00000556084	.	.	.	5.35	1.61	0.23674	.	.	.	.	.	T	0.22244	0.0536	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.19386	-1.0307	4	.	.	.	.	2.3149	0.04196	0.5451:0.1293:0.2122:0.1133	.	.	.	.	P	119	.	.	L	-	2	0	PROX2	74399934	0.000000	0.05858	0.950000	0.38849	0.041000	0.13682	-0.196000	0.09532	0.869000	0.35703	0.454000	0.30748	CTG	.	.		0.597	PROX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			
TTLL5	23093	hgsc.bcm.edu	37	14	76156612	76156612	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr14:76156612T>C	ENST00000298832.9	+	6	654	c.449T>C	c.(448-450)tTt>tCt	p.F150S	TTLL5_ENST00000557636.1_Missense_Mutation_p.F150S|TTLL5_ENST00000286650.5_Missense_Mutation_p.F150S	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	150	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				fertilization (GO:0009566)|protein polyglutamylation (GO:0018095)|sperm axoneme assembly (GO:0007288)|sperm motility (GO:0030317)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		TTCAAGGCTTTTCACATCCTC	0.458																																					p.F150S		Atlas-SNP	.											.	TTLL5	102	.	0			c.T449C						.						157.0	125.0	136.0					14																	76156612		2203	4300	6503	SO:0001583	missense	23093	exon6			AGGCTTTTCACAT	AF107885	CCDS32124.1	14q24.3	2014-09-09	2005-07-29	2005-07-29	ENSG00000119685	ENSG00000119685		"""Tubulin tyrosine ligase-like family"""	19963	protein-coding gene	gene with protein product		612268	"""KIAA0998"""	KIAA0998		15890843	Standard	NM_015072		Approved		uc001xrx.3	Q6EMB2	OTTHUMG00000171611	ENST00000298832.9:c.449T>C	chr14.hg19:g.76156612T>C	ENSP00000298832:p.Phe150Ser	157.0	0.0		124.0	5.0	NM_015072	B9EGH8|B9EGH9|Q9BUB0|Q9H0G4|Q9H7W2|Q9P1V5|Q9UPZ4	Missense_Mutation	SNP	ENST00000298832.9	hg19	CCDS32124.1	.	.	.	.	.	.	.	.	.	.	T	26.6	4.757129	0.89843	.	.	ENSG00000119685	ENST00000557003;ENST00000557636;ENST00000286650;ENST00000298832	T;T;T	0.05996	3.36;3.36;3.36	5.26	5.26	0.73747	.	0.094170	0.85682	D	0.000000	T	0.16599	0.0399	M	0.71871	2.18	0.80722	D	1	P;P;P	0.50369	0.511;0.89;0.934	B;P;P	0.51193	0.381;0.596;0.662	T	0.00329	-1.1813	10	0.87932	D	0	.	14.1532	0.65401	0.0:0.0:0.0:1.0	.	150;150;150	G3V2J9;Q6EMB2;Q6EMB2-3	.;TTLL5_HUMAN;.	S	150	ENSP00000450713:F150S;ENSP00000286650:F150S;ENSP00000298832:F150S	ENSP00000286650:F150S	F	+	2	0	TTLL5	75226365	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	7.680000	0.84062	1.977000	0.57605	0.533000	0.62120	TTT	.	.		0.458	TTLL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414453.1	NM_015072	
C14orf159	80017	hgsc.bcm.edu	37	14	91639751	91639751	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr14:91639751A>G	ENST00000523771.1	+	6	1163	c.560A>G	c.(559-561)gAg>gGg	p.E187G	C14orf159_ENST00000520328.1_Intron|C14orf159_ENST00000523816.1_Missense_Mutation_p.E187G|C14orf159_ENST00000412671.2_Missense_Mutation_p.E192G|C14orf159_ENST00000518868.1_Missense_Mutation_p.E192G|C14orf159_ENST00000256324.10_Missense_Mutation_p.E192G|C14orf159_ENST00000428926.2_Missense_Mutation_p.E187G|C14orf159_ENST00000522322.1_Missense_Mutation_p.E187G|C14orf159_ENST00000521077.2_Missense_Mutation_p.E192G|C14orf159_ENST00000525393.2_Missense_Mutation_p.E63G			Q7Z3D6	CN159_HUMAN	chromosome 14 open reading frame 159	187						mitochondrion (GO:0005739)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0191)|all_epithelial(191;0.241)		Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207)		CTCGGAGGTGAGCAGGGGCAA	0.622											OREG0022869	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.E192G		Atlas-SNP	.											.	C14orf159	57	.	0			c.A575G						.						48.0	41.0	43.0					14																	91639751		2203	4300	6503	SO:0001583	missense	80017	exon6			GAGGTGAGCAGGG	AK097294	CCDS32141.1, CCDS41979.1, CCDS45150.1, CCDS66693.1, CCDS73677.1	14q32.11	2012-09-26			ENSG00000133943	ENSG00000133943			20498	protein-coding gene	gene with protein product							Standard	NM_001102367		Approved	FLJ39975	uc001xze.2	Q7Z3D6	OTTHUMG00000164980	ENST00000523771.1:c.560A>G	chr14.hg19:g.91639751A>G	ENSP00000429655:p.Glu187Gly	96.0	0.0	1284	90.0	4.0	NM_001102368	B3KUI7|Q86SW3|Q86SX8|Q86SX9|Q86T08|Q86TV5|Q96GW5|Q9H7G0|Q9H8Y9|Q9H9W6	Missense_Mutation	SNP	ENST00000523771.1	hg19	CCDS32141.1	.	.	.	.	.	.	.	.	.	.	A	7.709	0.694650	0.15039	.	.	ENSG00000133943	ENST00000256324;ENST00000522170;ENST00000519950;ENST00000521077;ENST00000518868;ENST00000523816;ENST00000517518;ENST00000525393;ENST00000428926;ENST00000522322;ENST00000523771;ENST00000412671	T;T;T;T;T;T;T;T;T;T;T;T	0.29397	1.57;1.57;1.57;1.57;1.57;1.57;1.57;1.57;1.57;1.57;1.57;1.57	4.29	-1.36	0.09085	.	0.856909	0.09901	N	0.741077	T	0.10852	0.0265	N	0.03608	-0.345	0.09310	N	1	B;B;B;B;B	0.25563	0.002;0.129;0.002;0.002;0.002	B;B;B;B;B	0.27887	0.007;0.084;0.007;0.004;0.004	T	0.27088	-1.0084	10	0.33141	T	0.24	.	1.471	0.02416	0.3253:0.3577:0.1833:0.1337	.	187;63;192;192;192	Q7Z3D6;Q8NB88;B3KVU6;Q7Z3D6-2;Q7Z3D6-3	CN159_HUMAN;.;.;.;.	G	192;192;192;192;192;187;192;63;187;187;187;192	ENSP00000256324:E192G;ENSP00000430666:E192G;ENSP00000428296:E192G;ENSP00000430137:E192G;ENSP00000428263:E192G;ENSP00000428974:E187G;ENSP00000428652:E192G;ENSP00000435459:E63G;ENSP00000404343:E187G;ENSP00000427953:E187G;ENSP00000429655:E187G;ENSP00000404196:E192G	ENSP00000256324:E192G	E	+	2	0	C14orf159	90709504	0.001000	0.12720	0.004000	0.12327	0.003000	0.03518	0.195000	0.17155	-0.016000	0.14127	-0.678000	0.03780	GAG	.	.		0.622	C14orf159-014	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381273.1	NM_024952	
IFI27L1	122509	hgsc.bcm.edu	37	14	94568204	94568204	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr14:94568204T>C	ENST00000555523.1	+	4	325	c.106T>C	c.(106-108)Ttc>Ctc	p.F36L	IFI27L1_ENST00000556381.1_Missense_Mutation_p.F35L|IFI27L1_ENST00000553350.1_Intron|IFI27L1_ENST00000557218.1_Intron|IFI27L1_ENST00000393115.3_Missense_Mutation_p.F36L|IFI27L1_ENST00000553664.1_Missense_Mutation_p.L58P|IFI27L1_ENST00000554562.1_Missense_Mutation_p.F36L|IFI27L1_ENST00000554544.1_Intron|IFI27L1_ENST00000557066.1_Intron	NM_206949.2	NP_996832.1	Q96BM0	I27L1_HUMAN	interferon, alpha-inducible protein 27-like 1	36						integral component of membrane (GO:0016021)				lung(2)	2						TGCCATGGGCTTCACCTCAGT	0.617																																					p.F36L		Atlas-SNP	.											.	IFI27L1	11	.	0			c.T106C						.						103.0	84.0	91.0					14																	94568204		2203	4300	6503	SO:0001583	missense	122509	exon4			ATGGGCTTCACCT	BC015423	CCDS9919.1	14q32.13	2008-10-08	2008-10-08	2008-10-08		ENSG00000165948			19754	protein-coding gene	gene with protein product		611320	"""family with sequence similarity 14, member B"""	FAM14B			Standard	NM_145249		Approved		uc001yck.3	Q96BM0		ENST00000555523.1:c.106T>C	chr14.hg19:g.94568204T>C	ENSP00000451851:p.Phe36Leu	157.0	0.0		99.0	6.0	NM_145249		Missense_Mutation	SNP	ENST00000555523.1	hg19	CCDS9919.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.69|17.69	3.452746|3.452746	0.63290|0.63290	.|.	.|.	ENSG00000165948|ENSG00000165948	ENST00000555523;ENST00000393115;ENST00000554166;ENST00000556381;ENST00000555341;ENST00000554562|ENST00000553664	T;T;T;T;T;T|.	0.53206|.	0.63;0.63;0.63;0.63;0.63;0.63|.	3.48|3.48	3.48|3.48	0.39840|0.39840	.|.	0.000000|.	0.64402|.	U|.	0.000001|.	T|T	0.78136|0.78136	0.4236|0.4236	M|M	0.91406|0.91406	3.205|3.205	0.42249|0.42249	D|D	0.991967|0.991967	D|.	0.61697|.	0.99|.	P|.	0.60682|.	0.878|.	T|T	0.81333|0.81333	-0.0980|-0.0980	10|5	0.87932|.	D|.	0|.	.|.	8.6431|8.6431	0.33989|0.33989	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	36|.	Q96BM0|.	I27L1_HUMAN|.	L|P	36;36;35;35;35;36|58	ENSP00000451851:F36L;ENSP00000376824:F36L;ENSP00000452226:F35L;ENSP00000451459:F35L;ENSP00000451608:F35L;ENSP00000450620:F36L|.	ENSP00000376824:F36L|.	F|L	+|+	1|2	0|0	IFI27L1|IFI27L1	93637957|93637957	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.012000|0.012000	0.07955|0.07955	6.638000|6.638000	0.74309|0.74309	1.836000|1.836000	0.53414|0.53414	0.482000|0.482000	0.46254|0.46254	TTC|CTT	.	.		0.617	IFI27L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412868.1	NM_206949	
PPP4R4	57718	hgsc.bcm.edu	37	14	94716580	94716580	+	Silent	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr14:94716580A>G	ENST00000304338.3	+	15	1837	c.1683A>G	c.(1681-1683)gaA>gaG	p.E561E		NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	561					negative regulation of phosphoprotein phosphatase activity (GO:0032515)|regulation of protein serine/threonine phosphatase activity (GO:0080163)	cytoplasm (GO:0005737)|protein serine/threonine phosphatase complex (GO:0008287)	protein phosphatase regulator activity (GO:0019888)			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						GTAAACAAGAACAGAGACATG	0.333																																					p.E561E		Atlas-SNP	.											PPP4R4,NS,carcinoma,0,1	PPP4R4	107	.	0			c.A1683G						.						127.0	113.0	118.0					14																	94716580		2203	4300	6503	SO:0001819	synonymous_variant	57718	exon15			ACAAGAACAGAGA	AB046842, BC068491	CCDS9921.1, CCDS9922.1	14q32.2	2014-07-18	2008-09-16	2008-09-16	ENSG00000119698	ENSG00000119698		"""Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"""	23788	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 14"""		"""KIAA1622"""	KIAA1622		18715871	Standard	NM_020958		Approved	PP4R4, CFAP14	uc001ycs.1	Q6NUP7		ENST00000304338.3:c.1683A>G	chr14.hg19:g.94716580A>G		118.0	0.0		66.0	4.0	NM_058237	Q9BUF8|Q9HCF0	Silent	SNP	ENST00000304338.3	hg19	CCDS9921.1																																																																																			.	.		0.333	PPP4R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413056.1	NM_058237	
SERPINA10	51156	hgsc.bcm.edu	37	14	94750485	94750485	+	Silent	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr14:94750485T>C	ENST00000393096.1	-	5	1617	c.1152A>G	c.(1150-1152)caA>caG	p.Q384Q	SERPINA10_ENST00000554173.1_Silent_p.Q384Q|SERPINA10_ENST00000261994.4_Silent_p.Q384Q|SERPINA10_ENST00000554723.1_Silent_p.Q424Q	NM_016186.2	NP_057270.1	Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	384			Q -> P. {ECO:0000269|Ref.4}.|Q -> R (in dbSNP:rs2232710). {ECO:0000269|PubMed:12975309}.		blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)			haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		TCACTGTTCTTTGTAAAACCT	0.423																																					p.Q384Q		Atlas-SNP	.											.	SERPINA10	83	.	0			c.A1152G						.						74.0	66.0	69.0					14																	94750485		2203	4300	6503	SO:0001819	synonymous_variant	51156	exon5			TGTTCTTTGTAAA	AF181467	CCDS9923.1	14q32.13	2014-02-18	2005-08-18		ENSG00000140093	ENSG00000140093		"""Serine (or cysteine) peptidase inhibitors"""	15996	protein-coding gene	gene with protein product		605271	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10"""			10460162, 9689066, 24172014	Standard	NM_016186		Approved	PZI, ZPI	uc001yct.3	Q9UK55	OTTHUMG00000171345	ENST00000393096.1:c.1152A>G	chr14.hg19:g.94750485T>C		91.0	0.0		62.0	4.0	NM_001100607	A5Z2A5|Q6UWX9|Q86U20	Silent	SNP	ENST00000393096.1	hg19	CCDS9923.1																																																																																			.	.		0.423	SERPINA10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413061.1	NM_016186	
SERPINA1	5265	hgsc.bcm.edu	37	14	94845816	94845816	+	Silent	SNP	G	G	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr14:94845816G>A	ENST00000448921.1	-	6	1622	c.1050C>T	c.(1048-1050)ccC>ccT	p.P350P	SERPINA1_ENST00000393088.4_Silent_p.P350P|SERPINA1_ENST00000449399.3_Silent_p.P350P|SERPINA1_ENST00000393087.4_Silent_p.P350P|SERPINA1_ENST00000440909.1_Silent_p.P350P|SERPINA1_ENST00000437397.1_Silent_p.P350P|SERPINA1_ENST00000402629.1_Silent_p.P350P|SERPINA1_ENST00000404814.4_Silent_p.P350P|SERPINA1_ENST00000355814.4_Silent_p.P350P	NM_001002236.2|NM_001127701.1|NM_001127703.1|NM_001127704.1|NM_001127705.1	NP_001002236.1|NP_001121173.1|NP_001121175.1|NP_001121176.1|NP_001121177.1	P01009	A1AT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	350					acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of proteolysis (GO:0030162)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)	glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24		all_cancers(154;0.0649)|all_epithelial(191;0.223)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		AGAGCTTCAGGGGTGCCTCCT	0.567																																					p.P350P		Atlas-SNP	.											.	SERPINA1	51	.	0			c.C1050T						.						113.0	106.0	109.0					14																	94845816		2203	4300	6503	SO:0001819	synonymous_variant	5265	exon6			CTTCAGGGGTGCC	X01683	CCDS9925.1	14q32.1	2014-02-18	2005-08-18		ENSG00000197249	ENSG00000197249		"""Serine (or cysteine) peptidase inhibitors"""	8941	protein-coding gene	gene with protein product	"""protease inhibitor 1 (anti-elastase), alpha-1-antitrypsin"""	107400	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1"""	PI		24172014	Standard	NM_000295		Approved	AAT, A1A, PI1, alpha-1-antitrypsin, A1AT, alpha1AT	uc010aux.3	P01009	OTTHUMG00000150355	ENST00000448921.1:c.1050C>T	chr14.hg19:g.94845816G>A		79.0	0.0		53.0	6.0	NM_001127701	A6PX14|B2RDQ8|Q0PVP5|Q13672|Q53XB8|Q5U0M1|Q7M4R2|Q86U18|Q86U19|Q96BF9|Q96ES1|Q9P1P0|Q9UCE6|Q9UCM3	Silent	SNP	ENST00000448921.1	hg19	CCDS9925.1																																																																																			.	.		0.567	SERPINA1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317768.2	NM_001002235	
AK7	122481	hgsc.bcm.edu	37	14	96917876	96917876	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr14:96917876T>C	ENST00000267584.4	+	10	1111	c.1067T>C	c.(1066-1068)cTc>cCc	p.L356P		NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	356					axoneme assembly (GO:0035082)|brain development (GO:0007420)|epithelial cilium movement (GO:0003351)|inflammatory response to antigenic stimulus (GO:0002437)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		AACACTATCCTCAAGGAGTAC	0.383																																					p.L356P		Atlas-SNP	.											.	AK7	69	.	0			c.T1067C						.						91.0	86.0	88.0					14																	96917876		2203	4300	6503	SO:0001583	missense	122481	exon10			CTATCCTCAAGGA	AK057426	CCDS9945.1	14q32.31	2012-08-15			ENSG00000140057	ENSG00000140057		"""Adenylate kinases"""	20091	protein-coding gene	gene with protein product		615364					Standard	NM_152327		Approved	FLJ32864	uc001yfn.3	Q96M32	OTTHUMG00000171421	ENST00000267584.4:c.1067T>C	chr14.hg19:g.96917876T>C	ENSP00000267584:p.Leu356Pro	105.0	0.0		88.0	4.0	NM_152327	Q8IYP6	Missense_Mutation	SNP	ENST00000267584.4	hg19	CCDS9945.1	.	.	.	.	.	.	.	.	.	.	T	14.95	2.687379	0.48097	.	.	ENSG00000140057	ENST00000267584	T	0.62498	0.02	5.72	5.72	0.89469	.	0.125602	0.53938	D	0.000047	T	0.67021	0.2849	L	0.60455	1.87	0.80722	D	1	D	0.56968	0.978	P	0.49421	0.61	T	0.71206	-0.4661	10	0.66056	D	0.02	-26.691	14.9982	0.71449	0.0:0.0:0.0:1.0	.	356	Q96M32	KAD7_HUMAN	P	356	ENSP00000267584:L356P	ENSP00000267584:L356P	L	+	2	0	AK7	95987629	1.000000	0.71417	1.000000	0.80357	0.047000	0.14425	4.584000	0.60971	2.189000	0.69895	0.533000	0.62120	CTC	.	.		0.383	AK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413340.1		
C14orf177	283598	hgsc.bcm.edu	37	14	99183503	99183503	+	Silent	SNP	G	G	T	rs149397774	byFrequency	TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr14:99183503G>T	ENST00000325812.2	+	4	689	c.270G>T	c.(268-270)ggG>ggT	p.G90G		NM_182560.2	NP_872366.2	Q52M58	CN177_HUMAN	chromosome 14 open reading frame 177	90										endometrium(1)|kidney(1)|large_intestine(1)|lung(10)	13		Melanoma(154;0.128)				CTTCTCCAGGGTCATGTAATC	0.438																																					p.G90G		Atlas-SNP	.											.	C14orf177	37	.	0			c.G270T						.						134.0	109.0	117.0					14																	99183503		2203	4300	6503	SO:0001819	synonymous_variant	283598	exon4			TCCAGGGTCATGT	AK098639	CCDS9948.1	14q32.2	2012-05-30			ENSG00000176605	ENSG00000176605			26375	protein-coding gene	gene with protein product						12477932	Standard	NM_182560		Approved	FLJ25773	uc001yfz.2	Q52M58	OTTHUMG00000167745	ENST00000325812.2:c.270G>T	chr14.hg19:g.99183503G>T		198.0	0.0		112.0	5.0	NM_182560	Q8N7D2	Silent	SNP	ENST00000325812.2	hg19	CCDS9948.1																																																																																			.	G|1.000;A|0.000		0.438	C14orf177-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396078.1	NM_182560	
HSP90AA1	3320	hgsc.bcm.edu	37	14	102548723	102548723	+	Missense_Mutation	SNP	C	C	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr14:102548723C>A	ENST00000216281.8	-	10	2019	c.1814G>T	c.(1813-1815)gGc>gTc	p.G605V	HSP90AA1_ENST00000334701.7_Missense_Mutation_p.G727V	NM_005348.3	NP_005339.3	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	605					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone-mediated protein complex assembly (GO:0051131)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|mitochondrial transport (GO:0006839)|mitotic cell cycle (GO:0000278)|nitric oxide metabolic process (GO:0046209)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|protein import into mitochondrial outer membrane (GO:0045040)|protein refolding (GO:0042026)|regulation of nitric-oxide synthase activity (GO:0050999)|response to unfolded protein (GO:0006986)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|identical protein binding (GO:0042802)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Nedocromil(DB00716)|Rifabutin(DB00615)	TGCTGTCCAGCCATATGTGCT	0.423																																					p.G727V		Atlas-SNP	.											.	HSP90AA1	65	.	0			c.G2180T						.						70.0	69.0	70.0					14																	102548723		2203	4300	6503	SO:0001583	missense	3320	exon11			GTCCAGCCATATG	M27024	CCDS9967.1, CCDS32160.1	14q32.33	2011-09-02	2006-02-24	2006-02-24	ENSG00000080824	ENSG00000080824		"""Heat shock proteins / HSPC"""	5253	protein-coding gene	gene with protein product		140571	"""heat shock 90kD protein 1, alpha"", ""heat shock 90kDa protein 1, alpha"""	HSPC1, HSPCA		2527334, 16269234	Standard	NM_001017963		Approved	Hsp89, Hsp90, FLJ31884, HSP90N	uc001ykv.4	P07900		ENST00000216281.8:c.1814G>T	chr14.hg19:g.102548723C>A	ENSP00000216281:p.Gly605Val	136.0	0.0		99.0	5.0	NM_001017963	A8K500|B3KPJ9|Q2PP14|Q5CAQ6|Q5CAQ7|Q9BVQ5	Missense_Mutation	SNP	ENST00000216281.8	hg19	CCDS9967.1	.	.	.	.	.	.	.	.	.	.	c	23.8	4.459420	0.84317	.	.	ENSG00000080824	ENST00000216281;ENST00000334701	T;T	0.26067	1.76;1.76	4.51	4.51	0.55191	.	0.000000	0.85682	U	0.000000	T	0.73497	0.3594	H	0.99927	4.965	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.994;0.997	D	0.88014	0.2764	10	0.87932	D	0	-22.548	17.5881	0.87988	0.0:1.0:0.0:0.0	.	727;605	P07900-2;P07900	.;HS90A_HUMAN	V	605;727	ENSP00000216281:G605V;ENSP00000335153:G727V	ENSP00000216281:G605V	G	-	2	0	HSP90AA1	101618476	1.000000	0.71417	0.994000	0.49952	0.965000	0.64279	7.497000	0.81536	2.228000	0.72767	0.585000	0.79938	GGC	.	.		0.423	HSP90AA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414952.2	NM_005348	
BAG5	9529	hgsc.bcm.edu	37	14	104026246	104026246	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr14:104026246T>C	ENST00000445922.2	-	2	1502	c.1256A>G	c.(1255-1257)aAg>aGg	p.K419R	BAG5_ENST00000299204.4_Missense_Mutation_p.K419R|BAG5_ENST00000337322.4_Missense_Mutation_p.K460R|RP11-894P9.2_ENST00000556332.1_RNA	NM_004873.3	NP_004864.1	Q9UL15	BAG5_HUMAN	BCL2-associated athanogene 5	419	BAG 5. {ECO:0000255|PROSITE- ProRule:PRU00369}.				negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of protein refolding (GO:0061084)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|neuron death (GO:0070997)|protein folding (GO:0006457)|regulation of inclusion body assembly (GO:0090083)	inclusion body (GO:0016234)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	chaperone binding (GO:0051087)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625)			endometrium(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	24		Melanoma(154;0.155)	Epithelial(46;0.144)			AGCCTTACACTTCTCTTCTCC	0.488																																					p.K460R	NSCLC(171;1832 2055 18950 31566 41632)	Atlas-SNP	.											.	BAG5	47	.	0			c.A1379G						.						100.0	95.0	96.0					14																	104026246		2203	4300	6503	SO:0001583	missense	9529	exon2			TTACACTTCTCTT	AF095195	CCDS9982.1, CCDS41995.1	14q32	2008-08-01				ENSG00000166170			941	protein-coding gene	gene with protein product		603885				9873016, 15603737	Standard	NM_001015048		Approved		uc001ynh.2	Q9UL15		ENST00000445922.2:c.1256A>G	chr14.hg19:g.104026246T>C	ENSP00000391713:p.Lys419Arg	148.0	0.0		88.0	4.0	NM_001015049	O94950|Q86W59	Missense_Mutation	SNP	ENST00000445922.2	hg19	CCDS9982.1	.	.	.	.	.	.	.	.	.	.	T	4.163	0.028833	0.08054	.	.	ENSG00000166170	ENST00000299204;ENST00000445922;ENST00000337322	D;D;D	0.87966	-2.32;-2.32;-2.32	5.74	-0.934	0.10428	BAG domain (3);	0.700611	0.12922	N	0.428111	T	0.55625	0.1932	N	0.00707	-1.245	0.09310	N	0.999997	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.53968	-0.8363	10	0.11794	T	0.64	-14.8627	3.4516	0.07501	0.1268:0.4304:0.1306:0.3123	.	419;460	Q9UL15;Q9UL15-2	BAG5_HUMAN;.	R	419;419;460	ENSP00000299204:K419R;ENSP00000391713:K419R;ENSP00000338814:K460R	ENSP00000299204:K419R	K	-	2	0	BAG5	103095999	0.001000	0.12720	0.068000	0.19968	0.756000	0.42949	0.064000	0.14437	-0.298000	0.08921	-0.371000	0.07208	AAG	.	.		0.488	BAG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414990.1		
CEP170B	283638	hgsc.bcm.edu	37	14	105349493	105349493	+	Silent	SNP	C	C	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr14:105349493C>T	ENST00000414716.3	+	8	927	c.699C>T	c.(697-699)acC>acT	p.T233T	CEP170B_ENST00000418279.1_Silent_p.T163T|CEP170B_ENST00000453495.1_Silent_p.T234T|CEP170B_ENST00000556508.1_Silent_p.T163T	NM_001112726.2	NP_001106197.1	Q9Y4F5	C170B_HUMAN	centrosomal protein 170B	233						cytoplasm (GO:0005737)|microtubule (GO:0005874)											CGAAGGAGACCCCGCAGCCGT	0.716																																					p.T233T		Atlas-SNP	.											.	.	.	.	0			c.C699T						.						16.0	21.0	19.0					14																	105349493		1944	4118	6062	SO:0001819	synonymous_variant	283638	exon8			GGAGACCCCGCAG	AB006622	CCDS45175.1, CCDS45176.1, CCDS45176.2	14q32.33	2014-02-20	2012-11-30	2012-11-30	ENSG00000099814	ENSG00000099814			20362	protein-coding gene	gene with protein product	"""Cep170-related"""		"""KIAA0284"""	KIAA0284		23087211	Standard	NM_015005		Approved	FAM68C, Cep170R	uc010axb.4	Q9Y4F5	OTTHUMG00000170763	ENST00000414716.3:c.699C>T	chr14.hg19:g.105349493C>T		105.0	0.0		70.0	4.0	NM_001112726	Q2KHR7|Q86TI7	Silent	SNP	ENST00000414716.3	hg19	CCDS45175.1																																																																																			.	.		0.716	CEP170B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000410289.2	NM_001112726	
FAN1	22909	hgsc.bcm.edu	37	15	31221547	31221547	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr15:31221547A>G	ENST00000362065.4	+	12	3025	c.2734A>G	c.(2734-2736)Aga>Gga	p.R912G	FAN1_ENST00000568145.1_3'UTR|RP11-540B6.6_ENST00000602886.1_RNA	NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN	FANCD2/FANCI-associated nuclease 1	912	VRR-NUC.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA incision (GO:0033683)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|5'-flap endonuclease activity (GO:0017108)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|phosphodiesterase I activity (GO:0004528)|ubiquitin binding (GO:0043130)			autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						GCAGGAAGGCAGAGTGGCTTC	0.597								Direct reversal of damage																													p.R912G		Atlas-SNP	.											.	FAN1	77	.	0			c.A2734G						.						130.0	127.0	128.0					15																	31221547		2202	4300	6502	SO:0001583	missense	22909	exon12			GAAGGCAGAGTGG		CCDS32186.1, CCDS58344.1	15q13.2-q13.3	2010-08-04	2010-08-04	2010-08-04		ENSG00000198690			29170	protein-coding gene	gene with protein product		613534	"""KIAA1018"", ""myotubularin related protein 15"""	KIAA1018, MTMR15		20603015, 20603016, 20603073	Standard	NM_014967		Approved		uc001zff.3	Q9Y2M0		ENST00000362065.4:c.2734A>G	chr15.hg19:g.31221547A>G	ENSP00000354497:p.Arg912Gly	133.0	0.0		100.0	26.0	NM_014967	A8K4M2|Q86WU8	Missense_Mutation	SNP	ENST00000362065.4	hg19	CCDS32186.1	.	.	.	.	.	.	.	.	.	.	A	18.10	3.548380	0.65311	.	.	ENSG00000198690	ENST00000362065	D	0.85484	-1.99	5.39	-1.59	0.08453	VRR-NUC (1);	0.111885	0.64402	D	0.000012	T	0.81153	0.4763	M	0.62723	1.935	0.80722	D	1	P;P	0.44344	0.833;0.737	B;B	0.42959	0.403;0.403	T	0.77480	-0.2572	10	0.56958	D	0.05	-23.1458	10.0175	0.42022	0.4853:0.4507:0.0639:0.0	.	912;912	Q9Y2M0;D9MXF4	FAN1_HUMAN;.	G	912	ENSP00000354497:R912G	ENSP00000354497:R912G	R	+	1	2	FAN1	29008839	0.832000	0.29368	0.639000	0.29394	0.798000	0.45092	1.308000	0.33528	-0.182000	0.10602	0.528000	0.53228	AGA	.	.		0.597	FAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430740.1	NM_014967	
RYR3	6263	hgsc.bcm.edu	37	15	34040731	34040731	+	Splice_Site	SNP	G	G	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr15:34040731G>T	ENST00000389232.4	+	55	8269	c.8199G>T	c.(8197-8199)caG>caT	p.Q2733H	RYR3_ENST00000415757.3_Splice_Site_p.Q2733H	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2733	4 X approximate repeats.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GAGAGCTCCAGGTCAGTGCCC	0.507																																					p.Q2733H		Atlas-SNP	.											.	RYR3	760	.	0			c.G8199T						.						61.0	60.0	60.0					15																	34040731		1943	4139	6082	SO:0001630	splice_region_variant	6263	exon55			GCTCCAGGTCAGT		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.8199+1G>T	chr15.hg19:g.34040731G>T		71.0	0.0		75.0	4.0	NM_001243996	O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	hg19	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.124196	0.77436	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.91894	-2.93;-2.93	5.04	5.04	0.67666	Ryanodine receptor Ryr (1);	0.000000	0.85682	D	0.000000	D	0.94404	0.8200	L	0.53780	1.695	0.80722	D	1	D;B	0.69078	0.997;0.046	D;B	0.68483	0.958;0.056	D	0.92968	0.6395	10	0.31617	T	0.26	.	17.3179	0.87228	0.0:0.0:1.0:0.0	.	2733;2733	Q15413-2;Q15413	.;RYR3_HUMAN	H	2733	ENSP00000373884:Q2733H;ENSP00000399610:Q2733H	ENSP00000354735:Q2733H	Q	+	3	2	RYR3	31828023	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	8.577000	0.90773	2.610000	0.88304	0.561000	0.74099	CAG	.	.		0.507	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1		Missense_Mutation
SLC12A6	9990	hgsc.bcm.edu	37	15	34547554	34547554	+	Missense_Mutation	SNP	G	G	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr15:34547554G>T	ENST00000354181.3	-	8	1277	c.785C>A	c.(784-786)cCa>cAa	p.P262Q	SLC12A6_ENST00000397702.2_Missense_Mutation_p.P203Q|SLC12A6_ENST00000558589.1_Missense_Mutation_p.P253Q|SLC12A6_ENST00000560164.1_Missense_Mutation_p.P74Q|SLC12A6_ENST00000458406.2_Missense_Mutation_p.P203Q|SLC12A6_ENST00000558667.1_Missense_Mutation_p.P262Q|SLC12A6_ENST00000560611.1_Missense_Mutation_p.P262Q|SLC12A6_ENST00000451844.2_Missense_Mutation_p.P74Q|SLC12A6_ENST00000290209.5_Missense_Mutation_p.P211Q|RP11-1084A12.2_ENST00000559867.1_RNA|SLC12A6_ENST00000397707.2_Missense_Mutation_p.P247Q			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	262					angiogenesis (GO:0001525)|cellular hypotonic response (GO:0071476)|cellular hypotonic salinity response (GO:0071477)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|rubidium ion transport (GO:0035826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium ion transmembrane transporter activity (GO:0015079)|potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)|rubidium ion transmembrane transporter activity (GO:0035827)			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	ACCAAACTCTGGGCCCAGTGC	0.443																																					p.P262Q		Atlas-SNP	.											.	SLC12A6	205	.	0			c.C785A						.						64.0	66.0	65.0					15																	34547554		2201	4298	6499	SO:0001583	missense	9990	exon7			AACTCTGGGCCCA	AF108831	CCDS10036.1, CCDS42010.1, CCDS42011.1, CCDS42012.1, CCDS58352.1	15q13	2014-09-17	2013-07-18		ENSG00000140199	ENSG00000140199		"""Solute carriers"""	10914	protein-coding gene	gene with protein product		604878	"""agenesis of corpus callosum and peripheral neuropathy (Andermann syndrome)"""	KCC3, ACCPN		10187864, 10347194	Standard	NM_133647		Approved		uc001zhw.3	Q9UHW9	OTTHUMG00000129441	ENST00000354181.3:c.785C>A	chr15.hg19:g.34547554G>T	ENSP00000346112:p.Pro262Gln	108.0	0.0		69.0	4.0	NM_133647	A0AV76|Q2VI00|Q7Z2E7|Q7Z4G5|Q8TDD4|Q9UFR2|Q9Y642|Q9Y665	Missense_Mutation	SNP	ENST00000354181.3	hg19	CCDS58352.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.992616	0.93167	.	.	ENSG00000140199	ENST00000290209;ENST00000397707;ENST00000354181;ENST00000397702;ENST00000458406;ENST00000451844	D;D;D;D;D	0.99089	-5.41;-5.41;-5.41;-5.41;-5.41	5.43	5.43	0.79202	Amino acid permease domain (1);	0.066377	0.64402	D	0.000012	D	0.99573	0.9846	H	0.96720	3.87	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.993;0.999;0.997;1.0	D	0.98018	1.0369	10	0.87932	D	0	.	18.1759	0.89761	0.0:0.0:1.0:0.0	.	247;262;211;74	Q9UHW9-3;Q9UHW9;A0AV76;B3KXX3	.;S12A6_HUMAN;.;.	Q	211;247;253;203;203;74	ENSP00000290209:P211Q;ENSP00000380819:P247Q;ENSP00000380814:P203Q;ENSP00000387725:P203Q;ENSP00000390199:P74Q	ENSP00000290209:P211Q	P	-	2	0	SLC12A6	32334846	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.657000	0.98554	2.826000	0.97356	0.655000	0.94253	CCA	.	.		0.443	SLC12A6-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000417991.1	NM_005135	
RPUSD2	27079	hgsc.bcm.edu	37	15	40865856	40865856	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr15:40865856A>G	ENST00000315616.7	+	3	1072	c.1034A>G	c.(1033-1035)gAg>gGg	p.E345G	RPUSD2_ENST00000559271.1_Missense_Mutation_p.E284G	NM_152260.1	NP_689473.1	Q8IZ73	RUSD2_HUMAN	RNA pseudouridylate synthase domain containing 2	345					pseudouridine synthesis (GO:0001522)		poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)			kidney(4)|lung(4)|skin(3)	11		all_cancers(109;2.74e-14)|all_epithelial(112;1.64e-11)|Lung NSC(122;6.69e-09)|all_lung(180;1.22e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3.1e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0786)		AAGCCCTGTGAGACAGTGTTC	0.567																																					p.E345G		Atlas-SNP	.											.	RPUSD2	28	.	0			c.A1034G						.						90.0	69.0	76.0					15																	40865856		2203	4300	6503	SO:0001583	missense	27079	exon3			CCTGTGAGACAGT	AK055971	CCDS10061.1, CCDS66737.1	15q13.3	2013-02-11	2005-01-31	2005-02-07	ENSG00000166133	ENSG00000166133		"""RNA pseudouridylate synthase domain containing"""	24180	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 19"""	C15orf19		12477932	Standard	NM_001286407		Approved	C18B11, FLJ31409	uc001zmd.1	Q8IZ73	OTTHUMG00000130031	ENST00000315616.7:c.1034A>G	chr15.hg19:g.40865856A>G	ENSP00000323288:p.Glu345Gly	118.0	0.0		92.0	4.0	NM_152260	B4DDD1|Q7L989|Q92939|Q96IA7|Q96N50	Missense_Mutation	SNP	ENST00000315616.7	hg19	CCDS10061.1	.	.	.	.	.	.	.	.	.	.	A	22.4	4.279287	0.80692	.	.	ENSG00000166133	ENST00000315616;ENST00000417769	T	0.22743	1.94	5.94	4.83	0.62350	Pseudouridine synthase, RsuA and RluB/C/D/E/F (1);Pseudouridine synthase, catalytic domain (1);	0.223555	0.46145	D	0.000320	T	0.34716	0.0907	M	0.82716	2.605	0.36113	D	0.844958	P	0.39665	0.682	P	0.45538	0.484	T	0.48948	-0.8989	10	0.46703	T	0.11	-27.6584	11.2092	0.48788	0.9282:0.0:0.0718:0.0	.	345	Q8IZ73	RUSD2_HUMAN	G	345;324	ENSP00000323288:E345G	ENSP00000323288:E345G	E	+	2	0	RPUSD2	38653148	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.078000	0.71282	2.265000	0.75225	0.482000	0.46254	GAG	.	.		0.567	RPUSD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252308.2	NM_152260	
CASC5	57082	hgsc.bcm.edu	37	15	40914165	40914165	+	Missense_Mutation	SNP	C	C	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr15:40914165C>T	ENST00000346991.5	+	11	2171	c.1781C>T	c.(1780-1782)tCa>tTa	p.S594L	CASC5_ENST00000527044.1_3'UTR|CASC5_ENST00000399668.2_Missense_Mutation_p.S568L			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	594	Interaction with BUB1 and BUB1B.				acrosome assembly (GO:0001675)|attachment of spindle microtubules to kinetochore (GO:0008608)|CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|nucleosome assembly (GO:0006334)|protein localization to kinetochore (GO:0034501)|spindle assembly checkpoint (GO:0071173)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		GAACTCTTATCAGGTGAAAAT	0.383																																					p.S594L		Atlas-SNP	.											.	CASC5	269	.	0			c.C1781T						.						56.0	52.0	53.0					15																	40914165		1863	4106	5969	SO:0001583	missense	57082	exon11			TCTTATCAGGTGA	AF173994	CCDS42023.1, CCDS42024.1	15q14	2013-07-03			ENSG00000137812	ENSG00000137812		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	24054	protein-coding gene	gene with protein product	"""cancer/testis antigen 29"", ""kinetochore null 1 homolog (C. elegans)"", ""blinkin, bub-linking kinetochore protein"", ""protein phosphatase 1, regulatory subunit 55"""	609173				10980622, 10780384, 18045986	Standard	NM_170589		Approved	D40, AF15Q14, CT29, hKNL-1, KNL1, hSpc105, PPP1R55, Spc7	uc010bbt.1	Q8NG31	OTTHUMG00000166532	ENST00000346991.5:c.1781C>T	chr15.hg19:g.40914165C>T	ENSP00000335463:p.Ser594Leu	130.0	0.0		95.0	5.0	NM_170589	Q8NHE1|Q8WXA6|Q9HCK2|Q9NR92	Missense_Mutation	SNP	ENST00000346991.5	hg19	CCDS42023.1	.	.	.	.	.	.	.	.	.	.	C	9.287	1.049751	0.19827	.	.	ENSG00000137812	ENST00000346991;ENST00000260369;ENST00000399668	T;T	0.06849	3.25;3.26	4.7	1.72	0.24424	.	2.059420	0.02153	N	0.058167	T	0.08802	0.0218	L	0.39898	1.24	0.09310	N	1	B;B;B	0.15141	0.012;0.001;0.005	B;B;B	0.16289	0.013;0.003;0.015	T	0.33189	-0.9878	10	0.39692	T	0.17	.	3.7933	0.08730	0.2913:0.4722:0.0:0.2365	.	568;594;568	Q8NG31-2;Q8NG31;Q8NG31-4	.;CASC5_HUMAN;.	L	594;568;568	ENSP00000335463:S594L;ENSP00000382576:S568L	ENSP00000260369:S568L	S	+	2	0	CASC5	38701457	0.000000	0.05858	0.018000	0.16275	0.567000	0.35839	0.206000	0.17375	0.199000	0.20427	0.455000	0.32223	TCA	.	.		0.383	CASC5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390224.2	NM_144508	
VPS18	57617	hgsc.bcm.edu	37	15	41191112	41191112	+	Silent	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr15:41191112T>C	ENST00000220509.5	+	3	580	c.241T>C	c.(241-243)Ttg>Ctg	p.L81L	VPS18_ENST00000558474.1_Silent_p.L81L	NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18 homolog (S. cerevisiae)	81					endosome organization (GO:0007032)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|vesicle-mediated transport (GO:0016192)|viral entry into host cell (GO:0046718)	actin filament (GO:0005884)|early endosome (GO:0005769)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	metal ion binding (GO:0046872)			autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		CAGCATTGACTTGGGCAAGGC	0.443																																					p.L81L		Atlas-SNP	.											.	VPS18	67	.	0			c.T241C						.						97.0	80.0	86.0					15																	41191112		2203	4300	6503	SO:0001819	synonymous_variant	57617	exon3			ATTGACTTGGGCA	AF308802	CCDS10069.1	15q14-q15	2006-12-19	2006-12-19		ENSG00000104142	ENSG00000104142			15972	protein-coding gene	gene with protein product		608551	"""vacuolar protein sorting protein 18"""			11250079, 16203730	Standard	NM_020857		Approved	KIAA1475, PEP3	uc001zne.3	Q9P253	OTTHUMG00000130135	ENST00000220509.5:c.241T>C	chr15.hg19:g.41191112T>C		100.0	0.0		75.0	4.0	NM_020857	Q8TCG0|Q96DI3|Q9H268	Silent	SNP	ENST00000220509.5	hg19	CCDS10069.1																																																																																			.	.		0.443	VPS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252443.2		
INO80	54617	hgsc.bcm.edu	37	15	41339666	41339666	+	Missense_Mutation	SNP	C	C	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr15:41339666C>A	ENST00000361937.3	-	23	3099	c.2675G>T	c.(2674-2676)cGc>cTc	p.R892L	INO80_ENST00000401393.3_Missense_Mutation_p.R892L			Q9ULG1	INO80_HUMAN	INO80 complex subunit	892	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.				ATP catabolic process (GO:0006200)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|mitotic sister chromatid segregation (GO:0000070)|positive regulation of cell growth (GO:0030307)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|spindle assembly (GO:0051225)|UV-damage excision repair (GO:0070914)	Ino80 complex (GO:0031011)|microtubule (GO:0005874)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						ATCAATAAAGCGAAGGAAAGA	0.403																																					p.R892L		Atlas-SNP	.											.	INO80	122	.	0			c.G2675T						.						66.0	68.0	67.0					15																	41339666		2203	4300	6503	SO:0001583	missense	54617	exon23			ATAAAGCGAAGGA	AB033085	CCDS10071.1	15q15.1	2013-08-21	2013-08-21	2008-08-07	ENSG00000128908	ENSG00000128908	3.6.1.3	"""INO80 complex subunits"""	26956	protein-coding gene	gene with protein product	"""INO80 complex subunit A"""	610169	"""INO80 complex homolog 1 (S. cerevisiae)"", ""INO80 homolog (S. cerevisiae)"""	INOC1		16298340, 16230350, 20237820	Standard	NM_017553		Approved	KIAA1259, Ino80, hINO80, INO80A	uc001zni.3	Q9ULG1	OTTHUMG00000130209	ENST00000361937.3:c.2675G>T	chr15.hg19:g.41339666C>A	ENSP00000355205:p.Arg892Leu	89.0	0.0		60.0	4.0	NM_017553	A6H8X4|Q9NTG6	Missense_Mutation	SNP	ENST00000361937.3	hg19	CCDS10071.1	.	.	.	.	.	.	.	.	.	.	C	32	5.139513	0.94560	.	.	ENSG00000128908	ENST00000361937;ENST00000401393	D;D	0.93247	-3.19;-3.19	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	D	0.96658	0.8909	M	0.78344	2.41	0.80722	D	1	D	0.63880	0.993	D	0.74023	0.982	D	0.96806	0.9593	10	0.87932	D	0	.	19.1067	0.93299	0.0:1.0:0.0:0.0	.	892	Q9ULG1	INO80_HUMAN	L	892	ENSP00000355205:R892L;ENSP00000384686:R892L	ENSP00000355205:R892L	R	-	2	0	INO80	39126958	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.674000	0.74487	2.826000	0.97356	0.491000	0.48974	CGC	.	.		0.403	INO80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252527.2	NM_017553	
MAPKBP1	23005	hgsc.bcm.edu	37	15	42104835	42104835	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr15:42104835A>G	ENST00000456763.2	+	7	816	c.620A>G	c.(619-621)gAc>gGc	p.D207G	MAPKBP1_ENST00000457542.2_Missense_Mutation_p.D207G|MAPKBP1_ENST00000221214.6_Missense_Mutation_p.D207G|MAPKBP1_ENST00000260357.7_Missense_Mutation_p.D95G|MAPKBP1_ENST00000514566.1_Missense_Mutation_p.D207G	NM_001128608.1	NP_001122080.1	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	207										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		TATCTCGATGACAGCAAGACC	0.572																																					p.D207G		Atlas-SNP	.											.	MAPKBP1	120	.	0			c.A620G						.						71.0	65.0	67.0					15																	42104835		2203	4300	6503	SO:0001583	missense	23005	exon7			TCGATGACAGCAA	AB011168	CCDS32201.1, CCDS45239.1, CCDS58359.1	15q15.1	2013-01-10	2008-01-30		ENSG00000137802	ENSG00000137802		"""WD repeat domain containing"""	29536	protein-coding gene	gene with protein product			"""mitogen activated protein kinase binding protein 1"""			9628581, 10471813	Standard	NM_014994		Approved	KIAA0596	uc001zok.4	O60336	OTTHUMG00000160227	ENST00000456763.2:c.620A>G	chr15.hg19:g.42104835A>G	ENSP00000393099:p.Asp207Gly	110.0	0.0		61.0	4.0	NM_001128608	A6NM93|A8K8P9|Q14CB5|Q14CD8|Q49AJ8|Q5W9G9	Missense_Mutation	SNP	ENST00000456763.2	hg19	CCDS45239.1	.	.	.	.	.	.	.	.	.	.	a	19.15	3.771653	0.69992	.	.	ENSG00000137802	ENST00000457542;ENST00000221214;ENST00000260357;ENST00000456763;ENST00000514566	T;T;T;T;T	0.57436	1.18;0.4;0.93;1.23;1.33	5.95	5.95	0.96441	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.088446	0.85682	D	0.000000	T	0.53753	0.1816	L	0.29908	0.895	0.45594	D	0.998539	D;P;P;B	0.60575	0.988;0.726;0.629;0.038	P;B;B;B	0.53861	0.736;0.399;0.444;0.12	T	0.48736	-0.9009	10	0.27082	T	0.32	-24.1512	16.4101	0.83708	1.0:0.0:0.0:0.0	.	95;207;207;207	F8WC21;O60336-2;O60336;O60336-6	.;.;MABP1_HUMAN;.	G	207;207;95;207;207	ENSP00000397570:D207G;ENSP00000221214:D207G;ENSP00000260357:D95G;ENSP00000393099:D207G;ENSP00000426154:D207G	ENSP00000221214:D207G	D	+	2	0	MAPKBP1	39892127	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	5.975000	0.70475	2.280000	0.76307	0.460000	0.39030	GAC	.	.		0.572	MAPKBP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359745.1	NM_014994	
MAPKBP1	23005	hgsc.bcm.edu	37	15	42107824	42107824	+	Silent	SNP	C	C	T	rs200313290		TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr15:42107824C>T	ENST00000456763.2	+	13	1534	c.1338C>T	c.(1336-1338)gaC>gaT	p.D446D	MAPKBP1_ENST00000457542.2_Silent_p.D440D|MAPKBP1_ENST00000221214.6_Silent_p.D323D|MAPKBP1_ENST00000260357.7_Silent_p.D279D|MAPKBP1_ENST00000514566.1_Silent_p.D440D	NM_001128608.1	NP_001122080.1	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	446								p.D440D(1)		breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		TCCACTAGGACCTCATTAAAA	0.537																																					p.D446D		Atlas-SNP	.											MAPKBP1,brain,glioma,0,1	MAPKBP1	120	.	1	Substitution - coding silent(1)	central_nervous_system(1)	c.C1338T						.						47.0	43.0	44.0					15																	42107824		2203	4300	6503	SO:0001819	synonymous_variant	23005	exon13			CTAGGACCTCATT	AB011168	CCDS32201.1, CCDS45239.1, CCDS58359.1	15q15.1	2013-01-10	2008-01-30		ENSG00000137802	ENSG00000137802		"""WD repeat domain containing"""	29536	protein-coding gene	gene with protein product			"""mitogen activated protein kinase binding protein 1"""			9628581, 10471813	Standard	NM_014994		Approved	KIAA0596	uc001zok.4	O60336	OTTHUMG00000160227	ENST00000456763.2:c.1338C>T	chr15.hg19:g.42107824C>T		47.0	0.0		25.0	2.0	NM_001128608	A6NM93|A8K8P9|Q14CB5|Q14CD8|Q49AJ8|Q5W9G9	Silent	SNP	ENST00000456763.2	hg19	CCDS45239.1																																																																																			.	C|1.000;A|0.000		0.537	MAPKBP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359745.1	NM_014994	
GANC	2595	hgsc.bcm.edu	37	15	42621587	42621587	+	Silent	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr15:42621587T>C	ENST00000318010.8	+	14	1824	c.1584T>C	c.(1582-1584)aaT>aaC	p.N528N		NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C	528					carbohydrate metabolic process (GO:0005975)		alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450)			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)	Miglitol(DB00491)	TGCAGAAGAATGCCATTCATC	0.443																																					p.N528N		Atlas-SNP	.											.	GANC	57	.	0			c.T1584C						.						119.0	101.0	107.0					15																	42621587		2203	4299	6502	SO:0001819	synonymous_variant	2595	exon14			GAAGAATGCCATT	AF545045	CCDS10084.1	15q15.2	2012-10-02			ENSG00000214013	ENSG00000214013	3.2.1.20		4139	protein-coding gene	gene with protein product		104180				6995030, 12370436	Standard	NM_198141		Approved		uc001zpi.3	Q8TET4	OTTHUMG00000130487	ENST00000318010.8:c.1584T>C	chr15.hg19:g.42621587T>C		69.0	0.0		46.0	4.0	NM_198141	Q52LQ4|Q8IWZ0|Q8IZM4|Q8IZM5	Silent	SNP	ENST00000318010.8	hg19	CCDS10084.1																																																																																			.	.		0.443	GANC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252887.2	NM_198141	
LRRC57	255252	hgsc.bcm.edu	37	15	42839716	42839716	+	Missense_Mutation	SNP	C	C	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr15:42839716C>A	ENST00000323443.2	-	3	602	c.235G>T	c.(235-237)Gat>Tat	p.D79Y	HAUS2_ENST00000568876.1_5'Flank|HAUS2_ENST00000260372.3_5'Flank|HAUS2_ENST00000568846.2_5'Flank|LRRC57_ENST00000563454.1_Missense_Mutation_p.D79Y|LRRC57_ENST00000397130.3_Missense_Mutation_p.D79Y			Q8N9N7	LRC57_HUMAN	leucine rich repeat containing 57	79						extracellular vesicular exosome (GO:0070062)				breast(1)|kidney(1)|lung(5)|prostate(1)	8		all_cancers(109;1.99e-12)|all_epithelial(112;5.11e-11)|Lung NSC(122;4.53e-07)|all_lung(180;1.64e-06)|Melanoma(134;0.0262)		GBM - Glioblastoma multiforme(94;6.87e-07)		CATATCTCATCAGGCAGAACA	0.403																																					p.D79Y		Atlas-SNP	.											.	LRRC57	20	.	0			c.G235T						.						70.0	71.0	70.0					15																	42839716		2203	4299	6502	SO:0001583	missense	255252	exon4			TCTCATCAGGCAG	AK094891	CCDS10089.1	15q15.1	2006-02-13			ENSG00000180979	ENSG00000180979			26719	protein-coding gene	gene with protein product							Standard	NM_153260		Approved	FLJ36812	uc001zqc.3	Q8N9N7	OTTHUMG00000130679	ENST00000323443.2:c.235G>T	chr15.hg19:g.42839716C>A	ENSP00000326817:p.Asp79Tyr	207.0	0.0		115.0	5.0	NM_153260	Q7Z2Z6|Q8N1T6	Missense_Mutation	SNP	ENST00000323443.2	hg19	CCDS10089.1	.	.	.	.	.	.	.	.	.	.	C	14.53	2.563885	0.45694	.	.	ENSG00000180979	ENST00000323443;ENST00000397130	T;T	0.55052	0.54;0.54	5.63	5.63	0.86233	.	0.918363	0.09517	N	0.791423	T	0.59905	0.2228	L	0.60904	1.88	0.43263	D	0.995207	P	0.36599	0.56	B	0.39217	0.294	T	0.60702	-0.7211	10	0.72032	D	0.01	.	20.0572	0.97657	0.0:1.0:0.0:0.0	.	79	Q8N9N7	LRC57_HUMAN	Y	79	ENSP00000326817:D79Y;ENSP00000380319:D79Y	ENSP00000326817:D79Y	D	-	1	0	LRRC57	40627008	0.943000	0.32029	1.000000	0.80357	0.995000	0.86356	3.032000	0.49736	2.826000	0.97356	0.655000	0.94253	GAT	.	.		0.403	LRRC57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253174.1	NM_153260	
TGM5	9333	hgsc.bcm.edu	37	15	43548802	43548802	+	Silent	SNP	C	C	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr15:43548802C>T	ENST00000220420.5	-	4	526	c.519G>A	c.(517-519)aaG>aaA	p.K173K	TGM5_ENST00000349114.4_Silent_p.K91K	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	173					cellular protein modification process (GO:0006464)|epidermis development (GO:0008544)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	GGATCCAGTTCTTGCTGCCTT	0.562																																					p.K173K		Atlas-SNP	.											.	TGM5	88	.	0			c.G519A						.						229.0	190.0	203.0					15																	43548802		2202	4299	6501	SO:0001819	synonymous_variant	9333	exon4			CCAGTTCTTGCTG	AF035960	CCDS32211.1, CCDS32212.1	15q15	2004-07-07				ENSG00000104055		"""Transglutaminases"""	11781	protein-coding gene	gene with protein product		603805				9452468, 11390390	Standard	NM_201631		Approved	TGX	uc001zrd.2	O43548		ENST00000220420.5:c.519G>A	chr15.hg19:g.43548802C>T		163.0	0.0		119.0	6.0	NM_201631	O43549|Q0VF40|Q9UEZ4	Silent	SNP	ENST00000220420.5	hg19	CCDS32212.1																																																																																			.	.		0.562	TGM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432257.1	NM_004245	
TUBGCP4	27229	hgsc.bcm.edu	37	15	43689513	43689513	+	Missense_Mutation	SNP	C	C	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr15:43689513C>T	ENST00000260383.7	+	12	1527	c.1273C>T	c.(1273-1275)Cac>Tac	p.H425Y	TUBGCP4_ENST00000399460.3_Missense_Mutation_p.H289Y|TUBGCP4_ENST00000564079.1_Missense_Mutation_p.H425Y			Q9UGJ1	GCP4_HUMAN	tubulin, gamma complex associated protein 4	425					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)|cytosol (GO:0005829)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|spindle pole (GO:0000922)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;3.53e-07)		CGGAAAGGAGCACAAAGGTTT	0.483																																					p.H425Y		Atlas-SNP	.											.	TUBGCP4	48	.	0			c.C1273T						.						139.0	136.0	137.0					15																	43689513		2063	4209	6272	SO:0001583	missense	27229	exon12			AAGGAGCACAAAG	AJ249677	CCDS42030.1, CCDS66745.1	15q15.3	2014-08-12			ENSG00000137822	ENSG00000137822			16691	protein-coding gene	gene with protein product		609610				10562286	Standard	NM_001286414		Approved	76P, FLJ14797	uc001zrn.3	Q9UGJ1	OTTHUMG00000176647	ENST00000260383.7:c.1273C>T	chr15.hg19:g.43689513C>T	ENSP00000260383:p.His425Tyr	134.0	0.0		70.0	4.0	NM_014444	B3KNK6|Q969X3|Q9NVF0	Missense_Mutation	SNP	ENST00000260383.7	hg19		.	.	.	.	.	.	.	.	.	.	C	11.97	1.797389	0.31777	.	.	ENSG00000137822	ENST00000260383;ENST00000399460	T;T	0.08193	3.12;3.12	5.11	5.11	0.69529	.	1.086800	0.06898	N	0.805435	T	0.06508	0.0167	N	0.03608	-0.345	0.35280	D	0.781275	B;B	0.22541	0.071;0.0	B;B	0.21708	0.036;0.001	T	0.43393	-0.9394	10	0.33940	T	0.23	-14.8412	18.0692	0.89400	0.0:1.0:0.0:0.0	.	425;425	Q9UGJ1;Q9UGJ1-2	GCP4_HUMAN;.	Y	425;289	ENSP00000260383:H425Y;ENSP00000382387:H289Y	ENSP00000260383:H425Y	H	+	1	0	TUBGCP4	41476805	0.999000	0.42202	0.670000	0.29842	0.968000	0.65278	2.319000	0.43788	2.816000	0.96949	0.563000	0.77884	CAC	.	.		0.483	TUBGCP4-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000432970.1	NM_014444	
SPG11	80208	hgsc.bcm.edu	37	15	44859730	44859730	+	Missense_Mutation	SNP	C	C	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr15:44859730C>T	ENST00000261866.7	-	36	6662	c.6646G>A	c.(6646-6648)Gaa>Aaa	p.E2216K	SPG11_ENST00000535302.2_Missense_Mutation_p.E2103K|SPG11_ENST00000427534.2_Missense_Mutation_p.E2216K	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	2216					cell death (GO:0008219)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		TTGTGCTTTTCACTGTCTCCA	0.517																																					p.E2216K		Atlas-SNP	.											.	SPG11	207	.	0			c.G6646A						.						90.0	79.0	82.0					15																	44859730		2198	4298	6496	SO:0001583	missense	80208	exon36			GCTTTTCACTGTC		CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"""spatacsin"""	610844	"""KIAA1840"""	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.6646G>A	chr15.hg19:g.44859730C>T	ENSP00000261866:p.Glu2216Lys	142.0	0.0		73.0	4.0	NM_025137	A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Missense_Mutation	SNP	ENST00000261866.7	hg19	CCDS10112.1	.	.	.	.	.	.	.	.	.	.	C	37	6.269070	0.97431	.	.	ENSG00000104133	ENST00000261866;ENST00000535302;ENST00000427534	D;T;D	0.82984	-1.67;-1.26;-1.52	6.14	6.14	0.99180	.	0.000000	0.85682	D	0.000000	D	0.91633	0.7356	M	0.76002	2.32	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.998;0.999;0.999	D	0.91082	0.4900	10	0.72032	D	0.01	.	20.819	0.99723	0.0:1.0:0.0:0.0	.	2216;2103;2216;2216	C4B7M2;F5H3N6;C4B7M4;Q96JI7	.;.;.;SPTCS_HUMAN	K	2216;2103;2216	ENSP00000261866:E2216K;ENSP00000445278:E2103K;ENSP00000396110:E2216K	ENSP00000261866:E2216K	E	-	1	0	SPG11	42647022	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.773000	0.85462	2.927000	0.99377	0.637000	0.83480	GAA	.	.		0.517	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253927.1		
SPG11	80208	hgsc.bcm.edu	37	15	44903081	44903081	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr15:44903081A>G	ENST00000261866.7	-	18	3264	c.3248T>C	c.(3247-3249)cTg>cCg	p.L1083P	SPG11_ENST00000535302.2_Missense_Mutation_p.L1083P|SPG11_ENST00000558319.1_Missense_Mutation_p.L1083P|SPG11_ENST00000427534.2_Missense_Mutation_p.L1083P	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	1083					cell death (GO:0008219)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		AGCAAGGGCCAGGAGGGTATG	0.433																																					p.L1083P		Atlas-SNP	.											.	SPG11	207	.	0			c.T3248C						.						126.0	109.0	114.0					15																	44903081		2198	4298	6496	SO:0001583	missense	80208	exon18			AGGGCCAGGAGGG		CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"""spatacsin"""	610844	"""KIAA1840"""	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.3248T>C	chr15.hg19:g.44903081A>G	ENSP00000261866:p.Leu1083Pro	116.0	0.0		95.0	5.0	NM_025137	A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Missense_Mutation	SNP	ENST00000261866.7	hg19	CCDS10112.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.119956	0.77323	.	.	ENSG00000104133	ENST00000261866;ENST00000535302;ENST00000427534	T;T;T	0.35789	1.29;1.29;1.29	5.58	5.58	0.84498	.	0.000000	0.64402	D	0.000009	T	0.60301	0.2258	M	0.74881	2.28	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.999	T	0.64516	-0.6389	10	0.72032	D	0.01	.	13.9677	0.64218	1.0:0.0:0.0:0.0	.	1083;1083;1083	C4B7M2;F5H3N6;Q96JI7	.;.;SPTCS_HUMAN	P	1083	ENSP00000261866:L1083P;ENSP00000445278:L1083P;ENSP00000396110:L1083P	ENSP00000261866:L1083P	L	-	2	0	SPG11	42690373	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.799000	0.85936	2.115000	0.64714	0.397000	0.26171	CTG	.	.		0.433	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253927.1		
DUOXA2	405753	hgsc.bcm.edu	37	15	45408394	45408394	+	Missense_Mutation	SNP	C	C	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr15:45408394C>T	ENST00000323030.5	+	3	563	c.278C>T	c.(277-279)gCg>gTg	p.A93V	DUOX2_ENST00000389039.6_5'Flank|DUOX2_ENST00000603300.1_5'Flank	NM_207581.3	NP_997464.2	Q1HG44	DOXA2_HUMAN	dual oxidase maturation factor 2	93					hydrogen peroxide metabolic process (GO:0042743)|protein transport (GO:0015031)|regulation of inflammatory response (GO:0050727)|regulation of thyroid hormone generation (GO:2000609)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)							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;2.88e-18)|GBM - Glioblastoma multiforme(94;3.95e-07)|COAD - Colon adenocarcinoma(120;0.0652)|Colorectal(133;0.0659)		TTCAGCGCAGCGCGCGTTACA	0.577																																					p.A93V		Atlas-SNP	.											.	DUOXA2	38	.	0			c.C278T						.						137.0	129.0	132.0					15																	45408394		2003	4152	6155	SO:0001583	missense	405753	exon3			GCGCAGCGCGCGT	BX537581	CCDS10118.2	15q21.1	2008-10-30		2006-07-25	ENSG00000140274	ENSG00000140274			32698	protein-coding gene	gene with protein product		612772				16651268	Standard	NM_207581		Approved		uc001zuo.3	Q1HG44	OTTHUMG00000131354	ENST00000323030.5:c.278C>T	chr15.hg19:g.45408394C>T	ENSP00000319705:p.Ala93Val	97.0	0.0		76.0	4.0	NM_207581	B2RPI9|H0YNQ6	Missense_Mutation	SNP	ENST00000323030.5	hg19	CCDS10118.2	.	.	.	.	.	.	.	.	.	.	C	8.786	0.929456	0.18131	.	.	ENSG00000140274	ENST00000323030	T	0.56611	0.45	5.38	-3.84	0.04256	.	0.412635	0.28262	N	0.015999	T	0.62208	0.2409	M	0.74258	2.255	0.09310	N	1	D	0.69078	0.997	P	0.55222	0.771	T	0.64495	-0.6394	10	0.38643	T	0.18	-1.2827	18.2262	0.89917	0.7357:0.2643:0.0:0.0	.	93	Q1HG44	DOXA2_HUMAN	V	93	ENSP00000319705:A93V	ENSP00000319705:A93V	A	+	2	0	DUOXA2	43195686	0.005000	0.15991	0.000000	0.03702	0.063000	0.16089	0.130000	0.15850	-1.136000	0.02892	-0.521000	0.04368	GCG	.	.		0.577	DUOXA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254142.1	NM_207581	
SLC24A5	283652	hgsc.bcm.edu	37	15	48413333	48413333	+	Missense_Mutation	SNP	C	C	A	rs201294244	byFrequency	TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr15:48413333C>A	ENST00000341459.3	+	1	165	c.92C>A	c.(91-93)tCc>tAc	p.S31Y	SLC24A5_ENST00000449382.2_Missense_Mutation_p.S31Y|SLC24A5_ENST00000482911.2_Missense_Mutation_p.S31Y	NM_205850.2	NP_995322.1	Q71RS6	NCKX5_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 5	31					ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|negative regulation of melanin biosynthetic process (GO:0048022)|response to stimulus (GO:0050896)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|skin(1)|upper_aerodigestive_tract(1)	27		all_lung(180;0.00217)		all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07)		TCAGGGACCTCCCTGCCCCAA	0.587																																					p.S31Y		Atlas-SNP	.											.	SLC24A5	64	.	0			c.C92A						.						59.0	51.0	54.0					15																	48413333		2198	4297	6495	SO:0001583	missense	283652	exon1			GGACCTCCCTGCC	AF348468	CCDS10128.1	15q21.1	2014-01-28	2013-07-18		ENSG00000188467	ENSG00000188467		"""Solute carriers"""	20611	protein-coding gene	gene with protein product	"""oculocutaneous albinism 6 (autosomal recessive)"""	609802	"""solute carrier family 24, member 5"""			23364476	Standard	XM_005254308		Approved	JSX, OCA6	uc001zwe.3	Q71RS6	OTTHUMG00000131494	ENST00000341459.3:c.92C>A	chr15.hg19:g.48413333C>A	ENSP00000341550:p.Ser31Tyr	60.0	0.0		55.0	4.0	NM_205850	A5X8Z8|A5X8Z9|Q14CT4|Q6DKH3	Missense_Mutation	SNP	ENST00000341459.3	hg19	CCDS10128.1	.	.	.	.	.	.	.	.	.	.	C	13.33	2.205027	0.38905	.	.	ENSG00000188467	ENST00000341459;ENST00000449382	T;T	0.75477	-0.93;-0.94	5.38	4.46	0.54185	.	0.255835	0.28393	N	0.015509	T	0.61726	0.2370	N	0.14661	0.345	0.09310	N	1	P;B;P	0.46277	0.454;0.278;0.875	B;B;P	0.44647	0.276;0.088;0.456	T	0.58429	-0.7638	10	0.62326	D	0.03	.	11.5957	0.50972	0.0:0.9164:0.0:0.0836	.	31;31;31	A5X8Z9;Q71RS6;A5X8Z8	.;NCKX5_HUMAN;.	Y	31	ENSP00000341550:S31Y;ENSP00000389966:S31Y	ENSP00000341550:S31Y	S	+	2	0	SLC24A5	46200625	0.036000	0.19791	0.895000	0.35142	0.097000	0.18754	2.171000	0.42453	1.488000	0.48433	0.655000	0.94253	TCC	.	C|0.999;T|0.001		0.587	SLC24A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254340.2	NM_205850	
DMXL2	23312	hgsc.bcm.edu	37	15	51766616	51766616	+	Silent	SNP	G	G	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr15:51766616G>T	ENST00000251076.5	-	28	7422	c.7135C>A	c.(7135-7137)Cga>Aga	p.R2379R	RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000449909.3_Silent_p.R1743R|DMXL2_ENST00000543779.2_Silent_p.R2380R	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2379						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)	p.R2379*(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		GCCCACATTCGATTATTTAAT	0.388																																					p.R2380R		Atlas-SNP	.											DMXL2,colon,carcinoma,+1,1	DMXL2	262	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C7138A						.						54.0	56.0	55.0					15																	51766616		2196	4293	6489	SO:0001819	synonymous_variant	23312	exon28			ACATTCGATTATT	AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"""WD repeat domain containing"""	2938	protein-coding gene	gene with protein product	"""rabconnectin 3"""	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.7135C>A	chr15.hg19:g.51766616G>T		125.0	2.0		84.0	4.0	NM_001174116	B2RTR3|B7ZMH3|F5GWF1|O94938	Silent	SNP	ENST00000251076.5	hg19	CCDS10141.1																																																																																			.	.		0.388	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	NM_015263	
MYO5C	55930	hgsc.bcm.edu	37	15	52540902	52540902	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr15:52540902T>C	ENST00000261839.7	-	14	1902	c.1741A>G	c.(1741-1743)Agc>Ggc	p.S581G	MYO5C_ENST00000443683.2_3'UTR	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	581	Myosin motor.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		CAGACCTTGCTTGCTCTCAGG	0.378																																					p.S581G		Atlas-SNP	.											.	MYO5C	162	.	0			c.A1741G						.						111.0	105.0	107.0					15																	52540902		1854	4089	5943	SO:0001583	missense	55930	exon14			CCTTGCTTGCTCT	AF272390	CCDS42036.1	15q21	2011-09-27				ENSG00000128833		"""Myosins / Myosin superfamily : Class V"""	7604	protein-coding gene	gene with protein product	"""myosin 5C"""	610022				11870218	Standard	NM_018728		Approved	MGC74969	uc010bff.3	Q9NQX4		ENST00000261839.7:c.1741A>G	chr15.hg19:g.52540902T>C	ENSP00000261839:p.Ser581Gly	179.0	0.0		94.0	6.0	NM_018728	Q6P1W8	Missense_Mutation	SNP	ENST00000261839.7	hg19	CCDS42036.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.617376	0.87359	.	.	ENSG00000128833	ENST00000261839	D	0.97455	-4.39	5.48	5.48	0.80851	Myosin head, motor domain (2);	0.083812	0.85682	D	0.000000	D	0.98311	0.9440	M	0.93106	3.38	0.80722	D	1	D	0.54207	0.965	P	0.53912	0.737	D	0.99097	1.0842	10	0.66056	D	0.02	.	15.6198	0.76796	0.0:0.0:0.0:1.0	.	581	Q9NQX4	MYO5C_HUMAN	G	581	ENSP00000261839:S581G	ENSP00000261839:S581G	S	-	1	0	MYO5C	50328194	1.000000	0.71417	0.994000	0.49952	0.979000	0.70002	5.983000	0.70540	2.097000	0.63578	0.454000	0.30748	AGC	.	.		0.378	MYO5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419562.1	NM_018728	
WDR72	256764	hgsc.bcm.edu	37	15	54003136	54003136	+	Missense_Mutation	SNP	C	C	T	rs374482757		TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr15:54003136C>T	ENST00000396328.1	-	9	1111	c.872G>A	c.(871-873)aGc>aAc	p.S291N	WDR72_ENST00000360509.5_Missense_Mutation_p.S291N|WDR72_ENST00000559418.1_Missense_Mutation_p.S303N|WDR72_ENST00000557913.1_Missense_Mutation_p.S290N	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	291										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		AGGGTATATGCTTTTTGAAAG	0.388																																					p.S291N		Atlas-SNP	.											.	WDR72	177	.	0			c.G872A						.	C	ASN/SER	2,4386	4.2+/-10.8	0,2,2192	110.0	100.0	104.0		872	5.6	1.0	15		104	0,8586		0,0,4293	no	missense	WDR72	NM_182758.2	46	0,2,6485	TT,TC,CC		0.0,0.0456,0.0154	benign	291/1103	54003136	2,12972	2194	4293	6487	SO:0001583	missense	256764	exon9			TATATGCTTTTTG	BX537884	CCDS10151.1, CCDS73730.1	15q21.3	2013-01-09			ENSG00000166415	ENSG00000166415		"""WD repeat domain containing"""	26790	protein-coding gene	gene with protein product		613214					Standard	NM_182758		Approved	FLJ38736	uc002acj.2	Q3MJ13	OTTHUMG00000131939	ENST00000396328.1:c.872G>A	chr15.hg19:g.54003136C>T	ENSP00000379619:p.Ser291Asn	47.0	0.0		52.0	4.0	NM_182758	Q7Z3I3|Q8N8X2	Missense_Mutation	SNP	ENST00000396328.1	hg19	CCDS10151.1	.	.	.	.	.	.	.	.	.	.	C	12.54	1.969668	0.34754	4.56E-4	0.0	ENSG00000166415	ENST00000396328;ENST00000360509	T;T	0.55052	0.54;0.54	5.58	5.58	0.84498	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.108147	0.64402	D	0.000004	T	0.45617	0.1351	L	0.44542	1.39	0.31561	N	0.657464	P	0.47106	0.89	B	0.37943	0.261	T	0.53019	-0.8497	10	0.27785	T	0.31	.	18.9191	0.92518	0.0:1.0:0.0:0.0	.	291	Q3MJ13	WDR72_HUMAN	N	291	ENSP00000379619:S291N;ENSP00000353699:S291N	ENSP00000353699:S291N	S	-	2	0	WDR72	51790428	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	5.017000	0.64047	2.778000	0.95560	0.655000	0.94253	AGC	.	.		0.388	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254893.2	NM_182758	
CCNB2	9133	hgsc.bcm.edu	37	15	59409529	59409529	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr15:59409529T>C	ENST00000288207.2	+	7	1128	c.937T>C	c.(937-939)Tcc>Ccc	p.S313P	CCNB2_ENST00000559622.1_Intron	NM_004701.3	NP_004692.1	O95067	CCNB2_HUMAN	cyclin B2	313					G2/M transition of mitotic cell cycle (GO:0000086)|growth (GO:0040007)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)				kidney(4)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	9						AGCAGCTGCTTCCTGCTTGTC	0.403																																					p.S313P		Atlas-SNP	.											.	CCNB2	23	.	0			c.T937C						.						111.0	101.0	105.0					15																	59409529		2191	4291	6482	SO:0001583	missense	9133	exon7			GCTGCTTCCTGCT	AF002822	CCDS10170.1	15q21.3	2004-01-19			ENSG00000157456	ENSG00000157456			1580	protein-coding gene	gene with protein product		602755					Standard	NM_004701		Approved	HsT17299	uc002afz.3	O95067	OTTHUMG00000132715	ENST00000288207.2:c.937T>C	chr15.hg19:g.59409529T>C	ENSP00000288207:p.Ser313Pro	111.0	0.0		64.0	4.0	NM_004701	B3KM93|Q6FI99	Missense_Mutation	SNP	ENST00000288207.2	hg19	CCDS10170.1	.	.	.	.	.	.	.	.	.	.	T	22.3	4.272716	0.80580	.	.	ENSG00000157456	ENST00000288207	T	0.21932	1.98	5.45	5.45	0.79879	Cyclin, C-terminal (1);Cyclin-like (3);	0.094304	0.56097	D	0.000021	T	0.31358	0.0794	L	0.55481	1.735	0.80722	D	1	P	0.51537	0.946	P	0.56163	0.793	T	0.08973	-1.0696	10	0.72032	D	0.01	.	6.4997	0.22162	0.0:0.1734:0.0:0.8266	.	313	O95067	CCNB2_HUMAN	P	313	ENSP00000288207:S313P	ENSP00000288207:S313P	S	+	1	0	CCNB2	57196821	0.996000	0.38824	0.845000	0.33349	0.995000	0.86356	3.038000	0.49783	2.065000	0.61736	0.533000	0.62120	TCC	.	.		0.403	CCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256016.1	NM_004701	
ICE2	79664	hgsc.bcm.edu	37	15	60720770	60720770	+	Missense_Mutation	SNP	C	C	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr15:60720770C>T	ENST00000261520.4	-	15	2912	c.2678G>A	c.(2677-2679)tGc>tAc	p.C893Y	NARG2_ENST00000439632.1_Missense_Mutation_p.C756Y	NM_024611.4	NP_078887.2														breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						AGGAAGGCCGCAATGTGTTTT	0.418																																					p.C893Y		Atlas-SNP	.											.	NARG2	82	.	0			c.G2678A						.						84.0	81.0	82.0					15																	60720770		2203	4300	6503	SO:0001583	missense	79664	exon15			AGGCCGCAATGTG																												ENST00000261520.4:c.2678G>A	chr15.hg19:g.60720770C>T	ENSP00000261520:p.Cys893Tyr	155.0	0.0		96.0	4.0	NM_024611		Missense_Mutation	SNP	ENST00000261520.4	hg19	CCDS10176.1	.	.	.	.	.	.	.	.	.	.	C	15.02	2.709978	0.48517	.	.	ENSG00000128915	ENST00000261520;ENST00000439632	.	.	.	5.96	4.06	0.47325	NMDA receptor-regulated gene protein 2 (1);	0.420659	0.29551	N	0.011823	T	0.42787	0.1218	L	0.53249	1.67	0.09310	N	1	B	0.18461	0.028	B	0.19666	0.026	T	0.42882	-0.9425	9	0.72032	D	0.01	-0.1891	9.7395	0.40409	0.0:0.6664:0.2634:0.0701	.	893	Q659A1	NARG2_HUMAN	Y	893;756	.	ENSP00000261520:C893Y	C	-	2	0	NARG2	58508062	0.007000	0.16637	0.001000	0.08648	0.826000	0.46750	1.194000	0.32174	0.834000	0.34852	0.650000	0.86243	TGC	.	.		0.418	NARG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256136.1		
VPS13C	54832	hgsc.bcm.edu	37	15	62352482	62352482	+	Missense_Mutation	SNP	A	A	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr15:62352482A>C	ENST00000261517.5	-	1	165	c.92T>G	c.(91-93)aTc>aGc	p.I31S	VPS13C_ENST00000249837.3_Missense_Mutation_p.I31S|RP11-643M14.1_ENST00000560813.2_RNA|VPS13C_ENST00000395898.3_Missense_Mutation_p.I31S|VPS13C_ENST00000395896.4_Missense_Mutation_p.I31S|RP11-643M14.1_ENST00000558368.2_RNA	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						ACCGCCCCAGATGCCCAGCTT	0.687																																					p.I31S		Atlas-SNP	.											.	VPS13C	506	.	0			c.T92G						.						28.0	27.0	28.0					15																	62352482		2203	4300	6503	SO:0001583	missense	54832	exon1			CCCCAGATGCCCA	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.92T>G	chr15.hg19:g.62352482A>C	ENSP00000261517:p.Ile31Ser	84.0	0.0		50.0	15.0	NM_020821		Missense_Mutation	SNP	ENST00000261517.5	hg19	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.159036	0.78226	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	D;D;D;D	0.84800	-1.9;-1.9;-1.9;-1.9	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	D	0.91633	0.7356	M	0.84082	2.675	0.80722	D	1	P;P;P;P	0.48503	0.821;0.891;0.821;0.911	P;P;P;D	0.63793	0.697;0.867;0.697;0.918	D	0.92630	0.6115	10	0.87932	D	0	.	12.1476	0.54031	1.0:0.0:0.0:0.0	.	31;31;31;31	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	S	31	ENSP00000249837:I31S;ENSP00000261517:I31S;ENSP00000379233:I31S;ENSP00000379235:I31S	ENSP00000249837:I31S	I	-	2	0	VPS13C	60139774	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.620000	0.67736	1.965000	0.57142	0.533000	0.62120	ATC	.	.		0.687	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684	
USP3	9960	hgsc.bcm.edu	37	15	63850378	63850378	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr15:63850378A>G	ENST00000380324.3	+	6	653	c.524A>G	c.(523-525)cAg>cGg	p.Q175R	USP3_ENST00000536001.1_Intron|USP3-AS1_ENST00000559357.1_RNA|USP3_ENST00000559711.1_Missense_Mutation_p.Q86R|USP3-AS1_ENST00000559861.1_RNA|USP3_ENST00000540797.1_Missense_Mutation_p.Q131R|USP3_ENST00000558285.1_Missense_Mutation_p.Q158R|USP3-AS1_ENST00000560067.1_RNA|USP3_ENST00000268049.7_Missense_Mutation_p.Q153R|USP3_ENST00000539772.1_Intron|USP3-AS1_ENST00000560350.1_RNA	NM_006537.3	NP_006528.2	Q9Y6I4	UBP3_HUMAN	ubiquitin specific peptidase 3	175	USP.				DNA repair (GO:0006281)|histone deubiquitination (GO:0016578)|mitotic cell cycle (GO:0000278)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	nuclear chromatin (GO:0000790)	histone binding (GO:0042393)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(7)|lung(4)	14				GBM - Glioblastoma multiforme(80;0.0187)		GCCATCCTTCAGTCACTCAGG	0.498																																					p.Q175R		Atlas-SNP	.											.	USP3	37	.	0			c.A524G						.						140.0	113.0	122.0					15																	63850378		2203	4300	6503	SO:0001583	missense	9960	exon6			TCCTTCAGTCACT	AF073344	CCDS32265.1, CCDS58370.1	15q22.3	2008-04-11	2005-08-08			ENSG00000140455		"""Ubiquitin-specific peptidases"""	12626	protein-coding gene	gene with protein product		604728	"""ubiquitin specific protease 3"""			12838346	Standard	NM_006537		Approved		uc002amf.4	Q9Y6I4		ENST00000380324.3:c.524A>G	chr15.hg19:g.63850378A>G	ENSP00000369681:p.Gln175Arg	119.0	0.0		56.0	4.0	NM_006537	B4DVU5|F5H1A6|Q8WVD0	Missense_Mutation	SNP	ENST00000380324.3	hg19	CCDS32265.1	.	.	.	.	.	.	.	.	.	.	A	26.1	4.708253	0.89018	.	.	ENSG00000140455	ENST00000540797;ENST00000380324;ENST00000268049;ENST00000536848;ENST00000538686	T;T;T	0.09723	2.95;2.95;2.95	5.79	5.79	0.91817	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2, conserved site (1);Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.48696	0.1514	H	0.98068	4.14	0.80722	D	1	D;D;D;D	0.69078	0.996;0.997;0.997;0.994	D;D;D;D	0.66979	0.913;0.948;0.948;0.948	T	0.68394	-0.5420	10	0.87932	D	0	.	14.6892	0.69072	1.0:0.0:0.0:0.0	.	131;131;153;175	F5H1A6;B4DVU5;Q6JHV3;Q9Y6I4	.;.;.;UBP3_HUMAN	R	131;175;153;90;6	ENSP00000445828:Q131R;ENSP00000369681:Q175R;ENSP00000268049:Q153R	ENSP00000268049:Q153R	Q	+	2	0	USP3	61637431	1.000000	0.71417	1.000000	0.80357	0.732000	0.41865	9.331000	0.96430	2.205000	0.71048	0.528000	0.53228	CAG	.	.		0.498	USP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417773.1		
HERC1	8925	hgsc.bcm.edu	37	15	64047472	64047472	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr15:64047472T>C	ENST00000443617.2	-	6	1673	c.1586A>G	c.(1585-1587)gAt>gGt	p.D529G		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	529					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TAATTCCCCATCCTCTGTGAC	0.353																																					p.D529G		Atlas-SNP	.											.	HERC1	624	.	0			c.A1586G						.						97.0	90.0	92.0					15																	64047472		1959	4138	6097	SO:0001583	missense	8925	exon6			TCCCCATCCTCTG	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.1586A>G	chr15.hg19:g.64047472T>C	ENSP00000390158:p.Asp529Gly	149.0	0.0		75.0	4.0	NM_003922	Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	hg19	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	T	29.9	5.044435	0.93685	.	.	ENSG00000103657	ENST00000443617	D	0.89196	-2.48	5.97	5.97	0.96955	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	U	0.000000	D	0.93657	0.7974	M	0.69463	2.115	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.79784	0.993;0.993	D	0.94023	0.7294	10	0.66056	D	0.02	.	16.1343	0.81471	0.0:0.0:0.0:1.0	.	529;529	C9JUT5;Q15751	.;HERC1_HUMAN	G	529	ENSP00000390158:D529G	ENSP00000390158:D529G	D	-	2	0	HERC1	61834525	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	6.276000	0.72601	2.288000	0.76882	0.533000	0.62120	GAT	.	.		0.353	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922	
CILP	8483	hgsc.bcm.edu	37	15	65490900	65490900	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr15:65490900T>C	ENST00000261883.4	-	9	1890	c.1724A>G	c.(1723-1725)aAg>aGg	p.K575R		NM_003613.3	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	575			K -> E (in dbSNP:rs2679118). {ECO:0000269|PubMed:10319588, ECO:0000269|PubMed:10601732, ECO:0000269|PubMed:12975309, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:9722584}.		negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						AGTGATGGGCTTTTTCCGACG	0.512																																					p.K575R		Atlas-SNP	.											.	CILP	124	.	0			c.A1724G						.						72.0	65.0	67.0					15																	65490900		2202	4299	6501	SO:0001583	missense	8483	exon9			ATGGGCTTTTTCC	AY358904	CCDS10203.1	15q22	2013-01-14			ENSG00000138615	ENSG00000138615		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1980	protein-coding gene	gene with protein product		603489				9722584, 9722583	Standard	NM_003613		Approved	HsT18872	uc002aon.2	O75339	OTTHUMG00000133140	ENST00000261883.4:c.1724A>G	chr15.hg19:g.65490900T>C	ENSP00000261883:p.Lys575Arg	126.0	0.0		77.0	4.0	NM_003613	B2R8F7|Q6UW99|Q8IYI5	Missense_Mutation	SNP	ENST00000261883.4	hg19	CCDS10203.1	.	.	.	.	.	.	.	.	.	.	T	0.378	-0.930194	0.02359	.	.	ENSG00000138615	ENST00000261883	T	0.40756	1.02	5.63	3.13	0.36017	.	0.653399	0.16048	N	0.232119	T	0.24122	0.0584	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.19811	-1.0294	10	0.51188	T	0.08	-12.4177	12.5426	0.56179	0.0:0.0:0.2165:0.7835	.	575	O75339	CILP1_HUMAN	R	575	ENSP00000261883:K575R	ENSP00000261883:K575R	K	-	2	0	CILP	63277953	0.646000	0.27295	1.000000	0.80357	0.093000	0.18481	1.662000	0.37418	2.145000	0.66743	0.533000	0.62120	AAG	.	.		0.512	CILP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256829.1	NM_003613	
ZWILCH	55055	hgsc.bcm.edu	37	15	66820213	66820213	+	Missense_Mutation	SNP	G	G	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr15:66820213G>T	ENST00000307897.5	+	10	1312	c.932G>T	c.(931-933)gGa>gTa	p.G311V	ZWILCH_ENST00000535141.2_Missense_Mutation_p.G197V|ZWILCH_ENST00000565627.1_Missense_Mutation_p.G197V|ZWILCH_ENST00000446801.2_Missense_Mutation_p.G197V	NM_017975.3	NP_060445.3	Q9H900	ZWILC_HUMAN	zwilch kinetochore protein	311					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|kinetochore (GO:0000776)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(1)|lung(6)|ovary(1)	18						AAGCTGGATGGATTTGGTGAT	0.308																																					p.G311V		Atlas-SNP	.											.	ZWILCH	46	.	0			c.G932T						.						81.0	81.0	81.0					15																	66820213		2201	4299	6500	SO:0001583	missense	55055	exon10			TGGATGGATTTGG	AK023175	CCDS10219.1, CCDS73746.1	15q22.31	2013-01-17	2012-12-13		ENSG00000174442	ENSG00000174442			25468	protein-coding gene	gene with protein product		609984	"""Zwilch, kinetochore associated, homolog (Drosophila)"""			12686595	Standard	NM_017975		Approved	FLJ10036, KNTC1AP	uc002aqb.3	Q9H900	OTTHUMG00000133194	ENST00000307897.5:c.932G>T	chr15.hg19:g.66820213G>T	ENSP00000311429:p.Gly311Val	183.0	0.0		122.0	5.0	NM_017975	B3KVB8|Q6N049|Q8N404|Q96SY7|Q9NWG7	Missense_Mutation	SNP	ENST00000307897.5	hg19	CCDS10219.1	.	.	.	.	.	.	.	.	.	.	G	17.55	3.416844	0.62511	.	.	ENSG00000174442	ENST00000307897;ENST00000446801;ENST00000535141	T;T;T	0.44482	0.92;0.92;0.92	5.96	0.645	0.17782	.	0.422728	0.27739	N	0.018057	T	0.48484	0.1502	L	0.50333	1.59	0.58432	D	0.999999	D	0.67145	0.996	D	0.67725	0.953	T	0.41378	-0.9512	10	0.62326	D	0.03	-4.5524	4.5931	0.12317	0.3601:0.1525:0.4873:0.0	.	311	Q9H900	ZWILC_HUMAN	V	311;197;197	ENSP00000311429:G311V;ENSP00000402217:G197V;ENSP00000437749:G197V	ENSP00000311429:G311V	G	+	2	0	ZWILCH	64607267	0.999000	0.42202	0.994000	0.49952	0.998000	0.95712	0.207000	0.17395	-0.121000	0.11787	0.655000	0.94253	GGA	.	.		0.308	ZWILCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256904.4	NM_017975	
HEXA	3073	hgsc.bcm.edu	37	15	72643538	72643538	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr15:72643538C>T	ENST00000268097.5	-	6	1111	c.608G>A	c.(607-609)tGg>tAg	p.W203*	RP11-106M3.3_ENST00000570175.1_RNA|HEXA_ENST00000567159.1_Nonsense_Mutation_p.W203*|HEXA_ENST00000457859.2_Nonsense_Mutation_p.W11*|HEXA_ENST00000429918.2_Nonsense_Mutation_p.W30*|RP11-106M3.2_ENST00000379915.4_RNA|HEXA_ENST00000566304.1_Nonsense_Mutation_p.W214*	NM_000520.4	NP_000511.2	P06865	HEXA_HUMAN	hexosaminidase A (alpha polypeptide)	203					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	beta-N-acetylhexosaminidase activity (GO:0004563)|protein heterodimerization activity (GO:0046982)			breast(2)|cervix(1)|endometrium(3)|kidney(3)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	24						TACCAGATGCCAGTGGAACAC	0.458																																					p.W203X		Atlas-SNP	.											.	HEXA	48	.	0			c.G608A						.						172.0	143.0	153.0					15																	72643538		2199	4297	6496	SO:0001587	stop_gained	3073	exon6			AGATGCCAGTGGA	M13520	CCDS10243.1	15q24.1	2012-10-02			ENSG00000213614	ENSG00000213614	3.2.1.52		4878	protein-coding gene	gene with protein product	"""Tay Sachs disease"", ""GM2 gangliosidosis"""	606869				2952641, 3013851	Standard	NM_000520		Approved		uc002aun.4	P06865	OTTHUMG00000133445	ENST00000268097.5:c.608G>A	chr15.hg19:g.72643538C>T	ENSP00000268097:p.Trp203*	108.0	0.0		82.0	4.0	NM_000520	B4DKE7|E7ENH7|Q53HS8|Q6AI32	Nonsense_Mutation	SNP	ENST00000268097.5	hg19	CCDS10243.1	.	.	.	.	.	.	.	.	.	.	C	30	5.056859	0.93793	.	.	ENSG00000213614	ENST00000268097;ENST00000457859;ENST00000429918	.	.	.	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.7567	20.0119	0.97458	0.0:1.0:0.0:0.0	.	.	.	.	X	203;11;30	.	ENSP00000268097:W203X	W	-	2	0	HEXA	70430592	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.721000	0.84768	2.706000	0.92434	0.655000	0.94253	TGG	.	.		0.458	HEXA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257317.2	NM_000520	
NEO1	4756	hgsc.bcm.edu	37	15	73418904	73418904	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr15:73418904A>G	ENST00000339362.5	+	5	1318	c.871A>G	c.(871-873)Aca>Gca	p.T291A	NEO1_ENST00000261908.6_Missense_Mutation_p.T291A|NEO1_ENST00000558964.1_Missense_Mutation_p.T291A|NEO1_ENST00000560262.1_Missense_Mutation_p.T291A			Q92859	NEO1_HUMAN	neogenin 1	291	Ig-like C2-type 3.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|iron ion homeostasis (GO:0055072)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of transcription, DNA-templated (GO:0006355)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						GGCACTTGACACAGAAAGGTA	0.403																																					p.T291A		Atlas-SNP	.											.	NEO1	102	.	0			c.A871G						.						124.0	95.0	104.0					15																	73418904		2198	4297	6495	SO:0001583	missense	4756	exon4			CTTGACACAGAAA	U61262	CCDS10247.1, CCDS53957.1, CCDS58378.1	15q22.3-q23	2014-06-20	2010-06-24		ENSG00000067141	ENSG00000067141		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7754	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 2"""	601907	"""neogenin (chicken) homolog 1"""			9121761	Standard	NM_002499		Approved	NGN, HsT17534, IGDCC2, NTN1R2	uc002avm.4	Q92859	OTTHUMG00000133509	ENST00000339362.5:c.871A>G	chr15.hg19:g.73418904A>G	ENSP00000341198:p.Thr291Ala	128.0	0.0		96.0	4.0	NM_001172623	B7ZKM9|B7ZKN0|O00340|Q17RX1	Missense_Mutation	SNP	ENST00000339362.5	hg19	CCDS10247.1	.	.	.	.	.	.	.	.	.	.	A	3.455	-0.111268	0.06881	.	.	ENSG00000067141	ENST00000339362;ENST00000379842;ENST00000261908	T;T	0.66460	-0.21;-0.21	5.37	1.41	0.22369	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.265014	0.31797	N	0.007052	T	0.44052	0.1275	L	0.28274	0.84	0.36560	D	0.872346	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.001;0.002;0.002	T	0.28713	-1.0035	10	0.08599	T	0.76	0.4203	7.0283	0.24952	0.6083:0.249:0.1427:0.0	.	291;291;291	B7ZKM9;B7ZKN0;Q92859	.;.;NEO1_HUMAN	A	291;9;291	ENSP00000341198:T291A;ENSP00000261908:T291A	ENSP00000261908:T291A	T	+	1	0	NEO1	71205957	0.546000	0.26457	0.949000	0.38748	0.311000	0.27955	1.527000	0.35975	0.346000	0.23899	0.383000	0.25322	ACA	.	.		0.403	NEO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257472.2	NM_002499	
LOXL1	4016	hgsc.bcm.edu	37	15	74239486	74239486	+	Silent	SNP	C	C	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr15:74239486C>T	ENST00000261921.7	+	4	1754	c.1428C>T	c.(1426-1428)caC>caT	p.H476H		NM_005576.2	NP_005567.2	Q08397	LOXL1_HUMAN	lysyl oxidase-like 1	476	Lysyl-oxidase like.				extracellular matrix organization (GO:0030198)|oxidation-reduction process (GO:0055114)|protein deamination (GO:0018277)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	copper ion binding (GO:0005507)|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor (GO:0016641)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10						CCGAGGGCCACAAGGCCAGTT	0.582																																					p.H476H		Atlas-SNP	.											.	LOXL1	25	.	0			c.C1428T						.						81.0	71.0	75.0					15																	74239486		2198	4297	6495	SO:0001819	synonymous_variant	4016	exon4			GGGCCACAAGGCC	L21186	CCDS10253.1	15q24-q25	2008-07-18			ENSG00000129038	ENSG00000129038			6665	protein-coding gene	gene with protein product		153456				7689553	Standard	NM_005576		Approved	LOXL, LOL	uc002awc.1	Q08397	OTTHUMG00000137595	ENST00000261921.7:c.1428C>T	chr15.hg19:g.74239486C>T		128.0	0.0		81.0	4.0	NM_005576	Q6NUL3|Q96BW7	Silent	SNP	ENST00000261921.7	hg19	CCDS10253.1																																																																																			.	.		0.582	LOXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268995.2	NM_005576	
ISLR	3671	hgsc.bcm.edu	37	15	74467702	74467702	+	Missense_Mutation	SNP	C	C	T	rs371808969		TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr15:74467702C>T	ENST00000249842.3	+	2	860	c.503C>T	c.(502-504)cCg>cTg	p.P168L	ISLR_ENST00000395118.1_Missense_Mutation_p.P168L|RP11-665J16.1_ENST00000561647.1_RNA	NM_005545.3	NP_005536.1	O14498	ISLR_HUMAN	immunoglobulin superfamily containing leucine-rich repeat	168					cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						ACCTTCACCCCGCTCACCGCG	0.652																																					p.P168L		Atlas-SNP	.											ISLR,colon,carcinoma,0,1	ISLR	49	.	0			c.C503T						.						65.0	61.0	62.0					15																	74467702		2198	4297	6495	SO:0001583	missense	3671	exon2			TCACCCCGCTCAC	AB003184	CCDS10260.1	15q23-q24	2013-01-11			ENSG00000129009	ENSG00000129009		"""Immunoglobulin superfamily / I-set domain containing"""	6133	protein-coding gene	gene with protein product		602059				9325048	Standard	NM_005545		Approved	HsT17563	uc002axh.1	O14498	OTTHUMG00000137623	ENST00000249842.3:c.503C>T	chr15.hg19:g.74467702C>T	ENSP00000249842:p.Pro168Leu	52.0	0.0		40.0	3.0	NM_201526		Missense_Mutation	SNP	ENST00000249842.3	hg19	CCDS10260.1	.	.	.	.	.	.	.	.	.	.	C	8.265	0.812003	0.16537	.	.	ENSG00000129009	ENST00000249842;ENST00000395118	T;T	0.57107	0.42;0.42	4.05	3.05	0.35203	.	0.419473	0.18821	U	0.130246	T	0.40595	0.1123	L	0.28556	0.865	0.09310	N	0.999998	D	0.53151	0.958	B	0.41299	0.353	T	0.31724	-0.9933	10	0.30078	T	0.28	.	15.6641	0.77213	0.0:0.7645:0.2355:0.0	.	168	O14498	ISLR_HUMAN	L	168	ENSP00000249842:P168L;ENSP00000378550:P168L	ENSP00000249842:P168L	P	+	2	0	ISLR	72254755	0.000000	0.05858	0.093000	0.20910	0.108000	0.19459	0.756000	0.26419	1.822000	0.53115	0.313000	0.20887	CCG	.	.		0.652	ISLR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269044.1	NM_005545	
SEMA7A	8482	hgsc.bcm.edu	37	15	74710280	74710280	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr15:74710280T>C	ENST00000261918.4	-	4	951	c.403A>G	c.(403-405)Agg>Ggg	p.R135G	SEMA7A_ENST00000542748.1_5'UTR|SEMA7A_ENST00000543145.2_Missense_Mutation_p.R121G	NM_003612.3	NP_003603.1	O75326	SEM7A_HUMAN	semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group)	135	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon extension (GO:0048675)|axon guidance (GO:0007411)|immune response (GO:0006955)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|olfactory lobe development (GO:0021988)|osteoblast differentiation (GO:0001649)|positive regulation of axon extension (GO:0045773)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of protein phosphorylation (GO:0001934)|regulation of inflammatory response (GO:0050727)	anchored component of membrane (GO:0031225)|external side of plasma membrane (GO:0009897)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	30						TCACTCCGCCTCTCCAGGAGA	0.622																																					p.R135G		Atlas-SNP	.											.	SEMA7A	58	.	0			c.A403G						.						44.0	54.0	50.0					15																	74710280		2197	4296	6493	SO:0001583	missense	8482	exon4			TCCGCCTCTCCAG	AF069493	CCDS10262.1, CCDS53958.1, CCDS53959.1	15q22.3-q23	2014-07-18	2006-02-23		ENSG00000138623	ENSG00000138623		"""Semaphorins"", ""CD molecules"", ""Blood group antigens"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10741	protein-coding gene	gene with protein product	"""John Milton Hagen blood group"", ""H-Sema K1"""	607961	"""sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, (semaphorin) 7A"", ""sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, (semaphorin) 7A (JMH blood group)"""	SEMAL		9721204	Standard	NM_003612		Approved	H-Sema-L, CD108	uc002axv.3	O75326	OTTHUMG00000139000	ENST00000261918.4:c.403A>G	chr15.hg19:g.74710280T>C	ENSP00000261918:p.Arg135Gly	110.0	0.0		74.0	4.0	NM_003612	B4DDP7|F5H1S0|Q1XE81|Q1XE82|Q1XE83|Q1XE84|Q3MIY5	Missense_Mutation	SNP	ENST00000261918.4	hg19	CCDS10262.1	.	.	.	.	.	.	.	.	.	.	T	12.00	1.805385	0.31961	.	.	ENSG00000138623	ENST00000261918;ENST00000543145	T;T	0.11063	2.81;2.81	4.84	2.35	0.29111	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.748097	0.12308	N	0.480519	T	0.09423	0.0232	L	0.35542	1.07	0.46564	D	0.999102	B;B	0.11235	0.004;0.002	B;B	0.09377	0.003;0.004	T	0.09640	-1.0665	10	0.49607	T	0.09	-2.5475	9.9496	0.41631	0.0:0.0:0.3307:0.6693	.	121;135	F5H1S0;O75326	.;SEM7A_HUMAN	G	135;121	ENSP00000261918:R135G;ENSP00000438966:R121G	ENSP00000261918:R135G	R	-	1	2	SEMA7A	72497333	0.096000	0.21769	0.301000	0.25044	0.993000	0.82548	1.889000	0.39718	0.283000	0.22279	0.402000	0.26972	AGG	.	.		0.622	SEMA7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272904.3	NM_003612	
FBXO22	26263	hgsc.bcm.edu	37	15	76206465	76206465	+	Missense_Mutation	SNP	A	A	G	rs375440844		TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr15:76206465A>G	ENST00000308275.3	+	4	487	c.382A>G	c.(382-384)Agt>Ggt	p.S128G	FBXO22_ENST00000453211.2_Missense_Mutation_p.S128G|FBXO22_ENST00000540507.1_Missense_Mutation_p.S24G	NM_147188.2	NP_671717.1	Q8NEZ5	FBX22_HUMAN	F-box protein 22	128					cellular protein modification process (GO:0006464)|cellular response to starvation (GO:0009267)|nucleocytoplasmic transport (GO:0006913)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|protein polyubiquitination (GO:0000209)|regulation of skeletal muscle fiber development (GO:0048742)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						GAAAAGAACTAGTATGGAAAC	0.358																																					p.S128G		Atlas-SNP	.											.	FBXO22	60	.	0			c.A382G						.	A	GLY/SER,GLY/SER	0,4394		0,0,2197	105.0	94.0	98.0		382,382	4.2	1.0	15		98	1,8587	1.2+/-3.3	0,1,4293	no	missense,missense	FBXO22	NM_012170.3,NM_147188.2	56,56	0,1,6490	GG,GA,AA		0.0116,0.0,0.0077	benign,benign	128/277,128/404	76206465	1,12981	2197	4294	6491	SO:0001583	missense	26263	exon4			AGAACTAGTATGG	AF174602	CCDS10287.1, CCDS45310.1	15q23	2008-10-03	2004-06-15		ENSG00000167196	ENSG00000167196		"""F-boxes /  ""other"""""	13593	protein-coding gene	gene with protein product	"""FIST domain containing 1"""	609096	"""F-box only protein 22"""			10531035, 10531037, 17855421	Standard	NM_147188		Approved	FBX22, FISTC1	uc002bbk.3	Q8NEZ5	OTTHUMG00000142841	ENST00000308275.3:c.382A>G	chr15.hg19:g.76206465A>G	ENSP00000307833:p.Ser128Gly	154.0	0.0		92.0	4.0	NM_012170	Q0D2P8|Q6PIL5|Q8IXW3|Q9H824|Q9UKC0	Missense_Mutation	SNP	ENST00000308275.3	hg19	CCDS10287.1	.	.	.	.	.	.	.	.	.	.	A	13.71	2.317409	0.40996	0.0	1.16E-4	ENSG00000167196	ENST00000308275;ENST00000453211;ENST00000540507	.	.	.	5.44	4.25	0.50352	.	0.375999	0.32548	N	0.005955	T	0.26991	0.0661	N	0.19112	0.55	0.22629	N	0.998916	B;B	0.27559	0.181;0.058	B;B	0.21917	0.014;0.037	T	0.18241	-1.0343	9	0.44086	T	0.13	-12.1549	11.4063	0.49900	0.8381:0.1619:0.0:0.0	.	128;128	Q8NEZ5;Q8NEZ5-3	FBX22_HUMAN;.	G	128;128;24	.	ENSP00000307833:S128G	S	+	1	0	FBXO22	73993520	0.558000	0.26554	0.996000	0.52242	0.997000	0.91878	1.897000	0.39799	2.055000	0.61198	0.528000	0.53228	AGT	.	.		0.358	FBXO22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286477.2	NM_147188	
TBC1D2B	23102	hgsc.bcm.edu	37	15	78301403	78301403	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr15:78301403A>G	ENST00000300584.3	-	10	2323	c.2324T>C	c.(2323-2325)cTc>cCc	p.L775P	TBC1D2B_ENST00000409931.3_Missense_Mutation_p.L775P	NM_015079.5|NM_144572.1	NP_055894.6|NP_653173.1	Q9UPU7	TBD2B_HUMAN	TBC1 domain family, member 2B	775	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						Rab GTPase activator activity (GO:0005097)			breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						TATGGTAACGAGACACCAGAA	0.463																																					p.L775P		Atlas-SNP	.											.	TBC1D2B	104	.	0			c.T2324C						.						68.0	56.0	60.0					15																	78301403		2196	4293	6489	SO:0001583	missense	23102	exon10			GTAACGAGACACC	AB028978	CCDS32301.2, CCDS45314.1	15q24.3-q25.1	2005-11-29			ENSG00000167202	ENSG00000167202			29183	protein-coding gene	gene with protein product						10470851	Standard	NM_015079		Approved	KIAA1055	uc002bcy.4	Q9UPU7	OTTHUMG00000152885	ENST00000300584.3:c.2324T>C	chr15.hg19:g.78301403A>G	ENSP00000300584:p.Leu775Pro	95.0	0.0		36.0	4.0	NM_144572	A7MD42|Q8N1F9|Q9NXM0	Missense_Mutation	SNP	ENST00000300584.3	hg19	CCDS45314.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	22.0|22.0	4.226687|4.226687	0.79576|0.79576	.|.	.|.	ENSG00000167202|ENSG00000167202	ENST00000409931;ENST00000300584|ENST00000418039	T;T|.	0.16324|.	2.35;2.35|.	4.78|4.78	4.78|4.78	0.61160|0.61160	Rab-GAP/TBC domain (4);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.88422|0.88422	0.6432|0.6432	H|H	0.98507|0.98507	4.25|4.25	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	0.999;1.0;1.0|.	D|D	0.92549|0.92549	0.6048|0.6048	10|5	0.87932|.	D|.	0|.	.|.	13.7935|13.7935	0.63157|0.63157	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	775;227;775|.	Q9UPU7-2;Q9UPU7-3;Q9UPU7|.	.;.;TBD2B_HUMAN|.	P|P	775|657	ENSP00000387165:L775P;ENSP00000300584:L775P|.	ENSP00000300584:L775P|.	L|S	-|-	2|1	0|0	TBC1D2B|TBC1D2B	76088458|76088458	1.000000|1.000000	0.71417|0.71417	0.909000|0.909000	0.35828|0.35828	0.956000|0.956000	0.61745|0.61745	9.120000|9.120000	0.94369|0.94369	1.914000|1.914000	0.55421|0.55421	0.533000|0.533000	0.62120|0.62120	CTC|TCG	.	.		0.463	TBC1D2B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000328369.3	NM_015079	
TBC1D2B	23102	hgsc.bcm.edu	37	15	78308988	78308988	+	Missense_Mutation	SNP	C	C	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr15:78308988C>T	ENST00000300584.3	-	8	1674	c.1675G>A	c.(1675-1677)Ggg>Agg	p.G559R	TBC1D2B_ENST00000409931.3_Missense_Mutation_p.G559R	NM_015079.5|NM_144572.1	NP_055894.6|NP_653173.1	Q9UPU7	TBD2B_HUMAN	TBC1 domain family, member 2B	559							Rab GTPase activator activity (GO:0005097)			breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						CGGGTGGGCCCCTGGTCTTCT	0.512																																					p.G559R		Atlas-SNP	.											.	TBC1D2B	104	.	0			c.G1675A						.						74.0	58.0	63.0					15																	78308988		2196	4293	6489	SO:0001583	missense	23102	exon8			TGGGCCCCTGGTC	AB028978	CCDS32301.2, CCDS45314.1	15q24.3-q25.1	2005-11-29			ENSG00000167202	ENSG00000167202			29183	protein-coding gene	gene with protein product						10470851	Standard	NM_015079		Approved	KIAA1055	uc002bcy.4	Q9UPU7	OTTHUMG00000152885	ENST00000300584.3:c.1675G>A	chr15.hg19:g.78308988C>T	ENSP00000300584:p.Gly559Arg	105.0	0.0		75.0	4.0	NM_144572	A7MD42|Q8N1F9|Q9NXM0	Missense_Mutation	SNP	ENST00000300584.3	hg19	CCDS45314.1	.	.	.	.	.	.	.	.	.	.	C	19.73	3.881857	0.72294	.	.	ENSG00000167202	ENST00000409931;ENST00000300584	T;T	0.08546	3.08;3.08	5.46	5.46	0.80206	.	0.263668	0.42420	D	0.000716	T	0.19327	0.0464	M	0.70595	2.14	0.44995	D	0.998011	D;P;P	0.53462	0.96;0.773;0.933	P;B;P	0.54312	0.748;0.219;0.564	T	0.00403	-1.1761	10	0.33141	T	0.24	.	11.6469	0.51265	0.0:0.91:0.0:0.09	.	559;11;559	Q9UPU7-2;Q9UPU7-3;Q9UPU7	.;.;TBD2B_HUMAN	R	559	ENSP00000387165:G559R;ENSP00000300584:G559R	ENSP00000300584:G559R	G	-	1	0	TBC1D2B	76096043	1.000000	0.71417	0.907000	0.35723	0.930000	0.56654	2.912000	0.48782	2.572000	0.86782	0.591000	0.81541	GGG	.	.		0.512	TBC1D2B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000328369.3	NM_015079	
ACSBG1	23205	hgsc.bcm.edu	37	15	78485849	78485849	+	Splice_Site	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr15:78485849T>C	ENST00000258873.4	-	5	867	c.662A>G	c.(661-663)aAg>aGg	p.K221R	ACSBG1_ENST00000541759.1_Intron|ACSBG1_ENST00000560817.1_Intron|ACSBG1_ENST00000558828.1_5'Flank	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	221					long-chain fatty acid metabolic process (GO:0001676)|myelination (GO:0042552)|ovarian follicle atresia (GO:0001552)|response to glucocorticoid (GO:0051384)|very long-chain fatty acid metabolic process (GO:0000038)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						TCCCCAAACCTTCAGGATCTT	0.577																																					p.K221R		Atlas-SNP	.											.	ACSBG1	79	.	0			c.A662G						.						111.0	109.0	110.0					15																	78485849		2196	4293	6489	SO:0001630	splice_region_variant	23205	exon5			CAAACCTTCAGGA	AB014531	CCDS10298.1	15q23-q24	2006-02-09			ENSG00000103740	ENSG00000103740		"""Acyl-CoA synthetase family"""	29567	protein-coding gene	gene with protein product	"""bubblegum"", ""very long-chain acyl-CoA synthetase"", ""lipidosin"""	614362				9734811, 10954726	Standard	NM_015162		Approved	BGM, FLJ30320, MGC14352, BG1, KIAA0631, hBG1, hsBG	uc002bdh.3	Q96GR2	OTTHUMG00000143734	ENST00000258873.4:c.663+1A>G	chr15.hg19:g.78485849T>C		134.0	0.0		76.0	5.0	NM_015162	B2RB61|O75126|Q76N27|Q9HC26	Missense_Mutation	SNP	ENST00000258873.4	hg19	CCDS10298.1	.	.	.	.	.	.	.	.	.	.	T	16.95	3.262436	0.59431	.	.	ENSG00000103740	ENST00000258873	T	0.44083	0.93	4.49	3.3	0.37823	AMP-dependent synthetase/ligase (1);	0.217249	0.38217	N	0.001761	T	0.39009	0.1062	N	0.25332	0.735	0.80722	D	1	P;B	0.47910	0.902;0.261	P;B	0.53035	0.716;0.149	T	0.12889	-1.0530	10	0.39692	T	0.17	-30.5462	9.3622	0.38203	0.1591:0.0:0.0:0.8409	.	217;221	B7Z2Y6;Q96GR2	.;ACBG1_HUMAN	R	221	ENSP00000258873:K221R	ENSP00000258873:K221R	K	-	2	0	ACSBG1	76272904	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	5.288000	0.65651	1.663000	0.50791	0.533000	0.62120	AAG	.	.		0.577	ACSBG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289802.2	NM_015162	Missense_Mutation
RASGRF1	5923	hgsc.bcm.edu	37	15	79339198	79339198	+	Silent	SNP	C	C	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr15:79339198C>A	ENST00000419573.3	-	5	1042	c.768G>T	c.(766-768)gtG>gtT	p.V256V	RASGRF1_ENST00000558480.2_Silent_p.V256V|RASGRF1_ENST00000560334.1_5'UTR	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	256	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GCAGCTGCTGCACGTACTCAG	0.587																																					p.V256V		Atlas-SNP	.											.	RASGRF1	168	.	0			c.G768T						.						138.0	105.0	116.0					15																	79339198		2196	4293	6489	SO:0001819	synonymous_variant	5923	exon5			CTGCTGCACGTAC	M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.768G>T	chr15.hg19:g.79339198C>A		133.0	0.0		74.0	4.0	NM_001145648	F8VPA5|H0YKF2|J3KQP9|Q16027	Silent	SNP	ENST00000419573.3	hg19	CCDS10309.1																																																																																			.	.		0.587	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000291371.3	NM_002891	
KIAA1024	23251	hgsc.bcm.edu	37	15	79748703	79748703	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr15:79748703A>G	ENST00000305428.3	+	2	289	c.214A>G	c.(214-216)Act>Gct	p.T72A		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	72						integral component of membrane (GO:0016021)				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						GATGAAATGCACTGTGAATAA	0.463																																					p.T72A		Atlas-SNP	.											.	KIAA1024	146	.	0			c.A214G						.						90.0	87.0	88.0					15																	79748703		2196	4293	6489	SO:0001583	missense	23251	exon2			AAATGCACTGTGA	AB028947	CCDS32306.1	15q25.1	2007-12-12				ENSG00000169330			29172	protein-coding gene	gene with protein product						10470851	Standard	NM_015206		Approved		uc002bew.1	Q9UPX6		ENST00000305428.3:c.214A>G	chr15.hg19:g.79748703A>G	ENSP00000307461:p.Thr72Ala	165.0	0.0		130.0	6.0	NM_015206	A7MD43	Missense_Mutation	SNP	ENST00000305428.3	hg19	CCDS32306.1	.	.	.	.	.	.	.	.	.	.	A	8.552	0.875863	0.17395	.	.	ENSG00000169330	ENST00000305428	T	0.34072	1.38	5.88	-1.1	0.09872	.	0.687597	0.15573	N	0.255338	T	0.15262	0.0368	N	0.17474	0.49	0.18873	N	0.999988	B	0.02656	0.0	B	0.01281	0.0	T	0.16012	-1.0417	9	.	.	.	.	1.4896	0.02454	0.3948:0.2864:0.2005:0.1182	.	72	Q9UPX6	K1024_HUMAN	A	72	ENSP00000307461:T72A	.	T	+	1	0	KIAA1024	77535758	0.896000	0.30565	0.170000	0.22879	0.992000	0.81027	0.457000	0.21875	-0.473000	0.06871	0.482000	0.46254	ACT	.	.		0.463	KIAA1024-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416718.1	NM_015206	
AP3B2	8120	hgsc.bcm.edu	37	15	83331514	83331514	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr15:83331514A>G	ENST00000261722.3	-	22	2915	c.2708T>C	c.(2707-2709)aTc>aCc	p.I903T	AP3B2_ENST00000535348.1_Missense_Mutation_p.I871T|AP3B2_ENST00000535359.1_Missense_Mutation_p.I922T|RP11-752G15.3_ENST00000560650.1_RNA	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	903					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|intracellular protein transport (GO:0006886)|post-Golgi vesicle-mediated transport (GO:0006892)	AP-3 adaptor complex (GO:0030123)|COPI-coated vesicle (GO:0030137)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			CAGGCCCTTGATGGGGGTATC	0.582																																					p.I903T		Atlas-SNP	.											.	AP3B2	103	.	0			c.T2708C						.						38.0	42.0	40.0					15																	83331514		1988	4157	6145	SO:0001583	missense	8120	exon22			CCCTTGATGGGGG	U37673	CCDS45331.1, CCDS61736.1, CCDS61737.1	15q	2008-07-07			ENSG00000103723	ENSG00000103723			567	protein-coding gene	gene with protein product		602166				7671305, 1851215	Standard	NM_004644		Approved	NAPTB	uc010uoh.2	Q13367	OTTHUMG00000168009	ENST00000261722.3:c.2708T>C	chr15.hg19:g.83331514A>G	ENSP00000261722:p.Ile903Thr	156.0	0.0		69.0	4.0	NM_004644	A4Z4T7|B7ZKR7|B7ZKS0|O14808|Q52LY8	Missense_Mutation	SNP	ENST00000261722.3	hg19	CCDS45331.1	.	.	.	.	.	.	.	.	.	.	A	19.91	3.914232	0.72983	.	.	ENSG00000103723	ENST00000261722;ENST00000535348;ENST00000535359	T;T;T	0.35973	1.28;1.28;1.28	6.04	4.92	0.64577	Coatomer/clathrin adaptor appendage, Ig-like subdomain (1);Clathrin adaptor, gamma-adaptin, appendage (1);	0.245199	0.42294	D	0.000740	T	0.25005	0.0607	N	0.16833	0.445	0.80722	D	1	B;B;B	0.21905	0.062;0.0;0.0	B;B;B	0.20184	0.028;0.001;0.001	T	0.04229	-1.0967	10	0.72032	D	0.01	-25.8165	12.2488	0.54587	0.9339:0.0:0.0661:0.0	.	871;922;903	B7ZKR7;B7ZKS0;Q13367	.;.;AP3B2_HUMAN	T	903;871;922	ENSP00000261722:I903T;ENSP00000438721:I871T;ENSP00000440984:I922T	ENSP00000261722:I903T	I	-	2	0	AP3B2	81128569	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	6.836000	0.75349	1.101000	0.41535	0.460000	0.39030	ATC	.	.		0.582	AP3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397463.1		
AKAP13	11214	hgsc.bcm.edu	37	15	86273745	86273745	+	Splice_Site	SNP	A	A	G	rs116261620	byFrequency	TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr15:86273745A>G	ENST00000394518.2	+	30	7184	c.7089A>G	c.(7087-7089)gaA>gaG	p.E2363E	AKAP13_ENST00000361243.2_Splice_Site_p.E2367E|AKAP13_ENST00000394510.2_Splice_Site_p.E608E|AKAP13_ENST00000560579.1_3'UTR	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	2363	Interaction with ESR1.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						TTCCTGCAGAACAACTTCACC	0.438											OREG0023425	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.E2367E	Melanoma(94;603 1453 3280 32295 32951)	Atlas-SNP	.											.	AKAP13	394	.	0			c.A7101G						.						119.0	112.0	114.0					15																	86273745		2202	4299	6501	SO:0001630	splice_region_variant	11214	exon30			TGCAGAACAACTT	M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"""A-kinase anchor proteins"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	371	protein-coding gene	gene with protein product		604686	"""lymphoid blast crisis oncogene"""	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.7088-1A>G	chr15.hg19:g.86273745A>G		60.0	0.0	1243	56.0	4.0	NM_006738	Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Silent	SNP	ENST00000394518.2	hg19	CCDS32319.1																																																																																			.	A|0.998;C|0.002		0.438	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	NM_007200	Silent
AKAP13	11214	hgsc.bcm.edu	37	15	86273922	86273922	+	Silent	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr15:86273922A>G	ENST00000394518.2	+	30	7361	c.7266A>G	c.(7264-7266)aaA>aaG	p.K2422K	AKAP13_ENST00000361243.2_Silent_p.K2426K|AKAP13_ENST00000394510.2_Silent_p.K667K|AKAP13_ENST00000560579.1_3'UTR	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	2422	Interaction with ESR1.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)	p.K2426K(1)		NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						CTTTAATGAAAAGTGCAATAA	0.453											OREG0023425	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.K2426K	Melanoma(94;603 1453 3280 32295 32951)	Atlas-SNP	.											AKAP13,colon,carcinoma,0,1	AKAP13	394	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A7278G						.						82.0	77.0	79.0					15																	86273922		2202	4299	6501	SO:0001819	synonymous_variant	11214	exon30			AATGAAAAGTGCA	M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"""A-kinase anchor proteins"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	371	protein-coding gene	gene with protein product		604686	"""lymphoid blast crisis oncogene"""	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.7266A>G	chr15.hg19:g.86273922A>G		68.0	1.0	1243	40.0	2.0	NM_006738	Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Silent	SNP	ENST00000394518.2	hg19	CCDS32319.1																																																																																			.	.		0.453	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	NM_007200	
RHCG	51458	hgsc.bcm.edu	37	15	90023578	90023578	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr15:90023578A>G	ENST00000268122.4	-	4	652	c.584T>C	c.(583-585)gTg>gCg	p.V195A	RHCG_ENST00000544600.1_Missense_Mutation_p.V195A	NM_016321.1	NP_057405.1	Q9UBD6	RHCG_HUMAN	Rh family, C glycoprotein	195					amine transport (GO:0015837)|ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|cellular ion homeostasis (GO:0006873)|epithelial cell differentiation (GO:0030855)|homeostatic process (GO:0042592)|regulation of pH (GO:0006885)|transepithelial ammonium transport (GO:0070634)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ammonium transmembrane transporter activity (GO:0008519)|ankyrin binding (GO:0030506)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(78;0.0237)|all_lung(78;0.0478)					GATCCGGGTCACTGTGAGCCC	0.557																																					p.V195A		Atlas-SNP	.											.	RHCG	49	.	0			c.T584C						.						222.0	203.0	209.0					15																	90023578		2200	4299	6499	SO:0001583	missense	51458	exon4			CGGGTCACTGTGA	AF081497	CCDS10351.1	15q25	2013-05-22	2006-02-23		ENSG00000140519	ENSG00000140519		"""Solute carriers"""	18140	protein-coding gene	gene with protein product		605381	"""chromosome 15 open reading frame 6"", ""Rhesus blood group, C glycoprotein"""	C15orf6		10852913	Standard	NM_016321		Approved	RHGK, PDRC2, SLC42A3	uc002bnz.2	Q9UBD6	OTTHUMG00000149647	ENST00000268122.4:c.584T>C	chr15.hg19:g.90023578A>G	ENSP00000268122:p.Val195Ala	177.0	0.0		125.0	5.0	NM_016321	A8K4D4|Q6X3Y4	Missense_Mutation	SNP	ENST00000268122.4	hg19	CCDS10351.1	.	.	.	.	.	.	.	.	.	.	A	18.91	3.724379	0.68959	.	.	ENSG00000140519	ENST00000544600;ENST00000268122;ENST00000536247	T;T	0.20881	2.04;2.04	5.45	5.45	0.79879	Ammonium transporter AmtB-like (3);	0.113799	0.64402	D	0.000014	T	0.25975	0.0633	L	0.60904	1.88	0.58432	D	0.999999	B;B	0.22480	0.07;0.07	B;B	0.29785	0.107;0.107	T	0.03514	-1.1029	9	.	.	.	-18.5972	15.5559	0.76192	1.0:0.0:0.0:0.0	.	195;195	A8K4D4;Q9UBD6	.;RHCG_HUMAN	A	195;195;186	ENSP00000438123:V195A;ENSP00000268122:V195A	.	V	-	2	0	RHCG	87824582	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	7.487000	0.81328	2.084000	0.62774	0.374000	0.22700	GTG	.	.		0.557	RHCG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000312855.2	NM_016321	
TTLL13P	440307	hgsc.bcm.edu	37	15	90793872	90793872	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr15:90793872A>G	ENST00000561573.1	+	2	274	c.10A>G	c.(10-12)Agt>Ggt	p.S4G	TTLL13_ENST00000339615.5_Missense_Mutation_p.S4G|TTLL13_ENST00000438251.1_Missense_Mutation_p.S4G																							AATGGAGCCGAGTACCTGTAG	0.493																																					p.S4G		Atlas-SNP	.											.	TTLL13	44	.	0			c.A10G						.						75.0	75.0	75.0					15																	90793872		2199	4298	6497	SO:0001583	missense	440307	exon2			GAGCCGAGTACCT																												ENST00000561573.1:c.10A>G	chr15.hg19:g.90793872A>G	ENSP00000456615:p.Ser4Gly	170.0	0.0		97.0	4.0	NM_001029964		Missense_Mutation	SNP	ENST00000561573.1	hg19		.	.	.	.	.	.	.	.	.	.	A	8.884	0.952418	0.18431	.	.	ENSG00000213471	ENST00000438251;ENST00000339615	T;T	0.04083	3.71;3.77	5.16	2.83	0.33086	.	.	.	.	.	T	0.02727	0.0082	N	0.08118	0	0.09310	N	1	B	0.19200	0.034	B	0.21917	0.037	T	0.46707	-0.9172	9	0.28530	T	0.3	.	6.3432	0.21335	0.8044:0.0:0.1956:0.0	.	4	A6NNM8-2	.	G	4	ENSP00000413362:S4G;ENSP00000345294:S4G	ENSP00000345294:S4G	S	+	1	0	TTLL13	88594876	0.005000	0.15991	0.016000	0.15963	0.122000	0.20287	1.285000	0.33261	0.910000	0.36722	0.402000	0.26972	AGT	.	.		0.493	RP11-697E2.6-001	KNOWN	basic|appris_principal|readthrough_transcript	nonsense_mediated_decay	protein_coding	OTTHUMT00000435855.1		
SV2B	9899	hgsc.bcm.edu	37	15	91809826	91809826	+	Silent	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr15:91809826A>G	ENST00000394232.1	+	7	1493	c.1023A>G	c.(1021-1023)aaA>aaG	p.K341K	SV2B_ENST00000330276.4_Silent_p.K341K|SV2B_ENST00000545111.2_Silent_p.K190K	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	341					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			CCAACATCAAAACTCCCAAGC	0.373																																					p.K341K		Atlas-SNP	.											.	SV2B	98	.	0			c.A1023G						.						74.0	76.0	76.0					15																	91809826		2198	4298	6496	SO:0001819	synonymous_variant	9899	exon8			CATCAAAACTCCC	AB018278	CCDS10370.1, CCDS53972.1	15q26.1	2005-01-10			ENSG00000185518	ENSG00000185518			16874	protein-coding gene	gene with protein product		185861				9872452, 7681585	Standard	NM_014848		Approved	KIAA0735, HsT19680	uc002bqv.3	Q7L1I2	OTTHUMG00000149833	ENST00000394232.1:c.1023A>G	chr15.hg19:g.91809826A>G		75.0	0.0		78.0	4.0	NM_014848	B4DH30|C6G489|O94840|Q6IAR8	Silent	SNP	ENST00000394232.1	hg19	CCDS10370.1																																																																																			.	.		0.373	SV2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313494.3	NM_014848	
LUC7L	55692	hgsc.bcm.edu	37	16	242959	242959	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr16:242959T>C	ENST00000293872.8	-	7	853	c.743A>G	c.(742-744)gAg>gGg	p.E248G	LUC7L_ENST00000397780.1_Missense_Mutation_p.E195G|LUC7L_ENST00000397783.1_Missense_Mutation_p.E248G|LUC7L_ENST00000337351.4_Missense_Mutation_p.E248G	NM_201412.1	NP_958815.1	Q9NQ29	LUC7L_HUMAN	LUC7-like (S. cerevisiae)	248	Arg/Ser-rich.				mRNA splice site selection (GO:0006376)|negative regulation of striated muscle tissue development (GO:0045843)	U1 snRNP (GO:0005685)	identical protein binding (GO:0042802)|mRNA binding (GO:0003729)			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	11		all_cancers(16;1.1e-06)|all_epithelial(16;2.71e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.0138)|all_lung(18;0.0306)				TTCCCTCTCCTCTCTCCTCCT	0.517																																					p.E248G		Atlas-SNP	.											.	LUC7L	46	.	0			c.A743G						.						272.0	249.0	257.0					16																	242959		2203	4300	6503	SO:0001583	missense	55692	exon7			CTCTCCTCTCTCC	AY005111	CCDS10401.1, CCDS32348.1	16p13.3	2010-01-25	2001-11-28		ENSG00000007392	ENSG00000007392			6723	protein-coding gene	gene with protein product		607782	"""LUC7 (S. cerevisiae)-like"""				Standard	NM_201412		Approved	LUC7B1, hLuc7B1, Luc7	uc002cgc.1	Q9NQ29	OTTHUMG00000060730	ENST00000293872.8:c.743A>G	chr16.hg19:g.242959T>C	ENSP00000293872:p.Glu248Gly	111.0	0.0		76.0	5.0	NM_201412	B8ZZ13|Q96S32|Q9NPH4	Missense_Mutation	SNP	ENST00000293872.8	hg19	CCDS32348.1	.	.	.	.	.	.	.	.	.	.	T	18.45	3.625639	0.66901	.	.	ENSG00000007392	ENST00000337351;ENST00000293872;ENST00000397783;ENST00000429378;ENST00000397780;ENST00000430864	T;T;T;T	0.64991	0.96;0.96;-0.13;0.96	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.67316	0.2880	M	0.74881	2.28	0.80722	D	1	P	0.48089	0.905	P	0.47118	0.538	T	0.68345	-0.5433	10	0.33141	T	0.24	.	14.0517	0.64742	0.0:0.0:0.0:1.0	.	248	Q9NQ29	LUC7L_HUMAN	G	248;248;248;47;195;162	ENSP00000337507:E248G;ENSP00000380885:E248G;ENSP00000413033:E47G;ENSP00000380882:E195G	ENSP00000293872:E248G	E	-	2	0	LUC7L	182960	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.827000	0.69300	2.061000	0.61500	0.379000	0.24179	GAG	.	.		0.517	LUC7L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134239.1		
MSLN	10232	hgsc.bcm.edu	37	16	815776	815776	+	Missense_Mutation	SNP	G	G	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr16:815776G>T	ENST00000382862.3	+	10	976	c.881G>T	c.(880-882)cGg>cTg	p.R294L	MSLN_ENST00000563941.1_Missense_Mutation_p.R294L|MSLN_ENST00000545450.2_Missense_Mutation_p.R294L|MSLN_ENST00000566549.1_Missense_Mutation_p.R294L	NM_013404.4	NP_037536.2	Q13421	MSLN_HUMAN	mesothelin	294					cell adhesion (GO:0007155)|pancreas development (GO:0031016)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				CCGCGGTTCCGGCGGGAAGTG	0.701																																					p.R294L		Atlas-SNP	.											.	MSLN	109	.	0			c.G881T						.						16.0	19.0	18.0					16																	815776		2170	4277	6447	SO:0001583	missense	10232	exon11			GGTTCCGGCGGGA	U40434	CCDS32356.1, CCDS45370.1	16p13.3	2008-04-16			ENSG00000102854	ENSG00000102854			7371	protein-coding gene	gene with protein product		601051				7665620, 8552591	Standard	NM_005823		Approved	CAK1, MPF	uc002cjw.2	Q13421	OTTHUMG00000047992	ENST00000382862.3:c.881G>T	chr16.hg19:g.815776G>T	ENSP00000372313:p.Arg294Leu	88.0	0.0		60.0	4.0	NM_005823	D3DU65|Q14859|Q4VQD5|Q96GR6|Q96KJ5|Q9BR17|Q9BTR2|Q9UCB2|Q9UK57	Missense_Mutation	SNP	ENST00000382862.3	hg19	CCDS32356.1	.	.	.	.	.	.	.	.	.	.	G	12.71	2.018308	0.35606	.	.	ENSG00000102854	ENST00000446427;ENST00000445361;ENST00000545450;ENST00000382862	T;T	0.18657	2.2;2.2	4.73	-1.06	0.10002	.	1.363720	0.05188	N	0.502529	T	0.17534	0.0421	M	0.61703	1.905	0.09310	N	1	P;P;P;P	0.43542	0.678;0.725;0.81;0.678	B;B;B;B	0.33690	0.098;0.158;0.168;0.098	T	0.25882	-1.0119	10	0.41790	T	0.15	-4.6104	4.0101	0.09619	0.3418:0.0:0.4902:0.168	.	293;294;294;294	Q13421-4;Q13421;Q13421-2;Q13421-3	.;MSLN_HUMAN;.;.	L	294	ENSP00000442965:R294L;ENSP00000372313:R294L	ENSP00000372313:R294L	R	+	2	0	MSLN	755777	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	-0.396000	0.07278	-0.372000	0.07992	0.551000	0.68910	CGG	.	.		0.701	MSLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109253.2		
CHTF18	63922	hgsc.bcm.edu	37	16	843038	843038	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr16:843038A>G	ENST00000262315.9	+	13	1708	c.1645A>G	c.(1645-1647)Atc>Gtc	p.I549V	CHTF18_ENST00000317063.6_Missense_Mutation_p.I739V|CHTF18_ENST00000455171.2_Missense_Mutation_p.I577V	NM_022092.2	NP_071375.1	Q8WVB6	CTF18_HUMAN	CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae)	549					cell cycle (GO:0007049)|DNA replication (GO:0006260)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			endometrium(1)|kidney(3)|liver(2)|lung(4)|prostate(1)	11		Hepatocellular(780;0.00335)				TGACAATGACATCCGGGCCTG	0.692																																					p.I549V		Atlas-SNP	.											.	CHTF18	52	.	0			c.A1645G						.						18.0	21.0	20.0					16																	843038		1863	4066	5929	SO:0001583	missense	63922	exon13			AATGACATCCGGG	BC018184	CCDS45371.1	16p13.3	2010-04-21	2003-12-09		ENSG00000127586	ENSG00000127586		"""ATPases / AAA-type"""	18435	protein-coding gene	gene with protein product		613201	"""chromosome 16 open reading frame 41"""	C16orf41		12171929	Standard	NM_022092		Approved	CHL12, C321D2.4, Ctf18	uc002cke.4	Q8WVB6	OTTHUMG00000047838	ENST00000262315.9:c.1645A>G	chr16.hg19:g.843038A>G	ENSP00000262315:p.Ile549Val	97.0	0.0		103.0	5.0	NM_022092	B7ZBA2|D3DU68|Q7Z6Y4|Q7Z6Y6|Q9BR83|Q9BRG5|Q9H7K3	Missense_Mutation	SNP	ENST00000262315.9	hg19	CCDS45371.1	.	.	.	.	.	.	.	.	.	.	a	15.67	2.900812	0.52227	.	.	ENSG00000127586	ENST00000317063;ENST00000455171;ENST00000262315	T;T;T	0.16743	2.32;2.32;2.32	4.9	4.9	0.64082	.	0.000000	0.85682	D	0.000000	T	0.32793	0.0841	L	0.55103	1.725	0.80722	D	1	D;P	0.54207	0.965;0.941	P;P	0.61201	0.885;0.77	T	0.01966	-1.1238	10	0.40728	T	0.16	-33.9346	13.3686	0.60701	1.0:0.0:0.0:0.0	.	577;549	Q8WVB6-2;Q8WVB6	.;CTF18_HUMAN	V	739;577;549	ENSP00000313029:I739V;ENSP00000406252:I577V;ENSP00000262315:I549V	ENSP00000262315:I549V	I	+	1	0	CHTF18	783039	1.000000	0.71417	1.000000	0.80357	0.088000	0.18126	5.085000	0.64468	1.843000	0.53566	0.454000	0.30748	ATC	.	.		0.692	CHTF18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109061.3	NM_022092	
BAIAP3	8938	hgsc.bcm.edu	37	16	1388575	1388575	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr16:1388575A>G	ENST00000324385.5	+	2	288	c.130A>G	c.(130-132)Agc>Ggc	p.S44G	BAIAP3_ENST00000397488.2_Missense_Mutation_p.S9G|BAIAP3_ENST00000397489.1_Missense_Mutation_p.S9G|BAIAP3_ENST00000421665.2_Missense_Mutation_p.S9G|BAIAP3_ENST00000426824.3_Missense_Mutation_p.S9G|BAIAP3_ENST00000562208.1_Missense_Mutation_p.S9G|BAIAP3_ENST00000568887.1_Missense_Mutation_p.S9G	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	44					G-protein coupled receptor signaling pathway (GO:0007186)|neurotransmitter secretion (GO:0007269)		protein C-terminus binding (GO:0008022)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				GGACATTAAGAGCAGCGTGCT	0.672																																					p.S44G		Atlas-SNP	.											.	BAIAP3	88	.	0			c.A130G						.						44.0	34.0	38.0					16																	1388575		2194	4296	6490	SO:0001583	missense	8938	exon2			ATTAAGAGCAGCG	AB017111	CCDS10434.1, CCDS55978.1, CCDS55979.1, CCDS58402.1, CCDS58403.1, CCDS66894.1	16p13.3	2008-07-04			ENSG00000007516	ENSG00000007516			948	protein-coding gene	gene with protein product		604009				9790924	Standard	NM_003933		Approved	BAP3, KIAA0734	uc002clk.2	O94812	OTTHUMG00000047833	ENST00000324385.5:c.130A>G	chr16.hg19:g.1388575A>G	ENSP00000324510:p.Ser44Gly	286.0	0.0		178.0	8.0	NM_003933	A2A2B2|B2RCD7|B4DGS5|B4DIK3|B4DRK9|B4DRP1|E7EUB9|H3BUH8|H3BVI3|H7C2Q1|O94839|Q2M226|Q658J2|Q76N05|Q96RZ3|Q9UJK1	Missense_Mutation	SNP	ENST00000324385.5	hg19	CCDS10434.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.165555	0.78339	.	.	ENSG00000007516	ENST00000426824;ENST00000397488;ENST00000324385;ENST00000397489;ENST00000421665	T;T;T;T;T	0.78924	-0.86;-0.86;-0.91;-0.86;-1.22	4.01	4.01	0.46588	.	0.000000	0.85682	D	0.000000	D	0.82889	0.5135	L	0.56769	1.78	0.33056	D	0.53339	D;D;D;D;D	0.71674	0.997;0.998;0.997;0.997;0.997	D;D;D;D;D	0.77004	0.985;0.989;0.985;0.985;0.985	D	0.84228	0.0465	10	0.32370	T	0.25	-32.4674	9.4946	0.38980	1.0:0.0:0.0:0.0	.	9;44;9;44;9	E7EUB9;B4DGA2;B4DIK3;O94812;A2A2B2	.;.;.;BAIP3_HUMAN;.	G	9;9;44;9;9	ENSP00000407242:S9G;ENSP00000380625:S9G;ENSP00000324510:S44G;ENSP00000380626:S9G;ENSP00000409533:S9G	ENSP00000324510:S44G	S	+	1	0	BAIAP3	1328576	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	2.079000	0.41577	1.819000	0.53055	0.402000	0.26972	AGC	.	.		0.672	BAIAP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109056.3		
GFER	2671	hgsc.bcm.edu	37	16	2034924	2034924	+	Silent	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr16:2034924T>C	ENST00000248114.6	+	2	441	c.435T>C	c.(433-435)tgT>tgC	p.C145C	GFER_ENST00000567719.1_Silent_p.C70C|GFER_ENST00000569451.1_Intron|AC005606.14_ENST00000564438.1_lincRNA	NM_005262.2	NP_005253.3	P55789	ALR_HUMAN	growth factor, augmenter of liver regeneration	145	ERV/ALR sulfhydryl oxidase. {ECO:0000255|PROSITE-ProRule:PRU00654}.				cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|protein disulfide oxidoreductase activity (GO:0015035)|thiol oxidase activity (GO:0016972)			endometrium(1)|large_intestine(1)|lung(3)	5					Flavin adenine dinucleotide(DB03147)	GTGAGGAGTGTGCTGAAGACC	0.547																																					p.C145C		Atlas-SNP	.											.	GFER	8	.	0			c.T435C						.						85.0	83.0	84.0					16																	2034924		2198	4300	6498	SO:0001819	synonymous_variant	2671	exon2			GGAGTGTGCTGAA	BC002429	CCDS32368.1	16p13.3-p13.12	2011-06-22	2008-08-01		ENSG00000127554	ENSG00000127554			4236	protein-coding gene	gene with protein product	"""ERV1 homolog (S. cerevisiae)"""	600924	"""growth factor, erv1 (S. cerevisiae)-like (augmenter of liver regeneration)"""			8575761	Standard	NM_005262		Approved	HSS, ERV1, ALR, HERV1, HPO1, HPO2	uc002cob.3	P55789		ENST00000248114.6:c.435T>C	chr16.hg19:g.2034924T>C		118.0	0.0		89.0	4.0	NM_005262	Q53YM6|Q8TAH6|Q9H290|Q9UK40	Silent	SNP	ENST00000248114.6	hg19	CCDS32368.1																																																																																			.	.		0.547	GFER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434243.1	NM_005262	
RAB26	25837	hgsc.bcm.edu	37	16	2203391	2203391	+	Missense_Mutation	SNP	A	A	G	rs199768285		TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr16:2203391A>G	ENST00000210187.6	+	9	900	c.740A>G	c.(739-741)gAg>gGg	p.E247G	RP11-304L19.5_ENST00000563192.1_lincRNA|SNORD60_ENST00000383903.1_RNA|TRAF7_ENST00000326181.6_5'Flank|RAB26_ENST00000541451.1_Missense_Mutation_p.E181G	NM_014353.4	NP_055168.2	Q9ULW5	RAB26_HUMAN	RAB26, member RAS oncogene family	247					exocrine system development (GO:0035272)|Golgi to plasma membrane protein transport (GO:0043001)|regulated secretory pathway (GO:0045055)|regulation of exocytosis (GO:0017157)|small GTPase mediated signal transduction (GO:0007264)	Golgi membrane (GO:0000139)|intrinsic component of plasma membrane (GO:0031226)|secretory granule membrane (GO:0030667)	GMP binding (GO:0019002)|GTP binding (GO:0005525)			kidney(1)|large_intestine(1)|lung(3)	5						GTTAAGAGGGAGGGTCGAGGG	0.642																																					p.E247G		Atlas-SNP	.											.	RAB26	9	.	0			c.A740G						.						40.0	45.0	43.0					16																	2203391		2198	4299	6497	SO:0001583	missense	25837	exon9			AGAGGGAGGGTCG	AB027137	CCDS10460.1	16p13.3	2008-07-28			ENSG00000167964	ENSG00000167964		"""RAB, member RAS oncogene"""	14259	protein-coding gene	gene with protein product		605455				11043516	Standard	NM_014353		Approved		uc002cou.3	Q9ULW5	OTTHUMG00000128829	ENST00000210187.6:c.740A>G	chr16.hg19:g.2203391A>G	ENSP00000210187:p.Glu247Gly	115.0	0.0		78.0	5.0	NM_014353	B2RAA6|Q3L6K5|Q6NXS7	Missense_Mutation	SNP	ENST00000210187.6	hg19	CCDS10460.1	.	.	.	.	.	.	.	.	.	.	A	14.54	2.564699	0.45694	.	.	ENSG00000167964	ENST00000541451;ENST00000210187	T;T	0.64991	-0.13;0.02	4.42	4.42	0.53409	.	0.000000	0.64402	U	0.000002	T	0.51618	0.1685	N	0.20807	0.61	0.45295	D	0.998294	P	0.34892	0.474	B	0.41088	0.347	T	0.55049	-0.8201	10	0.44086	T	0.13	.	12.6103	0.56547	1.0:0.0:0.0:0.0	.	247	Q9ULW5	RAB26_HUMAN	G	181;247	ENSP00000441580:E181G;ENSP00000210187:E247G	ENSP00000210187:E247G	E	+	2	0	RAB26	2143392	1.000000	0.71417	0.975000	0.42487	0.014000	0.08584	6.433000	0.73404	1.860000	0.53959	0.260000	0.18958	GAG	.	A|0.999;C|0.001		0.642	RAB26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250767.2		
CASKIN1	57524	hgsc.bcm.edu	37	16	2233896	2233896	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr16:2233896A>G	ENST00000343516.6	-	15	1555	c.1463T>C	c.(1462-1464)cTc>cCc	p.L488P	CASKIN1_ENST00000564289.1_Intron	NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	488	SAM 1. {ECO:0000255|PROSITE- ProRule:PRU00184}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						GGGGGCGTAGAGCTGCAGCTG	0.682																																					p.L488P		Atlas-SNP	.											.	CASKIN1	130	.	0			c.T1463C						.						38.0	48.0	44.0					16																	2233896		2149	4265	6414	SO:0001583	missense	57524	exon15			GCGTAGAGCTGCA	AF451977	CCDS42103.1	16p13.3	2013-01-10				ENSG00000167971		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	20879	protein-coding gene	gene with protein product		612184				12040031	Standard	NM_020764		Approved	KIAA1306, ANKS5A	uc010bsg.1	Q8WXD9		ENST00000343516.6:c.1463T>C	chr16.hg19:g.2233896A>G	ENSP00000345436:p.Leu488Pro	103.0	0.0		72.0	5.0	NM_020764	Q9P2P0	Missense_Mutation	SNP	ENST00000343516.6	hg19	CCDS42103.1	.	.	.	.	.	.	.	.	.	.	A	11.55	1.672436	0.29693	.	.	ENSG00000167971	ENST00000343516;ENST00000382453	T	0.45276	0.9	4.01	2.81	0.32909	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	.	.	.	.	T	0.46151	0.1378	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.21586	-1.0241	9	0.25751	T	0.34	-24.315	9.463	0.38796	0.8414:0.0:0.0:0.1585	.	488	Q8WXD9	CSKI1_HUMAN	P	488;317	ENSP00000345436:L488P	ENSP00000345436:L488P	L	-	2	0	CASKIN1	2173897	1.000000	0.71417	1.000000	0.80357	0.289000	0.27227	3.887000	0.56197	1.805000	0.52779	0.247000	0.18012	CTC	.	.		0.682	CASKIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435055.1	NM_020764	
RNPS1	10921	hgsc.bcm.edu	37	16	2305610	2305610	+	Missense_Mutation	SNP	C	C	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr16:2305610C>A	ENST00000565678.1	-	7	1339	c.794G>T	c.(793-795)aGg>aTg	p.R265M	RNPS1_ENST00000301730.8_Missense_Mutation_p.R265M|RNPS1_ENST00000397086.2_Missense_Mutation_p.R265M|RNPS1_ENST00000567147.1_Intron|RNPS1_ENST00000320225.5_Missense_Mutation_p.R265M|AC009065.1_ENST00000454671.1_Missense_Mutation_p.L118M|RNPS1_ENST00000566458.1_Missense_Mutation_p.R242M|RNPS1_ENST00000568631.1_Missense_Mutation_p.R265M|RNPS1_ENST00000569598.2_Missense_Mutation_p.R171M|RNPS1_ENST00000566397.1_Missense_Mutation_p.R88M|RNPS1_ENST00000561718.1_Missense_Mutation_p.R88M			Q15287	RNPS1_HUMAN	RNA binding protein S1, serine-rich domain	265	Arg/Pro-rich.|Necessary for interaction with TRA2B, nuclear localization and exon-skipping.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of apoptotic process (GO:0043065)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|large_intestine(1)|lung(4)|ovary(2)|urinary_tract(1)	9						TGGGGGAGACCTGCGCCACAT	0.577																																					p.R265M		Atlas-SNP	.											.	RNPS1	18	.	0			c.G794T						.						54.0	57.0	56.0					16																	2305610		2198	4300	6498	SO:0001583	missense	10921	exon7			GGAGACCTGCGCC	AF015608	CCDS10465.1, CCDS66907.1, CCDS73811.1	16p13.3	2013-02-12	2001-11-28		ENSG00000205937	ENSG00000205937		"""RNA binding motif (RRM) containing"""	10080	protein-coding gene	gene with protein product		606447	"""RNA-binding protein S1, serine-rich domain"""			9580558, 8543184	Standard	XM_005255048		Approved		uc002cpu.3	Q15287	OTTHUMG00000128828	ENST00000565678.1:c.794G>T	chr16.hg19:g.2305610C>A	ENSP00000457723:p.Arg265Met	175.0	0.0		91.0	4.0	NM_006711	A8K1P0|B4DDU8|B4DZU7|B7ZA17|O75308|Q32P25|Q8WY42|Q9NYG3	Missense_Mutation	SNP	ENST00000565678.1	hg19	CCDS10465.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.65|17.65	3.441055|3.441055	0.63067|0.63067	.|.	.|.	ENSG00000167970|ENSG00000205937	ENST00000454671|ENST00000320225;ENST00000397086;ENST00000301730	.|T;T;T	.|0.09630	.|2.96;2.96;2.96	5.08|5.08	5.08|5.08	0.68730|0.68730	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.31389|0.31389	0.0795|0.0795	M|M	0.73962|0.73962	2.25|2.25	0.80722|0.80722	D|D	1|1	.|D;D	.|0.58970	.|0.984;0.972	.|D;P	.|0.63877	.|0.919;0.831	T|T	0.00961|0.00961	-1.1499|-1.1499	5|10	.|0.46703	.|T	.|0.11	.|.	16.024|16.024	0.80528|0.80528	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|242;265	.|Q15287-2;Q15287	.|.;RNPS1_HUMAN	M|M	118|265	.|ENSP00000315859:R265M;ENSP00000380275:R265M;ENSP00000301730:R265M	.|ENSP00000301730:R265M	L|R	+|-	1|2	2|0	AC009065.1|RNPS1	2245611|2245611	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.936000|0.936000	0.57629|0.57629	7.006000|7.006000	0.76329|0.76329	2.623000|2.623000	0.88846|0.88846	0.544000|0.544000	0.68410|0.68410	CTG|AGG	.	.		0.577	RNPS1-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435415.1	NM_080594	
ABCA3	21	hgsc.bcm.edu	37	16	2358552	2358552	+	Missense_Mutation	SNP	C	C	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr16:2358552C>A	ENST00000301732.5	-	11	1884	c.1184G>T	c.(1183-1185)cGg>cTg	p.R395L	ABCA3_ENST00000382381.3_Intron	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	395					response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	alveolar lamellar body (GO:0097208)|alveolar lamellar body membrane (GO:0097233)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)			Imatinib(DB00619)	CCAGTTGTACCGAGGGGCCAC	0.572																																					p.R395L		Atlas-SNP	.											.	ABCA3	176	.	0			c.G1184T						.						125.0	104.0	111.0					16																	2358552		2198	4300	6498	SO:0001583	missense	21	exon11			TTGTACCGAGGGG	U78735	CCDS10466.1	16p13.3	2012-03-14			ENSG00000167972	ENSG00000167972		"""ATP binding cassette transporters / subfamily A"""	33	protein-coding gene	gene with protein product		601615		ABC3		8706931	Standard	NM_001089		Approved	ABC-C, EST111653, LBM180	uc002cpy.1	Q99758	OTTHUMG00000128845	ENST00000301732.5:c.1184G>T	chr16.hg19:g.2358552C>A	ENSP00000301732:p.Arg395Leu	153.0	0.0		85.0	4.0	NM_001089	B2RU09|Q54A95|Q6P5P9|Q92473	Missense_Mutation	SNP	ENST00000301732.5	hg19	CCDS10466.1	.	.	.	.	.	.	.	.	.	.	C	3.904	-0.021369	0.07634	.	.	ENSG00000167972	ENST00000301732	T	0.73469	-0.75	5.65	2.64	0.31445	.	.	.	.	.	T	0.63803	0.2542	L	0.54323	1.7	0.43137	D	0.99488	B;B	0.16802	0.019;0.019	B;B	0.20577	0.03;0.03	T	0.49952	-0.8884	9	0.12430	T	0.62	.	7.4918	0.27466	0.1353:0.7204:0.0:0.1443	.	395;395	A7MBM9;Q99758	.;ABCA3_HUMAN	L	395	ENSP00000301732:R395L	ENSP00000301732:R395L	R	-	2	0	ABCA3	2298553	1.000000	0.71417	0.000000	0.03702	0.004000	0.04260	5.856000	0.69518	0.324000	0.23333	0.650000	0.86243	CGG	.	.		0.572	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250784.2	NM_001089	
PRSS33	260429	hgsc.bcm.edu	37	16	2834720	2834720	+	Silent	SNP	G	G	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr16:2834720G>T	ENST00000293851.5	-	6	927	c.768C>A	c.(766-768)gcC>gcA	p.A256A	PRSS33_ENST00000576886.1_3'UTR|PRSS33_ENST00000570702.1_Silent_p.A256A	NM_152891.2	NP_690851.2	Q8NF86	PRS33_HUMAN	protease, serine, 33	256	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular space (GO:0005615)	serine-type endopeptidase activity (GO:0004252)			prostate(1)	1						GGTTGGGCAGGGCACAACCCT	0.622																																					p.A256A	NSCLC(194;489 2153 16702 19171 27758)	Atlas-SNP	.											.	PRSS33	7	.	0			c.C768A						.						26.0	31.0	29.0					16																	2834720		2074	4219	6293	SO:0001819	synonymous_variant	260429	exon6			GGGCAGGGCACAA	AF536382	CCDS42110.1	16p13.3	2014-09-04			ENSG00000103355	ENSG00000103355		"""Serine peptidases / Serine peptidases"""	30405	protein-coding gene	gene with protein product		613797				12795636	Standard	NM_152891		Approved	EOS	uc002cro.1	Q8NF86	OTTHUMG00000177360	ENST00000293851.5:c.768C>A	chr16.hg19:g.2834720G>T		143.0	0.0		99.0	4.0	NM_152891	A6NNQ3|Q8N171	Silent	SNP	ENST00000293851.5	hg19	CCDS42110.1																																																																																			.	.		0.622	PRSS33-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436446.1	NM_152891	
CREBBP	1387	hgsc.bcm.edu	37	16	3788625	3788625	+	Silent	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr16:3788625A>G	ENST00000262367.5	-	26	5138	c.4329T>C	c.(4327-4329)cgT>cgC	p.R1443R	CREBBP_ENST00000382070.3_Silent_p.R1405R	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1443	CBP/p300-type HAT. {ECO:0000255|PROSITE- ProRule:PRU01065}.|Cys/His-rich.				cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TGCGGAGGCAACGTGGCCGGA	0.408			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																														p.R1443R		Atlas-SNP	.		Dom/Rec	yes		16	16p13.3	1387	CREB binding protein (CBP)	yes	L	.	CREBBP	546	.	0			c.T4329C						.						78.0	70.0	72.0					16																	3788625		2197	4300	6497	SO:0001819	synonymous_variant	1387	exon26			GAGGCAACGTGGC	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.4329T>C	chr16.hg19:g.3788625A>G		102.0	0.0		89.0	4.0	NM_004380	D3DUC9|O00147|Q16376|Q4LE28	Silent	SNP	ENST00000262367.5	hg19	CCDS10509.1																																																																																			.	.		0.408	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380	
C16orf96	342346	hgsc.bcm.edu	37	16	4606555	4606555	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr16:4606555A>G	ENST00000444310.4	+	1	65	c.65A>G	c.(64-66)aAc>aGc	p.N22S		NM_001145011.1	NP_001138483.1			chromosome 16 open reading frame 96											NS(1)|breast(1)|endometrium(6)|kidney(1)|skin(3)	12						GGGGTGCTGAACTTCAAGGCC	0.612																																					p.N22S		Atlas-SNP	.											.	C16orf96	28	.	0			c.A65G						.						61.0	59.0	60.0					16																	4606555		692	1591	2283	SO:0001583	missense	342346	exon1			TGCTGAACTTCAA		CCDS53986.1	16p13.3	2012-10-10			ENSG00000205832	ENSG00000205832			40031	protein-coding gene	gene with protein product							Standard	NM_001145011		Approved		uc010uxn.2	A6NNT2	OTTHUMG00000176519	ENST00000444310.4:c.65A>G	chr16.hg19:g.4606555A>G	ENSP00000415027:p.Asn22Ser	94.0	0.0		84.0	4.0	NM_001145011		Missense_Mutation	SNP	ENST00000444310.4	hg19	CCDS53986.1	.	.	.	.	.	.	.	.	.	.	A	17.32	3.360907	0.61403	.	.	ENSG00000205832	ENST00000444310	.	.	.	5.22	5.22	0.72569	.	0.000000	0.53938	D	0.000053	T	0.69771	0.3148	M	0.69823	2.125	0.31962	N	0.608234	D	0.89917	1.0	D	0.83275	0.996	T	0.76921	-0.2780	9	0.87932	D	0	-27.0728	11.799	0.52116	1.0:0.0:0.0:0.0	.	22	A6NNT2	CP096_HUMAN	S	22	.	ENSP00000415027:N22S	N	+	2	0	C16orf96	4546556	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	5.914000	0.69964	2.095000	0.63458	0.533000	0.62120	AAC	.	.		0.612	C16orf96-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432384.1	NM_001145011	
C16orf71	146562	hgsc.bcm.edu	37	16	4793096	4793096	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr16:4793096A>G	ENST00000299320.5	+	5	1314	c.836A>G	c.(835-837)gAa>gGa	p.E279G	C16orf71_ENST00000590191.1_Missense_Mutation_p.E293G|RP11-127I20.7_ENST00000588099.1_RNA	NM_139170.2	NP_631909.2	Q8IYS4	CP071_HUMAN	chromosome 16 open reading frame 71	279										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)	11						GCGGGACAAGAAGACAACCAG	0.522																																					p.E279G		Atlas-SNP	.											.	C16orf71	46	.	0			c.A836G						.						165.0	140.0	149.0					16																	4793096		2197	4300	6497	SO:0001583	missense	146562	exon5			GACAAGAAGACAA	AF447587	CCDS10521.1	16p13.3	2008-02-05			ENSG00000166246	ENSG00000166246			25081	protein-coding gene	gene with protein product						12477932	Standard	XM_005255144		Approved	FLJ43261, DKFZp686H2240	uc002cxn.3	Q8IYS4	OTTHUMG00000129480	ENST00000299320.5:c.836A>G	chr16.hg19:g.4793096A>G	ENSP00000299320:p.Glu279Gly	126.0	0.0		86.0	4.0	NM_139170	Q8NCV0	Missense_Mutation	SNP	ENST00000299320.5	hg19	CCDS10521.1	.	.	.	.	.	.	.	.	.	.	A	16.02	3.004898	0.54254	.	.	ENSG00000166246	ENST00000299320;ENST00000411541	T	0.18016	2.24	4.65	2.32	0.28847	.	0.168881	0.28425	N	0.015399	T	0.15652	0.0377	L	0.52573	1.65	0.09310	N	1	P	0.46142	0.873	B	0.43575	0.424	T	0.12811	-1.0533	10	0.72032	D	0.01	-16.3339	4.6167	0.12430	0.7036:0.1955:0.1008:0.0	.	279	Q8IYS4	CP071_HUMAN	G	279;34	ENSP00000299320:E279G	ENSP00000299320:E279G	E	+	2	0	C16orf71	4733097	0.084000	0.21492	0.002000	0.10522	0.824000	0.46624	1.737000	0.38197	0.359000	0.24239	0.524000	0.50904	GAA	.	.		0.522	C16orf71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251644.1	NM_139170	
C16orf71	146562	hgsc.bcm.edu	37	16	4793141	4793141	+	Missense_Mutation	SNP	C	C	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr16:4793141C>A	ENST00000299320.5	+	5	1359	c.881C>A	c.(880-882)gCt>gAt	p.A294D	C16orf71_ENST00000590191.1_Missense_Mutation_p.A308D|RP11-127I20.7_ENST00000588099.1_RNA	NM_139170.2	NP_631909.2	Q8IYS4	CP071_HUMAN	chromosome 16 open reading frame 71	294										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)	11						TGGTGGGCAGCTGACCACCGC	0.572																																					p.A294D		Atlas-SNP	.											C16orf71,mucosal,malignant_melanoma,0,1	C16orf71	46	.	0			c.C881A						.						118.0	96.0	104.0					16																	4793141		2197	4300	6497	SO:0001583	missense	146562	exon5			GGGCAGCTGACCA	AF447587	CCDS10521.1	16p13.3	2008-02-05			ENSG00000166246	ENSG00000166246			25081	protein-coding gene	gene with protein product						12477932	Standard	XM_005255144		Approved	FLJ43261, DKFZp686H2240	uc002cxn.3	Q8IYS4	OTTHUMG00000129480	ENST00000299320.5:c.881C>A	chr16.hg19:g.4793141C>A	ENSP00000299320:p.Ala294Asp	65.0	0.0		49.0	4.0	NM_139170	Q8NCV0	Missense_Mutation	SNP	ENST00000299320.5	hg19	CCDS10521.1	.	.	.	.	.	.	.	.	.	.	C	12.85	2.062193	0.36373	.	.	ENSG00000166246	ENST00000299320;ENST00000411541	T	0.19806	2.12	4.92	2.9	0.33743	.	0.000000	0.41712	D	0.000821	T	0.35653	0.0939	L	0.59436	1.845	0.09310	N	0.99999	D	0.76494	0.999	D	0.76575	0.988	T	0.03608	-1.1020	10	0.66056	D	0.02	-12.4457	6.0551	0.19807	0.0:0.7056:0.1938:0.1006	.	294	Q8IYS4	CP071_HUMAN	D	294;49	ENSP00000299320:A294D	ENSP00000299320:A294D	A	+	2	0	C16orf71	4733142	0.349000	0.24870	0.501000	0.27601	0.078000	0.17371	0.516000	0.22817	1.382000	0.46385	0.644000	0.83932	GCT	.	.		0.572	C16orf71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251644.1	NM_139170	
ZNF500	26048	hgsc.bcm.edu	37	16	4802991	4802991	+	Silent	SNP	G	G	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr16:4802991G>T	ENST00000219478.6	-	6	1128	c.829C>A	c.(829-831)Cga>Aga	p.R277R	ZNF500_ENST00000591026.1_5'UTR|RP11-127I20.7_ENST00000588099.1_RNA|ZNF500_ENST00000545009.1_Silent_p.R277R			O60304	ZN500_HUMAN	zinc finger protein 500	277					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)			endometrium(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	21						GAGAGCACTCGGTACCACTCC	0.637																																					p.R277R		Atlas-SNP	.											.	ZNF500	45	.	0			c.C829A						.						49.0	58.0	55.0					16																	4802991		2197	4299	6496	SO:0001819	synonymous_variant	26048	exon6			GCACTCGGTACCA	AB011129	CCDS32383.1	16p13.3	2013-01-09				ENSG00000103199		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	23716	protein-coding gene	gene with protein product						9628581	Standard	XM_005255243		Approved	ZKSCAN18, KIAA0557, ZSCAN50	uc002cxp.1	O60304		ENST00000219478.6:c.829C>A	chr16.hg19:g.4802991G>T		57.0	0.0		40.0	4.0	NM_021646	A8K6X7|B4DNN9|Q0VAL2|Q96CQ8|Q9BTG0	Silent	SNP	ENST00000219478.6	hg19	CCDS32383.1																																																																																			.	.		0.637	ZNF500-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432461.1	XM_085507	
CLEC16A	23274	hgsc.bcm.edu	37	16	11114058	11114058	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr16:11114058A>G	ENST00000409790.1	+	12	1542	c.1312A>G	c.(1312-1314)Atg>Gtg	p.M438V	CLEC16A_ENST00000409552.3_Missense_Mutation_p.M420V	NM_015226.2	NP_056041.1			C-type lectin domain family 16, member A									p.0?(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						AGAGATCGAGATGGTGATCAT	0.527																																					p.M438V		Atlas-SNP	.											.	CLEC16A	101	.	1	Whole gene deletion(1)	haematopoietic_and_lymphoid_tissue(1)	c.A1312G						.						43.0	45.0	44.0					16																	11114058		1970	4163	6133	SO:0001583	missense	23274	exon11			ATCGAGATGGTGA	AB002348	CCDS45409.1, CCDS58423.1	16p13.13	2010-04-27	2007-07-17	2007-07-17	ENSG00000038532	ENSG00000038532		"""C-type lectin domain containing"""	29013	protein-coding gene	gene with protein product		611303	"""KIAA0350"""	KIAA0350		9205841, 17632545	Standard	NM_015226		Approved	Gop-1	uc002dao.3	Q2KHT3	OTTHUMG00000152915	ENST00000409790.1:c.1312A>G	chr16.hg19:g.11114058A>G	ENSP00000387122:p.Met438Val	137.0	0.0		85.0	4.0	NM_015226		Missense_Mutation	SNP	ENST00000409790.1	hg19	CCDS45409.1	.	.	.	.	.	.	.	.	.	.	A	18.38	3.610525	0.66558	.	.	ENSG00000038532	ENST00000409790;ENST00000542102;ENST00000409552	T	0.44083	0.93	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.52613	0.1745	L	0.57536	1.79	0.80722	D	1	P;P	0.47191	0.891;0.811	P;P	0.60789	0.867;0.879	T	0.48375	-0.9041	10	0.10636	T	0.68	-32.3322	11.5584	0.50761	1.0:0.0:0.0:0.0	.	438;420	Q2KHT3;Q2KHT3-2	CL16A_HUMAN;.	V	438;438;420	ENSP00000387122:M438V	ENSP00000386495:M420V	M	+	1	0	CLEC16A	11021559	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.884000	0.75600	1.980000	0.57719	0.459000	0.35465	ATG	.	.		0.527	CLEC16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328540.2	NM_015226	
PDXDC1	23042	hgsc.bcm.edu	37	16	15128199	15128199	+	Missense_Mutation	SNP	G	G	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr16:15128199G>T	ENST00000396410.4	+	20	1966	c.1869G>T	c.(1867-1869)gaG>gaT	p.E623D	PDXDC1_ENST00000535621.2_Intron|PDXDC1_ENST00000450288.2_Missense_Mutation_p.E595D|PDXDC1_ENST00000447912.2_Missense_Mutation_p.E532D|PDXDC1_ENST00000569715.1_Missense_Mutation_p.E596D|PDXDC1_ENST00000563679.1_Missense_Mutation_p.E641D|PDXDC1_ENST00000325823.7_Missense_Mutation_p.E608D	NM_015027.2	NP_055842.2	Q6P996	PDXD1_HUMAN	pyridoxal-dependent decarboxylase domain containing 1	623					carboxylic acid metabolic process (GO:0019752)	Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)	carboxy-lyase activity (GO:0016831)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CTCAAGTGGAGCTGCAGAAGG	0.552																																					p.E623D		Atlas-SNP	.											.	PDXDC1	59	.	0			c.G1869T						.						66.0	63.0	64.0					16																	15128199		2197	4300	6497	SO:0001583	missense	23042	exon20			AGTGGAGCTGCAG	AK025504, BX647809	CCDS32393.1, CCDS66954.1, CCDS66957.1, CCDS73830.1, CCDS73831.1	16p13.11	2008-02-05							28995	protein-coding gene	gene with protein product		614244					Standard	XM_005255173		Approved	KIAA0251	uc002dda.4	Q6P996	OTTHUMG00000166304	ENST00000396410.4:c.1869G>T	chr16.hg19:g.15128199G>T	ENSP00000379691:p.Glu623Asp	97.0	0.0		73.0	4.0	NM_015027	B4DR55|B4DSL3|E7EMH5|E7EPL4|H3BNZ1|O00236|Q4F6X7|Q6PID7|Q86YF1|Q8N4Q9|Q8TBS5	Missense_Mutation	SNP	ENST00000396410.4	hg19	CCDS32393.1	.	.	.	.	.	.	.	.	.	.	G	7.010	0.556575	0.13436	.	.	ENSG00000179889	ENST00000325823;ENST00000447912;ENST00000396410;ENST00000450288	T;T;T;T	0.71461	-0.57;-0.57;-0.57;-0.57	5.76	-2.86	0.05717	.	0.099987	0.64402	D	0.000001	T	0.30230	0.0758	N	0.01761	-0.735	0.24003	N	0.996208	B;B;B;B	0.28208	0.06;0.203;0.06;0.102	B;B;B;B	0.24006	0.05;0.05;0.05;0.05	T	0.47235	-0.9133	10	0.05833	T	0.94	-9.0895	6.6986	0.23213	0.4758:0.0:0.4124:0.1118	.	595;532;595;623	E7EPL4;E7EMH5;B4DR55;Q6P996	.;.;.;PDXD1_HUMAN	D	608;532;623;595	ENSP00000322807:E608D;ENSP00000400310:E532D;ENSP00000379691:E623D;ENSP00000391147:E595D	ENSP00000322807:E608D	E	+	3	2	PDXDC1	15035700	1.000000	0.71417	0.932000	0.37286	0.882000	0.50991	0.559000	0.23485	-0.420000	0.07427	-0.140000	0.14226	GAG	.	.		0.552	PDXDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389065.2	NM_015027	
XYLT1	64131	hgsc.bcm.edu	37	16	17235219	17235219	+	Silent	SNP	G	G	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr16:17235219G>T	ENST00000261381.6	-	7	1462	c.1378C>A	c.(1378-1380)Cgg>Agg	p.R460R	CTD-2576D5.4_ENST00000567344.1_RNA	NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	460					cellular response to heat (GO:0034605)|chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CCCTGCTTCCGAATGAACCTG	0.572																																					p.R460R		Atlas-SNP	.											XYLT1,NS,carcinoma,0,1	XYLT1	147	.	0			c.C1378A						.						40.0	39.0	40.0					16																	17235219		2197	4300	6497	SO:0001819	synonymous_variant	64131	exon7			GCTTCCGAATGAA	AJ277441	CCDS10569.1	16p12	2013-02-25			ENSG00000103489	ENSG00000103489	2.4.2.26	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	15516	protein-coding gene	gene with protein product	"""protein xylosyltransferase 1"""	608124				11099377	Standard	NM_022166		Approved	XT-I, PXYLT1	uc002dfa.3	Q86Y38	OTTHUMG00000129975	ENST00000261381.6:c.1378C>A	chr16.hg19:g.17235219G>T		39.0	0.0		27.0	2.0	NM_022166	Q9H1B6	Silent	SNP	ENST00000261381.6	hg19	CCDS10569.1																																																																																			.	.		0.572	XYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252241.2	NM_022166	
DNAH3	55567	hgsc.bcm.edu	37	16	20974803	20974803	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr16:20974803T>C	ENST00000261383.3	-	53	10402	c.10403A>G	c.(10402-10404)cAa>cGa	p.Q3468R	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3468					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CTCCAATCCTTGAGAGAACTT	0.512																																					p.Q3468R		Atlas-SNP	.											.	DNAH3	1142	.	0			c.A10403G						.						89.0	73.0	78.0					16																	20974803		2201	4300	6501	SO:0001583	missense	55567	exon53			AATCCTTGAGAGA	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.10403A>G	chr16.hg19:g.20974803T>C	ENSP00000261383:p.Gln3468Arg	99.0	0.0		78.0	4.0	NM_017539	O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	hg19	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	T	0.015	-1.559554	0.00910	.	.	ENSG00000158486	ENST00000261383	T	0.08193	3.12	5.39	3.08	0.35506	Dynein heavy chain (1);	1.297190	0.04812	N	0.435494	T	0.07954	0.0199	N	0.11927	0.2	0.09310	N	1	B	0.16603	0.018	B	0.23716	0.048	T	0.48328	-0.9045	10	0.42905	T	0.14	.	13.395	0.60846	0.0:0.0:0.4622:0.5378	.	3468	Q8TD57	DYH3_HUMAN	R	3468	ENSP00000261383:Q3468R	ENSP00000261383:Q3468R	Q	-	2	0	DNAH3	20882304	0.000000	0.05858	0.000000	0.03702	0.097000	0.18754	0.078000	0.14761	0.327000	0.23409	0.460000	0.39030	CAA	.	.		0.512	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539	
DNAH3	55567	hgsc.bcm.edu	37	16	21008757	21008757	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr16:21008757A>G	ENST00000261383.3	-	44	6448	c.6449T>C	c.(6448-6450)gTg>gCg	p.V2150A	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2150	AAA 3. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GGCCCCATACACCTCTTTGGC	0.507																																					p.V2150A		Atlas-SNP	.											.	DNAH3	1142	.	0			c.T6449C						.						101.0	95.0	97.0					16																	21008757		2201	4300	6501	SO:0001583	missense	55567	exon44			CCATACACCTCTT	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.6449T>C	chr16.hg19:g.21008757A>G	ENSP00000261383:p.Val2150Ala	150.0	0.0		104.0	5.0	NM_017539	O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	hg19	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	A	7.686	0.690021	0.15039	.	.	ENSG00000158486	ENST00000261383	T	0.32753	1.44	5.16	4.06	0.47325	ATPase, AAA+ type, core (1);	0.721979	0.13122	N	0.412103	T	0.17662	0.0424	N	0.17564	0.495	0.46701	D	0.999162	B	0.19200	0.034	B	0.16289	0.015	T	0.04307	-1.0961	10	0.12430	T	0.62	.	9.608	0.39645	0.8516:0.0:0.1484:0.0	.	2150	Q8TD57	DYH3_HUMAN	A	2150	ENSP00000261383:V2150A	ENSP00000261383:V2150A	V	-	2	0	DNAH3	20916258	0.014000	0.17966	0.967000	0.41034	0.942000	0.58702	2.796000	0.47869	0.810000	0.34279	0.528000	0.53228	GTG	.	.		0.507	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539	
GGA2	23062	hgsc.bcm.edu	37	16	23489698	23489698	+	Missense_Mutation	SNP	G	G	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr16:23489698G>T	ENST00000309859.4	-	13	1365	c.1283C>A	c.(1282-1284)cCg>cAg	p.P428Q	GGA2_ENST00000567468.1_Intron|GGA2_ENST00000569182.1_5'UTR	NM_015044.4	NP_055859.1	Q9UJY4	GGA2_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 2	428	Unstructured hinge.				intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(48;0.0386)		CAGAGGGCACGGAGCTGGCTG	0.582																																					p.P428Q		Atlas-SNP	.											.	GGA2	49	.	0			c.C1283A						.						94.0	86.0	89.0					16																	23489698		2197	4300	6497	SO:0001583	missense	23062	exon13			GGGCACGGAGCTG	AF190863	CCDS10611.1	16p12	2010-02-12	2010-02-12		ENSG00000103365	ENSG00000103365			16064	protein-coding gene	gene with protein product		606005				10747088, 10749927	Standard	NM_015044		Approved	VEAR, KIAA1080	uc002dlq.3	Q9UJY4	OTTHUMG00000096957	ENST00000309859.4:c.1283C>A	chr16.hg19:g.23489698G>T	ENSP00000311962:p.Pro428Gln	146.0	0.0		87.0	4.0	NM_015044	D3DWF0|O14564|Q9NYN2|Q9UPS2	Missense_Mutation	SNP	ENST00000309859.4	hg19	CCDS10611.1	.	.	.	.	.	.	.	.	.	.	G	6.743	0.505926	0.12883	.	.	ENSG00000103365	ENST00000309859	T	0.16597	2.33	4.15	1.15	0.20763	.	1.116690	0.07031	N	0.828502	T	0.16128	0.0388	L	0.51422	1.61	0.09310	N	1	B	0.19445	0.036	B	0.14023	0.01	T	0.31696	-0.9934	10	0.44086	T	0.13	-4.3035	5.9296	0.19132	0.3299:0.0:0.6701:0.0	.	428	Q9UJY4	GGA2_HUMAN	Q	428	ENSP00000311962:P428Q	ENSP00000311962:P428Q	P	-	2	0	GGA2	23397199	0.001000	0.12720	0.001000	0.08648	0.000000	0.00434	0.414000	0.21164	0.519000	0.28406	-0.751000	0.03497	CCG	.	.		0.582	GGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214019.1		
KIAA0556	23247	hgsc.bcm.edu	37	16	27640026	27640026	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr16:27640026T>C	ENST00000261588.4	+	4	204	c.185T>C	c.(184-186)cTg>cCg	p.L62P		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	62						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						CAATTGAGGCTGGAGCACTTG	0.478																																					p.L62P		Atlas-SNP	.											.	KIAA0556	348	.	0			c.T185C						.						150.0	139.0	143.0					16																	27640026		2197	4300	6497	SO:0001583	missense	23247	exon4			TGAGGCTGGAGCA	AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578			29068	protein-coding gene	gene with protein product						9628581	Standard	NM_015202		Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.185T>C	chr16.hg19:g.27640026T>C	ENSP00000261588:p.Leu62Pro	159.0	0.0		91.0	4.0	NM_015202	A7E2C2	Missense_Mutation	SNP	ENST00000261588.4	hg19	CCDS32415.1	.	.	.	.	.	.	.	.	.	.	T	19.54	3.847667	0.71603	.	.	ENSG00000047578	ENST00000261588	T	0.56103	0.48	5.21	5.21	0.72293	.	0.105307	0.39020	N	0.001498	T	0.70254	0.3203	M	0.72894	2.215	0.58432	D	0.99999	D	0.89917	1.0	D	0.91635	0.999	T	0.74022	-0.3798	10	0.87932	D	0	-4.1322	12.6144	0.56567	0.0:0.0:0.0:1.0	.	62	O60303	K0556_HUMAN	P	62	ENSP00000261588:L62P	ENSP00000261588:L62P	L	+	2	0	KIAA0556	27547527	1.000000	0.71417	0.960000	0.40013	0.987000	0.75469	4.806000	0.62569	1.973000	0.57446	0.454000	0.30748	CTG	.	.		0.478	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433724.1	NM_015202	
CLN3	1201	hgsc.bcm.edu	37	16	28489132	28489132	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr16:28489132A>G	ENST00000569430.1	-	16	1942	c.1123T>C	c.(1123-1125)Ttc>Ctc	p.F375L	CLN3_ENST00000357857.9_Missense_Mutation_p.F321L|CLN3_ENST00000568224.1_Missense_Mutation_p.F297L|CLN3_ENST00000354630.5_Missense_Mutation_p.F358L|CLN3_ENST00000360019.2_Missense_Mutation_p.F375L|CLN3_ENST00000355477.5_Missense_Mutation_p.F327L|CLN3_ENST00000333496.9_Missense_Mutation_p.F351L|CLN3_ENST00000567963.1_Intron|CLN3_ENST00000395653.4_Missense_Mutation_p.F275L|CLN3_ENST00000565316.1_Missense_Mutation_p.F358L|CLN3_ENST00000357806.7_Missense_Mutation_p.F276L|CLN3_ENST00000359984.7_Missense_Mutation_p.F375L|CLN3_ENST00000535392.1_Missense_Mutation_p.F297L			Q13286	CLN3_HUMAN	ceroid-lipofuscinosis, neuronal 3	375					action potential (GO:0001508)|amyloid precursor protein catabolic process (GO:0042987)|arginine transport (GO:0015809)|associative learning (GO:0008306)|autophagic vacuole fusion (GO:0000046)|cell death (GO:0008219)|cellular amino acid metabolic process (GO:0006520)|ceramide metabolic process (GO:0006672)|cytosolic calcium ion homeostasis (GO:0051480)|galactosylceramide metabolic process (GO:0006681)|globoside metabolic process (GO:0001575)|glucosylceramide metabolic process (GO:0006678)|ionotropic glutamate receptor signaling pathway (GO:0035235)|lysosomal lumen acidification (GO:0007042)|lysosomal lumen pH elevation (GO:0035752)|lysosome organization (GO:0007040)|macroautophagy (GO:0016236)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of macroautophagy (GO:0016242)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of proteolysis (GO:0045861)|neuromuscular process controlling balance (GO:0050885)|neurotransmitter metabolic process (GO:0042133)|protein catabolic process (GO:0030163)|protein processing (GO:0016485)|receptor-mediated endocytosis (GO:0006898)|sphingomyelin metabolic process (GO:0006684)|vacuolar transport (GO:0007034)|vesicle transport along microtubule (GO:0047496)	autophagic vacuole (GO:0005776)|caveola (GO:0005901)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|trans-Golgi network (GO:0005802)	unfolded protein binding (GO:0051082)			breast(1)|large_intestine(2)|lung(11)|upper_aerodigestive_tract(1)	15						ATGATCAGGAAGACGAGGTAG	0.597																																					p.F375L		Atlas-SNP	.											.	CLN3	33	.	0			c.T1123C						.						78.0	77.0	77.0					16																	28489132		2197	4300	6497	SO:0001583	missense	1201	exon15			TCAGGAAGACGAG	U32680	CCDS10632.1, CCDS73852.1, CCDS73853.1, CCDS73854.1, CCDS73855.1	16p12	2014-09-17	2008-07-29		ENSG00000188603	ENSG00000188603			2074	protein-coding gene	gene with protein product	"""juvenile neuronal ceroid lipofuscinosis"""	607042	"""Batten, Spielmeyer-Vogt disease"""	BTS		18317235	Standard	NM_001042432		Approved	JNCL	uc002dpp.3	Q13286	OTTHUMG00000097024	ENST00000569430.1:c.1123T>C	chr16.hg19:g.28489132A>G	ENSP00000454229:p.Phe375Leu	113.0	0.0		71.0	4.0	NM_001042432	B2R7J1|O00668|O95089|Q549S9|Q9UP09|Q9UP11|Q9UP12|Q9UP13|Q9UP14	Missense_Mutation	SNP	ENST00000569430.1	hg19	CCDS10632.1	.	.	.	.	.	.	.	.	.	.	a	22.8	4.336462	0.81801	.	.	ENSG00000188603	ENST00000535392;ENST00000359984;ENST00000360019;ENST00000354630;ENST00000355477;ENST00000357857;ENST00000395653;ENST00000357806	D;D;D;D;D;D;D;D	0.95821	-3.82;-3.82;-3.82;-3.82;-3.82;-3.82;-3.82;-3.82	5.29	5.29	0.74685	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.96719	0.8929	M	0.63428	1.95	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	0.999;0.998;0.999;0.999;0.997;0.999;0.999;1.0	D;D;D;D;D;D;D;D	0.87578	0.994;0.987;0.998;0.998;0.969;0.99;0.969;0.998	D	0.95735	0.8778	10	0.30078	T	0.28	-23.8521	13.1832	0.59666	1.0:0.0:0.0:0.0	.	351;358;273;275;321;327;375;276	B4DXL3;Q13286-3;O95086;B4DMY6;B4DFF3;Q13286-2;Q13286;O95089	.;.;.;.;.;.;CLN3_HUMAN;.	L	297;375;375;358;327;321;275;276	ENSP00000443221:F297L;ENSP00000353073:F375L;ENSP00000353116:F375L;ENSP00000346650:F358L;ENSP00000347660:F327L;ENSP00000350523:F321L;ENSP00000379014:F275L;ENSP00000350457:F276L	ENSP00000346650:F358L	F	-	1	0	CLN3	28396633	1.000000	0.71417	0.994000	0.49952	0.792000	0.44763	5.026000	0.64103	2.013000	0.59113	0.454000	0.30748	TTC	.	.		0.597	CLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214115.2		
SH2B1	25970	hgsc.bcm.edu	37	16	28883910	28883910	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr16:28883910T>C	ENST00000322610.8	+	10	2220	c.1781T>C	c.(1780-1782)tTc>tCc	p.F594S	SH2B1_ENST00000337120.5_Missense_Mutation_p.F594S|SH2B1_ENST00000395532.4_Missense_Mutation_p.F594S|SH2B1_ENST00000359285.5_Missense_Mutation_p.F594S|SH2B1_ENST00000563674.1_Intron|SH2B1_ENST00000545570.1_Missense_Mutation_p.F284S|SH2B1_ENST00000538342.1_Missense_Mutation_p.F258S			Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1	594	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|intracellular signal transduction (GO:0035556)|lamellipodium assembly (GO:0030032)|positive regulation of mitosis (GO:0045840)|regulation of DNA biosynthetic process (GO:2000278)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						CACCTGTGGTTCCAGTCCATT	0.607																																					p.F594S		Atlas-SNP	.											.	SH2B1	160	.	0			c.T1781C						.						151.0	131.0	138.0					16																	28883910		2197	4300	6497	SO:0001583	missense	25970	exon8			TGTGGTTCCAGTC	AK055104	CCDS32424.1, CCDS53996.1, CCDS53997.1	16p11.2	2013-02-14						"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	30417	protein-coding gene	gene with protein product	"""SH2-B homolog"""	608937				11827956, 10594240	Standard	NM_001145812		Approved	FLJ30542, SH2B	uc002drl.3	Q9NRF2		ENST00000322610.8:c.1781T>C	chr16.hg19:g.28883910T>C	ENSP00000321221:p.Phe594Ser	219.0	0.0		161.0	7.0	NM_001145796	A8K2R7|Q96FK3|Q96SX3|Q9NRF1|Q9NRF3|Q9P2P7|Q9Y3Y3	Missense_Mutation	SNP	ENST00000322610.8	hg19	CCDS53996.1	.	.	.	.	.	.	.	.	.	.	t	20.7	4.032473	0.75504	.	.	ENSG00000178188	ENST00000322610;ENST00000545570;ENST00000359285;ENST00000538342;ENST00000395532;ENST00000337120	D;D;D;D;D;D	0.98362	-4.89;-4.89;-4.89;-4.89;-4.89;-4.89	5.23	5.23	0.72850	SH2 motif (5);	0.000000	0.85682	D	0.000000	D	0.99293	0.9753	H	0.97131	3.945	0.58432	D	0.999996	D;D;D;D;D	0.89917	0.998;1.0;0.997;0.999;1.0	D;D;D;D;D	0.91635	0.982;0.999;0.99;0.99;0.999	D	0.98805	1.0741	10	0.62326	D	0.03	-17.4899	14.1061	0.65091	0.0:0.0:0.0:1.0	.	258;284;594;594;594	B4DLN5;F5GXU7;Q9NRF2-2;Q9NRF2-3;Q9NRF2	.;.;.;.;SH2B1_HUMAN	S	594;284;594;258;594;594	ENSP00000321221:F594S;ENSP00000440354:F284S;ENSP00000352232:F594S;ENSP00000438784:F258S;ENSP00000378903:F594S;ENSP00000337163:F594S	ENSP00000321221:F594S	F	+	2	0	SH2B1	28791411	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.577000	0.82486	1.970000	0.57323	0.529000	0.55759	TTC	.	.		0.607	SH2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000432666.1	NM_015503	
ZNF688	146542	hgsc.bcm.edu	37	16	30582420	30582420	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr16:30582420A>G	ENST00000223459.6	-	2	1325	c.221T>C	c.(220-222)cTc>cCc	p.L74P	ZNF688_ENST00000395219.1_Missense_Mutation_p.L60P|ZNF688_ENST00000567855.1_Missense_Mutation_p.L74P|AC002310.7_ENST00000492040.1_RNA|ZNF688_ENST00000563707.1_Intron|AC002310.7_ENST00000486926.1_RNA	NM_145271.3	NP_660314.1	P0C7X2	ZN688_HUMAN	zinc finger protein 688	74	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)			endometrium(3)|large_intestine(2)|lung(2)|ovary(1)	8						CCAAGAGATGAGGGCTGGTTT	0.627																																					p.L74P		Atlas-SNP	.											.	ZNF688	37	.	0			c.T221C						.						35.0	37.0	36.0					16																	30582420		2197	4300	6497	SO:0001583	missense	146542	exon2			GAGATGAGGGCTG	AK122680	CCDS10684.1	16p11.2	2013-01-08			ENSG00000229809	ENSG00000229809		"""Zinc fingers, C2H2-type"", ""-"""	30489	protein-coding gene	gene with protein product						10493829	Standard	XM_005255139		Approved		uc002dys.2	P0C7X2	OTTHUMG00000132408	ENST00000223459.6:c.221T>C	chr16.hg19:g.30582420A>G	ENSP00000223459:p.Leu74Pro	94.0	0.0		64.0	4.0	NM_145271	A8MV39|B3KV51|O75701|Q8IW91|Q8WV14|Q96MN0	Missense_Mutation	SNP	ENST00000223459.6	hg19	CCDS10684.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.333769	0.81801	.	.	ENSG00000229809	ENST00000395219;ENST00000223459	T;T	0.05447	3.44;5.48	5.2	5.2	0.72013	Krueppel-associated box (3);	.	.	.	.	T	0.22589	0.0545	M	0.73217	2.22	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.00202	-1.1925	9	0.87932	D	0	.	11.636	0.51204	1.0:0.0:0.0:0.0	.	74;60	P0C7X2;A8MV39	ZN688_HUMAN;.	P	60;74	ENSP00000378645:L60P;ENSP00000223459:L74P	ENSP00000223459:L74P	L	-	2	0	ZNF688	30489921	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.527000	0.60573	2.308000	0.77769	0.533000	0.62120	CTC	.	.		0.627	ZNF688-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255544.2	NM_145271	
PRSS8	5652	hgsc.bcm.edu	37	16	31143805	31143805	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr16:31143805A>G	ENST00000317508.6	-	5	913	c.650T>C	c.(649-651)gTc>gCc	p.V217A	PRSS8_ENST00000568261.1_Missense_Mutation_p.V163A|RP11-388M20.2_ENST00000563605.1_RNA	NM_002773.3	NP_002764.1	Q16651	PRSS8_HUMAN	protease, serine, 8	217	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				positive regulation of sodium ion transport (GO:0010765)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)	8						GTCCTCTTGGACAAAGTGCGG	0.597																																					p.V217A		Atlas-SNP	.											.	PRSS8	24	.	0			c.T650C						.						100.0	105.0	104.0					16																	31143805		2101	4219	6320	SO:0001583	missense	5652	exon5			TCTTGGACAAAGT	U33446	CCDS45469.1	16p11.2	2010-05-07	2007-02-21			ENSG00000052344		"""Serine peptidases / Serine peptidases"""	9491	protein-coding gene	gene with protein product	"""prostasin"""	600823				8838796, 7768952	Standard	NM_002773		Approved		uc002ebc.4	Q16651		ENST00000317508.6:c.650T>C	chr16.hg19:g.31143805A>G	ENSP00000319730:p.Val217Ala	121.0	0.0		92.0	7.0	NM_002773	B4DWP2|Q9UCA3	Missense_Mutation	SNP	ENST00000317508.6	hg19	CCDS45469.1	.	.	.	.	.	.	.	.	.	.	A	16.61	3.169861	0.57584	.	.	ENSG00000052344	ENST00000317508;ENST00000419768	D	0.90900	-2.75	5.51	5.51	0.81932	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.207589	0.33753	N	0.004582	D	0.86239	0.5885	N	0.20445	0.575	0.20638	N	0.999877	P;P	0.46142	0.873;0.873	P;P	0.44946	0.465;0.465	T	0.81895	-0.0723	10	0.87932	D	0	.	14.6064	0.68481	1.0:0.0:0.0:0.0	.	163;217	B4DWP2;Q16651	.;PRSS8_HUMAN	A	217;135	ENSP00000319730:V217A	ENSP00000319730:V217A	V	-	2	0	PRSS8	31051306	1.000000	0.71417	0.159000	0.22649	0.791000	0.44710	3.278000	0.51662	2.098000	0.63641	0.459000	0.35465	GTC	.	.		0.597	PRSS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433536.1	NM_002773	
PRSS36	146547	hgsc.bcm.edu	37	16	31151659	31151659	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr16:31151659T>C	ENST00000268281.4	-	14	2303	c.2245A>G	c.(2245-2247)Acc>Gcc	p.T749A	PRSS36_ENST00000569305.1_Missense_Mutation_p.T744A|PRSS36_ENST00000418068.2_Intron	NM_001258290.1|NM_173502.4	NP_001245219.1|NP_775773.2	Q5K4E3	POLS2_HUMAN	protease, serine, 36	749	Peptidase S1 3. {ECO:0000255|PROSITE- ProRule:PRU00274}.					cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)	serine-type endopeptidase activity (GO:0004252)			kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						ACACAGAGGGTTCCAGGGGGC	0.587																																					p.T749A		Atlas-SNP	.											.	PRSS36	50	.	0			c.A2245G						.						73.0	71.0	72.0					16																	31151659		2197	4300	6497	SO:0001583	missense	146547	exon14			AGAGGGTTCCAGG	AK075142	CCDS32436.1, CCDS58452.1, CCDS58453.1	16p11.2	2014-09-04			ENSG00000178226			"""Serine peptidases / Serine peptidases"""	26906	protein-coding gene	gene with protein product	"""polyserase 2"""	610560				15536082	Standard	NM_173502		Approved	FLJ90661	uc002ebd.4	Q5K4E3	OTTHUMG00000176751	ENST00000268281.4:c.2245A>G	chr16.hg19:g.31151659T>C	ENSP00000268281:p.Thr749Ala	162.0	0.0		98.0	4.0	NM_173502	A8K2P5|B4DW80|B7ZMK8|E7EX56|Q8NBY4	Missense_Mutation	SNP	ENST00000268281.4	hg19	CCDS32436.1	.	.	.	.	.	.	.	.	.	.	T	11.37	1.617719	0.28801	.	.	ENSG00000178226	ENST00000268281	T	0.59502	0.26	4.92	2.47	0.30058	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	T	0.56673	0.2001	N	0.20807	0.61	0.09310	N	1	D;D	0.69078	0.997;0.997	D;D	0.79108	0.992;0.992	T	0.40701	-0.9549	9	0.72032	D	0.01	.	4.6071	0.12383	0.0:0.1024:0.1956:0.702	.	744;749	B7ZMK8;Q5K4E3	.;POLS2_HUMAN	A	749	ENSP00000268281:T749A	ENSP00000268281:T749A	T	-	1	0	PRSS36	31059160	0.128000	0.22383	0.108000	0.21378	0.223000	0.24884	1.260000	0.32968	0.829000	0.34733	0.454000	0.30748	ACC	.	.		0.587	PRSS36-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000433542.1	NM_173502	
ZNF267	10308	hgsc.bcm.edu	37	16	31926790	31926790	+	Missense_Mutation	SNP	C	C	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr16:31926790C>A	ENST00000300870.10	+	4	1429	c.1220C>A	c.(1219-1221)cCa>cAa	p.P407Q		NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405	Q14586	ZN267_HUMAN	zinc finger protein 267	407					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						GGAGAGAAACCATACAAATGT	0.353																																					p.P407Q		Atlas-SNP	.											.	ZNF267	94	.	0			c.C1220A						.						45.0	50.0	49.0					16																	31926790		2197	4298	6495	SO:0001583	missense	10308	exon4			AGAAACCATACAA	X78925	CCDS32440.1	16p11.2	2013-01-08			ENSG00000185947	ENSG00000185947		"""Zinc fingers, C2H2-type"", ""-"""	13060	protein-coding gene	gene with protein product		604752				7865130	Standard	NM_003414		Approved	HZF2	uc002ecs.5	Q14586		ENST00000300870.10:c.1220C>A	chr16.hg19:g.31926790C>A	ENSP00000300870:p.Pro407Gln	100.0	0.0		49.0	4.0	NM_003414	A0JNZ9|Q8NE41|Q9NRJ0	Missense_Mutation	SNP	ENST00000300870.10	hg19	CCDS32440.1	.	.	.	.	.	.	.	.	.	.	.	21.3	4.123892	0.77436	.	.	ENSG00000185947	ENST00000300870	T	0.28454	1.61	0.458	0.458	0.16670	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.50394	0.1613	M	0.80508	2.5	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	T	0.51529	-0.8694	9	0.87932	D	0	.	6.6931	0.23183	0.0:0.9999:0.0:1.0E-4	.	407	Q14586	ZN267_HUMAN	Q	407	ENSP00000300870:P407Q	ENSP00000300870:P407Q	P	+	2	0	ZNF267	31834291	0.995000	0.38212	0.945000	0.38365	0.936000	0.57629	5.363000	0.66104	0.482000	0.27582	0.484000	0.47621	CCA	.	.		0.353	ZNF267-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432446.2	NM_003414	
PHKB	5257	hgsc.bcm.edu	37	16	47698853	47698853	+	Silent	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr16:47698853A>G	ENST00000323584.5	+	25	2418	c.2394A>G	c.(2392-2394)ccA>ccG	p.P798P	PHKB_ENST00000455779.1_Silent_p.P791P|PHKB_ENST00000566044.1_Intron|PHKB_ENST00000299167.8_Intron	NM_000293.2	NP_000284.1	Q93100	KPBB_HUMAN	phosphorylase kinase, beta	798					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				CTATAGCCCCACACATTACTA	0.448																																					p.P798P		Atlas-SNP	.											.	PHKB	298	.	0			c.A2394G						.						79.0	70.0	73.0					16																	47698853		2201	4300	6501	SO:0001819	synonymous_variant	5257	exon25			AGCCCCACACATT		CCDS10729.1, CCDS42161.1	16q12-q13	2009-07-10			ENSG00000102893	ENSG00000102893	2.7.11.19		8927	protein-coding gene	gene with protein product		172490					Standard	NM_000293		Approved		uc002eev.4	Q93100	OTTHUMG00000133102	ENST00000323584.5:c.2394A>G	chr16.hg19:g.47698853A>G		124.0	0.0		88.0	4.0	NM_000293	Q8N4T5	Silent	SNP	ENST00000323584.5	hg19	CCDS10729.1																																																																																			.	.		0.448	PHKB-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000430413.1		
N4BP1	9683	hgsc.bcm.edu	37	16	48595790	48595790	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr16:48595790A>G	ENST00000262384.3	-	2	1000	c.764T>C	c.(763-765)cTt>cCt	p.L255P	RP11-44I10.3_ENST00000563994.1_RNA	NM_153029.3	NP_694574.3	O75113	N4BP1_HUMAN	NEDD4 binding protein 1	255					cellular response to UV (GO:0034644)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of protein ubiquitination (GO:0031397)	nucleolus (GO:0005730)|PML body (GO:0016605)				breast(3)|kidney(2)|lung(11)|urinary_tract(1)	17		all_cancers(37;0.179)|all_lung(18;0.11)				TGAGCTAGAAAGGACTGTGTC	0.403																																					p.L255P		Atlas-SNP	.											.	N4BP1	121	.	0			c.T764C						.						68.0	64.0	65.0					16																	48595790		1876	4085	5961	SO:0001583	missense	9683	exon2			CTAGAAAGGACTG	AK026937	CCDS45479.1	16q12.1	2008-01-18				ENSG00000102921			29850	protein-coding gene	gene with protein product						9734811, 11717310	Standard	NM_153029		Approved		uc002efp.3	O75113		ENST00000262384.3:c.764T>C	chr16.hg19:g.48595790A>G	ENSP00000262384:p.Leu255Pro	227.0	0.0		137.0	6.0	NM_153029	A7MD49|Q2YDX1	Missense_Mutation	SNP	ENST00000262384.3	hg19	CCDS45479.1	.	.	.	.	.	.	.	.	.	.	A	7.468	0.646153	0.14451	.	.	ENSG00000102921	ENST00000262384	T	0.47869	0.83	5.75	4.67	0.58626	.	0.147156	0.43747	D	0.000525	T	0.30070	0.0753	N	0.08118	0	0.41511	D	0.98834	B	0.33448	0.412	B	0.35353	0.201	T	0.24440	-1.0160	10	0.72032	D	0.01	-7.5536	11.6399	0.51227	0.9309:0.0:0.0691:0.0	.	255	O75113	N4BP1_HUMAN	P	255	ENSP00000262384:L255P	ENSP00000262384:L255P	L	-	2	0	N4BP1	47153291	1.000000	0.71417	0.016000	0.15963	0.070000	0.16714	6.831000	0.75324	1.016000	0.39470	-0.250000	0.11733	CTT	.	.		0.403	N4BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429920.1	NM_014664	
ZNF423	23090	hgsc.bcm.edu	37	16	49671524	49671524	+	Silent	SNP	A	A	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr16:49671524A>T	ENST00000561648.1	-	4	1592	c.1539T>A	c.(1537-1539)ggT>ggA	p.G513G	ZNF423_ENST00000562871.1_Silent_p.G453G|ZNF423_ENST00000567169.1_Silent_p.G396G|ZNF423_ENST00000562520.1_Silent_p.G453G|ZNF423_ENST00000535559.1_Silent_p.G396G|ZNF423_ENST00000262383.2_Silent_p.G513G|ZNF423_ENST00000563137.2_Silent_p.G453G	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	513					cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of BMP signaling pathway (GO:0030513)|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)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				AAGCATTATTACCGTCAGAGG	0.587																																					p.G513G		Atlas-SNP	.											.	ZNF423	463	.	0			c.T1539A						.						86.0	85.0	85.0					16																	49671524		2198	4300	6498	SO:0001819	synonymous_variant	23090	exon4			ATTATTACCGTCA	AB018303	CCDS32445.1, CCDS61930.1	16q12	2014-01-28				ENSG00000102935		"""Zinc fingers, C2H2-type"""	16762	protein-coding gene	gene with protein product	"""OLF-1/EBF associated zinc finger gene"", "" Smad- and Olf-interacting zinc finger protein"", ""early B-cell factor associated zinc finger protein"""	604557				9872452, 10660046	Standard	NM_001271620		Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	Q2M1K9		ENST00000561648.1:c.1539T>A	chr16.hg19:g.49671524A>T		80.0	0.0		54.0	4.0	NM_015069	O94860|Q76N04|Q9NZ13	Silent	SNP	ENST00000561648.1	hg19	CCDS32445.1																																																																																			.	.		0.587	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000423258.1	NM_015069	
HEATR3	55027	hgsc.bcm.edu	37	16	50120179	50120179	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr16:50120179T>C	ENST00000299192.7	+	11	1618	c.1427T>C	c.(1426-1428)cTc>cCc	p.L476P	HEATR3_ENST00000285767.4_Missense_Mutation_p.L390P|HEATR3_ENST00000564942.1_3'UTR	NM_182922.2	NP_891552.1	Q7Z4Q2	HEAT3_HUMAN	HEAT repeat containing 3	476										cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						CTTGTGTCCCTCCTGGATGTG	0.498																																					p.L476P		Atlas-SNP	.											.	HEATR3	59	.	0			c.T1427C						.						43.0	36.0	39.0					16																	50120179		2198	4298	6496	SO:0001583	missense	55027	exon11			TGTCCCTCCTGGA	BC018730	CCDS10739.1	16q12.1	2008-02-05			ENSG00000155393	ENSG00000155393			26087	protein-coding gene	gene with protein product		614951				12477932	Standard	XM_005256013		Approved	FLJ20718	uc002efw.3	Q7Z4Q2	OTTHUMG00000133174	ENST00000299192.7:c.1427T>C	chr16.hg19:g.50120179T>C	ENSP00000299192:p.Leu476Pro	180.0	0.0		108.0	5.0	NM_182922	A8K1N4|Q8N525|Q8WV56|Q96CC9|Q9NWN7	Missense_Mutation	SNP	ENST00000299192.7	hg19	CCDS10739.1	.	.	.	.	.	.	.	.	.	.	T	13.76	2.333597	0.41297	.	.	ENSG00000155393	ENST00000285767;ENST00000299192	T;T	0.66099	-0.19;-0.19	5.68	5.68	0.88126	Armadillo-type fold (1);	0.369118	0.30704	N	0.009045	T	0.57021	0.2025	L	0.47716	1.5	0.58432	D	0.999997	B;P	0.52842	0.01;0.956	B;B	0.41619	0.008;0.361	T	0.59590	-0.7426	10	0.39692	T	0.17	.	15.9267	0.79624	0.0:0.0:0.0:1.0	.	390;476	B7WNW7;Q7Z4Q2	.;HEAT3_HUMAN	P	390;476	ENSP00000285767:L390P;ENSP00000299192:L476P	ENSP00000285767:L390P	L	+	2	0	HEATR3	48677680	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	3.937000	0.56575	2.144000	0.66660	0.528000	0.53228	CTC	.	.		0.498	HEATR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256880.2	NM_182922	
ADCY7	113	hgsc.bcm.edu	37	16	50346835	50346835	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr16:50346835T>C	ENST00000394697.2	+	22	2979	c.2639T>C	c.(2638-2640)gTc>gCc	p.V880A	ADCY7_ENST00000254235.3_Missense_Mutation_p.V880A			P51828	ADCY7_HUMAN	adenylate cyclase 7	880	Guanylate cyclase 2. {ECO:0000255|PROSITE-ProRule:PRU00099}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to ethanol (GO:0071361)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|maternal process involved in female pregnancy (GO:0060135)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cAMP biosynthetic process (GO:0030819)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)		TGCGTCTGTGTCATGTTTGCC	0.532																																					p.V880A		Atlas-SNP	.											.	ADCY7	90	.	0			c.T2639C						.						256.0	195.0	215.0					16																	50346835		2198	4300	6498	SO:0001583	missense	113	exon21			TCTGTGTCATGTT	D25538	CCDS10741.1, CCDS73882.1	16q12.1	2013-02-04			ENSG00000121281	ENSG00000121281	4.6.1.1	"""Adenylate cyclases"""	238	protein-coding gene	gene with protein product		600385				7860067	Standard	NM_001286057		Approved	KIAA0037, AC7	uc002egd.1	P51828	OTTHUMG00000133172	ENST00000394697.2:c.2639T>C	chr16.hg19:g.50346835T>C	ENSP00000378187:p.Val880Ala	83.0	0.0		51.0	4.0	NM_001114	A0AVA6	Missense_Mutation	SNP	ENST00000394697.2	hg19	CCDS10741.1	.	.	.	.	.	.	.	.	.	.	T	31	5.079819	0.94050	.	.	ENSG00000121281	ENST00000394697;ENST00000254235	D;D	0.84442	-1.85;-1.85	5.47	5.47	0.80525	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.39985	U	0.001212	D	0.95579	0.8563	H	0.98577	4.27	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97429	1.0014	10	0.87932	D	0	.	15.5676	0.76306	0.0:0.0:0.0:1.0	.	880	P51828	ADCY7_HUMAN	A	880	ENSP00000378187:V880A;ENSP00000254235:V880A	ENSP00000254235:V880A	V	+	2	0	ADCY7	48904336	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.036000	0.88901	2.063000	0.61619	0.459000	0.35465	GTC	.	.		0.532	ADCY7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256877.3		
NOD2	64127	hgsc.bcm.edu	37	16	50745876	50745876	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr16:50745876A>G	ENST00000300589.2	+	4	2159	c.2054A>G	c.(2053-2055)gAg>gGg	p.E685G	RP11-327F22.6_ENST00000602304.1_RNA	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	685					activation of MAPK activity (GO:0000187)|activation of MAPK activity involved in innate immune response (GO:0035419)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to peptidoglycan (GO:0071224)|cytokine production involved in immune response (GO:0002367)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|detection of muramyl dipeptide (GO:0032498)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|innate immune response (GO:0045087)|innate immune response in mucosa (GO:0002227)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|macrophage inflammatory protein-1 alpha production (GO:0071608)|maintenance of gastrointestinal epithelium (GO:0030277)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-18 production (GO:0032701)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell mediated immunity (GO:0002710)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of tumor necrosis factor production (GO:0032720)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of B cell activation (GO:0050871)|positive regulation of biosynthetic process of antibacterial peptides active against Gram-positive bacteria (GO:0006965)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell cytokine production (GO:0002732)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gamma-delta T cell activation (GO:0046645)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of prostaglandin-E synthase activity (GO:2000363)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type 2 immune response (GO:0002830)|protein oligomerization (GO:0051259)|regulation of inflammatory response (GO:0050727)|regulation of neutrophil chemotaxis (GO:0090022)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to muramyl dipeptide (GO:0032495)|response to nutrient (GO:0007584)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|enzyme binding (GO:0019899)|muramyl dipeptide binding (GO:0032500)|peptidoglycan binding (GO:0042834)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				TTGTCCCGGGAGCACTGGGGC	0.667																																					p.E685G		Atlas-SNP	.											.	NOD2	118	.	0			c.A2054G						.						32.0	35.0	34.0					16																	50745876		2198	4299	6497	SO:0001583	missense	64127	exon4			CCCGGGAGCACTG	AF178930	CCDS10746.1	16q12	2014-09-17	2006-12-08	2006-12-08	ENSG00000167207	ENSG00000167207		"""Nucleotide-binding domain and leucine rich repeat containing"""	5331	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2"", ""NOD-like receptor C2"", ""NLR family, CARD domain containing 2"""	605956	"""caspase recruitment domain family, member 15"""	IBD1, CARD15		7809109, 8587604	Standard	XM_005256084		Approved	BLAU, CD, PSORAS1, CLR16.3, NLRC2	uc002egm.1	Q9HC29	OTTHUMG00000133171	ENST00000300589.2:c.2054A>G	chr16.hg19:g.50745876A>G	ENSP00000300589:p.Glu685Gly	113.0	0.0		90.0	4.0	NM_022162	E2JEQ6|Q96RH5|Q96RH6|Q96RH8	Missense_Mutation	SNP	ENST00000300589.2	hg19	CCDS10746.1	.	.	.	.	.	.	.	.	.	.	A	8.557	0.876958	0.17395	.	.	ENSG00000167207	ENST00000526417;ENST00000300589	T	0.70045	-0.45	5.74	4.58	0.56647	.	0.512739	0.19747	N	0.106998	T	0.59998	0.2235	L	0.55834	1.745	0.24788	N	0.992775	P;P;P	0.44429	0.732;0.835;0.835	B;B;B	0.40825	0.204;0.302;0.341	T	0.57323	-0.7831	10	0.40728	T	0.16	.	9.727	0.40337	0.7062:0.2938:0.0:0.0	.	469;658;685	D6CHF9;Q9HC29-2;Q9HC29	.;.;NOD2_HUMAN	G	658;685	ENSP00000300589:E685G	ENSP00000300589:E685G	E	+	2	0	NOD2	49303377	1.000000	0.71417	0.995000	0.50966	0.408000	0.30992	3.053000	0.49901	2.189000	0.69895	0.459000	0.35465	GAG	.	.		0.667	NOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256876.2	NM_022162	
SLC12A3	6559	hgsc.bcm.edu	37	16	56906359	56906359	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr16:56906359T>C	ENST00000563236.1	+	7	974	c.949T>C	c.(949-951)Ttc>Ctc	p.F317L	SLC12A3_ENST00000566786.1_Missense_Mutation_p.F316L|SLC12A3_ENST00000438926.2_Missense_Mutation_p.F317L|SLC12A3_ENST00000262502.5_Missense_Mutation_p.F316L			P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	317					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:chloride symporter activity (GO:0015378)|transporter activity (GO:0005215)	p.F317I(1)		breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	CTCCAAAGGCTTCTTCAGCTA	0.567																																					p.F317L		Atlas-SNP	.											SLC12A3,NS,carcinoma,0,1	SLC12A3	99	.	1	Substitution - Missense(1)	lung(1)	c.T949C						.						81.0	73.0	76.0					16																	56906359		2198	4300	6498	SO:0001583	missense	6559	exon7			AAAGGCTTCTTCA		CCDS10770.1, CCDS45491.1, CCDS58464.1	16q13	2013-07-18	2013-07-18		ENSG00000070915	ENSG00000070915		"""Solute carriers"""	10912	protein-coding gene	gene with protein product		600968				8812482	Standard	NM_000339		Approved	NCCT	uc002ekd.4	P55017	OTTHUMG00000133284	ENST00000563236.1:c.949T>C	chr16.hg19:g.56906359T>C	ENSP00000456149:p.Phe317Leu	68.0	0.0		51.0	3.0	NM_001126108	A8MSJ2|C9JNN9	Missense_Mutation	SNP	ENST00000563236.1	hg19	CCDS58464.1	.	.	.	.	.	.	.	.	.	.	T	28.0	4.882274	0.91740	.	.	ENSG00000070915	ENST00000438926;ENST00000262502	D	0.98313	-4.86	5.72	5.72	0.89469	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.98102	0.9374	M	0.87180	2.865	0.80722	D	1	B;B;B	0.26318	0.146;0.028;0.022	B;B;B	0.33339	0.162;0.084;0.05	D	0.97750	1.0214	10	0.87932	D	0	.	15.9826	0.80125	0.0:0.0:0.0:1.0	.	316;317;317	P55017-3;P55017;P55017-2	.;S12A3_HUMAN;.	L	316;317	ENSP00000262502:F317L	ENSP00000262502:F317L	F	+	1	0	SLC12A3	55463860	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.152000	0.71812	2.182000	0.69389	0.459000	0.35465	TTC	.	.		0.567	SLC12A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432337.1		
CPNE2	221184	hgsc.bcm.edu	37	16	57153527	57153527	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr16:57153527T>C	ENST00000535318.2	+	8	1007	c.646T>C	c.(646-648)Tcc>Ccc	p.S216P	CPNE2_ENST00000290776.8_Missense_Mutation_p.S216P|CPNE2_ENST00000565874.1_Missense_Mutation_p.S216P|CPNE2_ENST00000537605.1_Missense_Mutation_p.S114P			Q96FN4	CPNE2_HUMAN	copine II	216	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.					extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(5)	21		all_neural(199;0.224)				GCCCTTGGTGTCCCTGTGTGA	0.622																																					p.S216P		Atlas-SNP	.											.	CPNE2	48	.	0			c.T646C						.						80.0	67.0	72.0					16																	57153527		2198	4300	6498	SO:0001583	missense	221184	exon7			TTGGTGTCCCTGT		CCDS10774.1	16q13	2008-02-05			ENSG00000140848	ENSG00000140848			2315	protein-coding gene	gene with protein product		604206				9430674	Standard	NM_152727		Approved	CPN2	uc002eks.2	Q96FN4	OTTHUMG00000133471	ENST00000535318.2:c.646T>C	chr16.hg19:g.57153527T>C	ENSP00000439018:p.Ser216Pro	213.0	0.0		123.0	5.0	NM_152727	Q68D19|Q719H8|Q86XP9	Missense_Mutation	SNP	ENST00000535318.2	hg19	CCDS10774.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.035567	0.75617	.	.	ENSG00000140848	ENST00000290776;ENST00000537605;ENST00000535318	T;T;T	0.39592	1.07;1.07;1.07	5.1	5.1	0.69264	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.52837	0.1759	L	0.41710	1.295	0.49798	D	0.999828	D;D	0.67145	0.996;0.984	P;P	0.62089	0.898;0.884	T	0.55642	-0.8109	10	0.62326	D	0.03	-19.1259	14.8933	0.70625	0.0:0.0:0.0:1.0	.	216;216	A8K8A4;Q96FN4	.;CPNE2_HUMAN	P	216;114;216	ENSP00000290776:S216P;ENSP00000445468:S114P;ENSP00000439018:S216P	ENSP00000290776:S216P	S	+	1	0	CPNE2	55711028	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	4.993000	0.63895	1.920000	0.55613	0.459000	0.35465	TCC	.	.		0.622	CPNE2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432986.2	NM_152727	
CNGB1	1258	hgsc.bcm.edu	37	16	57954321	57954321	+	Missense_Mutation	SNP	C	C	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr16:57954321C>A	ENST00000251102.8	-	19	1831	c.1771G>T	c.(1771-1773)Gtc>Ttc	p.V591F	CNGB1_ENST00000564448.1_Missense_Mutation_p.V585F	NM_001297.4	NP_001288.3	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	591					cation transport (GO:0006812)|cytosolic calcium ion homeostasis (GO:0051480)|detection of light stimulus involved in visual perception (GO:0050908)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|protein heterotetramerization (GO:0051290)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina homeostasis (GO:0001895)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of smell (GO:0007608)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|intracellular cyclic nucleotide activated cation channel complex (GO:0017071)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)|transmembrane transporter complex (GO:1902495)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						TCAGAGGTGACGTCAGGGTCA	0.572																																					p.V591F	Colon(156;1293 1853 16336 28962 38659)	Atlas-SNP	.											.	CNGB1	105	.	0			c.G1771T						.						84.0	87.0	86.0					16																	57954321		1957	4147	6104	SO:0001583	missense	1258	exon19			AGGTGACGTCAGG	AF042498	CCDS42169.1, CCDS45495.1, CCDS67042.1	16q13	2013-02-14			ENSG00000070729	ENSG00000070729		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2151	protein-coding gene	gene with protein product	"""glutamic acid-rich protein"""	600724		CNCG2, CNCG3L		8766832, 7590744, 16382102	Standard	NM_001297		Approved	RCNC2, RCNCb, GARP, GAR1, CNGB1B, RP45	uc002emt.2	Q14028	OTTHUMG00000154810	ENST00000251102.8:c.1771G>T	chr16.hg19:g.57954321C>A	ENSP00000251102:p.Val591Phe	111.0	0.0		77.0	4.0	NM_001297	H3BN09|O43636|Q13059|Q14029|Q9UMG2	Missense_Mutation	SNP	ENST00000251102.8	hg19	CCDS42169.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.124121	0.77436	.	.	ENSG00000070729	ENST00000251102	T	0.76709	-1.04	5.42	5.42	0.78866	.	0.000000	0.47455	D	0.000228	D	0.85982	0.5824	M	0.73598	2.24	0.80722	D	1	D	0.64830	0.994	P	0.62813	0.907	D	0.87018	0.2127	10	0.62326	D	0.03	.	13.9072	0.63843	0.0:0.8479:0.1521:0.0	.	591	Q14028	CNGB1_HUMAN	F	591	ENSP00000251102:V591F	ENSP00000251102:V591F	V	-	1	0	CNGB1	56511822	0.883000	0.30277	0.986000	0.45419	0.974000	0.67602	1.595000	0.36708	2.557000	0.86248	0.555000	0.69702	GTC	.	.		0.572	CNGB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337167.2	NM_001297	
CFAP20	29105	hgsc.bcm.edu	37	16	58148804	58148804	+	Silent	SNP	G	G	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr16:58148804G>T	ENST00000262498.3	-	5	820	c.486C>A	c.(484-486)atC>atA	p.I162I	CTB-134F13.1_ENST00000564672.1_RNA|C16orf80_ENST00000562443.1_5'Flank	NM_013242.2	NP_037374.1														kidney(1)|large_intestine(1)|lung(1)|prostate(1)	4						AAACCCGTCGGATGCGACAAT	0.483																																					p.I162I	Pancreas(103;1212 1612 18629 30162 52390)	Atlas-SNP	.											.	C16orf80	17	.	0			c.C486A						.						104.0	102.0	102.0					16																	58148804		2198	4300	6498	SO:0001819	synonymous_variant	29105	exon5			CCGTCGGATGCGA																												ENST00000262498.3:c.486C>A	chr16.hg19:g.58148804G>T		110.0	0.0		70.0	4.0	NM_013242		Silent	SNP	ENST00000262498.3	hg19	CCDS10793.1																																																																																			.	.		0.483	C16orf80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257388.2		
CSNK2A2	1459	hgsc.bcm.edu	37	16	58198047	58198047	+	Silent	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr16:58198047A>G	ENST00000262506.3	-	11	1164	c.981T>C	c.(979-981)ccT>ccC	p.P327P	CSNK2A2_ENST00000566813.1_5'UTR	NM_001896.2	NP_001887.1	P19784	CSK22_HUMAN	casein kinase 2, alpha prime polypeptide	327					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|mitotic cell cycle (GO:0000278)|mitotic spindle checkpoint (GO:0071174)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)	1						CCTTCACCACAGGGTCTGCAA	0.552																																					p.P327P	Melanoma(54;119 1219 18349 35700 39738)	Atlas-SNP	.											.	CSNK2A2	25	.	0			c.T981C						.						96.0	79.0	85.0					16																	58198047		2198	4300	6498	SO:0001819	synonymous_variant	1459	exon11			CACCACAGGGTCT	M55268	CCDS10794.1	16q21	2013-01-17			ENSG00000070770	ENSG00000070770			2459	protein-coding gene	gene with protein product		115442				2174700, 1766873	Standard	NM_001896		Approved	CSNK2A1	uc002enc.3	P19784	OTTHUMG00000133488	ENST00000262506.3:c.981T>C	chr16.hg19:g.58198047A>G		87.0	0.0		71.0	4.0	NM_001896		Silent	SNP	ENST00000262506.3	hg19	CCDS10794.1																																																																																			.	.		0.552	CSNK2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257386.2	NM_001896	
CNOT1	23019	hgsc.bcm.edu	37	16	58620483	58620483	+	Silent	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr16:58620483T>C	ENST00000317147.5	-	7	935	c.603A>G	c.(601-603)gaA>gaG	p.E201E	CNOT1_ENST00000569240.1_Silent_p.E201E|CNOT1_ENST00000441024.2_Silent_p.E201E	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	201					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		CGTCTATCTGTTCTTGTCCAA	0.488																																					p.E201E		Atlas-SNP	.											.	CNOT1	359	.	0			c.A603G						.						246.0	246.0	246.0					16																	58620483		2198	4300	6498	SO:0001819	synonymous_variant	23019	exon7			TATCTGTTCTTGT	AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.603A>G	chr16.hg19:g.58620483T>C		194.0	0.0		95.0	4.0	NM_206999	Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Silent	SNP	ENST00000317147.5	hg19	CCDS10799.1																																																																																			.	.		0.488	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	NM_016284	
C16orf70	80262	hgsc.bcm.edu	37	16	67183637	67183637	+	IGR	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr16:67183637T>C	ENST00000219139.3	+	0	2865				B3GNT9_ENST00000449549.3_Missense_Mutation_p.D251G	NM_025187.3	NP_079463.2	Q9BSU1	CP070_HUMAN	chromosome 16 open reading frame 70											cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)		AGCAAGCAGGTCTTGCGCCGG	0.632																																					p.D251G		Atlas-SNP	.											.	B3GNT9	25	.	0			c.A752G						.						21.0	23.0	22.0					16																	67183637		1986	4132	6118	SO:0001628	intergenic_variant	84752	exon2			AGCAGGTCTTGCG	AK022138	CCDS10828.1	16q22.1	2011-01-25	2006-04-12	2006-04-12	ENSG00000125149	ENSG00000125149			29564	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 6"""	C16orf6, LIN10		12477932	Standard	NM_025187		Approved	lin-10, FLJ12076	uc002erd.3	Q9BSU1	OTTHUMG00000137510		chr16.hg19:g.67183637T>C		147.0	0.0		86.0	4.0	NM_033309	Q9HA86	Missense_Mutation	SNP	ENST00000219139.3	hg19	CCDS10828.1	.	.	.	.	.	.	.	.	.	.	t	21.1	4.090436	0.76756	.	.	ENSG00000237172	ENST00000449549	T	0.43688	0.94	5.02	3.85	0.44370	.	.	.	.	.	T	0.54255	0.1847	M	0.61703	1.905	0.40236	D	0.9779	D	0.60575	0.988	P	0.60541	0.876	T	0.56044	-0.8044	9	0.45353	T	0.12	-16.6784	10.4738	0.44652	0.0:0.0:0.1629:0.837	.	251	Q6UX72	B3GN9_HUMAN	G	251	ENSP00000400157:D251G	ENSP00000400157:D251G	D	-	2	0	B3GNT9	65741138	1.000000	0.71417	0.805000	0.32314	0.508000	0.34012	6.234000	0.72326	1.885000	0.54596	0.454000	0.30748	GAC	.	.		0.632	C16orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268829.2	NM_025187	
E2F4	1874	hgsc.bcm.edu	37	16	67235697	67235697	+	IGR	SNP	G	G	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr16:67235697G>T	ENST00000379378.3	+	0	2096				ELMO3_ENST00000477898.1_Missense_Mutation_p.G211V|MIR328_ENST00000385213.1_RNA|ELMO3_ENST00000393997.2_Missense_Mutation_p.G377V|ELMO3_ENST00000360833.1_Missense_Mutation_p.G360V	NM_001950.3	NP_001941.2	Q16254	E2F4_HUMAN	E2F transcription factor 4, p107/p130-binding						blood circulation (GO:0008015)|cell volume homeostasis (GO:0006884)|cilium assembly (GO:0042384)|epithelial cell development (GO:0002064)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of cell size (GO:0008361)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(4)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)	11		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000697)|Epithelial(162;0.00303)|all cancers(182;0.0325)		GAGGTGGAGGGGGAGTCCTCG	0.622																																					p.G377V		Atlas-SNP	.											.	ELMO3	41	.	0			c.G1130T						.						46.0	55.0	52.0					16																	67235697		2066	4207	6273	SO:0001628	intergenic_variant	79767	exon11			TGGAGGGGGAGTC	BC021050	CCDS32464.1	16q22.1	2014-05-06			ENSG00000205250	ENSG00000205250			3118	protein-coding gene	gene with protein product		600659				7958924, 7892279	Standard	NM_001950		Approved	E2F-4	uc002erz.3	Q16254	OTTHUMG00000172975		chr16.hg19:g.67235697G>T		113.0	0.0		100.0	4.0	NM_024712	A6NGR8|B5BU56|Q12991|Q15328	Missense_Mutation	SNP	ENST00000379378.3	hg19	CCDS32464.1	.	.	.	.	.	.	.	.	.	.	G	14.21	2.468709	0.43839	.	.	ENSG00000102890	ENST00000360833;ENST00000393997	T;T	0.15372	2.43;2.43	5.55	5.55	0.83447	Engulfment/cell motility, ELMO (2);	0.084362	0.52532	D	0.000062	T	0.16685	0.0401	N	0.25647	0.755	0.80722	D	1	B;P;P	0.38440	0.371;0.631;0.631	B;B;B	0.39531	0.302;0.296;0.296	T	0.01966	-1.1238	10	0.46703	T	0.11	-27.5198	18.0933	0.89480	0.0:0.0:1.0:0.0	.	324;360;377	Q96BJ8;F8W9E7;Q96BJ8-3	ELMO3_HUMAN;.;.	V	360;377	ENSP00000354077:G360V;ENSP00000377566:G377V	ENSP00000354077:G360V	G	+	2	0	ELMO3	65793198	0.992000	0.36948	0.993000	0.49108	0.138000	0.21146	3.680000	0.54641	2.630000	0.89119	0.561000	0.74099	GGG	.	.		0.622	E2F4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421565.1	NM_001950	
KCTD19	146212	hgsc.bcm.edu	37	16	67331487	67331487	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr16:67331487T>C	ENST00000304372.5	-	7	1121	c.1066A>G	c.(1066-1068)Agg>Ggg	p.R356G	KCTD19_ENST00000562860.1_5'Flank	NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	356					protein homooligomerization (GO:0051260)					endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		GTGATGTCCCTTTTGTCTAGG	0.517																																					p.R356G		Atlas-SNP	.											.	KCTD19	82	.	0			c.A1066G						.						114.0	114.0	114.0					16																	67331487		1913	4125	6038	SO:0001583	missense	146212	exon7			TGTCCCTTTTGTC	AK097481	CCDS42179.1	16q22.1	2013-06-20	2013-06-20			ENSG00000168676			24753	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 19"""				Standard	NM_001100915		Approved	FLJ40162	uc002esu.2	Q17RG1		ENST00000304372.5:c.1066A>G	chr16.hg19:g.67331487T>C	ENSP00000305702:p.Arg356Gly	148.0	0.0		126.0	6.0	NM_001100915	B4DZ49|Q8N804	Missense_Mutation	SNP	ENST00000304372.5	hg19	CCDS42179.1	.	.	.	.	.	.	.	.	.	.	T	10.38	1.335147	0.24253	.	.	ENSG00000168676	ENST00000304372	T	0.58060	0.36	5.97	4.89	0.63831	.	0.072732	0.64402	D	0.000014	T	0.22205	0.0535	N	0.02011	-0.69	0.32528	N	0.535309	B	0.09022	0.002	B	0.08055	0.003	T	0.19484	-1.0304	10	0.22109	T	0.4	-24.3638	6.716	0.23304	0.0:0.1482:0.0:0.8518	.	356	Q17RG1	KCD19_HUMAN	G	356	ENSP00000305702:R356G	ENSP00000305702:R356G	R	-	1	2	KCTD19	65888988	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.733000	0.38156	2.288000	0.76882	0.533000	0.62120	AGG	.	.		0.517	KCTD19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422061.1	XM_085367	
NFATC3	4775	hgsc.bcm.edu	37	16	68156472	68156472	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr16:68156472A>G	ENST00000346183.3	+	2	710	c.686A>G	c.(685-687)tAt>tGt	p.Y229C	NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000575270.1_Missense_Mutation_p.Y229C|RP11-67A1.2_ENST00000548144.1_RNA|NFATC3_ENST00000329524.4_Missense_Mutation_p.Y229C|NFATC3_ENST00000349223.5_Missense_Mutation_p.Y229C	NM_173165.2	NP_775188.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	229	3 X SP repeats.				cellular respiration (GO:0045333)|cellular response to calcium ion (GO:0071277)|cellular response to lithium ion (GO:0071285)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		CATCAACAGTATGGACTTGGA	0.542																																					p.Y229C		Atlas-SNP	.											.	NFATC3	190	.	0			c.A686G						.						102.0	101.0	101.0					16																	68156472		2198	4300	6498	SO:0001583	missense	4775	exon2			AACAGTATGGACT	L41067	CCDS10860.1, CCDS10861.1, CCDS10862.1	16q22	2009-11-24			ENSG00000072736	ENSG00000072736		"""Nuclear factor of activated T-cells"""	7777	protein-coding gene	gene with protein product		602698				7749981	Standard	NM_004555		Approved	NFAT4, NFATX	uc002evo.2	Q12968	OTTHUMG00000137555	ENST00000346183.3:c.686A>G	chr16.hg19:g.68156472A>G	ENSP00000300659:p.Tyr229Cys	106.0	0.0		74.0	4.0	NM_173163	O75211|Q14516|Q99840|Q99841|Q99842	Missense_Mutation	SNP	ENST00000346183.3	hg19	CCDS10860.1	.	.	.	.	.	.	.	.	.	.	A	15.98	2.991958	0.54041	.	.	ENSG00000072736	ENST00000349223;ENST00000346183;ENST00000329524	T;T;T	0.08896	3.04;3.04;3.04	5.28	5.28	0.74379	.	0.116888	0.64402	D	0.000013	T	0.21347	0.0514	L	0.50333	1.59	0.45791	D	0.998672	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.996;0.936;0.996;0.996	T	0.00492	-1.1707	9	.	.	.	-14.2683	11.4951	0.50404	0.85:0.15:0.0:0.0	.	229;229;229;229	Q12968;Q12968-3;B5B2S0;B5B2S2	NFAC3_HUMAN;.;.;.	C	229	ENSP00000264008:Y229C;ENSP00000300659:Y229C;ENSP00000331324:Y229C	.	Y	+	2	0	NFATC3	66713973	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.700000	0.68318	2.111000	0.64477	0.460000	0.39030	TAT	.	.		0.542	NFATC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268890.2	NM_004555	
HAS3	3038	hgsc.bcm.edu	37	16	69143389	69143389	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr16:69143389A>G	ENST00000306560.1	+	2	247	c.91A>G	c.(91-93)Acg>Gcg	p.T31A	HAS3_ENST00000569188.1_Missense_Mutation_p.T31A|HAS3_ENST00000219322.3_Missense_Mutation_p.T31A	NM_005329.2	NP_005320.2	O00219	HYAS3_HUMAN	hyaluronan synthase 3	31					carbohydrate metabolic process (GO:0005975)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|positive regulation of hyaluranon cable assembly (GO:1900106)|positive regulation of transcription, DNA-templated (GO:0045893)|small molecule metabolic process (GO:0044281)	hyaluranon cable (GO:0036117)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronan synthase activity (GO:0050501)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2)	16		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.0694)		AGCCTATGTGACGGGCTACCA	0.617																																					p.T31A		Atlas-SNP	.											.	HAS3	61	.	0			c.A91G						.						112.0	82.0	93.0					16																	69143389		2198	4300	6498	SO:0001583	missense	3038	exon2			TATGTGACGGGCT	BC021853	CCDS10870.1, CCDS10871.1	16q22.1	2013-02-22			ENSG00000103044	ENSG00000103044	2.4.1.212	"""Glycosyltransferase family 2 domain containing"""	4820	protein-coding gene	gene with protein product		602428				9169154, 9083017	Standard	NM_005329		Approved		uc010cfh.3	O00219	OTTHUMG00000137562	ENST00000306560.1:c.91A>G	chr16.hg19:g.69143389A>G	ENSP00000304440:p.Thr31Ala	114.0	0.0		86.0	4.0	NM_138612	A8K5T5|Q8WTZ0|Q9NYP0	Missense_Mutation	SNP	ENST00000306560.1	hg19	CCDS10871.1	.	.	.	.	.	.	.	.	.	.	A	11.69	1.714959	0.30413	.	.	ENSG00000103044	ENST00000219322;ENST00000306560	T;T	0.44083	0.93;0.94	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.32102	0.0818	L	0.32530	0.975	0.51767	D	0.999937	B;B	0.30146	0.212;0.27	B;B	0.28139	0.079;0.086	T	0.09729	-1.0661	10	0.14656	T	0.56	2.2485	15.4219	0.75018	1.0:0.0:0.0:0.0	.	31;31	O00219;O00219-2	HAS3_HUMAN;.	A	31	ENSP00000219322:T31A;ENSP00000304440:T31A	ENSP00000219322:T31A	T	+	1	0	HAS3	67700890	0.437000	0.25593	1.000000	0.80357	0.979000	0.70002	2.102000	0.41796	2.140000	0.66376	0.454000	0.30748	ACG	.	.		0.617	HAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268898.2	NM_138612	
FUK	197258	hgsc.bcm.edu	37	16	70502753	70502753	+	Splice_Site	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr16:70502753T>C	ENST00000288078.6	+	9	897	c.665T>C	c.(664-666)gTc>gCc	p.V222A	FUK_ENST00000571514.1_5'UTR|FUK_ENST00000378912.2_Splice_Site_p.V254A	NM_145059.2	NP_659496.2	Q8N0W3	FUK_HUMAN	fucokinase	222						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|fucokinase activity (GO:0050201)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23		Ovarian(137;0.0694)				CCCTTCCAGGTCTCTGGGGTT	0.617																																					p.V222A		Atlas-SNP	.											.	FUK	72	.	0			c.T665C						.						124.0	122.0	122.0					16																	70502753		1958	4135	6093	SO:0001630	splice_region_variant	197258	exon9			TCCAGGTCTCTGG		CCDS10891.2	16q22.1	2008-02-05			ENSG00000157353	ENSG00000157353	2.7.1.52		29500	protein-coding gene	gene with protein product	"""L-fucose kinase"""	608675				12056818	Standard	XM_006721161		Approved	FLJ39408	uc002eyy.3	Q8N0W3	OTTHUMG00000074085	ENST00000288078.6:c.664-1T>C	chr16.hg19:g.70502753T>C		170.0	0.0		85.0	5.0	NM_145059	Q5PSM3|Q5XKL6|Q6ZRA0|Q96MT9	Missense_Mutation	SNP	ENST00000288078.6	hg19	CCDS10891.2	.	.	.	.	.	.	.	.	.	.	T	36	5.849913	0.97023	.	.	ENSG00000157353	ENST00000288078;ENST00000378912	T;T	0.31769	1.48;1.48	5.2	4.07	0.47477	L-fucokinase (1);	0.150517	0.43747	D	0.000532	T	0.46889	0.1416	M	0.70275	2.135	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.69142	0.962;0.952	T	0.49143	-0.8970	10	0.08381	T	0.77	-28.1242	11.4442	0.50114	0.1352:0.0:0.0:0.8648	.	254;222	Q8N0W3-2;Q8N0W3	.;FUK_HUMAN	A	222;254	ENSP00000288078:V222A;ENSP00000368192:V254A	ENSP00000288078:V222A	V	+	2	0	FUK	69060254	1.000000	0.71417	0.887000	0.34795	0.973000	0.67179	7.062000	0.76706	0.892000	0.36259	0.454000	0.30748	GTC	.	.		0.617	FUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157291.2	NM_145059	Missense_Mutation
HYDIN	54768	hgsc.bcm.edu	37	16	71163592	71163592	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr16:71163592T>C	ENST00000393567.2	-	9	1328	c.1178A>G	c.(1177-1179)cAg>cGg	p.Q393R	HYDIN_ENST00000288168.10_Missense_Mutation_p.Q410R|HYDIN_ENST00000321489.5_Missense_Mutation_p.Q393R|HYDIN_ENST00000448089.2_Missense_Mutation_p.Q393R|HYDIN_ENST00000448691.1_Missense_Mutation_p.Q393R|HYDIN_ENST00000538248.1_Missense_Mutation_p.Q420R|HYDIN_ENST00000393550.2_Missense_Mutation_p.Q393R|HYDIN_ENST00000541601.1_Missense_Mutation_p.Q410R	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	393					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GCTGTCTCCCTGCACCAGCCT	0.453																																					p.Q420R		Atlas-SNP	.											.	HYDIN	788	.	0			c.A1259G						.						66.0	65.0	65.0					16																	71163592		2198	4300	6498	SO:0001583	missense	54768	exon9			TCTCCCTGCACCA	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.1178A>G	chr16.hg19:g.71163592T>C	ENSP00000377197:p.Gln393Arg	121.0	0.0		80.0	4.0	NM_001198542	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	hg19	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	T	5.299	0.240472	0.10023	.	.	ENSG00000157423	ENST00000393567;ENST00000316490;ENST00000448089;ENST00000448691;ENST00000321489;ENST00000538248;ENST00000541601;ENST00000288168;ENST00000393550	T;T;T;T;T;T;T;T	0.14766	5.59;3.73;3.74;3.74;3.7;3.71;3.37;2.48	4.97	1.19	0.21007	.	0.000000	0.30193	U	0.010183	T	0.12603	0.0306	M	0.69823	2.125	0.23325	N	0.997903	B;B;B;B;B	0.23058	0.079;0.079;0.049;0.079;0.004	B;B;B;B;B	0.23018	0.043;0.025;0.021;0.043;0.007	T	0.29701	-1.0003	10	0.17832	T	0.49	.	5.4306	0.16450	0.1292:0.1524:0.0:0.7184	.	420;410;410;393;393	B4DRN4;F5H6V3;F8WD03;Q4G0P3-5;F8WD23	.;.;.;.;.	R	393;393;393;393;393;420;410;410;393	ENSP00000377197:Q393R;ENSP00000398544:Q393R;ENSP00000394826:Q393R;ENSP00000314736:Q393R;ENSP00000444970:Q420R;ENSP00000437341:Q410R;ENSP00000288168:Q410R;ENSP00000377181:Q393R	ENSP00000288168:Q410R	Q	-	2	0	HYDIN	69721093	0.837000	0.29446	0.836000	0.33094	0.062000	0.15995	0.809000	0.27168	0.341000	0.23771	0.409000	0.27619	CAG	.	.		0.453	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3		
MARVELD3	91862	hgsc.bcm.edu	37	16	71660407	71660407	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr16:71660407A>G	ENST00000268485.3	+	1	319	c.275A>G	c.(274-276)gAc>gGc	p.D92G	MARVELD3_ENST00000299952.4_Missense_Mutation_p.D92G|RP11-432I5.2_ENST00000562763.1_RNA|MARVELD3_ENST00000567566.1_Missense_Mutation_p.D92G|MARVELD3_ENST00000565261.1_Missense_Mutation_p.D92G|MARVELD3_ENST00000567501.1_5'Flank	NM_052858.4	NP_443090.4	Q96A59	MALD3_HUMAN	MARVEL domain containing 3	92	Arg-rich.				cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|tight junction (GO:0005923)				NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17		Ovarian(137;0.125)				CCCCGCCGGGACACACACAGG	0.701																																					p.D92G		Atlas-SNP	.											.,2	MARVELD3	63	.	0			c.A275G						.						15.0	24.0	21.0					16																	71660407		1959	3836	5795	SO:0001583	missense	91862	exon1			GCCGGGACACACA	BC013376	CCDS10904.1, CCDS32478.1, CCDS59270.1	16q22.2	2008-02-05	2004-07-12	2004-07-14	ENSG00000140832	ENSG00000140832			30525	protein-coding gene	gene with protein product		614094	"""MARVEL (membrane-associating) domain containing 3"""	MRVLDC3			Standard	NM_001017967		Approved		uc002fat.4	Q96A59	OTTHUMG00000137591	ENST00000268485.3:c.275A>G	chr16.hg19:g.71660407A>G	ENSP00000268485:p.Asp92Gly	86.0	0.0		65.0	3.0	NM_001017967	A8K820|H3BQM5|Q96MJ4	Missense_Mutation	SNP	ENST00000268485.3	hg19	CCDS10904.1	.	.	.	.	.	.	.	.	.	.	A	13.48	2.249927	0.39797	.	.	ENSG00000140832	ENST00000268485;ENST00000299952	T;T	0.52526	0.66;0.66	3.96	3.96	0.45880	.	0.670440	0.13213	N	0.404984	T	0.60881	0.2303	M	0.66939	2.045	0.80722	D	1	D;P;D	0.71674	0.965;0.939;0.998	P;P;D	0.64321	0.638;0.457;0.924	T	0.60010	-0.7346	10	0.54805	T	0.06	-45.2508	7.422	0.27077	0.778:0.222:0.0:0.0	.	92;92;115	Q96A59-2;Q96A59;Q9BSH2	.;MALD3_HUMAN;.	G	92	ENSP00000268485:D92G;ENSP00000299952:D92G	ENSP00000268485:D92G	D	+	2	0	MARVELD3	70217908	0.820000	0.29190	0.040000	0.18447	0.219000	0.24729	1.563000	0.36364	1.649000	0.50652	0.362000	0.22060	GAC	.	.		0.701	MARVELD3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268991.2	NM_052858	
ZNF821	55565	hgsc.bcm.edu	37	16	71895749	71895749	+	Missense_Mutation	SNP	G	G	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr16:71895749G>T	ENST00000565601.1	-	6	921	c.514C>A	c.(514-516)Cac>Aac	p.H172N	ZNF821_ENST00000313565.6_Missense_Mutation_p.H130N|ZNF821_ENST00000425432.1_Missense_Mutation_p.H172N|ATXN1L_ENST00000569119.1_Intron|ZNF821_ENST00000564943.1_5'Flank|ZNF821_ENST00000564134.1_Intron|ZNF821_ENST00000446827.2_Missense_Mutation_p.H130N	NM_001201553.1	NP_001188482.1	O75541	ZN821_HUMAN	zinc finger protein 821	172					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(2)	13						TCCTCCGAGTGGATTAAGAGG	0.587																																					p.H172N		Atlas-SNP	.											.	ZNF821	25	.	0			c.C514A						.						96.0	84.0	88.0					16																	71895749		2198	4300	6498	SO:0001583	missense	55565	exon6			CCGAGTGGATTAA	AF070588	CCDS32481.1, CCDS56006.1, CCDS73911.1	16q22.3	2008-05-02				ENSG00000102984		"""Zinc fingers, C2H2-type"""	28043	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_017530		Approved		uc021tlb.1	O75541		ENST00000565601.1:c.514C>A	chr16.hg19:g.71895749G>T	ENSP00000455648:p.His172Asn	137.0	0.0		67.0	4.0	NM_001201553	A6NK48|B4DKK4|D3DWS3	Missense_Mutation	SNP	ENST00000565601.1	hg19	CCDS56006.1	.	.	.	.	.	.	.	.	.	.	G	34	5.296284	0.95574	.	.	ENSG00000102984	ENST00000425432;ENST00000313565;ENST00000446827	T;T;T	0.28895	1.59;1.59;1.59	6.08	6.08	0.98989	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.72087	0.3417	H	0.97158	3.95	0.80722	D	1	D;D;D	0.62365	0.991;0.989;0.991	D;D;D	0.76575	0.988;0.969;0.988	T	0.80596	-0.1312	10	0.87932	D	0	-16.4098	20.6721	0.99693	0.0:0.0:1.0:0.0	.	172;130;172	B4DKK4;O75541-2;O75541	.;.;ZN821_HUMAN	N	172;130;130	ENSP00000398089:H172N;ENSP00000313822:H130N;ENSP00000405908:H130N	ENSP00000313822:H130N	H	-	1	0	ZNF821	70453250	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	2.894000	0.99253	0.591000	0.81541	CAC	.	.		0.587	ZNF821-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434180.1	NM_017530	
MON1B	22879	hgsc.bcm.edu	37	16	77227387	77227387	+	Missense_Mutation	SNP	C	C	A	rs374424902		TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr16:77227387C>A	ENST00000248248.3	+	3	538	c.188C>A	c.(187-189)cCg>cAg	p.P63Q	MON1B_ENST00000439557.2_Intron|MON1B_ENST00000545553.1_Intron|MON1B_ENST00000320859.6_Missense_Mutation_p.P63Q	NM_014940.2	NP_055755.1	Q7L1V2	MON1B_HUMAN	MON1 secretory trafficking family member B	63								p.P63L(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	17						CCATCACCACCGCCCCAGTCA	0.597																																					p.P63Q		Atlas-SNP	.											MON1B,NS,carcinoma,0,1	MON1B	55	.	1	Substitution - Missense(1)	breast(1)	c.C188A						.						54.0	58.0	56.0					16																	77227387		2198	4300	6498	SO:0001583	missense	22879	exon3			CACCACCGCCCCA	BC024277	CCDS10925.1, CCDS67082.1, CCDS67083.1	16q23.1	2013-08-21	2013-08-21		ENSG00000103111	ENSG00000103111			25020	protein-coding gene	gene with protein product		608954	"""MON1 homolog B (yeast)"""			10048485	Standard	NM_014940		Approved	SAND2, HSRG1, KIAA0872	uc002fez.3	Q7L1V2	OTTHUMG00000137618	ENST00000248248.3:c.188C>A	chr16.hg19:g.77227387C>A	ENSP00000248248:p.Pro63Gln	157.0	0.0		95.0	4.0	NM_014940	B4DDZ0|O94949	Missense_Mutation	SNP	ENST00000248248.3	hg19	CCDS10925.1	.	.	.	.	.	.	.	.	.	.	C	13.67	2.306668	0.40795	.	.	ENSG00000103111	ENST00000248248;ENST00000320859	.	.	.	3.42	1.17	0.20885	.	2.304150	0.02406	N	0.081149	T	0.17408	0.0418	N	0.08118	0	0.21652	N	0.999604	B	0.32573	0.376	B	0.25884	0.064	T	0.14980	-1.0453	9	0.13470	T	0.59	.	6.1628	0.20373	0.0:0.2449:0.0:0.7551	.	63	Q7L1V2	MON1B_HUMAN	Q	63	.	ENSP00000248248:P63Q	P	+	2	0	MON1B	75784888	0.000000	0.05858	0.735000	0.30896	0.648000	0.38561	0.044000	0.13992	0.208000	0.20626	-0.471000	0.05019	CCG	.	.		0.597	MON1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269036.2	NM_014940	
PKD1L2	114780	hgsc.bcm.edu	37	16	81219117	81219117	+	RNA	SNP	C	C	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr16:81219117C>T	ENST00000525539.1	-	0	1976				PKD1L2_ENST00000337114.4_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GCCTGAGTTCCCAGGGCGCAG	0.627																																					p.W659X		Atlas-SNP	.											.	PKD1L2	361	.	0			c.G1977A						.						32.0	39.0	37.0					16																	81219117		2051	4210	6261			114780	exon11			GAGTTCCCAGGGC	AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		chr16.hg19:g.81219117C>T		87.0	0.0		96.0	5.0	NM_001076780	Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Nonsense_Mutation	SNP	ENST00000525539.1	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.19|14.19	2.460889|2.460889	0.43736|0.43736	.|.	.|.	ENSG00000166473|ENSG00000166473	ENST00000526632|ENST00000337114	.|.	.|.	.|.	4.38|4.38	3.41|3.41	0.39046|0.39046	.|.	.|1.062830	.|0.07438	.|N	.|0.896808	T|.	0.45236|.	0.1332|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.49093|.	-0.8975|.	3|.	.|0.44086	.|T	.|0.13	1.1622|1.1622	6.8802|6.8802	0.24168|0.24168	0.0:0.7388:0.0:0.2612|0.0:0.7388:0.0:0.2612	.|.	.|.	.|.	.|.	R|X	187|659	.|.	.|ENSP00000337397:W659X	G|W	-|-	1|3	0|0	PKD1L2|PKD1L2	79776618|79776618	0.004000|0.004000	0.15560|0.15560	0.329000|0.329000	0.25429|0.25429	0.097000|0.097000	0.18754|0.18754	1.533000|1.533000	0.36040|0.36040	0.955000|0.955000	0.37878|0.37878	0.551000|0.551000	0.68910|0.68910	GGA|TGG	.	.		0.627	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000387972.2		
TAF1C	9013	hgsc.bcm.edu	37	16	84214784	84214784	+	Silent	SNP	C	C	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr16:84214784C>T	ENST00000567759.1	-	11	1433	c.1251G>A	c.(1249-1251)ccG>ccA	p.P417P	TAF1C_ENST00000566732.1_Silent_p.P391P|TAF1C_ENST00000341690.6_Silent_p.P324P|TAF1C_ENST00000541676.1_Silent_p.P324P|TAF1C_ENST00000378541.4_Silent_p.P417P|TAF1C_ENST00000570117.1_Silent_p.P85P	NM_005679.3	NP_005670	Q15572	TAF1C_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa	417					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						GACCACAGCCCGGCGGGCCCT	0.642																																					p.P417P		Atlas-SNP	.											.	TAF1C	60	.	0			c.G1251A						.						72.0	83.0	79.0					16																	84214784		2200	4300	6500	SO:0001819	synonymous_variant	9013	exon11			ACAGCCCGGCGGG	L39059	CCDS32496.1, CCDS45535.1, CCDS58488.1, CCDS58489.1	16q24	2008-02-05	2002-08-29			ENSG00000103168			11534	protein-coding gene	gene with protein product		604905	"""TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kD"""			7801123	Standard	NM_005679		Approved	TAFI110, TAFI95, SL1, MGC:39976	uc010vnx.2	Q15572		ENST00000567759.1:c.1251G>A	chr16.hg19:g.84214784C>T		190.0	0.0		99.0	4.0	NM_005679	B7Z5K5|B7Z5S4|B7Z908|B7Z9L7|Q59F67|Q8N6V3	Silent	SNP	ENST00000567759.1	hg19	CCDS32496.1																																																																																			.	.		0.642	TAF1C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000433045.2	NM_139353	
ZNF469	84627	hgsc.bcm.edu	37	16	88503720	88503720	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr16:88503720A>G	ENST00000437464.1	+	2	9758	c.9758A>G	c.(9757-9759)aAc>aGc	p.N3253S	ZNF469_ENST00000565624.1_Missense_Mutation_p.N3281S	NM_001127464.1	NP_001120936.1	Q96JG9	ZN469_HUMAN	zinc finger protein 469	3253					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(6)|kidney(3)|large_intestine(1)|skin(6)	20						ACCCCCAGCAACCCAGACGGG	0.766																																					p.N3253S		Atlas-SNP	.											.	ZNF469	121	.	0			c.A9758G						.						2.0	3.0	3.0					16																	88503720		473	1249	1722	SO:0001583	missense	84627	exon2			CCAGCAACCCAGA	AB058761	CCDS45544.1	16q24	2010-08-04				ENSG00000225614		"""Zinc fingers, C2H2-type"""	23216	protein-coding gene	gene with protein product		612078				11347906	Standard	NM_001127464		Approved	KIAA1858	uc002fku.2	Q96JG9		ENST00000437464.1:c.9758A>G	chr16.hg19:g.88503720A>G	ENSP00000402343:p.Asn3253Ser	119.0	0.0		115.0	5.0	NM_001127464		Missense_Mutation	SNP	ENST00000437464.1	hg19	CCDS45544.1	.	.	.	.	.	.	.	.	.	.	A	8.757	0.922750	0.18056	.	.	ENSG00000225614	ENST00000437464	T	0.05319	3.46	4.32	-3.75	0.04372	.	.	.	.	.	T	0.03434	0.0099	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.43540	-0.9385	9	0.44086	T	0.13	.	6.8669	0.24098	0.3298:0.0:0.5394:0.1308	.	3253	Q96JG9	ZN469_HUMAN	S	3253	ENSP00000402343:N3253S	ENSP00000402343:N3253S	N	+	2	0	ZNF469	87031221	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	0.457000	0.21875	-0.248000	0.09583	-0.464000	0.05259	AAC	.	.		0.766	ZNF469-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NG_012236	
MVD	4597	hgsc.bcm.edu	37	16	88724396	88724396	+	Silent	SNP	G	G	T	rs568814170	byFrequency	TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr16:88724396G>T	ENST00000301012.3	-	3	212	c.183C>A	c.(181-183)acC>acA	p.T61T	MVD_ENST00000568709.1_5'UTR	NM_002461.1	NP_002452.1	P53602	MVD1_HUMAN	mevalonate (diphospho) decarboxylase	61					cellular protein metabolic process (GO:0044267)|cholesterol biosynthetic process (GO:0006695)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|dolichyl diphosphate biosynthetic process (GO:0006489)|isopentenyl diphosphate biosynthetic process, mevalonate pathway (GO:0019287)|isoprenoid biosynthetic process (GO:0008299)|positive regulation of cell proliferation (GO:0008284)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|diphosphomevalonate decarboxylase activity (GO:0004163)|Hsp70 protein binding (GO:0030544)|protein homodimerization activity (GO:0042803)			endometrium(3)|large_intestine(1)|lung(7)|ovary(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.0478)		TCCGGTCCTCGGTGAAGTCCT	0.617																																					p.T61T		Atlas-SNP	.											.	MVD	27	.	0			c.C183A						.						73.0	79.0	77.0					16																	88724396		2198	4300	6498	SO:0001819	synonymous_variant	4597	exon3			GTCCTCGGTGAAG	U49260	CCDS10968.1	16q24.3	2010-04-29			ENSG00000167508	ENSG00000167508	4.1.1.33		7529	protein-coding gene	gene with protein product	"""mevalonate pyrophosphate decarboxylase"""	603236				8626466	Standard	NM_002461		Approved	MPD	uc002flg.1	P53602	OTTHUMG00000137865	ENST00000301012.3:c.183C>A	chr16.hg19:g.88724396G>T		169.0	0.0		115.0	5.0	NM_002461	Q53Y65	Silent	SNP	ENST00000301012.3	hg19	CCDS10968.1																																																																																			.	.		0.617	MVD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269547.2	NM_002461	
CBFA2T3	863	hgsc.bcm.edu	37	16	88958364	88958364	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr16:88958364T>C	ENST00000268679.4	-	5	1033	c.637A>G	c.(637-639)Atc>Gtc	p.I213V	CBFA2T3_ENST00000448839.1_Missense_Mutation_p.I137V|CBFA2T3_ENST00000327483.5_Missense_Mutation_p.I127V|CBFA2T3_ENST00000360302.2_Missense_Mutation_p.I127V|CBFA2T3_ENST00000436887.2_Missense_Mutation_p.I188V	NM_005187.5	NP_005178.4	O75081	MTG16_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 3	213	Mediates interaction with PDE7A (in isoform 2).|Mediates localization to the nucleus. {ECO:0000250}.|TAFH. {ECO:0000255|PROSITE- ProRule:PRU00440}.				cell proliferation (GO:0008283)|granulocyte differentiation (GO:0030851)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0275)		AACTCCTCGATCGTCAATGTC	0.587			T	RUNX1	AML																																p.I213V		Atlas-SNP	.		Dom	yes		16	16q24	863	"""core-binding factor, runt domain, alpha subunit 2; translocated to, 3 (MTG-16)"""		L	.	CBFA2T3	47	.	0			c.A637G						.						100.0	80.0	87.0					16																	88958364		2196	4300	6496	SO:0001583	missense	863	exon5			CCTCGATCGTCAA	AF052213	CCDS10972.1, CCDS10973.1	16q24	2013-10-16			ENSG00000129993	ENSG00000129993		"""Zinc fingers, MYND-type"", ""A-kinase anchor proteins"""	1537	protein-coding gene	gene with protein product	"""myeloid translocation gene 8 and 16b"""	603870				9790752, 20150326	Standard	NM_005187		Approved	MTGR2, ZMYND4, MTG16	uc002fmm.2	O75081	OTTHUMG00000137864	ENST00000268679.4:c.637A>G	chr16.hg19:g.88958364T>C	ENSP00000268679:p.Ile213Val	77.0	0.0		63.0	4.0	NM_005187	D3DX78|O60615|O60616|O60617|O75082|O75107|O75108|Q0P5Z6|Q6P5W6	Missense_Mutation	SNP	ENST00000268679.4	hg19	CCDS10972.1	.	.	.	.	.	.	.	.	.	.	t	12.34	1.909887	0.33721	.	.	ENSG00000129993	ENST00000327483;ENST00000268679;ENST00000436887;ENST00000448839;ENST00000360302	T;T;T;T;T	0.40756	1.02;1.02;1.02;1.02;1.02	4.44	4.44	0.53790	TAFH/NHR1 (3);	0.054514	0.64402	D	0.000001	T	0.35189	0.0923	L	0.36672	1.1	0.80722	D	1	B;B;B;B	0.09022	0.001;0.002;0.0;0.001	B;B;B;B	0.21708	0.008;0.036;0.013;0.012	T	0.13791	-1.0496	10	0.36615	T	0.2	-6.0078	14.1299	0.65247	0.0:0.0:0.0:1.0	.	188;213;213;127	E7EU24;B2RBQ7;O75081;O75081-2	.;.;MTG16_HUMAN;.	V	127;213;188;137;127	ENSP00000332122:I127V;ENSP00000268679:I213V;ENSP00000395739:I188V;ENSP00000401254:I137V;ENSP00000353449:I127V	ENSP00000268679:I213V	I	-	1	0	CBFA2T3	87485865	1.000000	0.71417	0.998000	0.56505	0.383000	0.30230	7.260000	0.78391	1.980000	0.57719	0.454000	0.30748	ATC	.	.		0.587	CBFA2T3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269545.2	NM_005187	
ANKRD11	29123	hgsc.bcm.edu	37	16	89346917	89346917	+	Silent	SNP	C	C	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr16:89346917C>T	ENST00000301030.4	-	9	6493	c.6033G>A	c.(6031-6033)tcG>tcA	p.S2011S	ANKRD11_ENST00000378330.2_Silent_p.S2011S	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	2011	Pro-rich.				bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		ACGGCGCCTCCGAGGCGCTGA	0.711																																					p.S2011S		Atlas-SNP	.											.	ANKRD11	195	.	0			c.G6033A						.						6.0	7.0	7.0					16																	89346917		1733	3603	5336	SO:0001819	synonymous_variant	29123	exon9			CGCCTCCGAGGCG	AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"""Ankyrin repeat domain containing"""	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.6033G>A	chr16.hg19:g.89346917C>T		58.0	0.0		44.0	4.0	NM_001256183	Q6NTG1|Q6QMF8	Silent	SNP	ENST00000301030.4	hg19	CCDS32513.1																																																																																			.	.		0.711	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275	
CPNE7	27132	hgsc.bcm.edu	37	16	89651220	89651220	+	Silent	SNP	C	C	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr16:89651220C>T	ENST00000268720.5	+	7	901	c.771C>T	c.(769-771)taC>taT	p.Y257Y	CPNE7_ENST00000319518.8_Silent_p.Y182Y	NM_014427.4	NP_055242.1	Q9UBL6	CPNE7_HUMAN	copine VII	257	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				lipid metabolic process (GO:0006629)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)	transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)	17		all_hematologic(23;0.0748)		all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147)		TGGAGCTCTACAGGGTCAACG	0.647																																					p.Y257Y		Atlas-SNP	.											.	CPNE7	56	.	0			c.C771T						.						78.0	66.0	70.0					16																	89651220		2198	4300	6498	SO:0001819	synonymous_variant	27132	exon7			GCTCTACAGGGTC	AJ133798	CCDS10980.1, CCDS10981.1	16q24.3	2008-07-03			ENSG00000178773	ENSG00000178773			2320	protein-coding gene	gene with protein product		605689					Standard	NM_014427		Approved		uc002fnq.3	Q9UBL6	OTTHUMG00000138051	ENST00000268720.5:c.771C>T	chr16.hg19:g.89651220C>T		69.0	0.0		54.0	5.0	NM_014427		Silent	SNP	ENST00000268720.5	hg19	CCDS10980.1																																																																																			.	.		0.647	CPNE7-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000269929.2		
CLUH	23277	hgsc.bcm.edu	37	17	2605026	2605026	+	Missense_Mutation	SNP	C	C	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr17:2605026C>T	ENST00000570628.2	-	5	616	c.511G>A	c.(511-513)Ggg>Agg	p.G171R	CLUH_ENST00000435359.1_Missense_Mutation_p.G171R|CLUH_ENST00000538975.1_Missense_Mutation_p.G171R			O75153	CLU_HUMAN	clustered mitochondria (cluA/CLU1) homolog	171					intracellular distribution of mitochondria (GO:0048312)	cytoplasm (GO:0005737)											TTCCGCTTCCCGCTGTCTGAG	0.682																																					p.G171R		Atlas-SNP	.											.	.	.	.	0			c.G511A						.						38.0	46.0	43.0					17																	2605026		2003	4153	6156	SO:0001583	missense	23277	exon5			GCTTCCCGCTGTC	AB014564	CCDS45572.1	17p13.3	2012-12-18	2012-11-30	2012-11-30	ENSG00000132361	ENSG00000132361			29094	protein-coding gene	gene with protein product			"""KIAA0664"""	KIAA0664			Standard	XM_005256567		Approved	CLU1	uc002fuy.1	O75153	OTTHUMG00000177575	ENST00000570628.2:c.511G>A	chr17.hg19:g.2605026C>T	ENSP00000458986:p.Gly171Arg	95.0	0.0		79.0	4.0	NM_015229	Q6AHY2|Q6P3X7|Q6ZUG8|Q8N4U7|Q9BTA3|Q9H979	Missense_Mutation	SNP	ENST00000570628.2	hg19	CCDS45572.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.001285	0.74818	.	.	ENSG00000132361	ENST00000435359;ENST00000322335;ENST00000538975	T;T	0.80653	-1.4;-1.4	5.42	5.42	0.78866	GSKIP/TIF31 domain (1);	0.046466	0.85682	D	0.000000	T	0.78515	0.4295	L	0.38531	1.155	0.80722	D	1	D;D	0.67145	0.972;0.996	B;P	0.47102	0.39;0.537	T	0.79878	-0.1617	10	0.48119	T	0.1	.	18.1971	0.89826	0.0:1.0:0.0:0.0	.	171;171	O75153;C9J6D7	K0664_HUMAN;.	R	171	ENSP00000388872:G171R;ENSP00000439628:G171R	ENSP00000320468:G171R	G	-	1	0	KIAA0664	2551776	1.000000	0.71417	0.995000	0.50966	0.675000	0.39556	7.473000	0.81007	2.557000	0.86248	0.591000	0.81541	GGG	.	.		0.682	CLUH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437807.2	NM_015229	
PELP1	27043	hgsc.bcm.edu	37	17	4607242	4607242	+	Silent	SNP	C	C	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr17:4607242C>T	ENST00000574876.1	-	1	182	c.165G>A	c.(163-165)ccG>ccA	p.P55P	PELP1_ENST00000301396.4_Silent_p.P55P|PELP1_ENST00000436683.2_5'UTR|RP11-314A20.2_ENST00000497885.1_RNA|PELP1_ENST00000269230.7_Silent_p.P55P|PELP1_ENST00000570823.1_5'UTR|PELP1_ENST00000572293.1_Silent_p.P105P			Q8IZL8	PELP1_HUMAN	proline, glutamate and leucine rich protein 1	55					cellular response to estrogen stimulus (GO:0071391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						GGGGATGCACCGGAGCAACGG	0.687																																					p.P55P		Atlas-SNP	.											.	PELP1	102	.	0			c.G165A						.						23.0	30.0	28.0					17																	4607242		1987	4127	6114	SO:0001819	synonymous_variant	27043	exon1			ATGCACCGGAGCA		CCDS58503.1, CCDS58503.2, CCDS62038.1	17p13.2	2012-05-02	2008-02-21			ENSG00000141456			30134	protein-coding gene	gene with protein product		609455	"""proline, glutamic acid and leucine rich protein 1"""			11481323, 12682072	Standard	NM_014389		Approved	MNAR	uc002fyi.4	Q8IZL8		ENST00000574876.1:c.165G>A	chr17.hg19:g.4607242C>T		138.0	0.0		80.0	4.0	NM_014389	O15450|Q5EGN3|Q6NTE6|Q96FT1|Q9BU60	Silent	SNP	ENST00000574876.1	hg19	CCDS58503.1																																																																																			.	.		0.687	PELP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000439140.2	NM_014389	
NLRP1	22861	hgsc.bcm.edu	37	17	5425083	5425083	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr17:5425083A>G	ENST00000572272.1	-	13	3543	c.3544T>C	c.(3544-3546)Ttc>Ctc	p.F1182L	NLRP1_ENST00000354411.3_Missense_Mutation_p.F1152L|NLRP1_ENST00000577119.1_Missense_Mutation_p.F1152L|NLRP1_ENST00000345221.3_Missense_Mutation_p.F1182L|NLRP1_ENST00000262467.5_Missense_Mutation_p.F1186L|NLRP1_ENST00000269280.4_Missense_Mutation_p.F1182L			Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	1182					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of inflammatory response (GO:0050727)|response to muramyl dipeptide (GO:0032495)	cytosol (GO:0005829)|intracellular (GO:0005622)|NLRP1 inflammasome complex (GO:0072558)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				GCCATTTGGAACAGGGATGTG	0.473																																					p.F1186L		Atlas-SNP	.											.	NLRP1	358	.	0			c.T3556C						.						51.0	55.0	54.0					17																	5425083		2203	4300	6503	SO:0001583	missense	22861	exon13			TTTGGAACAGGGA	AB023143	CCDS32537.1, CCDS42244.1, CCDS42245.1, CCDS42246.1, CCDS58508.1	17p13	2014-01-29	2006-12-08	2006-12-08	ENSG00000091592	ENSG00000091592		"""Nucleotide-binding domain and leucine rich repeat containing"""	14374	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1"""	606636	"""NACHT, leucine rich repeat and PYD (pyrin domain) containing 1"", ""systemic lupus erythematosus, vitiligo-related 1"""	NALP1, SLEV1		8781126, 12563287, 17377159	Standard	NM_033006		Approved	KIAA0926, DKFZp586O1822, CARD7, NAC, CLR17.1, DEFCAP, VAMAS1	uc002gci.3	Q9C000		ENST00000572272.1:c.3544T>C	chr17.hg19:g.5425083A>G	ENSP00000460475:p.Phe1182Leu	61.0	0.0		51.0	4.0	NM_001033053	E9PE50|I6L9D9|Q9BZZ8|Q9BZZ9|Q9H5Z7|Q9H5Z8|Q9HAV8|Q9UFT4|Q9Y2E0	Missense_Mutation	SNP	ENST00000572272.1	hg19	CCDS42246.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.066079	0.76187	.	.	ENSG00000091592	ENST00000544378;ENST00000262467;ENST00000269280;ENST00000354411;ENST00000345221;ENST00000537069	T;T;T;T;T	0.30714	1.52;1.52;1.52;1.52;1.52	4.3	4.3	0.51218	.	0.000000	0.40469	N	0.001090	T	0.56558	0.1993	M	0.83953	2.67	0.31012	N	0.719143	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.983	T	0.64711	-0.6343	10	0.87932	D	0	.	11.7714	0.51960	1.0:0.0:0.0:0.0	.	1152;1152;1182;1182;1186	Q9C000-3;Q9C000-4;Q9C000;Q9C000-2;E9PE50	.;.;NALP1_HUMAN;.;.	L	1186;1186;1182;1152;1182;448	ENSP00000442029:F1186L;ENSP00000262467:F1186L;ENSP00000269280:F1182L;ENSP00000346390:F1152L;ENSP00000324366:F1182L	ENSP00000262467:F1186L	F	-	1	0	NLRP1	5365807	0.962000	0.33011	0.203000	0.23512	0.946000	0.59487	2.073000	0.41519	1.945000	0.56424	0.529000	0.55759	TTC	.	.		0.473	NLRP1-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439517.1	NM_033004	
FBXO39	162517	hgsc.bcm.edu	37	17	6683348	6683348	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr17:6683348A>G	ENST00000321535.4	+	2	291	c.161A>G	c.(160-162)gAg>gGg	p.E54G		NM_153230.2	NP_694962.1	Q8N4B4	FBX39_HUMAN	F-box protein 39	54	F-box.									NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	26						TATTCTGCTGAGCTCTGGCGG	0.507																																					p.E54G		Atlas-SNP	.											.	FBXO39	50	.	0			c.A161G						.						109.0	103.0	105.0					17																	6683348		2203	4300	6503	SO:0001583	missense	162517	exon2			CTGCTGAGCTCTG	BC034782	CCDS11082.1	17p13.2	2014-01-21			ENSG00000177294	ENSG00000177294		"""F-boxes /  ""other"""""	28565	protein-coding gene	gene with protein product		609106				12477932	Standard	NM_153230		Approved	MGC35179, Fbx39, CT144	uc010vtg.2	Q8N4B4	OTTHUMG00000102062	ENST00000321535.4:c.161A>G	chr17.hg19:g.6683348A>G	ENSP00000321386:p.Glu54Gly	225.0	0.0		137.0	6.0	NM_153230		Missense_Mutation	SNP	ENST00000321535.4	hg19	CCDS11082.1	.	.	.	.	.	.	.	.	.	.	A	11.02	1.516258	0.27123	.	.	ENSG00000177294	ENST00000321535	T	0.45668	0.89	5.56	5.56	0.83823	F-box domain, cyclin-like (1);	0.358632	0.27210	N	0.020412	T	0.32071	0.0817	L	0.29908	0.895	0.21652	N	0.999606	B	0.15141	0.012	B	0.21917	0.037	T	0.15435	-1.0437	10	0.27082	T	0.32	-32.2557	12.406	0.55441	1.0:0.0:0.0:0.0	.	54	Q8N4B4	FBX39_HUMAN	G	54	ENSP00000321386:E54G	ENSP00000321386:E54G	E	+	2	0	FBXO39	6624072	0.995000	0.38212	1.000000	0.80357	0.862000	0.49288	2.220000	0.42908	2.257000	0.74773	0.459000	0.35465	GAG	.	.		0.507	FBXO39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219866.2	NM_153230	
ACAP1	9744	hgsc.bcm.edu	37	17	7249578	7249578	+	Silent	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr17:7249578T>C	ENST00000158762.3	+	11	1076	c.870T>C	c.(868-870)atT>atC	p.I290I		NM_014716.3	NP_055531.1	Q15027	ACAP1_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 1	290	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.|Required for formation of endosomal tubules when overexpressed with PIP5K1C.				protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)	endosome (GO:0005768)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						GGTTCACCATTCAGAGCAACC	0.527											OREG0024135	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.I290I		Atlas-SNP	.											.	ACAP1	66	.	0			c.T870C						.						148.0	143.0	145.0					17																	7249578		2203	4300	6503	SO:0001819	synonymous_variant	9744	exon11			CACCATTCAGAGC	D30758	CCDS11101.1	17p13.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000072818	ENSG00000072818		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16467	protein-coding gene	gene with protein product		607763	"""centaurin, beta 1"""	CENTB1		11050434, 11062263	Standard	NM_014716		Approved	KIAA0050	uc002ggd.2	Q15027	OTTHUMG00000102199	ENST00000158762.3:c.870T>C	chr17.hg19:g.7249578T>C		189.0	0.0	640	109.0	5.0	NM_014716	Q53XN9	Silent	SNP	ENST00000158762.3	hg19	CCDS11101.1																																																																																			.	.		0.527	ACAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220049.4	NM_014716	
CHRNB1	1140	hgsc.bcm.edu	37	17	7359909	7359909	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr17:7359909A>G	ENST00000306071.2	+	11	1440	c.1373A>G	c.(1372-1374)gAg>gGg	p.E458G	CHRNB1_ENST00000536404.2_Missense_Mutation_p.E386G|CHRNB1_ENST00000576360.1_Missense_Mutation_p.E337G|CHRNB1_ENST00000575379.1_5'UTR	NM_000747.2	NP_000738.2	P11230	ACHB_HUMAN	cholinergic receptor, nicotinic, beta 1 (muscle)	458					behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|neurological system process (GO:0050877)|neuromuscular synaptic transmission (GO:0007274)|postsynaptic membrane organization (GO:0001941)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	acetylcholine binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)|channel activity (GO:0015267)|ligand-gated ion channel activity (GO:0015276)			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(3)	23		Prostate(122;0.157)			Galantamine(DB00674)	CAGCTGAAGGAGGACTGGCAG	0.602																																					p.E458G		Atlas-SNP	.											.	CHRNB1	46	.	0			c.A1373G						.						178.0	143.0	155.0					17																	7359909		2203	4300	6503	SO:0001583	missense	1140	exon11			TGAAGGAGGACTG	X14830	CCDS11106.1	17p13.1	2012-02-11	2006-02-01		ENSG00000170175	ENSG00000170175		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1961	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 1 (muscle)"""	100710	"""cholinergic receptor, nicotinic, beta polypeptide 1 (muscle)"""	CHRNB			Standard	NM_000747		Approved		uc002ghb.3	P11230	OTTHUMG00000108139	ENST00000306071.2:c.1373A>G	chr17.hg19:g.7359909A>G	ENSP00000304290:p.Glu458Gly	121.0	0.0		78.0	4.0	NM_000747	B7Z5H1|Q8IZ46|Q96FB8	Missense_Mutation	SNP	ENST00000306071.2	hg19	CCDS11106.1	.	.	.	.	.	.	.	.	.	.	a	16.00	2.997207	0.54147	.	.	ENSG00000170175	ENST00000306071;ENST00000536404	T;T	0.25912	1.77;1.77	5.51	5.51	0.81932	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.222920	0.44902	D	0.000401	T	0.34048	0.0884	M	0.75150	2.29	0.80722	D	1	B	0.34015	0.435	B	0.36608	0.229	T	0.20075	-1.0286	10	0.62326	D	0.03	.	13.584	0.61919	1.0:0.0:0.0:0.0	.	458	P11230	ACHB_HUMAN	G	458;386	ENSP00000304290:E458G;ENSP00000439209:E386G	ENSP00000304290:E458G	E	+	2	0	CHRNB1	7300633	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.074000	0.64401	2.093000	0.63338	0.449000	0.29647	GAG	.	.		0.602	CHRNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226942.3		
TP53	7157	hgsc.bcm.edu	37	17	7577602	7577602	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr17:7577602A>G	ENST00000269305.4	-	7	868	c.679T>C	c.(679-681)Tct>Cct	p.S227P	TP53_ENST00000413465.2_Missense_Mutation_p.S227P|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000445888.2_Missense_Mutation_p.S227P|TP53_ENST00000455263.2_Missense_Mutation_p.S227P|TP53_ENST00000359597.4_Missense_Mutation_p.S227P|TP53_ENST00000420246.2_Missense_Mutation_p.S227P	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	227	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		S -> C (in sporadic cancers; somatic mutation).|S -> F (in sporadic cancers; somatic mutation).|S -> P (in a sporadic cancer; somatic mutation).|S -> T (in LFS; germline mutation and in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.?(5)|p.S227fs*20(3)|p.S227fs*1(2)|p.V225_S227delVGS(2)|p.G226_D228delGSD(1)|p.S134fs*20(1)|p.V225fs*23(1)|p.S227fs*14(1)|p.S227_I232delSDCTTI(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GTACAGTCAGAGCCAACCTAG	0.522		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											p.S227P	Pancreas(47;798 1329 9957 10801)	Atlas-SNP	.	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	TP53_ENST00000545858,colon,carcinoma,0,1	TP53	33396	.	25	Whole gene deletion(8)|Deletion - Frameshift(7)|Unknown(5)|Deletion - In frame(4)|Insertion - Frameshift(1)	biliary_tract(5)|liver(5)|bone(4)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(3)|breast(2)|stomach(1)|oesophagus(1)|lung(1)	c.T679C	GRCh37	CM951228	TP53	M		.						97.0	81.0	86.0					17																	7577602		2203	4300	6503	SO:0001583	missense	7157	exon7	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AGTCAGAGCCAAC	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.679T>C	chr17.hg19:g.7577602A>G	ENSP00000269305:p.Ser227Pro	208.0	2.0		149.0	6.0	NM_000546	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	hg19	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	A	16.39	3.110765	0.56398	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99816	-6.91;-6.91;-6.91;-6.91;-6.91;-6.91;-6.91;-6.91	4.48	0.868	0.19090	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.331184	0.32459	N	0.006067	D	0.99354	0.9773	M	0.62723	1.935	0.42369	D	0.992447	B;D;B;B;B;B	0.59357	0.02;0.985;0.005;0.056;0.012;0.02	B;P;B;B;B;B	0.52957	0.047;0.714;0.004;0.105;0.039;0.017	D	0.98216	1.0475	10	0.87932	D	0	-0.1971	4.9977	0.14247	0.3814:0.3136:0.0:0.305	.	227;227;134;227;227;227	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	P	227;227;227;227;227;227;216;134;95;134	ENSP00000410739:S227P;ENSP00000352610:S227P;ENSP00000269305:S227P;ENSP00000398846:S227P;ENSP00000391127:S227P;ENSP00000391478:S227P;ENSP00000425104:S95P;ENSP00000423862:S134P	ENSP00000269305:S227P	S	-	1	0	TP53	7518327	0.014000	0.17966	0.130000	0.21974	0.841000	0.47740	0.255000	0.18333	0.012000	0.14892	0.379000	0.24179	TCT	.	.		0.522	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
WDR16	146845	hgsc.bcm.edu	37	17	9490134	9490134	+	Silent	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr17:9490134A>G	ENST00000352665.5	+	3	459	c.390A>G	c.(388-390)ggA>ggG	p.G130G	WDR16_ENST00000396219.3_Silent_p.G62G|WDR16_ENST00000576499.1_3'UTR|WDR16_ENST00000299764.5_Silent_p.G140G	NM_145054.4	NP_659491.4			WD repeat domain 16											NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						TATCACTAGGAGGCCCAGATG	0.378																																					p.G130G		Atlas-SNP	.											.	WDR16	67	.	0			c.A390G						.						77.0	74.0	75.0					17																	9490134		2203	4300	6503	SO:0001819	synonymous_variant	146845	exon3			ACTAGGAGGCCCA	AB065281	CCDS11149.2, CCDS42262.1	17p13.1	2014-08-01			ENSG00000166596	ENSG00000166596		"""WD repeat domain containing"""	16053	protein-coding gene	gene with protein product	"""WD40-repeat protein upregulated in HCC"""	609804				15967112	Standard	NM_001080556		Approved	WDRPUH, FLJ37528	uc002gly.3	Q8N1V2	OTTHUMG00000150149	ENST00000352665.5:c.390A>G	chr17.hg19:g.9490134A>G		175.0	0.0		80.0	4.0	NM_145054		Silent	SNP	ENST00000352665.5	hg19	CCDS11149.2																																																																																			.	.		0.378	WDR16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316569.2	NM_145054	
CDRT4	284040	hgsc.bcm.edu	37	17	15341250	15341250	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr17:15341250G>T	ENST00000312177.6	-	4	576	c.296C>A	c.(295-297)tCa>tAa	p.S99*	TVP23C-CDRT4_ENST00000522212.2_3'UTR|TVP23C_ENST00000519970.1_3'UTR|CDRT4_ENST00000519354.1_5'UTR	NM_001204477.1	NP_001191406.1	Q8N9R6	CDRT4_HUMAN	CMT1A duplicated region transcript 4	99										endometrium(3)|skin(1)	4				UCEC - Uterine corpus endometrioid carcinoma (92;0.0874)		GCCCCACATTGATAACGTGGA	0.488																																					p.S100X		Atlas-SNP	.											.	CDRT4	11	.	0			c.C299A						.						179.0	157.0	164.0					17																	15341250		2203	4300	6503	SO:0001587	stop_gained	284040	exon4			CACATTGATAACG	BC029542	CCDS73995.1	17p12	2011-09-28			ENSG00000239704	ENSG00000239704			14383	protein-coding gene	gene with protein product						11381029	Standard	NM_001204477		Approved	FLJ36674	uc002gop.2	Q8N9R6	OTTHUMG00000059070	ENST00000312177.6:c.296C>A	chr17.hg19:g.15341250G>T	ENSP00000310031:p.Ser99*	172.0	0.0		121.0	5.0	NM_001204477	A8MSL9|Q8IZ19	Nonsense_Mutation	SNP	ENST00000312177.6	hg19		.	.	.	.	.	.	.	.	.	.	G	20.2	3.957308	0.73902	.	.	ENSG00000239704	ENST00000520956;ENST00000312177	.	.	.	4.9	4.9	0.64082	.	0.486635	0.17540	N	0.170575	.	.	.	.	.	.	0.58432	D	0.999992	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	3.42	13.4329	0.61066	0.0:0.0:1.0:0.0	.	.	.	.	X	100;99	.	ENSP00000310031:S99X	S	-	2	0	CDRT4	15281975	0.166000	0.22962	0.010000	0.14722	0.008000	0.06430	4.195000	0.58400	2.545000	0.85829	0.591000	0.81541	TCA	.	.		0.488	CDRT4-001	KNOWN	non_canonical_conserved|non_canonical_other|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000130383.7	NM_173622	
MYO15A	51168	hgsc.bcm.edu	37	17	18024955	18024955	+	Silent	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr17:18024955A>G	ENST00000205890.5	+	2	3179	c.2841A>G	c.(2839-2841)gcA>gcG	p.A947A		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	947					inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CAGGAGGTGCAGGCAGCCGCC	0.692																																					p.A947A		Atlas-SNP	.											.	MYO15A	268	.	0			c.A2841G						.						7.0	9.0	9.0					17																	18024955		1771	3949	5720	SO:0001819	synonymous_variant	51168	exon2			AGGTGCAGGCAGC	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.2841A>G	chr17.hg19:g.18024955A>G		167.0	0.0		105.0	5.0	NM_016239	B4DFC7	Silent	SNP	ENST00000205890.5	hg19	CCDS42271.1																																																																																			.	.		0.692	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239	
MYO15A	51168	hgsc.bcm.edu	37	17	18055165	18055165	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr17:18055165A>G	ENST00000205890.5	+	41	8131	c.7793A>G	c.(7792-7794)gAt>gGt	p.D2598G	MYO15A_ENST00000585180.1_5'Flank|MYO15A_ENST00000418233.3_5'Flank	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	2598	Tail.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CACAGGAAGGATGGCGGGAAA	0.567																																					p.D2598G		Atlas-SNP	.											.	MYO15A	268	.	0			c.A7793G						.						40.0	45.0	44.0					17																	18055165		2034	4176	6210	SO:0001583	missense	51168	exon40			GGAAGGATGGCGG	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.7793A>G	chr17.hg19:g.18055165A>G	ENSP00000205890:p.Asp2598Gly	137.0	0.0		85.0	4.0	NM_016239	B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	hg19	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	A	11.39	1.624496	0.28889	.	.	ENSG00000091536	ENST00000205890	D	0.87887	-2.31	5.11	4.03	0.46877	.	.	.	.	.	T	0.81460	0.4827	L	0.47716	1.5	0.58432	D	0.999998	B	0.02656	0.0	B	0.01281	0.0	T	0.73717	-0.3895	9	0.27785	T	0.31	.	10.2996	0.43644	0.9194:0.0:0.0806:0.0	.	2598	Q9UKN7	MYO15_HUMAN	G	2598	ENSP00000205890:D2598G	ENSP00000205890:D2598G	D	+	2	0	MYO15A	17995890	0.998000	0.40836	0.971000	0.41717	0.671000	0.39405	3.610000	0.54125	0.881000	0.35993	-0.609000	0.04063	GAT	.	.		0.567	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239	
USP22	23326	hgsc.bcm.edu	37	17	20914512	20914512	+	Missense_Mutation	SNP	C	C	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr17:20914512C>A	ENST00000261497.4	-	8	1258	c.1055G>T	c.(1054-1056)gGg>gTg	p.G352V	USP22_ENST00000455117.2_Intron|USP22_ENST00000537526.2_Missense_Mutation_p.G340V	NM_015276.1	NP_056091.1	Q9UPT9	UBP22_HUMAN	ubiquitin specific peptidase 22	352	USP.				cell cycle (GO:0007049)|chromatin organization (GO:0006325)|embryo development (GO:0009790)|histone deubiquitination (GO:0016578)|histone H4 acetylation (GO:0043967)|histone ubiquitination (GO:0016574)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|protein deubiquitination (GO:0016579)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	SAGA complex (GO:0000124)	enzyme binding (GO:0019899)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|transcription coactivator activity (GO:0003713)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	15						GTGGCTTTCCCCGTTTACCAC	0.662																																					p.G352V		Atlas-SNP	.											.	USP22	45	.	0			c.G1055T						.						37.0	42.0	40.0					17																	20914512		2083	4216	6299	SO:0001583	missense	23326	exon8			CTTTCCCCGTTTA	AB028986	CCDS42285.1	17p11.2	2006-11-24	2005-08-08		ENSG00000124422	ENSG00000124422		"""Ubiquitin-specific peptidases"""	12621	protein-coding gene	gene with protein product		612116	"""ubiquitin specific protease 22"", ""ubiquitin specific peptidase 3-like"""	USP3L		12838346	Standard	NM_015276		Approved	KIAA1063	uc002gym.4	Q9UPT9	OTTHUMG00000133621	ENST00000261497.4:c.1055G>T	chr17.hg19:g.20914512C>A	ENSP00000261497:p.Gly352Val	95.0	0.0		92.0	4.0	NM_015276	A0JNS3|Q2NLE2|Q6MZY4|Q8TBS8|Q96IW5	Missense_Mutation	SNP	ENST00000261497.4	hg19	CCDS42285.1	.	.	.	.	.	.	.	.	.	.	C	16.79	3.221600	0.58560	.	.	ENSG00000124422	ENST00000455117;ENST00000537526;ENST00000261497	T;T	0.10382	2.88;2.88	4.05	4.05	0.47172	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.064498	0.64402	D	0.000012	T	0.32912	0.0845	M	0.81802	2.56	0.80722	D	1	P;D	0.61697	0.829;0.99	P;D	0.63033	0.743;0.91	T	0.25012	-1.0144	10	0.51188	T	0.08	.	16.6186	0.84924	0.0:1.0:0.0:0.0	.	340;352	Q9UPT9-2;Q9UPT9	.;UBP22_HUMAN	V	420;340;352	ENSP00000440950:G340V;ENSP00000261497:G352V	ENSP00000261497:G352V	G	-	2	0	USP22	20855104	1.000000	0.71417	0.917000	0.36280	0.344000	0.29017	6.973000	0.76116	1.978000	0.57642	0.558000	0.71614	GGG	.	.		0.662	USP22-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444169.1		
PIGS	94005	hgsc.bcm.edu	37	17	26888474	26888474	+	Missense_Mutation	SNP	G	G	T	rs116094938		TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr17:26888474G>T	ENST00000308360.7	-	6	1017	c.642C>A	c.(640-642)agC>agA	p.S214R	PIGS_ENST00000543734.1_Missense_Mutation_p.S153R|PIGS_ENST00000465444.1_5'UTR|PIGS_ENST00000395346.2_Missense_Mutation_p.S206R	NM_033198.3	NP_149975.1	Q96S52	PIGS_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class S	214					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|membrane (GO:0016020)	GPI-anchor transamidase activity (GO:0003923)			breast(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(42;0.00431)					TCTTCTCAGCGCTCCACTTGT	0.577																																					p.S214R		Atlas-SNP	.											.	PIGS	42	.	0			c.C642A						.						71.0	58.0	63.0					17																	26888474		2203	4300	6503	SO:0001583	missense	94005	exon6			CTCAGCGCTCCAC		CCDS11235.1	17p13.2	2013-02-26	2006-06-28		ENSG00000087111	ENSG00000087111		"""Phosphatidylinositol glycan anchor biosynthesis"""	14937	protein-coding gene	gene with protein product	"""GPI transamidase subunit"""	610271	"""phosphatidylinositol glycan, class S"""				Standard	NM_033198		Approved		uc002hbo.2	Q96S52	OTTHUMG00000132604	ENST00000308360.7:c.642C>A	chr17.hg19:g.26888474G>T	ENSP00000309430:p.Ser214Arg	141.0	0.0		82.0	5.0	NM_033198	Q6UVX6	Missense_Mutation	SNP	ENST00000308360.7	hg19	CCDS11235.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.306199	0.81247	.	.	ENSG00000087111	ENST00000395346;ENST00000308360;ENST00000543734	T;T;T	0.47869	0.85;0.85;0.83	5.68	3.69	0.42338	.	0.150347	0.85682	D	0.000000	T	0.57799	0.2078	L	0.49126	1.545	0.38285	D	0.942535	D;D	0.89917	1.0;1.0	D;D	0.77004	0.989;0.982	T	0.56637	-0.7946	10	0.17832	T	0.49	-16.7225	12.2614	0.54652	0.1406:0.0:0.8594:0.0	.	214;206	Q96S52;Q96S52-2	PIGS_HUMAN;.	R	206;214;153	ENSP00000378755:S206R;ENSP00000309430:S214R;ENSP00000438447:S153R	ENSP00000309430:S214R	S	-	3	2	PIGS	23912601	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	2.504000	0.45416	1.411000	0.46957	0.655000	0.94253	AGC	.	G|1.000;A|0.000		0.577	PIGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255833.3	NM_033198	
PHF12	57649	hgsc.bcm.edu	37	17	27251158	27251158	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr17:27251158T>C	ENST00000332830.4	-	4	1294	c.484A>G	c.(484-486)Agc>Ggc	p.S162G	PHF12_ENST00000582655.1_5'UTR|RP11-20B24.5_ENST00000582631.1_RNA|PHF12_ENST00000577226.1_Missense_Mutation_p.S162G|PHF12_ENST00000268756.3_Missense_Mutation_p.S162G|RP11-20B24.5_ENST00000580782.1_RNA	NM_001033561.1	NP_001028733.1			PHD finger protein 12											breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			CCAGGCCTGCTGGCTCTCCTT	0.557																																					p.S162G		Atlas-SNP	.											.	PHF12	69	.	0			c.A484G						.						91.0	74.0	79.0					17																	27251158		2203	4300	6503	SO:0001583	missense	57649	exon4			GCCTGCTGGCTCT	AB040956	CCDS11247.1, CCDS32598.1	17q11.2	2013-01-28			ENSG00000109118	ENSG00000109118		"""Zinc fingers, PHD-type"""	20816	protein-coding gene	gene with protein product						11390640	Standard	XM_005258015		Approved	PF1, KIAA1523	uc002hdg.1	Q96QT6	OTTHUMG00000132676	ENST00000332830.4:c.484A>G	chr17.hg19:g.27251158T>C	ENSP00000329933:p.Ser162Gly	275.0	0.0		186.0	8.0	NM_020889		Missense_Mutation	SNP	ENST00000332830.4	hg19	CCDS32598.1	.	.	.	.	.	.	.	.	.	.	T	24.8	4.575786	0.86645	.	.	ENSG00000109118	ENST00000332830;ENST00000378879;ENST00000268756	D;D;D	0.96491	-3.71;-4.03;-4.03	5.69	5.69	0.88448	.	0.077767	0.85682	D	0.000000	D	0.97158	0.9071	L	0.53249	1.67	0.80722	D	1	D;D;D;D	0.69078	0.993;0.996;0.997;0.993	D;D;D;D	0.73380	0.956;0.98;0.97;0.956	D	0.96850	0.9624	10	0.39692	T	0.17	-11.6092	14.7509	0.69525	0.0:0.0:0.0:1.0	.	144;162;162;162	B4DFE2;Q96QT6-2;Q2TAK2;Q96QT6	.;.;.;PHF12_HUMAN	G	162	ENSP00000329933:S162G;ENSP00000368157:S162G;ENSP00000268756:S162G	ENSP00000268756:S162G	S	-	1	0	PHF12	24275284	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.866000	0.69590	2.163000	0.67991	0.533000	0.62120	AGC	.	.		0.557	PHF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255941.1	NM_020889	
NF1	4763	hgsc.bcm.edu	37	17	29490211	29490211	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr17:29490211A>G	ENST00000358273.4	+	4	679	c.296A>G	c.(295-297)aAg>aGg	p.K99R	NF1_ENST00000431387.4_Missense_Mutation_p.K99R|NF1_ENST00000356175.3_Missense_Mutation_p.K99R	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	99					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TAGCAACCAAAGGACACAATG	0.343			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																											p.K99R		Atlas-SNP	.	yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	.	NF1	1586	.	12	Whole gene deletion(8)|Unknown(4)	soft_tissue(7)|autonomic_ganglia(3)|central_nervous_system(2)	c.A296G						.						62.0	64.0	63.0					17																	29490211		2203	4300	6503	SO:0001583	missense	4763	exon4	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	AACCAAAGGACAC		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.296A>G	chr17.hg19:g.29490211A>G	ENSP00000351015:p.Lys99Arg	111.0	0.0		100.0	4.0	NM_001128147	O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	ENST00000358273.4	hg19	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	A	15.23	2.772791	0.49680	.	.	ENSG00000196712	ENST00000431387;ENST00000358273;ENST00000356175	T;T;T	0.81415	-1.49;-1.49;-1.49	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	D	0.88753	0.6522	M	0.74881	2.28	0.80722	D	1	D;D;D;D	0.63046	0.974;0.992;0.974;0.974	D;P;D;D	0.70487	0.969;0.784;0.969;0.969	D	0.87679	0.2546	10	0.34782	T	0.22	.	16.2055	0.82126	1.0:0.0:0.0:0.0	.	99;99;99;99	P21359-2;P21359;Q14931;P21359-3	.;NF1_HUMAN;.;.	R	99	ENSP00000412921:K99R;ENSP00000351015:K99R;ENSP00000348498:K99R	ENSP00000348498:K99R	K	+	2	0	NF1	26514337	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.565000	0.90730	2.226000	0.72624	0.482000	0.46254	AAG	.	.		0.343	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267	
MYO19	80179	hgsc.bcm.edu	37	17	34884035	34884035	+	Splice_Site	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr17:34884035T>C	ENST00000431794.3	-	4	535		c.e4-2		MYO19_ENST00000586007.1_Splice_Site|MYO19_ENST00000544606.1_Intron|MYO19_ENST00000268852.9_Splice_Site	NM_001163735.1	NP_001157207.1	Q96H55	MYO19_HUMAN	myosin XIX							cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		GCCATTGACCTGGAAGAGATA	0.577																																					.		Atlas-SNP	.											.	MYO19	130	.	0			c.13-2A>G						.						30.0	31.0	30.0					17																	34884035		1950	4137	6087	SO:0001630	splice_region_variant	80179	exon6			TTGACCTGGAAGA	BC008900	CCDS45654.1, CCDS54112.1, CCDS59283.1	17q12	2014-08-12	2007-09-26	2007-09-26	ENSG00000278259	ENSG00000278259		"""Myosins / Myosin superfamily : Class XIX"""	26234	protein-coding gene	gene with protein product			"""myosin head domain containing 1"""	MYOHD1		17877792, 19932026	Standard	NM_001033580		Approved	FLJ22865	uc010wcy.2	Q96H55	OTTHUMG00000188437	ENST00000431794.3:c.13-2A>G	chr17.hg19:g.34884035T>C		75.0	0.0		50.0	4.0	NM_025109	Q59GS4|Q9H5X2	Splice_Site	SNP	ENST00000431794.3	hg19	CCDS54112.1	.	.	.	.	.	.	.	.	.	.	T	17.88	3.497112	0.64186	.	.	ENSG00000141140	ENST00000431794;ENST00000268852	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.161	0.42851	0.1485:0.0:0.0:0.8515	.	.	.	.	.	-1	.	.	.	-	.	.	MYO19	31958148	1.000000	0.71417	0.629000	0.29254	0.965000	0.64279	4.143000	0.58051	2.291000	0.77112	0.533000	0.62120	.	.	.		0.577	MYO19-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451074.1	NM_025109	Intron
ACACA	31	hgsc.bcm.edu	37	17	35598872	35598872	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr17:35598872T>C	ENST00000394406.2	-	23	3108	c.2918A>G	c.(2917-2919)cAg>cGg	p.Q973R	ACACA_ENST00000353139.5_Missense_Mutation_p.Q1010R|ACACA_ENST00000335166.5_Missense_Mutation_p.Q895R|ACACA_ENST00000360679.3_Missense_Mutation_p.Q915R	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	973					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TTACTACCTCTGTACCAGCTG	0.403																																					p.Q1010R	Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	Atlas-SNP	.											.	ACACA	395	.	0			c.A3029G						.						116.0	102.0	107.0					17																	35598872		2203	4300	6503	SO:0001583	missense	31	exon23			TACCTCTGTACCA	U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 1"""	200350	"""acetyl-Coenzyme A carboxylase alpha"""	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.2918A>G	chr17.hg19:g.35598872T>C	ENSP00000377928:p.Gln973Arg	224.0	0.0		121.0	5.0	NM_198834	B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Missense_Mutation	SNP	ENST00000394406.2	hg19	CCDS11317.1	.	.	.	.	.	.	.	.	.	.	T	14.16	2.451271	0.43531	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	4.89	4.89	0.63831	Acetyl-CoA carboxylase, central domain (1);	0.059531	0.64402	D	0.000001	T	0.43211	0.1237	L	0.56340	1.77	0.80722	D	1	P;B;B	0.38978	0.652;0.059;0.048	B;B;B	0.42827	0.399;0.036;0.021	T	0.26950	-1.0088	10	0.26408	T	0.33	.	13.8335	0.63395	0.0:0.0:0.0:1.0	.	1010;973;915	Q13085-4;Q13085;Q13085-2	.;ACACA_HUMAN;.	R	1010;915;973;997;895	ENSP00000344789:Q1010R;ENSP00000353898:Q915R;ENSP00000377928:Q973R;ENSP00000335323:Q895R	ENSP00000335323:Q895R	Q	-	2	0	ACACA	32672985	1.000000	0.71417	0.994000	0.49952	0.584000	0.36387	7.868000	0.87116	2.049000	0.60858	0.482000	0.46254	CAG	.	.		0.403	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	NM_198836	
PIP4K2B	8396	hgsc.bcm.edu	37	17	36934625	36934625	+	Splice_Site	SNP	C	C	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr17:36934625C>T	ENST00000269554.3	-	6	1135	c.655G>A	c.(655-657)Ggt>Agt	p.G219S	PIP4K2B_ENST00000311500.6_5'UTR	NM_003559.4	NP_003550.1	P78356	PI42B_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, beta	219	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				cell surface receptor signaling pathway (GO:0007166)|intracellular signal transduction (GO:0035556)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|1-phosphatidylinositol-5-phosphate 4-kinase activity (GO:0016309)|ATP binding (GO:0005524)|receptor signaling protein activity (GO:0005057)			endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)	19						ACCGTAGAACCCTGAAAGGAT	0.532																																					p.G219S		Atlas-SNP	.											.	PIP4K2B	35	.	0			c.G655A						.						159.0	153.0	155.0					17																	36934625		2203	4300	6503	SO:0001630	splice_region_variant	8396	exon6			TAGAACCCTGAAA	U85245	CCDS11329.1	17q21.2	2007-08-14	2007-08-14	2007-08-14		ENSG00000276293	2.7.1.149		8998	protein-coding gene	gene with protein product		603261	"""phosphatidylinositol-4-phosphate 5-kinase, type II, beta"""	PIP5K2B		9038203, 14691457, 9367159	Standard	NM_003559		Approved	PIP5KIIB, PIP5KIIbeta	uc002hqs.3	P78356		ENST00000269554.3:c.655-1G>A	chr17.hg19:g.36934625C>T		71.0	0.0		55.0	4.0	NM_003559	Q5U0E8|Q8TBP2	Missense_Mutation	SNP	ENST00000269554.3	hg19	CCDS11329.1	.	.	.	.	.	.	.	.	.	.	C	35	5.475791	0.96291	.	.	ENSG00000141720	ENST00000269554;ENST00000311500	T	0.79454	-1.27	4.82	4.82	0.62117	Phosphatidylinositol-4-phosphate 5-kinase, core (2);Phosphatidylinositol-4-phosphate 5-kinase, core, subgroup (1);	0.052327	0.85682	D	0.000000	D	0.93067	0.7793	H	0.98883	4.36	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.999	D	0.95751	0.8792	10	0.87932	D	0	-13.5437	16.6288	0.85011	0.0:1.0:0.0:0.0	.	219;219;219	C9JMM2;P78356-2;P78356	.;.;PI42B_HUMAN	S	219	ENSP00000269554:G219S	ENSP00000269554:G219S	G	-	1	0	PIP4K2B	34188151	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.110000	0.77069	2.516000	0.84829	0.561000	0.74099	GGT	.	.		0.532	PIP4K2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256791.1	NM_003559	Missense_Mutation
MED24	9862	hgsc.bcm.edu	37	17	38187435	38187435	+	Missense_Mutation	SNP	G	G	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr17:38187435G>T	ENST00000394128.2	-	12	1212	c.1131C>A	c.(1129-1131)agC>agA	p.S377R	MED24_ENST00000394127.2_Missense_Mutation_p.S364R|MED24_ENST00000394126.1_Missense_Mutation_p.S402R|MED24_ENST00000356271.3_Missense_Mutation_p.S364R|MED24_ENST00000501516.3_Missense_Mutation_p.S396R|MED24_ENST00000479829.1_5'Flank	NM_014815.3	NP_055630.2	O75448	MED24_HUMAN	mediator complex subunit 24	377					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterooligomerization (GO:0051291)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	41	Colorectal(19;0.000442)					GGTTGTTGACGCTGGCCTCAG	0.557																																					p.S377R		Atlas-SNP	.											.	MED24	89	.	0			c.C1131A						.						83.0	64.0	70.0					17																	38187435		2202	4298	6500	SO:0001583	missense	9862	exon12			GTTGACGCTGGCC	AF055995	CCDS11359.1, CCDS42315.1	17q21.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000008838	ENSG00000008838			22963	protein-coding gene	gene with protein product		607000	"""thyroid hormone receptor associated protein 4"", ""cofactor required for Sp1 transcriptional activation, subunit 4, 100kDa"""	THRAP4, CRSP4			Standard	NM_001079518		Approved	TRAP100, KIAA0130, DRIP100, CRSP100	uc002htt.3	O75448	OTTHUMG00000133329	ENST00000394128.2:c.1131C>A	chr17.hg19:g.38187435G>T	ENSP00000377686:p.Ser377Arg	163.0	0.0		107.0	5.0	NM_014815	A8K4S5|B3KMR9|Q14143|Q9NNY5	Missense_Mutation	SNP	ENST00000394128.2	hg19	CCDS11359.1	.	.	.	.	.	.	.	.	.	.	G	11.58	1.681603	0.29872	.	.	ENSG00000008838	ENST00000394126;ENST00000356271;ENST00000394128;ENST00000535071;ENST00000394127;ENST00000536318;ENST00000431269	T;T;T	0.41758	0.99;0.99;0.99	6.11	-9.51	0.00581	Mediator complex, subunit Med24, N-terminal (1);	0.257624	0.43110	D	0.000601	T	0.24928	0.0605	N	0.08118	0	0.09310	N	1	B;B;B;B;B;B	0.27286	0.116;0.044;0.107;0.144;0.174;0.107	B;B;B;B;B;B	0.26416	0.069;0.041;0.059;0.041;0.069;0.059	T	0.11203	-1.0597	10	0.51188	T	0.08	-0.609	28.2319	0.99998	0.117:0.0:0.883:0.0	.	318;327;287;364;377;319	B4DSQ6;F5H5K2;F8W9R9;O75448-2;O75448;F5H0K1	.;.;.;.;MED24_HUMAN;.	R	377;377;377;327;364;319;287	ENSP00000377686:S377R;ENSP00000443344:S327R;ENSP00000377685:S364R	ENSP00000348610:S377R	S	-	3	2	MED24	35440961	0.841000	0.29509	0.000000	0.03702	0.016000	0.09150	0.241000	0.18065	-2.201000	0.00746	-1.851000	0.00568	AGC	.	.		0.557	MED24-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257147.2	NM_014815	
KRTAP4-9	100132386	hgsc.bcm.edu	37	17	39261994	39261994	+	Silent	SNP	G	G	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr17:39261994G>A	ENST00000391415.1	+	1	411	c.354G>A	c.(352-354)agG>agA	p.R118R		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	118	29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						GCCACCCTAGGtgctgcatct	0.667																																					p.R118R		Atlas-SNP	.											KRTAP4-9_ENST00000377734,NS,carcinoma,0,2	KRTAP4-9	110	.	0			c.G354A						.						26.0	30.0	29.0					17																	39261994		692	1591	2283	SO:0001819	synonymous_variant	100132386	exon1			CCCTAGGTGCTGC	AJ406941	CCDS54124.1	17q21.2	2013-06-25			ENSG00000212722	ENSG00000212722		"""Keratin associated proteins"""	18910	protein-coding gene	gene with protein product							Standard	NM_001146041		Approved	KAP4.9	uc010wfp.2	Q9BYQ8	OTTHUMG00000133584	ENST00000391415.1:c.354G>A	chr17.hg19:g.39261994G>A		86.0	1.0		56.0	3.0	NM_001146041		Silent	SNP	ENST00000391415.1	hg19	CCDS54124.1																																																																																			.	.		0.667	KRTAP4-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257688.1	NM_001146041	
KRTAP4-11	653240	hgsc.bcm.edu	37	17	39274140	39274140	+	Missense_Mutation	SNP	C	C	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr17:39274140C>A	ENST00000391413.2	-	1	466	c.428G>T	c.(427-429)aGc>aTc	p.S143I		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	143	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament (GO:0045095)				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			gcggcagcagctggagatgct	0.662																																					p.S143I		Atlas-SNP	.											.	KRTAP4-11	94	.	0			c.G428T						.						7.0	12.0	11.0					17																	39274140		688	1586	2274	SO:0001583	missense	653240	exon1			CAGCAGCTGGAGA	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"""Keratin associated proteins"""	18911	protein-coding gene	gene with protein product			"""keratin associated protein 4-14"""	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.428G>T	chr17.hg19:g.39274140C>A	ENSP00000375232:p.Ser143Ile	148.0	0.0		97.0	18.0	NM_033059	A0AUY2	Missense_Mutation	SNP	ENST00000391413.2	hg19	CCDS45675.1	.	.	.	.	.	.	.	.	.	.	.	15.59	2.878322	0.51801	.	.	ENSG00000212721	ENST00000391413	T	0.01516	4.81	4.29	1.58	0.23477	.	.	.	.	.	T	0.03053	0.0090	M	0.83384	2.64	0.09310	N	1	B	0.25850	0.136	B	0.23716	0.048	T	0.39440	-0.9614	9	0.51188	T	0.08	.	2.2044	0.03932	0.1862:0.3472:0.3494:0.1172	.	143	Q9BYQ6	KR411_HUMAN	I	143	ENSP00000375232:S143I	ENSP00000375232:S143I	S	-	2	0	KRTAP4-11	36527666	0.019000	0.18553	0.968000	0.41197	0.759000	0.43091	0.449000	0.21744	0.775000	0.33450	0.397000	0.26171	AGC	.	.		0.662	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1		
KRT15	3866	hgsc.bcm.edu	37	17	39673092	39673092	+	Missense_Mutation	SNP	C	C	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr17:39673092C>T	ENST00000254043.3	-	3	4291	c.706G>A	c.(706-708)Gag>Aag	p.E236K	KRT15_ENST00000393974.3_Missense_Mutation_p.E71K|KRT15_ENST00000393981.3_Missense_Mutation_p.E71K|KRT15_ENST00000393976.2_Missense_Mutation_p.E236K	NM_002275.3	NP_002266	P19012	K1C15_HUMAN	keratin 15	236	Coil 1B.|Rod.				epidermis development (GO:0008544)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				TAGGCTAGCTCCTCATTCAGG	0.587																																					p.E236K		Atlas-SNP	.											.	KRT15	60	.	0			c.G706A						.						98.0	86.0	90.0					17																	39673092		2203	4300	6503	SO:0001583	missense	3866	exon3			CTAGCTCCTCATT		CCDS11398.1	17q21.2	2013-06-20			ENSG00000171346	ENSG00000171346		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6421	protein-coding gene	gene with protein product	"""keratin-15, basic"", ""keratin-15, beta"", ""type I cytoskeletal 15"", ""cytokeratin 15"""	148030				16831889	Standard	NM_002275		Approved	K15, CK15, K1CO	uc002hwy.3	P19012	OTTHUMG00000133435	ENST00000254043.3:c.706G>A	chr17.hg19:g.39673092C>T	ENSP00000254043:p.Glu236Lys	198.0	0.0		98.0	4.0	NM_002275	B3KQY1|B3KRA2|E0CX14|Q53XV8|Q9BUG4	Missense_Mutation	SNP	ENST00000254043.3	hg19	CCDS11398.1	.	.	.	.	.	.	.	.	.	.	C	36	5.749084	0.96882	.	.	ENSG00000171346	ENST00000254043;ENST00000393974;ENST00000393976;ENST00000393981;ENST00000458290	D;D;D;D;D	0.93019	-3.15;-3.15;-3.15;-3.15;-3.15	4.67	4.67	0.58626	Filament (1);	0.140060	0.32231	N	0.006400	D	0.97980	0.9335	H	0.97564	4.03	0.80722	D	1	D;D;D	0.76494	0.971;0.999;0.999	P;D;D	0.74674	0.868;0.984;0.984	D	0.99651	1.0991	10	0.87932	D	0	.	17.7614	0.88465	0.0:1.0:0.0:0.0	.	71;236;236	A8MT21;B3KVF5;P19012	.;.;K1C15_HUMAN	K	236;71;236;71;71	ENSP00000254043:E236K;ENSP00000377544:E71K;ENSP00000377546:E236K;ENSP00000377550:E71K;ENSP00000409282:E71K	ENSP00000254043:E236K	E	-	1	0	KRT15	36926618	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	5.920000	0.70017	2.412000	0.81896	0.655000	0.94253	GAG	.	.		0.587	KRT15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257301.1	NM_002275	
HAP1	9001	hgsc.bcm.edu	37	17	39889015	39889015	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr17:39889015T>C	ENST00000310778.5	-	2	514	c.505A>G	c.(505-507)Atc>Gtc	p.I169V	RN7SL399P_ENST00000471648.2_RNA|HAP1_ENST00000393939.2_Missense_Mutation_p.I169V|JUP_ENST00000540235.1_Intron|HAP1_ENST00000347901.4_Missense_Mutation_p.I169V|HAP1_ENST00000341193.5_Missense_Mutation_p.I169V			P54257	HAP1_HUMAN	huntingtin-associated protein 1	169	HAP1 N-terminal.				anterograde axon cargo transport (GO:0008089)|autophagy (GO:0006914)|brain development (GO:0007420)|cell projection organization (GO:0030030)|exocytosis (GO:0006887)|negative regulation of beta-amyloid formation (GO:1902430)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|positive regulation of neurotrophin production (GO:0032901)|positive regulation of nonmotile primary cilium assembly (GO:1902857)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|protein localization (GO:0008104)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|regulation of organelle transport along microtubule (GO:1902513)|retrograde axon cargo transport (GO:0008090)|synaptic transmission (GO:0007268)|vesicle transport along microtubule (GO:0047496)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|inclusion body (GO:0016234)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|synapse (GO:0045202)	brain-derived neurotrophic factor binding (GO:0048403)|ion channel binding (GO:0044325)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			TCCTGGGTGATCTTTTTGACT	0.527																																					p.I169V		Atlas-SNP	.											.	HAP1	48	.	0			c.A505G						.						145.0	125.0	132.0					17																	39889015		2203	4300	6503	SO:0001583	missense	9001	exon2			GGGTGATCTTTTT	AF040723	CCDS11406.1, CCDS42338.1, CCDS42339.1	17q21.2-q21.3	2008-04-23	2008-04-23		ENSG00000173805	ENSG00000173805			4812	protein-coding gene	gene with protein product	"""neuroan 1"""	600947		HAP2		7477378, 9668110	Standard	NM_177977		Approved	HLP, hHLP1, HIP5	uc002hxn.1	P54257	OTTHUMG00000133498	ENST00000310778.5:c.505A>G	chr17.hg19:g.39889015T>C	ENSP00000309392:p.Ile169Val	250.0	0.0		130.0	6.0	NM_177977	A8MQB5|O75358|Q59GK4|Q9H4G3|Q9HA98|Q9NY90	Missense_Mutation	SNP	ENST00000310778.5	hg19		.	.	.	.	.	.	.	.	.	.	T	9.774	1.173555	0.21704	.	.	ENSG00000173805	ENST00000393939;ENST00000310778;ENST00000347901;ENST00000341193	T;T;T;T	0.08102	3.15;3.31;3.29;3.13	2.75	1.66	0.24008	.	0.190363	0.26038	N	0.026706	T	0.18173	0.0436	L	0.57536	1.79	0.23589	N	0.997341	P;P;P;P	0.47604	0.876;0.876;0.876;0.898	P;P;D;D	0.68192	0.894;0.894;0.927;0.956	T	0.02813	-1.1107	10	0.49607	T	0.09	-7.7441	4.6019	0.12357	0.0:0.1545:0.0:0.8455	.	169;169;169;169	P54257-3;P54257-4;P54257-2;P54257	.;.;.;HAP1_HUMAN	V	169	ENSP00000377513:I169V;ENSP00000309392:I169V;ENSP00000334002:I169V;ENSP00000343170:I169V	ENSP00000309392:I169V	I	-	1	0	HAP1	37142541	0.998000	0.40836	0.995000	0.50966	0.011000	0.07611	1.365000	0.34182	0.464000	0.27142	0.374000	0.22700	ATC	.	.		0.527	HAP1-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000389619.1	NM_003949	
FKBP10	60681	hgsc.bcm.edu	37	17	39976640	39976640	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr17:39976640A>G	ENST00000321562.4	+	7	1287	c.1183A>G	c.(1183-1185)Acc>Gcc	p.T395A	FKBP10_ENST00000544340.1_Missense_Mutation_p.T168A	NM_021939.3	NP_068758.3	Q96AY3	FKB10_HUMAN	FK506 binding protein 10, 65 kDa	395					chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(137;0.00122)		BRCA - Breast invasive adenocarcinoma(366;0.148)		CTGCAATGAGACCACCAAGCT	0.567																																					p.T395A		Atlas-SNP	.											.	FKBP10	57	.	0			c.A1183G						.						168.0	159.0	162.0					17																	39976640		2203	4300	6503	SO:0001583	missense	60681	exon7			AATGAGACCACCA	AB045981	CCDS11409.1	17q21.2	2014-09-17	2002-08-29		ENSG00000141756	ENSG00000141756		"""EF-hand domain containing"""	18169	protein-coding gene	gene with protein product		607063	"""FK506 binding protein 10 (65 kDa)"""			11071917, 18786928	Standard	NM_021939		Approved	hFKBP65, FLJ22041, FKBP6, FLJ20683, FLJ23833	uc002hxv.2	Q96AY3	OTTHUMG00000133497	ENST00000321562.4:c.1183A>G	chr17.hg19:g.39976640A>G	ENSP00000317232:p.Thr395Ala	221.0	0.0		140.0	6.0	NM_021939	Q7Z3R4|Q9H3N3|Q9H6J3|Q9H6N5|Q9UF89	Missense_Mutation	SNP	ENST00000321562.4	hg19	CCDS11409.1	.	.	.	.	.	.	.	.	.	.	A	15.28	2.785597	0.49997	.	.	ENSG00000141756	ENST00000269598;ENST00000321562;ENST00000414352;ENST00000544340	D;D	0.85702	-2.02;-2.02	5.38	5.38	0.77491	Peptidyl-prolyl cis-trans isomerase, FKBP-type, domain (1);	0.000000	0.49916	D	0.000126	D	0.85195	0.5641	L	0.37800	1.135	0.53688	D	0.999977	P;P	0.50443	0.872;0.935	P;P	0.57620	0.688;0.824	T	0.81182	-0.1049	10	0.10111	T	0.7	-11.6624	15.3508	0.74384	1.0:0.0:0.0:0.0	.	168;395	Q9H6J3;Q96AY3	.;FKB10_HUMAN	A	283;395;395;168	ENSP00000317232:T395A;ENSP00000442009:T168A	ENSP00000269598:T283A	T	+	1	0	FKBP10	37230166	1.000000	0.71417	0.991000	0.47740	0.393000	0.30537	5.885000	0.69736	2.182000	0.69389	0.533000	0.62120	ACC	.	.		0.567	FKBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257410.2	NM_021939	
KAT2A	2648	hgsc.bcm.edu	37	17	40266531	40266531	+	Missense_Mutation	SNP	G	G	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr17:40266531G>T	ENST00000225916.5	-	14	2164	c.2111C>A	c.(2110-2112)cCt>cAt	p.P704H	DHX58_ENST00000251642.3_5'Flank	NM_021078.2	NP_066564.2	Q92830	KAT2A_HUMAN	K(lysine) acetyltransferase 2A	704					cell proliferation (GO:0008283)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|histone deubiquitination (GO:0016578)|histone H3 acetylation (GO:0043966)|histone H3-K14 acetylation (GO:0044154)|in utero embryonic development (GO:0001701)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|positive regulation of gluconeogenesis (GO:0045722)|regulation of protein stability (GO:0031647)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|somitogenesis (GO:0001756)|telencephalon development (GO:0021537)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|extracellular space (GO:0005615)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	chromatin binding (GO:0003682)|H3 histone acetyltransferase activity (GO:0010484)|histone acetyltransferase activity (GO:0004402)|histone acetyltransferase activity (H4-K12 specific) (GO:0043997)|histone deacetylase binding (GO:0042826)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						GCTCTCCACAGGGATCTGCCT	0.572																																					p.P704H		Atlas-SNP	.											.	KAT2A	54	.	0			c.C2111A						.						169.0	160.0	163.0					17																	40266531		2203	4300	6503	SO:0001583	missense	2648	exon14			TCCACAGGGATCT	AF029777	CCDS11417.1	17q12-q21	2011-07-01	2008-07-04	2008-07-04	ENSG00000108773	ENSG00000108773		"""Chromatin-modifying enzymes / K-acetyltransferases"""	4201	protein-coding gene	gene with protein product		602301	"""GCN5 general control of amino-acid synthesis 5-like 2 (yeast)"""	GCN5L2		8552087	Standard	NM_021078		Approved	GCN5, PCAF-b	uc002hyx.2	Q92830	OTTHUMG00000133504	ENST00000225916.5:c.2111C>A	chr17.hg19:g.40266531G>T	ENSP00000225916:p.Pro704His	104.0	0.0		68.0	4.0	NM_021078	Q8N1A2|Q9UCW1	Missense_Mutation	SNP	ENST00000225916.5	hg19	CCDS11417.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.886894	0.91814	.	.	ENSG00000108773	ENST00000225916	T	0.05855	3.38	4.96	4.96	0.65561	Bromodomain (1);	0.051637	0.85682	D	0.000000	T	0.27384	0.0672	M	0.79123	2.44	0.80722	D	1	D	0.89917	1.0	D	0.72338	0.977	T	0.02805	-1.1108	10	0.87932	D	0	-8.5427	18.2093	0.89865	0.0:0.0:1.0:0.0	.	704	Q92830	KAT2A_HUMAN	H	704	ENSP00000225916:P704H	ENSP00000225916:P704H	P	-	2	0	KAT2A	37520057	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	9.813000	0.99286	2.296000	0.77279	0.462000	0.41574	CCT	.	.		0.572	KAT2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257458.1	NM_021078	
EZH1	2145	hgsc.bcm.edu	37	17	40870506	40870506	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr17:40870506G>T	ENST00000428826.2	-	9	1018	c.897C>A	c.(895-897)tgC>tgA	p.C299*	EZH1_ENST00000590078.1_Nonsense_Mutation_p.C229*|EZH1_ENST00000585893.1_Nonsense_Mutation_p.C259*|EZH1_ENST00000592743.1_Nonsense_Mutation_p.C299*|EZH1_ENST00000415827.2_Nonsense_Mutation_p.C290*|EZH1_ENST00000435174.1_Nonsense_Mutation_p.C160*			Q92800	EZH1_HUMAN	enhancer of zeste 1 polycomb repressive complex 2 subunit	299					anatomical structure morphogenesis (GO:0009653)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)			breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		AGCAGCGCCGGCAAAAAAGTG	0.537																																					p.C299X		Atlas-SNP	.											.	EZH1	62	.	0			c.C897A						.						88.0	82.0	84.0					17																	40870506		2203	4300	6503	SO:0001587	stop_gained	2145	exon9			GCGCCGGCAAAAA		CCDS32659.1	17q21.1-q21.3	2014-05-28	2014-05-28			ENSG00000108799		"""Chromatin-modifying enzymes / K-methyltransferases"""	3526	protein-coding gene	gene with protein product		601674	"""enhancer of zeste (Drosophila) homolog 1"", ""enhancer of zeste homolog 1 (Drosophila)"""			8921387	Standard	NM_001991		Approved	KIAA0388, KMT6B	uc002iaz.3	Q92800		ENST00000428826.2:c.897C>A	chr17.hg19:g.40870506G>T	ENSP00000404658:p.Cys299*	130.0	0.0		72.0	4.0	NM_001991	A6NCH6|B4DIJ1|B4DIZ7|B4DSS2|B4E3R7|O43287|Q14459|Q53XP3	Nonsense_Mutation	SNP	ENST00000428826.2	hg19	CCDS32659.1	.	.	.	.	.	.	.	.	.	.	G	37	6.333478	0.97480	.	.	ENSG00000108799	ENST00000264646;ENST00000428826;ENST00000415827;ENST00000435174	.	.	.	4.71	0.385	0.16249	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.6419	0.33983	0.3721:0.0:0.6279:0.0	.	.	.	.	X	302;299;259;160	.	ENSP00000264646:C302X	C	-	3	2	EZH1	38124032	1.000000	0.71417	0.980000	0.43619	0.998000	0.95712	1.558000	0.36309	0.035000	0.15519	0.655000	0.94253	TGC	.	.		0.537	EZH1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452347.1	NM_001991	
RUNDC1	146923	hgsc.bcm.edu	37	17	41142394	41142394	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr17:41142394A>G	ENST00000361677.1	+	4	929	c.917A>G	c.(916-918)aAg>aGg	p.K306R		NM_173079.2	NP_775102	Q96C34	RUND1_HUMAN	RUN domain containing 1	306										breast(1)|large_intestine(2)|lung(4)|prostate(1)	8		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)		GCCGGTGGGAAGACAGGAAAT	0.498																																					p.K306R		Atlas-SNP	.											.	RUNDC1	25	.	0			c.A917G						.						93.0	96.0	95.0					17																	41142394		2203	4300	6503	SO:0001583	missense	146923	exon4			GTGGGAAGACAGG	AL831813	CCDS11448.1	17q21.31	2004-02-27				ENSG00000198863			25418	protein-coding gene	gene with protein product						12477932	Standard	NM_173079		Approved	DKFZp761H0421	uc002ici.1	Q96C34		ENST00000361677.1:c.917A>G	chr17.hg19:g.41142394A>G	ENSP00000354622:p.Lys306Arg	155.0	0.0		98.0	4.0	NM_173079	Q6Y2K8|Q8IXT9|Q8N3W1	Missense_Mutation	SNP	ENST00000361677.1	hg19	CCDS11448.1	.	.	.	.	.	.	.	.	.	.	A	8.683	0.905695	0.17760	.	.	ENSG00000198863	ENST00000361677	T	0.18338	2.22	4.88	2.7	0.31948	.	0.464831	0.23165	N	0.051183	T	0.08492	0.0211	N	0.14661	0.345	0.34613	D	0.717808	B	0.10296	0.003	B	0.06405	0.002	T	0.20672	-1.0268	10	0.21540	T	0.41	-27.4736	7.3035	0.26434	0.8152:0.0:0.1848:0.0	.	306	Q96C34	RUND1_HUMAN	R	306	ENSP00000354622:K306R	ENSP00000354622:K306R	K	+	2	0	RUNDC1	38395920	0.998000	0.40836	0.999000	0.59377	0.396000	0.30629	2.109000	0.41863	1.006000	0.39211	0.460000	0.39030	AAG	.	.		0.498	RUNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452464.1	NM_173079	
BRCA1	672	hgsc.bcm.edu	37	17	41246557	41246557	+	Missense_Mutation	SNP	T	T	C	rs80359872		TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr17:41246557T>C	ENST00000357654.3	-	10	1109	c.991A>G	c.(991-993)Agg>Ggg	p.R331G	BRCA1_ENST00000471181.2_Missense_Mutation_p.R331G|BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000309486.4_Missense_Mutation_p.R35G|BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000493795.1_Missense_Mutation_p.R284G|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000354071.3_Missense_Mutation_p.R331G|BRCA1_ENST00000346315.3_Missense_Mutation_p.R331G	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	331					androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to indole-3-methanol (GO:0071681)|cellular response to tumor necrosis factor (GO:0071356)|chromosome segregation (GO:0007059)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|fatty acid biosynthetic process (GO:0006633)|G2 DNA damage checkpoint (GO:0031572)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of centriole replication (GO:0046600)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of DNA repair (GO:0045739)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of histone H4-K16 acetylation (GO:2000620)|positive regulation of histone H4-K20 methylation (GO:0070512)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to estrogen (GO:0043627)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|gamma-tubulin ring complex (GO:0008274)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GGAGTCCGCCTATCATTACAT	0.433			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																											p.R331G		Atlas-SNP	.	yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	familial breast/ovarian cancer gene 1		E	.	BRCA1	304	.	0			c.A991G						.						199.0	185.0	190.0					17																	41246557		2203	4300	6503	SO:0001583	missense	672	exon10	Familial Cancer Database		TCCGCCTATCATT	U14680	CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2	17q21.31	2014-09-17			ENSG00000012048	ENSG00000012048		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1100	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 1"", ""protein phosphatase 1, regulatory subunit 53"""	113705				1676470	Standard	NM_007300		Approved	RNF53, BRCC1, PPP1R53	uc002ict.3	P38398	OTTHUMG00000157426	ENST00000357654.3:c.991A>G	chr17.hg19:g.41246557T>C	ENSP00000350283:p.Arg331Gly	154.0	0.0		116.0	5.0	NM_007300	O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Missense_Mutation	SNP	ENST00000357654.3	hg19	CCDS11453.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	9.242|9.242	1.038477|1.038477	0.19669|0.19669	.|.	.|.	ENSG00000012048|ENSG00000012048	ENST00000473961|ENST00000357654;ENST00000412061;ENST00000354071;ENST00000346315;ENST00000309486;ENST00000471181;ENST00000493795;ENST00000470026;ENST00000477152;ENST00000497488;ENST00000494123	.|D;D;D;D;D;D;D;D;D;D	.|0.88509	.|-2.11;-2.23;-2.22;-2.04;-2.11;-2.24;-1.8;-1.8;-2.39;-1.8	4.95|4.95	2.78|2.78	0.32641|0.32641	.|.	.|0.188754	.|0.38605	.|N	.|0.001635	D|D	0.83751|0.83751	0.5322|0.5322	L|L	0.49640|0.49640	1.575|1.575	0.09310|0.09310	N|N	1|1	.|B;B;B;B;P;B	.|0.44986	.|0.016;0.016;0.211;0.191;0.847;0.421	.|B;B;B;B;B;B	.|0.43194	.|0.007;0.007;0.143;0.084;0.411;0.283	T|T	0.73388|0.73388	-0.3998|-0.3998	5|10	.|0.29301	.|T	.|0.29	.|.	6.6838|6.6838	0.23134|0.23134	0.0:0.2505:0.0:0.7495|0.0:0.2505:0.0:0.7495	.|.	.|331;290;331;331;331;331	.|E7EMP0;E7ERL4;Q5YLB2;E9PFC7;P38398;P38398-2	.|.;.;.;.;BRCA1_HUMAN;.	M|G	196|331;331;331;331;35;331;284;331;305;35;331	.|ENSP00000350283:R331G;ENSP00000326002:R331G;ENSP00000246907:R331G;ENSP00000310938:R35G;ENSP00000418960:R331G;ENSP00000418775:R284G;ENSP00000419274:R331G;ENSP00000419988:R305G;ENSP00000418986:R35G;ENSP00000419103:R331G	.|ENSP00000310938:R35G	I|R	-|-	3|1	3|2	BRCA1|BRCA1	38500083|38500083	0.003000|0.003000	0.15002|0.15002	0.980000|0.980000	0.43619|0.43619	0.604000|0.604000	0.37047|0.37047	0.380000|0.380000	0.20602|0.20602	1.027000|1.027000	0.39758|0.39758	0.533000|0.533000	0.62120|0.62120	ATA|AGG	.	.		0.433	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348798.2	NM_007294	
TMEM106A	113277	hgsc.bcm.edu	37	17	41365155	41365155	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr17:41365155A>G	ENST00000331615.3	+	3	332	c.95A>G	c.(94-96)aAc>aGc	p.N32S	TMEM106A_ENST00000541594.1_Intron|TMEM106A_ENST00000536052.1_Missense_Mutation_p.N32S|TMEM106A_ENST00000592564.1_3'UTR|TMEM106A_ENST00000588659.1_Missense_Mutation_p.N32S	NM_145041.1	NP_659478.1	Q96A25	T106A_HUMAN	transmembrane protein 106A	32						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11		Breast(137;0.0164)		BRCA - Breast invasive adenocarcinoma(366;0.0917)		AAGGCTGTCAACTACTCCAGC	0.537																																					p.N32S		Atlas-SNP	.											.	TMEM106A	20	.	0			c.A95G						.						110.0	97.0	101.0					17																	41365155		2203	4296	6499	SO:0001583	missense	113277	exon3			CTGTCAACTACTC	AK056132	CCDS11462.1, CCDS74073.1	17q21.31	2012-01-23			ENSG00000184988	ENSG00000184988			28288	protein-coding gene	gene with protein product							Standard	XM_006721658		Approved	MGC20235	uc002idn.1	Q96A25		ENST00000331615.3:c.95A>G	chr17.hg19:g.41365155A>G	ENSP00000330774:p.Asn32Ser	109.0	0.0		86.0	4.0	NM_145041	A8K2X2|B7Z698	Missense_Mutation	SNP	ENST00000331615.3	hg19	CCDS11462.1	.	.	.	.	.	.	.	.	.	.	G	4.958	0.177897	0.09443	.	.	ENSG00000184988	ENST00000331615;ENST00000536052	T;T	0.20332	2.08;2.08	4.81	2.81	0.32909	.	0.407137	0.27096	N	0.020958	T	0.06781	0.0173	N	0.02736	-0.51	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.40156	-0.9578	10	0.09843	T	0.71	-24.5471	6.3126	0.21173	0.4068:0.0:0.5932:0.0	.	32;32	B7Z779;Q96A25	.;T106A_HUMAN	S	32	ENSP00000330774:N32S;ENSP00000439835:N32S	ENSP00000330774:N32S	N	+	2	0	TMEM106A	38720681	0.085000	0.21516	0.683000	0.30040	0.055000	0.15305	0.169000	0.16641	0.241000	0.21283	-0.119000	0.15052	AAC	.	.		0.537	TMEM106A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453470.2	NM_145041	
FAM171A2	284069	hgsc.bcm.edu	37	17	42433683	42433683	+	Silent	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr17:42433683A>G	ENST00000293443.7	-	5	796	c.636T>C	c.(634-636)gcT>gcC	p.A212A		NM_198475.2	NP_940877.2	A8MVW0	F1712_HUMAN	family with sequence similarity 171, member A2	212						integral component of membrane (GO:0016021)											GCACGCTCACAGCAGTCAGGG	0.652																																					p.A212A		Atlas-SNP	.											.	FAM171A2	13	.	0			c.T636C						.						27.0	33.0	32.0					17																	42433683		692	1591	2283	SO:0001819	synonymous_variant	284069	exon5			GCTCACAGCAGTC		CCDS45701.1	17q21.31	2008-06-16			ENSG00000161682	ENSG00000161682			30480	protein-coding gene	gene with protein product						12477932	Standard	NM_198475		Approved	MGC34829	uc002igs.2	A8MVW0	OTTHUMG00000132421	ENST00000293443.7:c.636T>C	chr17.hg19:g.42433683A>G		89.0	0.0		80.0	4.0	NM_198475	A8MQB4	Silent	SNP	ENST00000293443.7	hg19	CCDS45701.1																																																																																			.	.		0.652	FAM171A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255559.2	NM_198475	
ITGA2B	3674	hgsc.bcm.edu	37	17	42461045	42461045	+	Silent	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr17:42461045T>C	ENST00000262407.5	-	12	1057	c.1026A>G	c.(1024-1026)ccA>ccG	p.P342P	ITGA2B_ENST00000353281.4_Silent_p.P342P|ITGA2B_ENST00000377068.3_Silent_p.P27P	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	342					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)	extracellular matrix binding (GO:0050840)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Abciximab(DB00054)|Tirofiban(DB00775)	CCATATACAGTGGAGCGCCCA	0.627																																					p.P342P		Atlas-SNP	.											.	ITGA2B	88	.	0			c.A1026G						.						19.0	18.0	18.0					17																	42461045		2201	4297	6498	SO:0001819	synonymous_variant	3674	exon12			ATACAGTGGAGCG		CCDS32665.1	17q21.32	2014-09-17	2006-02-22			ENSG00000005961		"""CD molecules"", ""Integrins"""	6138	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 93"""	607759	"""integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41B)"""	GP2B			Standard	NM_000419		Approved	CD41B, CD41, PPP1R93	uc002igt.1	P08514		ENST00000262407.5:c.1026A>G	chr17.hg19:g.42461045T>C		146.0	0.0		94.0	4.0	NM_000419	B2RCY8|O95366|Q14443|Q17R67	Silent	SNP	ENST00000262407.5	hg19	CCDS32665.1																																																																																			.	.		0.627	ITGA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439823.1		
MAPT	4137	hgsc.bcm.edu	37	17	44049223	44049223	+	Splice_Site	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr17:44049223A>G	ENST00000571987.1	+	2	133		c.e2-1		MAPT_ENST00000535772.1_Splice_Site|MAPT_ENST00000344290.5_Splice_Site|MAPT_ENST00000420682.2_Splice_Site|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000340799.5_Splice_Site|MAPT_ENST00000415613.2_Splice_Site|MAPT_ENST00000574436.1_Splice_Site|MAPT_ENST00000347967.5_Splice_Site|MAPT_ENST00000576518.1_5'Flank|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000262410.5_Splice_Site|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000351559.5_Splice_Site|MAPT_ENST00000431008.3_Splice_Site			P10636	TAU_HUMAN	microtubule-associated protein tau						adult walking behavior (GO:0007628)|apoptotic process (GO:0006915)|axon cargo transport (GO:0008088)|axon extension (GO:0048675)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|generation of neurons (GO:0048699)|microtubule cytoskeleton organization (GO:0000226)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of microtubule polymerization (GO:0031116)|regulation of autophagy (GO:0010506)|regulation of microtubule polymerization (GO:0031113)|regulation of microtubule-based movement (GO:0060632)	axon (GO:0030424)|axoneme (GO:0005930)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|growth cone (GO:0030426)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nuclear periphery (GO:0034399)|plasma membrane (GO:0005886)|tubulin complex (GO:0045298)	apolipoprotein binding (GO:0034185)|enzyme binding (GO:0019899)|lipoprotein particle binding (GO:0071813)|microtubule binding (GO:0008017)|SH3 domain binding (GO:0017124)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)			Docetaxel(DB01248)|Paclitaxel(DB01229)	TATGTGTTCCAGAATCTCCCC	0.592																																					.		Atlas-SNP	.											.	MAPT	135	.	0			c.134-2A>G						.						62.0	58.0	59.0					17																	44049223		2203	4300	6503	SO:0001630	splice_region_variant	4137	exon3			TGTTCCAGAATCT	J03778	CCDS11499.1, CCDS11500.1, CCDS11501.1, CCDS11502.1, CCDS45715.1, CCDS45716.1, CCDS56033.1	17q21	2014-09-17			ENSG00000186868	ENSG00000186868			6893	protein-coding gene	gene with protein product	"""G protein beta1/gamma2 subunit-interacting factor 1"", ""microtubule-associated protein tau, isoform 4"", ""protein phosphatase 1, regulatory subunit 103"""	157140		DDPAC, MAPTL		7936241, 3131773	Standard	NM_001123067		Approved	MTBT1, tau, PPND, FTDP-17, TAU, MSTD, MTBT2, FLJ31424, MGC138549, PPP1R103	uc010dau.3	P10636	OTTHUMG00000168833	ENST00000571987.1:c.134-1A>G	chr17.hg19:g.44049223A>G		85.0	0.0		57.0	4.0	NM_001123066	P18518|Q14799|Q15549|Q15550|Q15551|Q1RMF6|Q53YB1|Q5CZI7|Q5XWF0|Q6QT54|Q9UDJ3|Q9UMH0|Q9UQ96	Splice_Site	SNP	ENST00000571987.1	hg19	CCDS11501.1	.	.	.	.	.	.	.	.	.	.	A	13.21	2.170024	0.38315	.	.	ENSG00000186868	ENST00000344290;ENST00000262410;ENST00000351559;ENST00000340799;ENST00000535772;ENST00000354326;ENST00000420682;ENST00000415613	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.3055	0.54900	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MAPT	41405059	1.000000	0.71417	1.000000	0.80357	0.358000	0.29455	5.293000	0.65680	2.161000	0.67846	0.459000	0.35465	.	.	.		0.592	MAPT-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000440133.1	NM_016835	Intron
EFCAB13	124989	hgsc.bcm.edu	37	17	45451912	45451912	+	Missense_Mutation	SNP	A	A	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr17:45451912A>C	ENST00000331493.2	+	12	1363	c.952A>C	c.(952-954)Aaa>Caa	p.K318Q	EFCAB13_ENST00000517484.1_Missense_Mutation_p.K222Q	NM_152347.4	NP_689560.3	Q8IY85	EFC13_HUMAN	EF-hand calcium binding domain 13	318						cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)										ATGCTATCTAAAATATAAGAA	0.279																																					p.K318Q		Atlas-SNP	.											.	.	.	.	0			c.A952C						.						29.0	33.0	32.0					17																	45451912		2184	4253	6437	SO:0001583	missense	124989	exon12			TATCTAAAATATA	BC036407	CCDS11512.1, CCDS56034.1	17q21.32	2013-01-11	2012-07-20	2012-07-20	ENSG00000178852	ENSG00000178852		"""EF-hand domain containing"""	26864	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 57"""	C17orf57			Standard	NM_152347		Approved	FLJ40342	uc002iln.3	Q8IY85	OTTHUMG00000164767	ENST00000331493.2:c.952A>C	chr17.hg19:g.45451912A>C	ENSP00000332111:p.Lys318Gln	303.0	0.0		160.0	45.0	NM_152347	G3V128|Q49AG9	Missense_Mutation	SNP	ENST00000331493.2	hg19	CCDS11512.1	.	.	.	.	.	.	.	.	.	.	A	1.988	-0.432530	0.04669	.	.	ENSG00000178852	ENST00000331493;ENST00000517484;ENST00000344176	T;T	0.62105	0.41;0.05	3.09	0.885	0.19188	.	0.652062	0.13910	N	0.354315	T	0.27205	0.0667	N	0.00841	-1.15	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.24190	-1.0167	10	0.31617	T	0.26	-18.3861	7.802	0.29180	0.4552:0.5448:0.0:0.0	.	270;318;222	Q8N7U2;Q8IY85;G3V128	.;CQ057_HUMAN;.	Q	318;222;270	ENSP00000332111:K318Q;ENSP00000430048:K222Q	ENSP00000332111:K318Q	K	+	1	0	C17orf57	42806911	0.001000	0.12720	0.001000	0.08648	0.118000	0.20060	0.460000	0.21924	0.113000	0.18004	-0.261000	0.10672	AAA	.	.		0.279	EFCAB13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380147.4	NM_152347	
KPNB1	3837	hgsc.bcm.edu	37	17	45742517	45742517	+	Missense_Mutation	SNP	C	C	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr17:45742517C>T	ENST00000290158.4	+	9	1399	c.992C>T	c.(991-993)aCt>aTt	p.T331I	KPNB1_ENST00000540627.1_Missense_Mutation_p.T186I|KPNB1_ENST00000537679.1_Intron|KPNB1_ENST00000535458.2_Missense_Mutation_p.T186I	NM_001276453.1|NM_002265.4	NP_001263382.1|NP_002256.2	Q14974	IMB1_HUMAN	karyopherin (importin) beta 1	331	IAB-binding.				apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cytokine-mediated signaling pathway (GO:0019221)|intracellular transport of virus (GO:0075733)|NLS-bearing protein import into nucleus (GO:0006607)|protein import into nucleus (GO:0006606)|protein import into nucleus, translocation (GO:0000060)|ribosomal protein import into nucleus (GO:0006610)|small molecule metabolic process (GO:0044281)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum tubular network (GO:0071782)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|nuclear localization sequence binding (GO:0008139)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|protein transporter activity (GO:0008565)|zinc ion binding (GO:0008270)			breast(1)|ovary(1)|pancreas(1)|skin(1)	4						CAGACACTAACTAAACAGGTG	0.478																																					p.S331F		Atlas-SNP	.											.	KPNB1	58	.	0			c.C992T						.						79.0	71.0	74.0					17																	45742517		2203	4300	6503	SO:0001583	missense	3837	exon9			CACTAACTAAACA	L39793	CCDS11513.1, CCDS62228.1	17q21.32	2013-02-14			ENSG00000108424	ENSG00000108424		"""Importins"", ""Armadillo repeat containing"""	6400	protein-coding gene	gene with protein product	"""importin 1"""	602738				7615630, 7627554	Standard	NM_002265		Approved	NTF97, IPOB, MGC2155, MGC2156, MGC2157, IMB1, Impnb, IPO1	uc002ilt.2	Q14974	OTTHUMG00000036957	ENST00000290158.4:c.992C>T	chr17.hg19:g.45742517C>T	ENSP00000290158:p.Thr331Ile	64.0	0.0		67.0	4.0	NM_002265	B7ZAV6|D3DTT3|Q14637|Q53XN2|Q96J27	Missense_Mutation	SNP	ENST00000290158.4	hg19	CCDS11513.1	.	.	.	.	.	.	.	.	.	.	C	18.20	3.571751	0.65765	.	.	ENSG00000108424	ENST00000535458;ENST00000290158;ENST00000540627	T;T;T	0.68765	-0.35;-0.35;-0.35	5.76	4.74	0.60224	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.65523	0.2699	M	0.79926	2.475	0.37709	D	0.924496	P	0.48230	0.907	B	0.35971	0.215	T	0.78360	-0.2234	9	0.42905	T	0.14	-7.9905	16.2841	0.82710	0.0:0.8676:0.1324:0.0	.	331	Q14974	IMB1_HUMAN	I	186;331;186	ENSP00000438253:T186I;ENSP00000290158:T331I;ENSP00000438964:T186I	ENSP00000290158:T331I	T	+	2	0	KPNB1	43097516	1.000000	0.71417	0.984000	0.44739	0.981000	0.71138	4.891000	0.63185	2.730000	0.93505	0.591000	0.81541	ACT	.	.		0.478	KPNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089755.2	NM_002265	
OSBPL7	114881	hgsc.bcm.edu	37	17	45894019	45894019	+	Missense_Mutation	SNP	G	G	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr17:45894019G>T	ENST00000007414.3	-	10	1029	c.838C>A	c.(838-840)Ctg>Atg	p.L280M	OSBPL7_ENST00000392507.3_Missense_Mutation_p.L280M	NM_145798.2	NP_665741.1	Q9BZF2	OSBL7_HUMAN	oxysterol binding protein-like 7	280					cellular response to cholesterol (GO:0071397)|lipid transport (GO:0006869)|positive regulation of proteasomal protein catabolic process (GO:1901800)	autophagic vacuole (GO:0005776)|cytosol (GO:0005829)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	cholesterol binding (GO:0015485)			autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						CGAGACTCCAGGTAGCGAGAC	0.647																																					p.L280M		Atlas-SNP	.											.	OSBPL7	65	.	0			c.C838A						.						38.0	41.0	40.0					17																	45894019		2203	4300	6503	SO:0001583	missense	114881	exon10			ACTCCAGGTAGCG	AF392446	CCDS11515.1	17q21	2013-01-10				ENSG00000006025		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16387	protein-coding gene	gene with protein product		606735				14593528, 11735225	Standard	NM_145798		Approved	ORP7, MGC71150	uc002ilx.1	Q9BZF2		ENST00000007414.3:c.838C>A	chr17.hg19:g.45894019G>T	ENSP00000007414:p.Leu280Met	94.0	0.0		63.0	14.0	NM_145798	D3DTT6|Q6PIV6	Missense_Mutation	SNP	ENST00000007414.3	hg19	CCDS11515.1	.	.	.	.	.	.	.	.	.	.	G	11.56	1.675705	0.29783	.	.	ENSG00000006025	ENST00000007414;ENST00000392507	T;T	0.19532	2.14;2.14	5.44	1.16	0.20824	.	0.477084	0.19318	N	0.117209	T	0.25827	0.0629	N	0.19112	0.55	0.35967	D	0.835019	D	0.71674	0.998	D	0.83275	0.996	T	0.14531	-1.0469	10	0.41790	T	0.15	-15.9654	8.4614	0.32929	0.3944:0.0:0.6056:0.0	.	280	Q9BZF2	OSBL7_HUMAN	M	280	ENSP00000007414:L280M;ENSP00000376295:L280M	ENSP00000007414:L280M	L	-	1	2	OSBPL7	43249018	1.000000	0.71417	0.999000	0.59377	0.962000	0.63368	1.464000	0.35288	0.087000	0.17167	-0.137000	0.14449	CTG	.	.		0.647	OSBPL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441367.1	NM_017731	
SNF8	11267	hgsc.bcm.edu	37	17	47022064	47022064	+	Silent	SNP	G	G	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr17:47022064G>T	ENST00000502492.1	-	1	415	c.33C>A	c.(31-33)atC>atA	p.I11I	SNF8_ENST00000290330.3_Silent_p.I11I			Q96H20	SNF8_HUMAN	SNF8, ESCRT-II complex subunit	11					endosomal transport (GO:0016197)|membrane organization (GO:0061024)|protein transport (GO:0015031)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)			breast(1)|endometrium(1)|lung(1)	3						TCTTCTTGGCGATGGCGCCAG	0.711																																					p.I11I		Atlas-SNP	.											.	SNF8	15	.	0			c.C33A						.						101.0	109.0	107.0					17																	47022064		2203	4300	6503	SO:0001819	synonymous_variant	11267	exon1			CTTGGCGATGGCG	AF156102	CCDS11541.1	17q21.32	2013-06-05	2013-06-05		ENSG00000159210	ENSG00000159210			17028	protein-coding gene	gene with protein product		610904	"""SNF8, ESCRT-II complex subunit, homolog (S. cerevisiae)"""			10419521, 15329733	Standard	NM_007241		Approved	EAP30, VPS22, Dot3	uc002ioj.3	Q96H20	OTTHUMG00000160569	ENST00000502492.1:c.33C>A	chr17.hg19:g.47022064G>T		58.0	0.0		41.0	4.0	NM_007241	Q8IXY3|Q9UN50	Silent	SNP	ENST00000502492.1	hg19	CCDS11541.1																																																																																			.	.		0.711	SNF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000361172.1	NM_007241	
TOB1	10140	hgsc.bcm.edu	37	17	48941375	48941375	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr17:48941375G>A	ENST00000268957.3	-	3	432	c.4C>T	c.(4-6)Cag>Tag	p.Q2*	TOB1_ENST00000499247.2_Nonsense_Mutation_p.Q2*|TOB1_ENST00000509385.1_Intron|TOB1-AS1_ENST00000523470.1_RNA|TOB1-AS1_ENST00000416263.3_RNA	NM_001243877.1	NP_001230806.1	P50616	TOB1_HUMAN	transducer of ERBB2, 1	2					negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell proliferation (GO:0008285)|negative regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060212)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of translation (GO:0017148)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of signal transduction (GO:0009967)|SMAD protein import into nucleus (GO:0007184)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	receptor tyrosine kinase binding (GO:0030971)|SH3/SH2 adaptor activity (GO:0005070)|transcription corepressor activity (GO:0003714)			breast(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			ATTTCAAGCTGCATAGCTGCT	0.338																																					p.Q2X	NSCLC(144;643 1919 24513 29423 40686)	Atlas-SNP	.											.	TOB1	40	.	0			c.C4T						.						31.0	32.0	32.0					17																	48941375		2184	4293	6477	SO:0001587	stop_gained	10140	exon2			CAAGCTGCATAGC	D38305	CCDS11576.1	17q21.33	2012-08-14			ENSG00000141232	ENSG00000141232			11979	protein-coding gene	gene with protein product		605523		TROB1		8632892, 17785442	Standard	NM_005749		Approved	TOB, TROB	uc002isw.3	P50616	OTTHUMG00000162277	ENST00000268957.3:c.4C>T	chr17.hg19:g.48941375G>A	ENSP00000268957:p.Gln2*	68.0	0.0		45.0	4.0	NM_005749	B2R9T0|D3DTY3|Q4KMQ0	Nonsense_Mutation	SNP	ENST00000268957.3	hg19	CCDS11576.1	.	.	.	.	.	.	.	.	.	.	G	37	5.991335	0.97179	.	.	ENSG00000141232	ENST00000499247;ENST00000268957	.	.	.	5.76	4.79	0.61399	.	0.054585	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	.	16.1971	0.82040	0.0:0.0:0.8658:0.1342	.	.	.	.	X	2	.	ENSP00000268957:Q2X	Q	-	1	0	TOB1	46296374	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.476000	0.97823	1.405000	0.46838	-0.182000	0.12963	CAG	.	.		0.338	TOB1-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000368364.1		
ERN1	2081	hgsc.bcm.edu	37	17	62132159	62132159	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr17:62132159T>C	ENST00000433197.3	-	14	1797	c.1702A>G	c.(1702-1704)Aaa>Gaa	p.K568E		NM_001433.3	NP_001424.3			endoplasmic reticulum to nucleus signaling 1											central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						AAGGAAATTTTCCCAACTATC	0.488																																					p.K568E		Atlas-SNP	.											ERN1_ENST00000433197,NS,carcinoma,0,2	ERN1	102	.	0			c.A1702G						.						52.0	54.0	53.0					17																	62132159		2009	4174	6183	SO:0001583	missense	2081	exon14			AAATTTTCCCAAC	AF059198	CCDS45762.1	17q23	2011-08-12	2007-08-14			ENSG00000178607			3449	protein-coding gene	gene with protein product	"""inositol-requiring enzyme 1"""	604033	"""ER to nucleus signalling 1"""			9637683	Standard	NM_001433		Approved	IRE1, IRE1P	uc002jdz.2	O75460		ENST00000433197.3:c.1702A>G	chr17.hg19:g.62132159T>C	ENSP00000401445:p.Lys568Glu	72.0	0.0		44.0	3.0	NM_001433		Missense_Mutation	SNP	ENST00000433197.3	hg19	CCDS45762.1	.	.	.	.	.	.	.	.	.	.	T	14.65	2.598332	0.46318	.	.	ENSG00000178607	ENST00000433197	T	0.61040	0.14	4.36	3.28	0.37604	Protein kinase-like domain (1);	0.155618	0.56097	N	0.000027	T	0.35595	0.0937	N	0.08118	0	0.48975	D	0.999731	B	0.15719	0.014	B	0.12837	0.008	T	0.14896	-1.0456	10	0.56958	D	0.05	-17.6224	10.1931	0.43039	0.0:0.0806:0.0:0.9194	.	568	O75460	ERN1_HUMAN	E	568	ENSP00000401445:K568E	ENSP00000401445:K568E	K	-	1	0	ERN1	59485891	1.000000	0.71417	0.923000	0.36655	0.624000	0.37722	7.651000	0.83577	0.784000	0.33661	0.533000	0.62120	AAA	.	.		0.488	ERN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443734.2	NM_001433	
AXIN2	8313	hgsc.bcm.edu	37	17	63534322	63534322	+	Splice_Site	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr17:63534322T>C	ENST00000375702.5	-	4	1307	c.1199A>G	c.(1198-1200)gAg>gGg	p.E400G	CTD-2535L24.2_ENST00000577662.1_3'UTR|AXIN2_ENST00000307078.5_Splice_Site_p.E400G			Q9Y2T1	AXIN2_HUMAN	axin 2	400	Interaction with GSK3B. {ECO:0000250}.				bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to organic cyclic compound (GO:0071407)|chondrocyte differentiation involved in endochondral bone morphogenesis (GO:0003413)|dorsal/ventral axis specification (GO:0009950)|intramembranous ossification (GO:0001957)|maintenance of DNA repeat elements (GO:0043570)|mRNA stabilization (GO:0048255)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell proliferation (GO:0008285)|negative regulation of osteoblast differentiation (GO:0045668)|odontogenesis (GO:0042476)|positive regulation of cell death (GO:0010942)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein phosphorylation (GO:0001934)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of chondrocyte development (GO:0061181)|regulation of mismatch repair (GO:0032423)|secondary heart field specification (GO:0003139)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625)			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						CCGCATTACCTCTCGGATCTG	0.617									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome																												p.E400G		Atlas-SNP	.											.	AXIN2	92	.	0			c.A1199G						.						69.0	56.0	60.0					17																	63534322		2203	4300	6503	SO:0001630	splice_region_variant	8313	exon5	Familial Cancer Database	Oligodontia-Colorectal Cancer syndrome, Tooth Agenesis-Colorectal Cancer Syndrome	ATTACCTCTCGGA	AF078165	CCDS11662.1	17q24.1	2014-09-17	2008-08-01		ENSG00000168646				904	protein-coding gene	gene with protein product	"""conductin"", ""axil"""	604025				10049590	Standard	NM_004655		Approved	MGC126582, DKFZp781B0869	uc002jfi.3	Q9Y2T1	OTTHUMG00000179353	ENST00000375702.5:c.1200+1A>G	chr17.hg19:g.63534322T>C		132.0	0.0		99.0	4.0	NM_004655	Q3MJ88|Q9H3M6|Q9UH84	Missense_Mutation	SNP	ENST00000375702.5	hg19		.	.	.	.	.	.	.	.	.	.	T	12.11	1.838963	0.32513	.	.	ENSG00000168646	ENST00000307078;ENST00000375702	D;D	0.84298	-1.83;-1.83	4.68	4.68	0.58851	.	0.161055	0.53938	D	0.000043	T	0.69557	0.3124	N	0.08118	0	0.51482	D	0.999929	B;B;P	0.39665	0.008;0.228;0.682	B;B;B	0.35550	0.005;0.098;0.205	T	0.71189	-0.4666	10	0.25106	T	0.35	-23.052	14.2791	0.66199	0.0:0.0:0.0:1.0	.	400;400;400	B7ZKL5;Q9Y2T1;E7ES00	.;AXIN2_HUMAN;.	G	400	ENSP00000302625:E400G;ENSP00000364854:E400G	ENSP00000302625:E400G	E	-	2	0	AXIN2	60964784	1.000000	0.71417	1.000000	0.80357	0.773000	0.43773	3.710000	0.54860	1.962000	0.57031	0.454000	0.30748	GAG	.	.		0.617	AXIN2-004	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000445901.1	NM_004655	Missense_Mutation
BPTF	2186	hgsc.bcm.edu	37	17	65850816	65850816	+	Silent	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr17:65850816T>C	ENST00000321892.4	+	2	1435	c.1374T>C	c.(1372-1374)caT>caC	p.H458H	BPTF_ENST00000306378.6_Silent_p.H458H|BPTF_ENST00000335221.5_Silent_p.H458H|BPTF_ENST00000424123.3_Silent_p.H319H			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	458					anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			ATATTCGACATGAACCTATTG	0.388																																					p.H458H		Atlas-SNP	.											.	BPTF	415	.	0			c.T1374C						.						87.0	79.0	81.0					17																	65850816		2203	4300	6503	SO:0001819	synonymous_variant	2186	exon2			TCGACATGAACCT	AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"""Zinc fingers, PHD-type"""	3581	protein-coding gene	gene with protein product		601819	"""fetal Alzheimer antigen"""	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.1374T>C	chr17.hg19:g.65850816T>C		134.0	0.0		94.0	4.0	NM_004459	Q6NX67|Q7Z7D6|Q9UIG2	Silent	SNP	ENST00000321892.4	hg19																																																																																				.	.		0.388	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459	
BPTF	2186	hgsc.bcm.edu	37	17	65942113	65942113	+	Missense_Mutation	SNP	C	C	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr17:65942113C>T	ENST00000321892.4	+	23	7728	c.7667C>T	c.(7666-7668)cCc>cTc	p.P2556L	BPTF_ENST00000306378.6_Missense_Mutation_p.P2430L|BPTF_ENST00000335221.5_Intron|BPTF_ENST00000424123.3_Intron			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	2556					anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			CAGCCACAGCCCCAAGTCATT	0.478																																					p.P2430L		Atlas-SNP	.											.	BPTF	415	.	0			c.C7289T						.						117.0	104.0	108.0					17																	65942113		2203	4300	6503	SO:0001583	missense	2186	exon21			CACAGCCCCAAGT	AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"""Zinc fingers, PHD-type"""	3581	protein-coding gene	gene with protein product		601819	"""fetal Alzheimer antigen"""	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.7667C>T	chr17.hg19:g.65942113C>T	ENSP00000315454:p.Pro2556Leu	198.0	0.0		149.0	31.0	NM_182641	Q6NX67|Q7Z7D6|Q9UIG2	Missense_Mutation	SNP	ENST00000321892.4	hg19		.	.	.	.	.	.	.	.	.	.	C	16.26	3.074271	0.55646	.	.	ENSG00000171634	ENST00000306378;ENST00000321892	T;T	0.63417	-0.04;2.02	6.1	6.1	0.99115	.	.	.	.	.	T	0.54062	0.1835	L	0.34521	1.04	0.80722	D	1	P	0.38078	0.617	B	0.33960	0.173	T	0.52215	-0.8605	9	0.38643	T	0.18	-8.4007	20.7146	0.99709	0.0:1.0:0.0:0.0	.	2430	Q12830-2	.	L	2430;2556	ENSP00000307208:P2430L;ENSP00000315454:P2556L	ENSP00000307208:P2430L	P	+	2	0	BPTF	63372575	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.492000	0.60334	2.902000	0.99343	0.650000	0.86243	CCC	.	.		0.478	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459	
ABCA6	23460	hgsc.bcm.edu	37	17	67111077	67111077	+	Splice_Site	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr17:67111077T>C	ENST00000284425.2	-	13	1782	c.1608A>G	c.(1606-1608)ggA>ggG	p.G536G		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	536	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					TGGTAACTGATCCTAAGAATA	0.294																																					p.G536G		Atlas-SNP	.											.	ABCA6	210	.	0			c.A1608G						.						46.0	45.0	45.0					17																	67111077		2203	4300	6503	SO:0001630	splice_region_variant	23460	exon13			AACTGATCCTAAG	U66680	CCDS11683.1	17q21	2012-03-14			ENSG00000154262	ENSG00000154262		"""ATP binding cassette transporters / subfamily A"""	36	protein-coding gene	gene with protein product		612504				8894702	Standard	NM_080284		Approved	EST155051	uc002jhw.1	Q8N139		ENST00000284425.2:c.1607-1A>G	chr17.hg19:g.67111077T>C		52.0	0.0		46.0	5.0	NM_080284	Q6NSH9|Q8N856|Q8WWZ6	Silent	SNP	ENST00000284425.2	hg19	CCDS11683.1																																																																																			.	.		0.294	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450463.1	NM_080284	Silent
TMEM104	54868	hgsc.bcm.edu	37	17	72784959	72784959	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr17:72784959A>G	ENST00000335464.5	+	4	361	c.199A>G	c.(199-201)Atg>Gtg	p.M67V	TMEM104_ENST00000417024.2_Missense_Mutation_p.M80V|TMEM104_ENST00000582773.1_Missense_Mutation_p.M67V|TMEM104_ENST00000582330.1_Missense_Mutation_p.M67V	NM_017728.3	NP_060198.3	Q8NE00	TM104_HUMAN	transmembrane protein 104	67						integral component of membrane (GO:0016021)				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(1)	19	all_lung(278;0.23)					GATAGAGGCCATGGCTGCAGC	0.602																																					p.M67V		Atlas-SNP	.											.	TMEM104	49	.	0			c.A199G						.						80.0	66.0	71.0					17																	72784959		2203	4300	6503	SO:0001583	missense	54868	exon4			GAGGCCATGGCTG	AK074029	CCDS32723.1	17q25.1	2005-12-19				ENSG00000109066			25984	protein-coding gene	gene with protein product							Standard	NM_017728		Approved	FLJ20255, FLJ00021	uc002jls.4	Q8NE00		ENST00000335464.5:c.199A>G	chr17.hg19:g.72784959A>G	ENSP00000334849:p.Met67Val	48.0	0.0		42.0	4.0	NM_017728	Q8TEU1|Q9NT56|Q9NXH1	Missense_Mutation	SNP	ENST00000335464.5	hg19	CCDS32723.1	.	.	.	.	.	.	.	.	.	.	A	26.2	4.712411	0.89112	.	.	ENSG00000109066	ENST00000335464;ENST00000417024	T;T	0.52754	1.32;0.65	4.55	4.55	0.56014	.	0.000000	0.85682	D	0.000000	T	0.65428	0.2690	M	0.78049	2.395	0.80722	D	1	D;D;D	0.63046	0.962;0.988;0.992	P;P;P	0.60117	0.843;0.793;0.869	T	0.71210	-0.4660	10	0.66056	D	0.02	-41.044	14.2094	0.65755	1.0:0.0:0.0:0.0	.	80;67;67	B4DKL7;Q8NE00-2;Q8NE00	.;.;TM104_HUMAN	V	67;80	ENSP00000334849:M67V;ENSP00000397676:M80V	ENSP00000334849:M67V	M	+	1	0	TMEM104	70296554	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.928000	0.92853	1.816000	0.52996	0.459000	0.35465	ATG	.	.		0.602	TMEM104-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444442.1	NM_017728	
SLC25A19	60386	hgsc.bcm.edu	37	17	73279599	73279599	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr17:73279599A>G	ENST00000402418.3	-	3	1273	c.364T>C	c.(364-366)Ttt>Ctt	p.F122L	SLC25A19_ENST00000580994.1_Missense_Mutation_p.F122L|SLC25A19_ENST00000320362.3_Missense_Mutation_p.F122L|SLC25A19_ENST00000442286.2_Missense_Mutation_p.F122L|SLC25A19_ENST00000375261.4_Intron|SLC25A19_ENST00000416858.2_Missense_Mutation_p.F122L			Q9HC21	TPC_HUMAN	solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19	122					deoxynucleotide transport (GO:0030302)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)	deoxynucleotide transmembrane transporter activity (GO:0030233)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9	all_cancers(13;5.98e-08)|all_epithelial(9;1.16e-08)|Breast(9;3.1e-08)		all cancers(21;6.82e-07)|Epithelial(20;6.86e-06)			CCACATACAAAGTGCACTGAG	0.562																																					p.F122L		Atlas-SNP	.											.	SLC25A19	25	.	0			c.T364C						.						55.0	44.0	48.0					17																	73279599		2203	4300	6503	SO:0001583	missense	60386	exon4			ATACAAAGTGCAC		CCDS11720.1	17q25.1	2013-05-22	2007-03-08		ENSG00000125454	ENSG00000125454		"""Solute carriers"""	14409	protein-coding gene	gene with protein product		606521	"""solute carrier family 25 (mitochondrial deoxynucleotide carrier), member 19"", ""microcephaly, Amish"""	MCPHA		11474176, 11226231, 19798730	Standard	NM_021734		Approved	DNC, MUP1, TPC	uc002jnw.4	Q9HC21		ENST00000402418.3:c.364T>C	chr17.hg19:g.73279599A>G	ENSP00000385312:p.Phe122Leu	105.0	0.0		80.0	4.0	NM_001126122	E9PF74|Q6V9R7	Missense_Mutation	SNP	ENST00000402418.3	hg19	CCDS11720.1	.	.	.	.	.	.	.	.	.	.	A	10.40	1.339462	0.24339	.	.	ENSG00000125454	ENST00000416858;ENST00000442286;ENST00000320362;ENST00000402418	T;T;T;T	0.75821	-0.97;-0.97;-0.97;-0.97	5.2	5.2	0.72013	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	T	0.70413	0.3221	L	0.43554	1.36	0.80722	D	1	D	0.56287	0.975	P	0.50825	0.651	T	0.66232	-0.5975	10	0.14252	T	0.57	-19.8534	10.3055	0.43678	0.9205:0.0:0.0795:0.0	.	122	Q9HC21	TPC_HUMAN	L	122	ENSP00000397818:F122L;ENSP00000402202:F122L;ENSP00000319574:F122L;ENSP00000385312:F122L	ENSP00000319574:F122L	F	-	1	0	SLC25A19	70791194	1.000000	0.71417	0.829000	0.32907	0.032000	0.12392	7.126000	0.77201	1.958000	0.56883	0.448000	0.29417	TTT	.	.		0.562	SLC25A19-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447282.1	NM_021734	
FBF1	85302	hgsc.bcm.edu	37	17	73926112	73926112	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr17:73926112T>C	ENST00000586717.1	-	6	476	c.203A>G	c.(202-204)gAg>gGg	p.E68G	FBF1_ENST00000319129.5_Missense_Mutation_p.E68G|FBF1_ENST00000389570.4_Missense_Mutation_p.E68G			Q8TES7	FBF1_HUMAN	Fas (TNFRSF6) binding factor 1	68					apical junction assembly (GO:0043297)|cilium assembly (GO:0042384)|establishment of epithelial cell polarity (GO:0090162)	cell junction (GO:0030054)|centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|spindle pole (GO:0000922)				large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	4						TGGGTCTGCCTCTGAGATACC	0.522																																					p.E68G		Atlas-SNP	.											.	FBF1	48	.	0			c.A203G						.						28.0	26.0	27.0					17																	73926112		1933	4110	6043	SO:0001583	missense	85302	exon6			TCTGCCTCTGAGA	AK074045	CCDS45779.1	17q25.3	2011-04-21			ENSG00000188878	ENSG00000188878			24674	protein-coding gene	gene with protein product	"""albatross"""					11347906	Standard	NM_001080542		Approved	FLJ00103, FBF-1, KIAA1863, ALB	uc002jqc.3	Q8TES7		ENST00000586717.1:c.203A>G	chr17.hg19:g.73926112T>C	ENSP00000465132:p.Glu68Gly	58.0	0.0		40.0	4.0	NM_001080542	B5MEM5|Q96IF6|Q96JG4|Q96MA8	Missense_Mutation	SNP	ENST00000586717.1	hg19		.	.	.	.	.	.	.	.	.	.	T	14.79	2.641295	0.47153	.	.	ENSG00000188878	ENST00000337792;ENST00000389570;ENST00000319129;ENST00000427433	T;T	0.21191	2.02;2.02	4.97	4.97	0.65823	.	.	.	.	.	T	0.20210	0.0486	L	0.29908	0.895	0.23991	N	0.99624	P;P;P	0.46142	0.763;0.804;0.873	B;B;B	0.42625	0.167;0.393;0.298	T	0.08889	-1.0700	9	0.87932	D	0	-1.8461	14.318	0.66465	0.0:0.0:0.0:1.0	.	82;68;68	Q8TES7-6;Q8TES7;A6NLR5	.;FBF1_HUMAN;.	G	68;68;68;81	ENSP00000374221:E68G;ENSP00000324292:E68G	ENSP00000324292:E68G	E	-	2	0	FBF1	71437707	0.998000	0.40836	0.044000	0.18714	0.571000	0.35966	5.511000	0.67024	1.850000	0.53721	0.533000	0.62120	GAG	.	.		0.522	FBF1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000448945.2	NM_001080542	
EVPL	2125	hgsc.bcm.edu	37	17	74014678	74014678	+	Missense_Mutation	SNP	G	G	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr17:74014678G>T	ENST00000301607.3	-	12	1541	c.1288C>A	c.(1288-1290)Cag>Aag	p.Q430K	EVPL_ENST00000586740.1_Missense_Mutation_p.Q430K	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	430	Globular 1.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						TGCAGCAGCTGCACCTGGGGG	0.672																																					p.Q430K		Atlas-SNP	.											.	EVPL	155	.	0			c.C1288A						.						18.0	21.0	20.0					17																	74014678		2201	4293	6494	SO:0001583	missense	2125	exon12			GCAGCTGCACCTG	U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.1288C>A	chr17.hg19:g.74014678G>T	ENSP00000301607:p.Gln430Lys	199.0	0.0		140.0	41.0	NM_001988	A0AUV5	Missense_Mutation	SNP	ENST00000301607.3	hg19	CCDS11737.1	.	.	.	.	.	.	.	.	.	.	G	14.32	2.498783	0.44455	.	.	ENSG00000167880	ENST00000301607	T	0.75938	-0.98	5.12	5.12	0.69794	.	0.133205	0.53938	D	0.000050	T	0.78553	0.4301	M	0.66939	2.045	0.36532	D	0.870778	P;P	0.52842	0.836;0.956	B;P	0.47528	0.346;0.549	D	0.83484	0.0066	10	0.48119	T	0.1	-45.9129	18.9474	0.92627	0.0:0.0:1.0:0.0	.	430;430	B7ZLH8;Q92817	.;EVPL_HUMAN	K	430	ENSP00000301607:Q430K	ENSP00000301607:Q430K	Q	-	1	0	EVPL	71526273	1.000000	0.71417	1.000000	0.80357	0.686000	0.39977	6.470000	0.73558	2.573000	0.86826	0.561000	0.74099	CAG	.	.		0.672	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1	NM_001988	
MGAT5B	146664	hgsc.bcm.edu	37	17	74898718	74898718	+	Missense_Mutation	SNP	G	G	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr17:74898718G>T	ENST00000569840.2	+	4	985	c.411G>T	c.(409-411)caG>caT	p.Q137H	MGAT5B_ENST00000428789.2_Missense_Mutation_p.Q148H|MGAT5B_ENST00000374998.3_3'UTR|MGAT5B_ENST00000301618.4_Missense_Mutation_p.Q137H	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	137					protein N-linked glycosylation (GO:0006487)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AGGTGGACCAGATCCTGCGCC	0.647																																					p.Q148H		Atlas-SNP	.											.	MGAT5B	98	.	0			c.G444T						.						26.0	22.0	24.0					17																	74898718		2201	4300	6501	SO:0001583	missense	146664	exon3			GGACCAGATCCTG	AB109185	CCDS11751.1, CCDS45788.1, CCDS59299.1	17q25.3	2013-02-25	2005-11-16		ENSG00000167889	ENSG00000167889		"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	24140	protein-coding gene	gene with protein product		612441	"""mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isoenzyme B"""			14617637, 14623122	Standard	NM_001199172		Approved	GnT-IX, FLJ25132, GnT-VB	uc002jth.3	Q3V5L5	OTTHUMG00000177278	ENST00000569840.2:c.411G>T	chr17.hg19:g.74898718G>T	ENSP00000456037:p.Gln137His	207.0	0.0		117.0	23.0	NM_198955	Q6P3S8|Q6P6B3|Q766X5|Q76D04|Q96LS2	Missense_Mutation	SNP	ENST00000569840.2	hg19	CCDS59299.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.049578	0.75846	.	.	ENSG00000167889	ENST00000374998;ENST00000301618;ENST00000428789	T;T	0.52295	0.68;0.67	5.55	3.21	0.36854	.	0.000000	0.85682	D	0.000000	T	0.61388	0.2343	L	0.53249	1.67	0.47737	D	0.999508	D;D	0.76494	0.999;0.999	D;D	0.85130	0.997;0.997	T	0.63866	-0.6540	10	0.59425	D	0.04	-29.5481	12.2441	0.54560	0.1644:0.0:0.8356:0.0	.	148;137	Q3V5L5-2;Q3V5L5-5	.;.	H	137;137;148	ENSP00000301618:Q137H;ENSP00000391227:Q148H	ENSP00000301618:Q137H	Q	+	3	2	MGAT5B	72410313	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.444000	0.73452	1.337000	0.45525	0.655000	0.94253	CAG	.	.		0.647	MGAT5B-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460624.2	NM_144677	
MGAT5B	146664	hgsc.bcm.edu	37	17	74944796	74944796	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr17:74944796A>G	ENST00000569840.2	+	18	2829	c.2255A>G	c.(2254-2256)gAg>gGg	p.E752G	RP11-87G24.3_ENST00000564292.1_RNA|MGAT5B_ENST00000428789.2_Missense_Mutation_p.E761G|MGAT5B_ENST00000301618.4_Missense_Mutation_p.E750G	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	752					protein N-linked glycosylation (GO:0006487)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCTGGCCAGGAGTGCTACCTG	0.667																																					p.E761G		Atlas-SNP	.											.	MGAT5B	98	.	0			c.A2282G						.						44.0	42.0	43.0					17																	74944796		2203	4300	6503	SO:0001583	missense	146664	exon16			GCCAGGAGTGCTA	AB109185	CCDS11751.1, CCDS45788.1, CCDS59299.1	17q25.3	2013-02-25	2005-11-16		ENSG00000167889	ENSG00000167889		"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	24140	protein-coding gene	gene with protein product		612441	"""mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isoenzyme B"""			14617637, 14623122	Standard	NM_001199172		Approved	GnT-IX, FLJ25132, GnT-VB	uc002jth.3	Q3V5L5	OTTHUMG00000177278	ENST00000569840.2:c.2255A>G	chr17.hg19:g.74944796A>G	ENSP00000456037:p.Glu752Gly	147.0	0.0		107.0	5.0	NM_198955	Q6P3S8|Q6P6B3|Q766X5|Q76D04|Q96LS2	Missense_Mutation	SNP	ENST00000569840.2	hg19	CCDS59299.1	.	.	.	.	.	.	.	.	.	.	A	26.3	4.727511	0.89390	.	.	ENSG00000167889	ENST00000301618;ENST00000428789	T;T	0.48522	0.81;0.81	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.62913	0.2467	L	0.59436	1.845	0.80722	D	1	D;D;D	0.89917	1.0;0.998;0.998	D;D;D	0.85130	0.997;0.91;0.91	T	0.59461	-0.7450	10	0.25106	T	0.35	-34.2044	14.1613	0.65448	1.0:0.0:0.0:0.0	.	157;761;750	Q3V5L5-4;Q3V5L5-2;Q3V5L5-5	.;.;.	G	750;761	ENSP00000301618:E750G;ENSP00000391227:E761G	ENSP00000301618:E750G	E	+	2	0	MGAT5B	72456391	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.309000	0.78937	1.942000	0.56320	0.379000	0.24179	GAG	.	.		0.667	MGAT5B-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460624.2	NM_144677	
SEPT9	10801	hgsc.bcm.edu	37	17	75471676	75471676	+	Intron	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr17:75471676T>C	ENST00000427177.1	+	4	847				SEPT9_ENST00000592951.1_Intron|SEPT9_ENST00000591198.1_Intron|RP11-75C10.9_ENST00000591110.1_RNA|SEPT9_ENST00000585930.1_Intron|SEPT9_ENST00000423034.2_Intron|SEPT9_ENST00000590917.1_Intron|SEPT9_ENST00000588690.1_Intron|SEPT9_ENST00000427180.1_Missense_Mutation_p.S26P|SEPT9_ENST00000449803.2_Intron|SEPT9_ENST00000590294.1_Intron|SEPT9_ENST00000591088.1_Intron|SEPT9_ENST00000541152.2_Intron|SEPT9_ENST00000592481.1_Intron|SEPT9_ENST00000427674.2_Intron|SEPT9_ENST00000592420.1_Intron|SEPT9_ENST00000431235.2_Intron|SEPT9_ENST00000329047.8_Intron	NM_001113491.1	NP_001106963.1	Q9UHD8	SEPT9_HUMAN	septin 9						cell cycle (GO:0007049)|cell division (GO:0051301)|GTP catabolic process (GO:0006184)|protein heterooligomerization (GO:0051291)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)|stress fiber (GO:0001725)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)	16			BRCA - Breast invasive adenocarcinoma(99;0.153)			GGGTCTGGATTCAGGGGAGCC	0.642																																					p.S26P		Atlas-SNP	.											.	SEPT9	105	.	0			c.T76C						.						22.0	24.0	24.0					17																	75471676		1567	3582	5149	SO:0001627	intron_variant	10801	exon1			CTGGATTCAGGGG	AB023208	CCDS45790.1, CCDS45791.1, CCDS45792.1, CCDS45793.1, CCDS45794.1, CCDS45795.1, CCDS74166.1	17q25.3	2014-09-17	2005-01-11	2005-01-12	ENSG00000184640	ENSG00000184640		"""Septins"""	7323	protein-coding gene	gene with protein product	"""Ov/Br septin"""	604061	"""MLL septin-like fusion"""	MSF		10339604, 10485469	Standard	NM_006640		Approved	MSF1, KIAA0991, PNUTL4, AF17q25, SeptD1	uc002jts.4	Q9UHD8		ENST00000427177.1:c.722-6550T>C	chr17.hg19:g.75471676T>C		153.0	0.0		81.0	4.0	NM_001113495	A8K2V3|B3KPM0|B4DTL9|B4E0N2|B4E274|B7Z654|Q96QF3|Q96QF4|Q96QF5|Q9HA04|Q9UG40|Q9Y5W4	Missense_Mutation	SNP	ENST00000427177.1	hg19	CCDS45790.1	.	.	.	.	.	.	.	.	.	.	T	10.18	1.278473	0.23307	.	.	ENSG00000184640	ENST00000427180	T	0.52983	0.64	1.48	1.48	0.22813	.	.	.	.	.	T	0.27900	0.0687	.	.	.	0.19775	N	0.999958	P	0.44309	0.832	B	0.29440	0.102	T	0.18209	-1.0344	8	0.87932	D	0	.	6.6406	0.22906	0.0:0.0:0.0:1.0	.	26	Q9UHD8-8	.	P	26	ENSP00000415624:S26P	ENSP00000415624:S26P	S	+	1	0	SEPT9	72983271	0.000000	0.05858	0.002000	0.10522	0.017000	0.09413	-0.192000	0.09587	0.939000	0.37446	0.368000	0.22195	TCA	.	.		0.642	SEPT9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000436304.2	NM_006640	
DNAH17	8632	hgsc.bcm.edu	37	17	76450568	76450568	+	Missense_Mutation	SNP	G	G	T	rs371338775		TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr17:76450568G>T	ENST00000585328.1	-	64	10499	c.10375C>A	c.(10375-10377)Cgc>Agc	p.R3459S	DNAH17_ENST00000389840.5_Missense_Mutation_p.R3450S|DNAH17_ENST00000586052.1_5'UTR	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	3450	AAA 5. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TGTCCCAGGCGGATGGCTTTC	0.577																																					p.R3464S		Atlas-SNP	.											.	DNAH17	347	.	0			c.C10390A						.						114.0	85.0	95.0					17																	76450568		2203	4300	6503	SO:0001583	missense	8632	exon64			CCAGGCGGATGGC	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.10375C>A	chr17.hg19:g.76450568G>T	ENSP00000465516:p.Arg3459Ser	150.0	0.0		101.0	5.0	NM_173628	O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	hg19		.	.	.	.	.	.	.	.	.	.	G	19.32	3.805501	0.70682	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.26067	1.76	5.11	5.11	0.69529	.	0.099873	0.44688	D	0.000427	T	0.31263	0.0791	L	0.40543	1.245	0.33747	D	0.620105	P	0.47604	0.898	P	0.51742	0.678	T	0.34329	-0.9833	10	0.28530	T	0.3	.	13.4947	0.61419	0.0:0.0:0.8437:0.1563	.	3459	E7EUM8	.	S	3459;3450	ENSP00000374490:R3450S	ENSP00000300671:R3459S	R	-	1	0	DNAH17	73962163	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.466000	0.53071	2.343000	0.79666	0.650000	0.86243	CGC	.	.		0.577	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628	
CYTH1	9267	hgsc.bcm.edu	37	17	76695035	76695035	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr17:76695035A>G	ENST00000446868.3	-	8	636	c.566T>C	c.(565-567)cTc>cCc	p.L189P	CYTH1_ENST00000585509.1_Missense_Mutation_p.L130P|RNU6-638P_ENST00000516582.1_RNA|CYTH1_ENST00000589297.1_Missense_Mutation_p.L130P|CYTH1_ENST00000361101.4_Missense_Mutation_p.L189P|CYTH1_ENST00000591455.1_Missense_Mutation_p.L189P|CYTH1_ENST00000589296.1_Intron			Q15438	CYH1_HUMAN	cytohesin 1	189	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				establishment of epithelial cell polarity (GO:0090162)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|lipid binding (GO:0008289)			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	19						GGCAAAGGAGAGGACGTAACA	0.473																																					p.L189P		Atlas-SNP	.											.	CYTH1	36	.	0			c.T566C						.						210.0	204.0	206.0					17																	76695035		2203	4300	6503	SO:0001583	missense	9267	exon8			AAGGAGAGGACGT	M85169	CCDS32754.1, CCDS42392.2	17q25	2014-05-02	2008-08-14	2008-08-14	ENSG00000108669	ENSG00000108669		"""Pleckstrin homology (PH) domain containing"""	9501	protein-coding gene	gene with protein product		182115	"""pleckstrin homology, Sec7 and coiled-coil domains 1"""	PSCD1		1511013, 8449036, 21628335, 20018626	Standard	XM_006722180		Approved	B2-1, D17S811E, cytohesin-1	uc002jvw.3	Q15438	OTTHUMG00000150253	ENST00000446868.3:c.566T>C	chr17.hg19:g.76695035A>G	ENSP00000389095:p.Leu189Pro	220.0	0.0		157.0	7.0	NM_017456	A6NFW7|B7Z1T4|Q9P123|Q9P124	Missense_Mutation	SNP	ENST00000446868.3	hg19		.	.	.	.	.	.	.	.	.	.	A	22.4	4.288528	0.80914	.	.	ENSG00000108669	ENST00000446868;ENST00000361101;ENST00000539525;ENST00000537048;ENST00000262763;ENST00000392453	T;T	0.55234	0.53;0.53	5.24	5.24	0.73138	SEC7-like, alpha orthogonal bundle (1);SEC7-like (4);	0.000000	0.85682	D	0.000000	D	0.85031	0.5604	H	0.99770	4.765	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.91869	0.5506	10	0.87932	D	0	.	15.1351	0.72558	1.0:0.0:0.0:0.0	.	189;189	Q15438;Q15438-2	CYH1_HUMAN;.	P	189;189;130;130;189;26	ENSP00000389095:L189P;ENSP00000354398:L189P	ENSP00000262763:L189P	L	-	2	0	CYTH1	74206630	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.205000	0.95048	1.958000	0.56883	0.482000	0.46254	CTC	.	.		0.473	CYTH1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317099.1	NM_004762	
USP36	57602	hgsc.bcm.edu	37	17	76799931	76799931	+	Silent	SNP	C	C	A	rs577284191	byFrequency	TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr17:76799931C>A	ENST00000542802.3	-	16	2789	c.2346G>T	c.(2344-2346)acG>acT	p.T782T	USP36_ENST00000312010.6_Silent_p.T782T|USP36_ENST00000449938.2_Intron			Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	782					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			GAGGCAGCGCCGTCGAGATGG	0.637																																					p.T782T		Atlas-SNP	.											.	USP36	243	.	0			c.G2346T						.						37.0	41.0	40.0					17																	76799931		2177	4243	6420	SO:0001819	synonymous_variant	57602	exon16			CAGCGCCGTCGAG	AB040886	CCDS32755.1	17q25.3	2008-02-05	2005-08-08			ENSG00000055483		"""Ubiquitin-specific peptidases"""	20062	protein-coding gene	gene with protein product		612543	"""ubiquitin specific protease 36"""			12838346	Standard	NM_025090		Approved	KIAA1453, FLJ12851	uc002jvz.1	Q9P275		ENST00000542802.3:c.2346G>T	chr17.hg19:g.76799931C>A		107.0	0.0		68.0	19.0	NM_025090	Q05C98|Q05DD0|Q6IQ38|Q8NDM8|Q9NVC8	Silent	SNP	ENST00000542802.3	hg19	CCDS32755.1																																																																																			.	.		0.637	USP36-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437472.3	NM_025090	
C1QTNF1	114897	hgsc.bcm.edu	37	17	77043987	77043987	+	Silent	SNP	G	G	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr17:77043987G>A	ENST00000339142.2	+	5	1218	c.663G>A	c.(661-663)ttG>ttA	p.L221L	C1QTNF1_ENST00000583904.1_Silent_p.L221L|C1QTNF1_ENST00000580474.1_Silent_p.L221L|C1QTNF1_ENST00000579760.1_Silent_p.L221L|C1QTNF1_ENST00000392445.2_Silent_p.L221L|C1QTNF1_ENST00000582625.1_3'UTR|C1QTNF1_ENST00000581774.1_Silent_p.L221L|C1QTNF1_ENST00000580454.1_Silent_p.L221L|C1QTNF1_ENST00000578229.1_Silent_p.L139L|C1QTNF1_ENST00000311661.4_Silent_p.L139L|C1QTNF1_ENST00000354124.3_Silent_p.L231L	NM_198593.3	NP_940995.1	Q9BXJ1	C1QT1_HUMAN	C1q and tumor necrosis factor related protein 1	221	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				negative regulation of platelet activation (GO:0010544)|negative regulation of platelet aggregation (GO:0090331)|positive regulation of aldosterone secretion (GO:2000860)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase B signaling (GO:0051897)|protein heterotrimerization (GO:0070208)|protein homooligomerization (GO:0051260)|regulation of glucose metabolic process (GO:0010906)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	collagen binding (GO:0005518)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(2)	14			BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201)			TGGTGATCTTGTTCGCGCAGG	0.592																																					p.L221L		Atlas-SNP	.											.	C1QTNF1	62	.	0			c.G663A						.						160.0	127.0	138.0					17																	77043987		2203	4300	6503	SO:0001819	synonymous_variant	114897	exon4			GATCTTGTTCGCG	AF329840	CCDS11761.1, CCDS11762.1	17q25	2012-07-02			ENSG00000173918	ENSG00000173918			14324	protein-coding gene	gene with protein product	"""G protein coupled receptor interacting protein"""	610365				12409230	Standard	NM_198593		Approved	CTRP1, ZSIG37, GIP, FLJ90694	uc002jwp.4	Q9BXJ1	OTTHUMG00000177533	ENST00000339142.2:c.663G>A	chr17.hg19:g.77043987G>A		155.0	0.0		95.0	4.0	NM_030968	Q6ZMH6|Q96NF2|Q9GZR4	Silent	SNP	ENST00000339142.2	hg19	CCDS11761.1																																																																																			.	.		0.592	C1QTNF1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437388.2	NM_030968	
PYCR1	5831	hgsc.bcm.edu	37	17	79892251	79892251	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr17:79892251A>G	ENST00000329875.8	-	6	812	c.748T>C	c.(748-750)Ttc>Ctc	p.F250L	PYCR1_ENST00000577756.1_Intron|PYCR1_ENST00000402252.2_Missense_Mutation_p.F277L|PYCR1_ENST00000337943.5_Missense_Mutation_p.F250L|PYCR1_ENST00000403172.4_Missense_Mutation_p.F219L|RP11-498C9.13_ENST00000583521.1_RNA	NM_001282280.1|NM_001282281.1|NM_006907.2	NP_001269209.1|NP_001269210.1|NP_008838.2	P32322	P5CR1_HUMAN	pyrroline-5-carboxylate reductase 1	250					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to oxidative stress (GO:0034599)|L-proline biosynthetic process (GO:0055129)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|proline biosynthetic process (GO:0006561)|regulation of mitochondrial membrane potential (GO:0051881)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	identical protein binding (GO:0042802)|pyrroline-5-carboxylate reductase activity (GO:0004735)			endometrium(2)|kidney(1)|lung(1)|prostate(1)	5	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		L-Proline(DB00172)	AGGGAGCGGAAGCCCCCACTC	0.652																																					p.F250L		Atlas-SNP	.											.	PYCR1	44	.	0			c.T748C						.						54.0	47.0	49.0					17																	79892251		2202	4298	6500	SO:0001583	missense	5831	exon6			AGCGGAAGCCCCC		CCDS11794.1, CCDS11795.1, CCDS62365.1, CCDS62366.1	17q25.3	2013-09-23			ENSG00000183010	ENSG00000183010	1.5.1.2		9721	protein-coding gene	gene with protein product		179035				1730675	Standard	XM_005256381		Approved	P5C	uc002kcr.1	P32322	OTTHUMG00000178436	ENST00000329875.8:c.748T>C	chr17.hg19:g.79892251A>G	ENSP00000328858:p.Phe250Leu	127.0	0.0		56.0	4.0	NM_153824	A6NFM2|B4DMU0|Q6FHI4|Q96DI6|Q9HBQ4	Missense_Mutation	SNP	ENST00000329875.8	hg19	CCDS11795.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.01|17.01	3.280060|3.280060	0.59758|0.59758	.|.	.|.	ENSG00000183010|ENSG00000183010	ENST00000337943;ENST00000329875;ENST00000402252;ENST00000405481|ENST00000403172	D;D;D|.	0.82711|.	-1.64;-1.64;-1.64|.	3.47|3.47	3.47|3.47	0.39725|0.39725	6-phosphogluconate dehydrogenase, C-terminal-like (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.46092|0.46092	0.1375|0.1375	N|N	0.26092|0.26092	0.79|0.79	0.58432|0.58432	D|D	0.999996|0.999996	P;D;D;D;D|.	0.89917|.	0.849;0.97;0.97;0.97;1.0|.	B;P;P;P;D|.	0.69307|.	0.318;0.705;0.66;0.66;0.963|.	T|T	0.48103|0.48103	-0.9064|-0.9064	10|6	0.16896|0.66056	T|D	0.51|0.02	.|.	8.7107|8.7107	0.34382|0.34382	0.9041:0.0:0.0959:0.0|0.9041:0.0:0.0959:0.0	.|.	191;277;250;250;250|.	B7Z8T1;B4DMU0;E7D7X9;P32322;A6NFM2|.	.;.;.;P5CR1_HUMAN;.|.	L|P	250;250;277;191|250	ENSP00000336579:F250L;ENSP00000328858:F250L;ENSP00000384949:F277L|.	ENSP00000328858:F250L|ENSP00000385483:L250P	F|L	-|-	1|2	0|0	PYCR1|PYCR1	77485542|77485542	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.906000|0.906000	0.53458|0.53458	7.019000|7.019000	0.76412|0.76412	1.454000|1.454000	0.47793|0.47793	0.459000|0.459000	0.35465|0.35465	TTC|CTT	.	.		0.652	PYCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441953.1		
FASN	2194	hgsc.bcm.edu	37	17	80041462	80041462	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr17:80041462T>C	ENST00000306749.2	-	31	5490	c.5272A>G	c.(5272-5274)Agg>Ggg	p.R1758G	FASN_ENST00000579758.1_5'Flank	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	1758	Enoyl reductase. {ECO:0000250}.				acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	GCCAAGCACCTCACGCTGGCC	0.637																																					p.R1758G	Colon(59;314 1043 11189 28578 32273)	Atlas-SNP	.											.	FASN	154	.	0			c.A5272G						.						37.0	36.0	36.0					17																	80041462		2193	4293	6486	SO:0001583	missense	2194	exon31			AGCACCTCACGCT	U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	3594	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 27X, member 1"""	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.5272A>G	chr17.hg19:g.80041462T>C	ENSP00000304592:p.Arg1758Gly	83.0	0.0		64.0	5.0	NM_004104	Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Missense_Mutation	SNP	ENST00000306749.2	hg19	CCDS11801.1	.	.	.	.	.	.	.	.	.	.	T	17.46	3.394659	0.62066	.	.	ENSG00000169710	ENST00000306749;ENST00000545909	T	0.04551	3.6	4.57	-0.218	0.13142	Alcohol dehydrogenase, C-terminal (1);Polyketide synthase, enoylreductase (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.17831	0.0428	M	0.72894	2.215	0.58432	D	0.999995	D	0.89917	1.0	D	0.97110	1.0	T	0.00071	-1.2132	10	0.72032	D	0.01	-46.6612	14.3605	0.66768	0.0:0.0:0.7353:0.2647	.	1758	P49327	FAS_HUMAN	G	1758;723	ENSP00000304592:R1758G	ENSP00000304592:R1758G	R	-	1	2	FASN	77634751	1.000000	0.71417	0.890000	0.34922	0.625000	0.37756	4.412000	0.59787	-0.306000	0.08818	-0.488000	0.04728	AGG	.	.		0.637	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442369.1	NM_004104	
HEXDC	284004	hgsc.bcm.edu	37	17	80399134	80399134	+	Missense_Mutation	SNP	G	G	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr17:80399134G>T	ENST00000327949.9	+	10	1166	c.1155G>T	c.(1153-1155)gaG>gaT	p.E385D	HEXDC_ENST00000577944.1_Missense_Mutation_p.G388W|HEXDC_ENST00000337014.6_Missense_Mutation_p.R415M			Q8WVB3	HEXDC_HUMAN	hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing	385					carbohydrate metabolic process (GO:0005975)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	beta-N-acetylhexosaminidase activity (GO:0004563)			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			CGCTGCTGGAGGGCAACAGGT	0.677																																					p.R415M		Atlas-SNP	.											.	HEXDC	43	.	0			c.G1244T						.						29.0	31.0	30.0					17																	80399134		2003	4155	6158	SO:0001583	missense	284004	exon10			GCTGGAGGGCAAC	AK074405	CCDS42402.1	17q25.3	2011-12-19			ENSG00000169660	ENSG00000169660			26307	protein-coding gene	gene with protein product						12477932	Standard	NM_173620		Approved	FLJ23825	uc002kev.4	Q8WVB3		ENST00000327949.9:c.1155G>T	chr17.hg19:g.80399134G>T	ENSP00000332634:p.Glu385Asp	208.0	0.0		101.0	5.0	NM_173620	B7UUP6|Q8IYN4|Q8TE81	Missense_Mutation	SNP	ENST00000327949.9	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	3.569|3.569	-0.088046|-0.088046	0.07097|0.07097	.|.	.|.	ENSG00000169660|ENSG00000169660	ENST00000327949|ENST00000337014	T|T	0.33438|0.40756	1.41|1.02	4.58|4.58	-0.822|-0.822	0.10819|0.10819	.|.	.|3.090850	.|0.01037	.|N	.|0.004244	T|T	0.27629|0.27629	0.0679|0.0679	.|.	.|.	.|.	0.21967|0.21967	N|N	0.999442|0.999442	P|B	0.34934|0.33807	0.476|0.426	B|B	0.31547|0.28011	0.132|0.085	T|T	0.23655|0.23655	-1.0182|-1.0182	8|9	0.17832|0.87932	T|D	0.49|0	.|.	1.2809|1.2809	0.02040|0.02040	0.2911:0.1927:0.3743:0.1419|0.2911:0.1927:0.3743:0.1419	.|.	385|415	Q8WVB3|Q8WVB3-2	HEXDC_HUMAN|.	D|M	385|415	ENSP00000332634:E385D|ENSP00000337854:R415M	ENSP00000332634:E385D|ENSP00000337854:R415M	E|R	+|+	3|2	2|0	HEXDC|HEXDC	77992423|77992423	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.074000|0.074000	0.17049|0.17049	0.706000|0.706000	0.25690|0.25690	0.066000|0.066000	0.16515|0.16515	0.563000|0.563000	0.77884|0.77884	GAG|AGG	.	.		0.677	HEXDC-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000443513.1	NM_173620	
FN3K	64122	hgsc.bcm.edu	37	17	80699230	80699230	+	Missense_Mutation	SNP	C	C	A	rs566893191		TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr17:80699230C>A	ENST00000300784.7	+	4	491	c.429C>A	c.(427-429)ttC>ttA	p.F143L		NM_022158.3	NP_071441.1	Q9H479	FN3K_HUMAN	fructosamine 3 kinase	143					epithelial cell differentiation (GO:0030855)|fructoselysine metabolic process (GO:0030393)		fructosamine-3-kinase activity (GO:0030387)			central_nervous_system(1)|kidney(1)|lung(1)|urinary_tract(1)	4	Breast(20;0.000523)|all_neural(118;0.0952)		BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			TGGACAAGTTCGGCTTCCACA	0.547																																					p.F143L	Melanoma(10;391 597 14592 32548 32749)	Atlas-SNP	.											.	FN3K	17	.	0			c.C429A						.						106.0	78.0	87.0					17																	80699230		2203	4300	6503	SO:0001583	missense	64122	exon4			CAAGTTCGGCTTC	AJ404615	CCDS11818.1	17q25	2008-02-05				ENSG00000167363			24822	protein-coding gene	gene with protein product		608425				11522682, 14641062	Standard	NM_022158		Approved		uc010wvs.1	Q9H479		ENST00000300784.7:c.429C>A	chr17.hg19:g.80699230C>A	ENSP00000300784:p.Phe143Leu	114.0	0.0		87.0	4.0	NM_022158		Missense_Mutation	SNP	ENST00000300784.7	hg19	CCDS11818.1	.	.	.	.	.	.	.	.	.	.	C	18.44	3.625028	0.66901	.	.	ENSG00000167363	ENST00000300784;ENST00000457624;ENST00000536165	T	0.61158	0.13	4.1	-3.47	0.04753	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.79684	0.4488	H	0.96861	3.895	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.81590	-0.0863	9	.	.	.	-26.7469	11.3834	0.49771	0.0:0.2443:0.0:0.7557	.	143;98	Q9H479;B3KNR9	FN3K_HUMAN;.	L	143;143;98	ENSP00000300784:F143L	.	F	+	3	2	FN3K	78292519	0.644000	0.27277	0.972000	0.41901	0.638000	0.38207	-0.989000	0.03736	-0.607000	0.05738	0.586000	0.80456	TTC	.	.		0.547	FN3K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439229.1	NM_022158	
SMCHD1	23347	hgsc.bcm.edu	37	18	2726476	2726476	+	Silent	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr18:2726476T>C	ENST00000320876.6	+	22	3065	c.2727T>C	c.(2725-2727)ccT>ccC	p.P909P	RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Silent_p.P909P	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	909					chromosome organization (GO:0051276)|inactivation of X chromosome by DNA methylation (GO:0060821)	Barr body (GO:0001740)	ATP binding (GO:0005524)			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						TTACTCTGCCTGGCTTAAAAG	0.259																																					p.P909P		Atlas-SNP	.											.	SMCHD1	88	.	0			c.T2727C						.						23.0	23.0	23.0					18																	2726476		1746	3924	5670	SO:0001819	synonymous_variant	23347	exon22			TCTGCCTGGCTTA	AB014550	CCDS45822.1	18p11.32	2010-05-12			ENSG00000101596	ENSG00000101596			29090	protein-coding gene	gene with protein product		614982				9734811	Standard	NM_015295		Approved	KIAA0650	uc002klm.4	A6NHR9		ENST00000320876.6:c.2727T>C	chr18.hg19:g.2726476T>C		118.0	0.0		67.0	4.0	NM_015295	O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Silent	SNP	ENST00000320876.6	hg19	CCDS45822.1																																																																																			.	.		0.259	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441082.2		
L3MBTL4	91133	hgsc.bcm.edu	37	18	6138235	6138235	+	Missense_Mutation	SNP	C	C	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr18:6138235C>T	ENST00000284898.6	-	14	1357	c.1157G>A	c.(1156-1158)gGa>gAa	p.G386E	L3MBTL4_ENST00000535782.1_Missense_Mutation_p.G199E|L3MBTL4_ENST00000317931.7_Missense_Mutation_p.G386E|L3MBTL4_ENST00000400105.2_Missense_Mutation_p.G386E|L3MBTL4_ENST00000400104.3_Missense_Mutation_p.G386E	NM_173464.3	NP_775735.2	Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4 (Drosophila)	386					chromatin modification (GO:0016568)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				ATGGCCTATTCCTCGGCACCC	0.443																																					p.G386E	Esophageal Squamous(41;748 902 17366 28959 43175)	Atlas-SNP	.											.	L3MBTL4	87	.	0			c.G1157A						.						73.0	62.0	66.0					18																	6138235		2203	4300	6503	SO:0001583	missense	91133	exon14			CCTATTCCTCGGC	BC039316	CCDS11839.2	18p11.31-p11.23	2013-01-10			ENSG00000154655	ENSG00000154655		"""Sterile alpha motif (SAM) domain containing"""	26677	protein-coding gene	gene with protein product						14702039	Standard	NM_173464		Approved	FLJ35936, HsT1031	uc010dkt.3	Q8NA19	OTTHUMG00000131573	ENST00000284898.6:c.1157G>A	chr18.hg19:g.6138235C>T	ENSP00000284898:p.Gly386Glu	67.0	0.0		66.0	4.0	NM_173464	A8MTL8|Q8IXS3	Missense_Mutation	SNP	ENST00000284898.6	hg19	CCDS11839.2	.	.	.	.	.	.	.	.	.	.	C	20.7	4.035719	0.75617	.	.	ENSG00000154655	ENST00000400105;ENST00000317931;ENST00000284898;ENST00000535782;ENST00000400104	T;T;T;T;T	0.47177	0.85;0.89;0.85;0.93;1.11	4.82	4.82	0.62117	.	0.000000	0.64402	D	0.000004	T	0.71558	0.3354	M	0.86864	2.845	0.45979	D	0.998791	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.77360	-0.2617	10	0.87932	D	0	.	13.4011	0.60883	0.0:1.0:0.0:0.0	.	386;386	Q8NA19;F8W9S8	LMBL4_HUMAN;.	E	386;386;386;199;386	ENSP00000382976:G386E;ENSP00000318543:G386E;ENSP00000284898:G386E;ENSP00000444774:G199E;ENSP00000382975:G386E	ENSP00000284898:G386E	G	-	2	0	L3MBTL4	6128235	0.997000	0.39634	0.998000	0.56505	0.992000	0.81027	3.569000	0.53827	2.242000	0.73789	0.650000	0.86243	GGA	.	.		0.443	L3MBTL4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254448.2	NM_173464	
LAMA1	284217	hgsc.bcm.edu	37	18	6955406	6955406	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr18:6955406A>G	ENST00000389658.3	-	57	8246	c.8153T>C	c.(8152-8154)cTc>cCc	p.L2718P	RP11-781P6.1_ENST00000584722.1_RNA	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2718	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				GTTTTGTGTGAGACCAAACTG	0.512																																					p.L2718P		Atlas-SNP	.											.	LAMA1	458	.	0			c.T8153C						.						94.0	72.0	79.0					18																	6955406		2203	4300	6503	SO:0001583	missense	284217	exon57			TGTGTGAGACCAA	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.8153T>C	chr18.hg19:g.6955406A>G	ENSP00000374309:p.Leu2718Pro	178.0	0.0		142.0	6.0	NM_005559		Missense_Mutation	SNP	ENST00000389658.3	hg19	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	A	15.84	2.951497	0.53186	.	.	ENSG00000101680	ENST00000389658	T	0.70749	-0.51	5.32	5.32	0.75619	Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.000000	0.64402	D	0.000003	D	0.84284	0.5438	M	0.82517	2.595	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.994;0.998	D	0.83992	0.0338	10	0.31617	T	0.26	.	15.2633	0.73640	1.0:0.0:0.0:0.0	.	2718;48	P25391;B3KSD8	LAMA1_HUMAN;.	P	2718	ENSP00000374309:L2718P	ENSP00000374309:L2718P	L	-	2	0	LAMA1	6945406	1.000000	0.71417	0.942000	0.38095	0.231000	0.25187	5.057000	0.64294	2.014000	0.59158	0.460000	0.39030	CTC	.	.		0.512	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559	
SPIRE1	56907	hgsc.bcm.edu	37	18	12535544	12535544	+	Silent	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr18:12535544T>C	ENST00000409402.4	-	4	927	c.660A>G	c.(658-660)gtA>gtG	p.V220V	SPIRE1_ENST00000453447.2_Silent_p.V100V|SPIRE1_ENST00000383356.2_Silent_p.V61V|SPIRE1_ENST00000309836.5_Silent_p.V23V|SPIRE1_ENST00000410092.3_Silent_p.V220V|snoU13_ENST00000459256.1_RNA	NM_001128626.1	NP_001122098.1			spire-type actin nucleation factor 1											breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)	28						GTGCACGACATACTGCCTGAT	0.393																																					p.V220V		Atlas-SNP	.											.	SPIRE1	120	.	0			c.A660G						.						177.0	162.0	167.0					18																	12535544		2203	4300	6503	SO:0001819	synonymous_variant	56907	exon4			ACGACATACTGCC	AL833817	CCDS32790.2, CCDS45829.1, CCDS45830.1	18p11.21	2013-08-27	2013-08-27		ENSG00000134278	ENSG00000134278			30622	protein-coding gene	gene with protein product		609216	"""spire homolog 1 (Drosophila)"", ""spire family actin nucleation factor 1"""			10574461, 11747823	Standard	NM_001128626		Approved	spir-1, KIAA1135	uc002kre.3	Q08AE8	OTTHUMG00000153940	ENST00000409402.4:c.660A>G	chr18.hg19:g.12535544T>C		183.0	0.0		94.0	4.0	NM_020148		Silent	SNP	ENST00000409402.4	hg19	CCDS45829.1																																																																																			.	.		0.393	SPIRE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333109.2	XM_290818	
CABLES1	91768	hgsc.bcm.edu	37	18	20774473	20774473	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr18:20774473A>G	ENST00000256925.7	+	3	979	c.979A>G	c.(979-981)Aac>Gac	p.N327D	CABLES1_ENST00000420687.2_Missense_Mutation_p.N62D|CABLES1_ENST00000585061.1_Intron|CABLES1_ENST00000400473.2_5'UTR	NM_001100619.2	NP_001094089.1	Q8TDN4	CABL1_HUMAN	Cdk5 and Abl enzyme substrate 1	327	Interacts with CDK3. {ECO:0000250}.				blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cell division (GO:0051301)|nervous system development (GO:0007399)|regulation of cell cycle (GO:0051726)|regulation of cell division (GO:0051302)	cytosol (GO:0005829)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)			breast(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)	11	all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127)					TTTTATCAAGAACATGCGGCA	0.463																																					p.N327D		Atlas-SNP	.											.	CABLES1	32	.	0			c.A979G						.						81.0	76.0	77.0					18																	20774473		1905	4132	6037	SO:0001583	missense	91768	exon3			ATCAAGAACATGC	BC037218	CCDS42417.1, CCDS42418.1, CCDS58615.1	18q11.2	2005-08-16				ENSG00000134508			25097	protein-coding gene	gene with protein product		609194				12477932	Standard	NM_138375		Approved	HsT2563, FLJ35924	uc002kuc.2	Q8TDN4		ENST00000256925.7:c.979A>G	chr18.hg19:g.20774473A>G	ENSP00000256925:p.Asn327Asp	146.0	0.0		94.0	4.0	NM_001100619	B4DK60|Q8N3Y8|Q8NA22|Q9BTG1	Missense_Mutation	SNP	ENST00000256925.7	hg19	CCDS42417.1	.	.	.	.	.	.	.	.	.	.	A	19.45	3.829565	0.71258	.	.	ENSG00000134508	ENST00000256925;ENST00000420687	T;T	0.47869	0.83;0.89	5.77	5.77	0.91146	.	0.042490	0.85682	D	0.000000	T	0.58337	0.2115	M	0.68317	2.08	0.58432	D	0.999995	P;D	0.67145	0.461;0.996	B;P	0.52343	0.164;0.696	T	0.57940	-0.7724	10	0.34782	T	0.22	-21.7396	16.1024	0.81184	1.0:0.0:0.0:0.0	.	62;327	Q8TDN4-2;Q8TDN4	.;CABL1_HUMAN	D	327;62	ENSP00000256925:N327D;ENSP00000413851:N62D	ENSP00000256925:N327D	N	+	1	0	CABLES1	19028471	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.924000	0.92827	2.200000	0.70718	0.459000	0.35465	AAC	.	.		0.463	CABLES1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445198.2	NM_138375	
ANKRD29	147463	hgsc.bcm.edu	37	18	21218861	21218861	+	Silent	SNP	G	G	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr18:21218861G>T	ENST00000592179.1	-	4	436	c.282C>A	c.(280-282)gtC>gtA	p.V94V	ANKRD29_ENST00000322980.9_Silent_p.V94V|ANKRD29_ENST00000284207.7_Silent_p.V94V	NM_173505.2	NP_775776.2	Q8N6D5	ANR29_HUMAN	ankyrin repeat domain 29	94										breast(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)	13	all_cancers(21;5.07e-05)|all_epithelial(16;2.49e-07)|Lung NSC(20;0.00211)|all_lung(20;0.00676)|Colorectal(14;0.0202)|Ovarian(20;0.127)					GAAATCTCACGACATCATTAT	0.413																																					p.V94V		Atlas-SNP	.											.	ANKRD29	24	.	0			c.C282A						.						111.0	106.0	108.0					18																	21218861		2203	4300	6503	SO:0001819	synonymous_variant	147463	exon4			TCTCACGACATCA	AK057782	CCDS11879.1	18q11.2	2013-01-10			ENSG00000154065	ENSG00000154065		"""Ankyrin repeat domain containing"""	27110	protein-coding gene	gene with protein product							Standard	NM_173505		Approved	FLJ25053	uc002kun.3	Q8N6D5	OTTHUMG00000131875	ENST00000592179.1:c.282C>A	chr18.hg19:g.21218861G>T		145.0	0.0		98.0	4.0	NM_173505	B2R972|Q6ZWE8|Q96LU9	Silent	SNP	ENST00000592179.1	hg19	CCDS11879.1																																																																																			.	.		0.413	ANKRD29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254825.1	NM_173505	
LAMA3	3909	hgsc.bcm.edu	37	18	21451567	21451567	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr18:21451567T>C	ENST00000313654.9	+	38	5181	c.4940T>C	c.(4939-4941)aTa>aCa	p.I1647T	LAMA3_ENST00000399516.3_Missense_Mutation_p.I1647T|LAMA3_ENST00000269217.6_5'Flank|LAMA3_ENST00000587184.1_5'Flank	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1647	Laminin IV type A. {ECO:0000255|PROSITE- ProRule:PRU00458}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					AGTGGGCGCATAGCACTTGCT	0.572																																					p.I1647T		Atlas-SNP	.											.	LAMA3	397	.	0			c.T4940C						.						63.0	73.0	70.0					18																	21451567		2068	4206	6274	SO:0001583	missense	3909	exon38			GGCGCATAGCACT	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.4940T>C	chr18.hg19:g.21451567T>C	ENSP00000324532:p.Ile1647Thr	144.0	0.0		99.0	4.0	NM_001127717	B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	hg19	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	T	0.649	-0.810335	0.02798	.	.	ENSG00000053747	ENST00000313654;ENST00000399516	T;T	0.33865	1.39;1.39	5.21	-0.868	0.10652	Laminin B type IV (2);Growth factor, receptor (1);	.	.	.	.	T	0.17238	0.0414	N	0.17312	0.475	0.09310	N	0.999999	B;B	0.30563	0.285;0.285	B;B	0.28916	0.062;0.096	T	0.23511	-1.0186	9	0.22706	T	0.39	.	3.8927	0.09125	0.0866:0.1534:0.4506:0.3093	.	1647;1647	Q6VU67;Q16787	.;LAMA3_HUMAN	T	1647	ENSP00000324532:I1647T;ENSP00000382432:I1647T	ENSP00000324532:I1647T	I	+	2	0	LAMA3	19705565	0.000000	0.05858	0.001000	0.08648	0.030000	0.12068	0.238000	0.18004	-0.030000	0.13804	-0.256000	0.11100	ATA	.	.		0.572	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129	
PSMA8	143471	hgsc.bcm.edu	37	18	23713973	23713973	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr18:23713973A>G	ENST00000308268.6	+	1	133	c.44A>G	c.(43-45)gAc>gGc	p.D15G	PSMA8_ENST00000415576.2_Missense_Mutation_p.D15G|PSMA8_ENST00000343848.6_Missense_Mutation_p.D15G	NM_001025096.1|NM_144662.2	NP_001020267.1|NP_653263.2	Q8TAA3	PSA7L_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 8	15					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|proteasome core complex, alpha-subunit complex (GO:0019773)|spermatoproteasome complex (GO:1990111)	threonine-type endopeptidase activity (GO:0004298)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|skin(2)	16	all_cancers(21;0.000585)|Lung NSC(5;0.00148)|all_lung(6;0.0038)|Ovarian(20;0.124)		OV - Ovarian serous cystadenocarcinoma(3;0.000324)|all cancers(3;0.000954)|LUSC - Lung squamous cell carcinoma(2;0.181)			TTCTCCCCAGACGGACACCTT	0.562																																					p.D15G		Atlas-SNP	.											.	PSMA8	36	.	0			c.A44G						.						122.0	110.0	114.0					18																	23713973		2203	4300	6503	SO:0001583	missense	143471	exon1			CCCCAGACGGACA	BC047355	CCDS32808.1, CCDS45842.1, CCDS45843.1	18q11.2	2006-12-18				ENSG00000154611		"""Proteasome (prosome, macropain) subunits"""	22985	protein-coding gene	gene with protein product							Standard	XM_005258199		Approved	MGC26605, PSMA7L	uc002kvq.3	Q8TAA3		ENST00000308268.6:c.44A>G	chr18.hg19:g.23713973A>G	ENSP00000311121:p.Asp15Gly	200.0	0.0		122.0	5.0	NM_001025096	B0YJ75|Q8IVP4|Q8TA98|Q8TAA2	Missense_Mutation	SNP	ENST00000308268.6	hg19	CCDS32808.1	.	.	.	.	.	.	.	.	.	.	A	14.46	2.542708	0.45280	.	.	ENSG00000154611	ENST00000308268;ENST00000415576;ENST00000343848;ENST00000536423	T;T;T	0.50277	0.75;0.75;0.75	5.08	5.08	0.68730	Proteasome, alpha-subunit, conserved site (3);	0.000000	0.85682	D	0.000000	T	0.75079	0.3801	H	0.97732	4.065	0.80722	D	1	B;B;B	0.31026	0.304;0.259;0.245	P;B;B	0.47915	0.561;0.425;0.222	T	0.80471	-0.1368	10	0.87932	D	0	-17.7597	12.8545	0.57878	1.0:0.0:0.0:0.0	.	15;15;15	Q8TAA3;Q8TAA3-5;Q8TAA3-2	PSA7L_HUMAN;.;.	G	15	ENSP00000311121:D15G;ENSP00000409284:D15G;ENSP00000345584:D15G	ENSP00000311121:D15G	D	+	2	0	PSMA8	21967971	1.000000	0.71417	0.423000	0.26634	0.990000	0.78478	8.097000	0.89539	2.131000	0.65755	0.533000	0.62120	GAC	.	.		0.562	PSMA8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000446255.1	NM_144662	
DSG4	147409	hgsc.bcm.edu	37	18	28968861	28968861	+	Missense_Mutation	SNP	C	C	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr18:28968861C>T	ENST00000308128.4	+	5	532	c.397C>T	c.(397-399)Cgg>Tgg	p.R133W	RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|DSG4_ENST00000359747.4_Missense_Mutation_p.R133W	NM_177986.3	NP_817123.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	133	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.		Missing (in HYPT6). {ECO:0000269|PubMed:12705872, ECO:0000269|PubMed:15191570}.		anagen (GO:0042640)|BMP signaling pathway (GO:0030509)|homophilic cell adhesion (GO:0007156)|keratinocyte differentiation (GO:0030216)|single organismal cell-cell adhesion (GO:0016337)	desmosome (GO:0030057)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TCTGAATTCACGGGGTGAAGA	0.383																																					p.R133W		Atlas-SNP	.											.	DSG4	343	.	0			c.C397T						.						100.0	106.0	104.0					18																	28968861		2203	4299	6502	SO:0001583	missense	147409	exon5			AATTCACGGGGTG	AY177664, AY168788	CCDS11897.1, CCDS45845.1	18q12.1	2010-01-26			ENSG00000175065	ENSG00000175065		"""Cadherins / Major cadherins"""	21307	protein-coding gene	gene with protein product		607892				12648213	Standard	NM_001134453		Approved	CDHF13, LAH	uc002kwq.2	Q86SJ6	OTTHUMG00000131979	ENST00000308128.4:c.397C>T	chr18.hg19:g.28968861C>T	ENSP00000311859:p.Arg133Trp	160.0	0.0		117.0	5.0	NM_001134453	A2RUI1|Q6Y9L9|Q8IXV4	Missense_Mutation	SNP	ENST00000308128.4	hg19	CCDS11897.1	.	.	.	.	.	.	.	.	.	.	C	17.64	3.439580	0.63067	.	.	ENSG00000175065	ENST00000308128;ENST00000359747	T;T	0.61274	0.12;0.12	6.11	0.799	0.18667	Cadherin (4);Cadherin-like (1);	0.000000	0.31438	N	0.007654	T	0.56934	0.2019	N	0.16266	0.395	0.28224	N	0.926408	D;B	0.89917	1.0;0.244	D;B	0.74023	0.982;0.098	T	0.56577	-0.7956	10	0.51188	T	0.08	.	12.0318	0.53401	0.6393:0.2499:0.1108:0.0	.	133;133	Q86SJ6-2;Q86SJ6	.;DSG4_HUMAN	W	133	ENSP00000311859:R133W;ENSP00000352785:R133W	ENSP00000311859:R133W	R	+	1	2	DSG4	27222859	0.079000	0.21365	0.982000	0.44146	0.932000	0.56968	-0.211000	0.09332	0.109000	0.17891	-0.262000	0.10625	CGG	.	.		0.383	DSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254941.1	NM_177986	
B4GALT6	9331	hgsc.bcm.edu	37	18	29207086	29207086	+	Splice_Site	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr18:29207086T>C	ENST00000306851.5	-	7	1073		c.e7-2		B4GALT6_ENST00000237019.7_Splice_Site|B4GALT6_ENST00000383131.3_Splice_Site	NM_004775.3	NP_004766.2	Q9UBX8	B4GT6_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 6						carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)|metal ion binding (GO:0046872)	p.?(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(6)|pancreas(1)	20			OV - Ovarian serous cystadenocarcinoma(10;0.00791)			TATGGAAGACTAGAAAAGAAA	0.353																																					.		Atlas-SNP	.											B4GALT6,NS,carcinoma,0,1	B4GALT6	44	.	1	Unknown(1)	kidney(1)	c.777-2A>G						.						46.0	46.0	46.0					18																	29207086		2203	4300	6503	SO:0001630	splice_region_variant	9331	exon8			GAAGACTAGAAAA	AF038664	CCDS11900.1	18q11	2013-02-19			ENSG00000118276	ENSG00000118276		"""Beta 4-glycosyltransferases"""	929	protein-coding gene	gene with protein product	"""UDP-Gal:glucosylceramide beta-1,4-galactosyltransferase"""	604017				9597550, 12180132	Standard	NM_004775		Approved	beta4GalT-VI	uc002kwz.4	Q9UBX8	OTTHUMG00000131980	ENST00000306851.5:c.777-2A>G	chr18.hg19:g.29207086T>C		83.0	1.0		50.0	4.0	NM_004775	O60514|Q6NT09	Splice_Site	SNP	ENST00000306851.5	hg19	CCDS11900.1	.	.	.	.	.	.	.	.	.	.	T	19.67	3.871803	0.72180	.	.	ENSG00000118276	ENST00000306851;ENST00000237019;ENST00000383131	.	.	.	5.74	5.74	0.90152	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7112	0.77629	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	B4GALT6	27461084	1.000000	0.71417	0.923000	0.36655	0.793000	0.44817	8.040000	0.89188	2.190000	0.69967	0.528000	0.53228	.	.	.		0.353	B4GALT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254942.2	NM_004775	Intron
MEP1B	4225	hgsc.bcm.edu	37	18	29800206	29800206	+	Nonstop_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr18:29800206T>C	ENST00000269202.6	+	15	2151	c.2104T>C	c.(2104-2106)Tga>Cga	p.*702R	MEP1B_ENST00000581447.1_Nonstop_Mutation_p.*701R	NM_005925.2	NP_005916.2	Q16820	MEP1B_HUMAN	meprin A, beta	0					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						GCATGCTTTTTGAAGATTAAC	0.299																																					p.X702R		Atlas-SNP	.											.	MEP1B	54	.	0			c.T2104C						.						76.0	66.0	69.0					18																	29800206		1815	4079	5894	SO:0001578	stop_lost	4225	exon15			GCTTTTTGAAGAT	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.2104T>C	chr18.hg19:g.29800206T>C	ENSP00000269202:p.*702Argext*32	122.0	0.0		86.0	4.0	NM_005925	B7ZM35|B9EGL6|Q670J1	Missense_Mutation	SNP	ENST00000269202.6	hg19	CCDS45846.1	.	.	.	.	.	.	.	.	.	.	T	14.52	2.560962	0.45590	.	.	ENSG00000141434	ENST00000269202	.	.	.	5.74	5.74	0.90152	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.4093	0.55457	0.0:0.0:0.0:1.0	.	.	.	.	R	702	.	.	X	+	1	0	MEP1B	28054204	1.000000	0.71417	1.000000	0.80357	0.698000	0.40448	3.550000	0.53691	2.183000	0.69458	0.533000	0.62120	TGA	.	.		0.299	MEP1B-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447755.1	NM_005925	
NOL4	8715	hgsc.bcm.edu	37	18	31673528	31673528	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr18:31673528T>C	ENST00000261592.5	-	5	970	c.673A>G	c.(673-675)Atg>Gtg	p.M225V	NOL4_ENST00000269185.4_Missense_Mutation_p.M111V|NOL4_ENST00000535475.1_Missense_Mutation_p.M70V|NOL4_ENST00000589544.1_Missense_Mutation_p.M225V|NOL4_ENST00000538587.1_Missense_Mutation_p.M151V	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	225						nucleolus (GO:0005730)	RNA binding (GO:0003723)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						GAATCACTCATGTCAAATTCA	0.338																																					p.M225V		Atlas-SNP	.											.	NOL4	139	.	0			c.A673G						.						99.0	93.0	95.0					18																	31673528		2203	4300	6503	SO:0001583	missense	8715	exon5			CACTCATGTCAAA	AB017800	CCDS11907.2, CCDS56058.1, CCDS56059.1, CCDS59308.1	18q12	2010-05-04			ENSG00000101746	ENSG00000101746			7870	protein-coding gene	gene with protein product	"""cancer/testis antigen 125"""	603577				9813152	Standard	NM_003787		Approved	NOLP, HRIHFB2255, CT125	uc010dmi.3	O94818	OTTHUMG00000132291	ENST00000261592.5:c.673A>G	chr18.hg19:g.31673528T>C	ENSP00000261592:p.Met225Val	103.0	0.0		72.0	4.0	NM_003787	B4DSQ0|B7Z3Z7|F5H1E3|Q6IBS2|Q9BWF1	Missense_Mutation	SNP	ENST00000261592.5	hg19	CCDS11907.2	.	.	.	.	.	.	.	.	.	.	T	14.64	2.596418	0.46318	.	.	ENSG00000101746	ENST00000261592;ENST00000269185;ENST00000535475;ENST00000538587	.	.	.	5.5	5.5	0.81552	.	0.000000	0.64402	D	0.000001	T	0.67382	0.2887	L	0.58101	1.795	0.43444	D	0.995628	D;B;B;B;B	0.63046	0.992;0.007;0.007;0.452;0.007	P;B;B;P;B	0.59012	0.85;0.01;0.015;0.455;0.01	T	0.64360	-0.6426	9	0.25106	T	0.35	-13.2683	14.7793	0.69754	0.0:0.0:0.0:1.0	.	111;151;225;225;70	B4DLW2;B4DSQ0;O94818;O94818-2;B3KRF4	.;.;NOL4_HUMAN;.;.	V	225;111;70;151	.	ENSP00000261592:M225V	M	-	1	0	NOL4	29927526	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.418000	0.59828	2.088000	0.63022	0.402000	0.26972	ATG	.	.		0.338	NOL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255386.1	NM_003787	
SIGLEC15	284266	hgsc.bcm.edu	37	18	43417043	43417043	+	Silent	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr18:43417043A>G	ENST00000389474.3	+	2	319	c.102A>G	c.(100-102)acA>acG	p.T34T	SIGLEC15_ENST00000587418.1_5'Flank|SIGLEC15_ENST00000546268.1_5'UTR|SIGLEC15_ENST00000602118.2_3'UTR	NM_213602.2	NP_998767.1	Q6ZMC9	SIG15_HUMAN	sialic acid binding Ig-like lectin 15	34					cellular response to lipoprotein particle stimulus (GO:0071402)|innate immune response (GO:0045087)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of bone resorption (GO:0045124)|regulation of osteoclast development (GO:2001204)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|protein complex (GO:0043234)				endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4						tgctcaacacagaggtgcaca	0.438																																					p.T34T		Atlas-SNP	.											.	SIGLEC15	10	.	0			c.A102G						.						98.0	98.0	98.0					18																	43417043		2203	4300	6503	SO:0001819	synonymous_variant	284266	exon2			CAACACAGAGGTG	AK095432	CCDS32819.1	18q21.1	2014-01-28	2007-05-31	2007-05-31	ENSG00000197046	ENSG00000197046		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	27596	protein-coding gene	gene with protein product			"""CD33 antigen-like 3"", ""CD33 molecule-like 3"""	CD33L3		17483134	Standard	NM_213602		Approved	HsT1361	uc002lbl.1	Q6ZMC9		ENST00000389474.3:c.102A>G	chr18.hg19:g.43417043A>G		77.0	0.0		71.0	4.0	NM_213602	A8K2Y5|B4DVQ9	Silent	SNP	ENST00000389474.3	hg19	CCDS32819.1																																																																																			.	.		0.438	SIGLEC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410768.2	NM_213602	
EPG5	57724	hgsc.bcm.edu	37	18	43528527	43528527	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr18:43528527T>C	ENST00000282041.5	-	6	1547	c.1513A>G	c.(1513-1515)Aac>Gac	p.N505D		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	505					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						CCTGATGGGTTATGCAACACT	0.393																																					p.N505D		Atlas-SNP	.											.	EPG5	199	.	0			c.A1513G						.						78.0	71.0	73.0					18																	43528527		1828	4103	5931	SO:0001583	missense	57724	exon6			ATGGGTTATGCAA	AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"""KIAA1632"""	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.1513A>G	chr18.hg19:g.43528527T>C	ENSP00000282041:p.Asn505Asp	75.0	0.0		46.0	10.0	NM_020964	A2BDF3|Q9H8C8	Missense_Mutation	SNP	ENST00000282041.5	hg19	CCDS11926.2	.	.	.	.	.	.	.	.	.	.	T	17.76	3.469695	0.63625	.	.	ENSG00000152223	ENST00000282041	T	0.80653	-1.4	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.81088	0.4750	L	0.47716	1.5	0.45621	D	0.998559	P;P	0.52316	0.952;0.873	P;B	0.49085	0.6;0.385	T	0.83339	-0.0009	10	0.66056	D	0.02	-17.2537	15.4578	0.75330	0.0:0.0:0.0:1.0	.	505;505	Q9HCE0-2;Q9HCE0	.;EPG5_HUMAN	D	505	ENSP00000282041:N505D	ENSP00000282041:N505D	N	-	1	0	EPG5	41782525	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	5.934000	0.70138	2.053000	0.61076	0.460000	0.39030	AAC	.	.		0.393	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1	NM_020964	
C18orf25	147339	hgsc.bcm.edu	37	18	43795775	43795775	+	Splice_Site	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr18:43795775A>G	ENST00000282059.6	+	2	304		c.e2-1		C18orf25_ENST00000321319.6_Splice_Site	NM_145055.3	NP_659492	Q96B23	CR025_HUMAN	chromosome 18 open reading frame 25											central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	11						GTTTTTGTACAGGTTGCTTTC	0.378																																					.		Atlas-SNP	.											.	C18orf25	27	.	0			.						.																																			SO:0001630	splice_region_variant	147339	.			TTGTACAGGTTGC	AL713661	CCDS42430.1, CCDS42431.1	18q21.1	2014-01-03			ENSG00000152242	ENSG00000152242			28172	protein-coding gene	gene with protein product	"""ARKadia-like 1"""					15722956	Standard	NM_001008239		Approved	MGC12909, ARKL1, RNF111L1	uc002lbw.3	Q96B23		ENST00000282059.6:c.-70-1A>G	chr18.hg19:g.43795775A>G		70.0	0.0		48.0	4.0	.	A8K123|A8KAB6|Q5XG78|Q6N058|Q86TB5|Q8TCQ5	Splice_Site	SNP	ENST00000282059.6	hg19	CCDS42430.1																																																																																			.	.		0.378	C18orf25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445242.1	NM_145055	Intron
LOXHD1	125336	hgsc.bcm.edu	37	18	44181373	44181373	+	Missense_Mutation	SNP	G	G	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr18:44181373G>T	ENST00000398722.4	-	1	106	c.107C>A	c.(106-108)tCc>tAc	p.S36Y	LOXHD1_ENST00000441551.2_Missense_Mutation_p.S314Y|LOXHD1_ENST00000536736.1_Missense_Mutation_p.S314Y			Q8IVV2	LOXH1_HUMAN	lipoxygenase homology domains 1	36	PLAT 1. {ECO:0000255|PROSITE- ProRule:PRU00152}.				calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|sensory perception of sound (GO:0007605)	membrane (GO:0016020)|stereocilium (GO:0032420)	calcium channel activity (GO:0005262)			NS(3)|autonomic_ganglia(1)|breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(2)|pancreas(1)|prostate(4)|skin(4)|stomach(1)	36						GTAGATTTTGGATTTGGTACC	0.512																																					p.S314Y		Atlas-SNP	.											LOXHD1_ENST00000398722,scalp,malignant_melanoma,0,2	LOXHD1	367	.	0			c.C941A						.						91.0	75.0	80.0					18																	44181373		692	1591	2283	SO:0001583	missense	125336	exon8			ATTTTGGATTTGG	AK057232	CCDS45861.1, CCDS45862.1, CCDS54184.1	18q21.1	2009-09-11			ENSG00000167210	ENSG00000167210			26521	protein-coding gene	gene with protein product		613072	"""deafness, autosomal recessive 77"""	DFNB77		19732867	Standard	NM_144612		Approved	FLJ32670, LH2D1	uc010xcw.1	Q8IVV2	OTTHUMG00000132644	ENST00000398722.4:c.107C>A	chr18.hg19:g.44181373G>T	ENSP00000381707:p.Ser36Tyr	73.0	1.0		51.0	3.0	NM_144612	B7WNN3|B7WNT1|B7WPI9|Q6ZRY7|Q86WW9|Q96DL7	Missense_Mutation	SNP	ENST00000398722.4	hg19		.	.	.	.	.	.	.	.	.	.	G	15.47	2.843588	0.51057	.	.	ENSG00000167210	ENST00000398722;ENST00000536736;ENST00000335730	T;T	0.25085	1.82;1.82	5.56	5.56	0.83823	.	0.060589	0.64402	D	0.000002	T	0.60663	0.2286	M	0.88512	2.96	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.67803	-0.5576	10	0.87932	D	0	.	19.5188	0.95177	0.0:0.0:1.0:0.0	.	314;36	F5GZB4;Q8IVV2-2	.;.	Y	36;314;36	ENSP00000381707:S36Y;ENSP00000444586:S314Y	ENSP00000338222:S36Y	S	-	2	0	LOXHD1	42435371	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.762000	0.98944	2.622000	0.88805	0.561000	0.74099	TCC	.	.		0.512	LOXHD1-201	KNOWN	basic	protein_coding	protein_coding		NM_144612	
MBD2	8932	hgsc.bcm.edu	37	18	51690975	51690975	+	Missense_Mutation	SNP	C	C	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr18:51690975C>T	ENST00000256429.3	-	5	1255	c.1027G>A	c.(1027-1029)Gct>Act	p.A343T		NM_003927.4	NP_003918.1	Q9UBB5	MBD2_HUMAN	methyl-CpG binding domain protein 2	343					ATP-dependent chromatin remodeling (GO:0043044)|cellular protein complex assembly (GO:0043623)|maternal behavior (GO:0042711)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|histone deacetylase complex (GO:0000118)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	C2H2 zinc finger domain binding (GO:0070742)|chromatin binding (GO:0003682)|methyl-CpG binding (GO:0008327)|mRNA binding (GO:0003729)|protein domain specific binding (GO:0019904)|satellite DNA binding (GO:0003696)|siRNA binding (GO:0035197)			breast(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8				Colorectal(16;0.0212)|READ - Rectum adenocarcinoma(32;0.188)		TTTTCCACAGCAGCGGAGACT	0.478																																					p.A343T		Atlas-SNP	.											.	MBD2	28	.	0			c.G1027A						.						125.0	112.0	116.0					18																	51690975		2203	4300	6503	SO:0001583	missense	8932	exon5			CCACAGCAGCGGA	AF072242	CCDS11953.1, CCDS45871.1	18q21	2008-08-01			ENSG00000134046	ENSG00000134046			6917	protein-coding gene	gene with protein product		603547				9774669, 10441743	Standard	NM_003927		Approved		uc002lfg.2	Q9UBB5	OTTHUMG00000132705	ENST00000256429.3:c.1027G>A	chr18.hg19:g.51690975C>T	ENSP00000256429:p.Ala343Thr	132.0	0.0		94.0	4.0	NM_003927	O95242|Q9UIS8	Missense_Mutation	SNP	ENST00000256429.3	hg19	CCDS11953.1	.	.	.	.	.	.	.	.	.	.	C	36	5.777034	0.96929	.	.	ENSG00000134046	ENST00000256429	D	0.98792	-5.14	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	D	0.97770	0.9268	L	0.37630	1.12	0.80722	D	1	P	0.42908	0.793	P	0.48654	0.585	D	0.98323	1.0529	10	0.54805	T	0.06	-1.6072	18.7633	0.91862	0.0:1.0:0.0:0.0	.	343	Q9UBB5	MBD2_HUMAN	T	343	ENSP00000256429:A343T	ENSP00000256429:A343T	A	-	1	0	MBD2	49944973	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	7.818000	0.86416	2.728000	0.93425	0.585000	0.79938	GCT	.	.		0.478	MBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256003.2	NM_003927	
SERPINB8	5271	hgsc.bcm.edu	37	18	61654208	61654208	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr18:61654208A>G	ENST00000397985.2	+	7	1077	c.821A>G	c.(820-822)gAg>gGg	p.E274G	SERPINB8_ENST00000493661.1_Intron|SERPINB8_ENST00000542677.1_Missense_Mutation_p.E92G|SERPINB8_ENST00000353706.2_Missense_Mutation_p.E274G	NM_001276490.1	NP_001263419.1	P50452	SPB8_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 8	274					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.E274V(1)		breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	17		Esophageal squamous(42;0.129)				TTAAAGCTGGAGGAGAGTTAT	0.393																																					p.E274G		Atlas-SNP	.											SERPINB8,NS,carcinoma,0,1	SERPINB8	42	.	1	Substitution - Missense(1)	lung(1)	c.A821G						.						100.0	100.0	100.0					18																	61654208		2203	4300	6503	SO:0001583	missense	5271	exon7			AGCTGGAGGAGAG	L40377	CCDS11991.1, CCDS42442.1, CCDS62460.1	18q22.1	2014-02-18	2005-08-18		ENSG00000166401	ENSG00000166401		"""Serine (or cysteine) peptidase inhibitors"""	8952	protein-coding gene	gene with protein product	"""cytoplasmic antiproteinase 2"""	601697	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 8"""	PI8		8530382, 9268635, 24172014	Standard	NM_198833		Approved	CAP2	uc002lju.3	P50452	OTTHUMG00000060596	ENST00000397985.2:c.821A>G	chr18.hg19:g.61654208A>G	ENSP00000381072:p.Glu274Gly	155.0	0.0		96.0	5.0	NM_198833	B4DTW2|Q7Z2V6|Q8N178	Missense_Mutation	SNP	ENST00000397985.2	hg19	CCDS11991.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.080559	0.76528	.	.	ENSG00000166401	ENST00000397985;ENST00000353706;ENST00000542677;ENST00000295211	D;D;T	0.85484	-1.99;-1.99;2.42	5.65	1.64	0.23874	Serpin domain (3);	0.088259	0.85682	D	0.000000	D	0.87799	0.6268	M	0.84433	2.695	0.58432	D	0.999997	P	0.36733	0.567	B	0.44224	0.444	D	0.86202	0.1619	9	.	.	.	.	12.8737	0.57978	0.6121:0.3879:0.0:0.0	.	274	P50452	SPB8_HUMAN	G	274;274;92;186	ENSP00000381072:E274G;ENSP00000331368:E274G;ENSP00000438328:E92G	.	E	+	2	0	SERPINB8	59805188	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.211000	0.58507	0.521000	0.28445	0.533000	0.62120	GAG	.	.		0.393	SERPINB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134014.1	NM_001031848	
TXNL4A	10907	hgsc.bcm.edu	37	18	77748286	77748286	+	Missense_Mutation	SNP	G	G	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr18:77748286G>T	ENST00000269601.5	-	1	307	c.107C>A	c.(106-108)cCt>cAt	p.P36H	TXNL4A_ENST00000592957.1_Intron|TXNL4A_ENST00000588162.1_Missense_Mutation_p.P36H|TXNL4A_ENST00000585474.1_Intron|TXNL4A_ENST00000591711.1_Missense_Mutation_p.P36H	NM_006701.2	NP_006692.1	P83876	TXN4A_HUMAN	thioredoxin-like 4A	36					gene expression (GO:0010467)|mitotic nuclear division (GO:0007067)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)	nucleoplasm (GO:0005654)|spliceosomal complex (GO:0005681)				breast(1)|large_intestine(1)|lung(3)	5		all_cancers(4;1.15e-12)|all_epithelial(4;8.61e-09)|all_lung(4;0.00366)|Lung NSC(4;0.00683)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0646)|Melanoma(33;0.2)		OV - Ovarian serous cystadenocarcinoma(15;7.36e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0249)		CATGCACGTAGGATCCCAGTC	0.657																																					p.P36H	Ovarian(160;2333 2597 11821 36245)	Atlas-SNP	.											.	TXNL4A	6	.	0			c.C107A						.						75.0	50.0	59.0					18																	77748286		2203	4300	6503	SO:0001583	missense	10907	exon1			CACGTAGGATCCC	AF023612	CCDS32852.1	18q23	2013-07-16	2004-08-11	2004-08-12		ENSG00000141759			30551	protein-coding gene	gene with protein product	"""similar to S. pombe dim1+"""	611595	"""thioredoxin-like 4"""	TXNL4		11015569	Standard	NM_006701		Approved	U5-15kD, DIM1, HsT161, DIB1, SNRNP15	uc002lnp.3	P83876		ENST00000269601.5:c.107C>A	chr18.hg19:g.77748286G>T	ENSP00000269601:p.Pro36His	122.0	0.0		67.0	5.0	NM_006701	B2RC18|O14834	Missense_Mutation	SNP	ENST00000269601.5	hg19	CCDS32852.1	.	.	.	.	.	.	.	.	.	.	G	16.85	3.236384	0.58886	.	.	ENSG00000141759	ENST00000269601;ENST00000355491	.	.	.	4.45	3.57	0.40892	Thioredoxin-like fold (2);	0.000000	0.85682	U	0.000000	T	0.80380	0.4612	M	0.90252	3.1	0.58432	D	0.999999	D;B	0.69078	0.997;0.09	D;B	0.66979	0.948;0.099	D	0.83531	0.0091	9	0.66056	D	0.02	-26.0171	12.2191	0.54423	0.0849:0.0:0.9151:0.0	.	36;36	O14835;P83876	.;TXN4A_HUMAN	H	36	.	ENSP00000269601:P36H	P	-	2	0	TXNL4A	75849274	1.000000	0.71417	0.869000	0.34112	0.070000	0.16714	8.375000	0.90135	0.994000	0.38892	0.655000	0.94253	CCT	.	.		0.657	TXNL4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451036.1	NM_006701	
MIER2	54531	hgsc.bcm.edu	37	19	311933	311933	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr19:311933A>G	ENST00000264819.4	-	10	906	c.896T>C	c.(895-897)cTc>cCc	p.L299P		NM_017550.1	NP_060020.1	Q8N344	MIER2_HUMAN	mesoderm induction early response 1, family member 2	299	SANT. {ECO:0000255|PROSITE- ProRule:PRU00624}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		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)		CCAAGCACAGAGCCCATCTGC	0.632																																					p.L299P		Atlas-SNP	.											.	MIER2	51	.	0			c.T896C						.						93.0	68.0	77.0					19																	311933		2203	4300	6503	SO:0001583	missense	54531	exon10			GCACAGAGCCCAT	AB033019	CCDS32855.1	19p13.3	2008-02-05	2006-04-20	2006-04-20		ENSG00000105556			29210	protein-coding gene	gene with protein product			"""KIAA1193"""	KIAA1193		10574462	Standard	NM_017550		Approved		uc002lok.1	Q8N344		ENST00000264819.4:c.896T>C	chr19.hg19:g.311933A>G	ENSP00000264819:p.Leu299Pro	163.0	0.0		89.0	4.0	NM_017550	Q9ULM7	Missense_Mutation	SNP	ENST00000264819.4	hg19	CCDS32855.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.208023	0.79240	.	.	ENSG00000105556	ENST00000264819	T	0.46063	0.88	4.67	4.67	0.58626	SANT domain, DNA binding (1);Homeodomain-like (1);SANT, eukarya (1);	0.501047	0.16424	N	0.215033	T	0.61937	0.2387	M	0.81497	2.545	0.80722	D	1	D	0.52996	0.957	P	0.57846	0.828	T	0.66964	-0.5790	10	0.87932	D	0	-16.3468	13.3114	0.60382	1.0:0.0:0.0:0.0	.	299	Q8N344	MIER2_HUMAN	P	299	ENSP00000264819:L299P	ENSP00000264819:L299P	L	-	2	0	MIER2	262933	1.000000	0.71417	0.820000	0.32676	0.892000	0.51952	5.980000	0.70516	1.757000	0.51966	0.379000	0.24179	CTC	.	.		0.632	MIER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451784.1	XM_041843	
TPGS1	91978	hgsc.bcm.edu	37	19	507710	507710	+	Silent	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr19:507710T>C	ENST00000359315.5	+	1	412	c.204T>C	c.(202-204)gcT>gcC	p.A68A	AC005775.2_ENST00000592413.1_RNA	NM_033513.2	NP_277048.2	Q6ZTW0	TPGS1_HUMAN	tubulin polyglutamylase complex subunit 1	68					adult behavior (GO:0030534)|multicellular organismal development (GO:0007275)|protein polyglutamylation (GO:0018095)|sperm axoneme assembly (GO:0007288)|synaptic transmission (GO:0007268)|vesicle localization (GO:0051648)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|motile cilium (GO:0031514)	tubulin-glutamic acid ligase activity (GO:0070740)										CCTTCCTGGCTCACTACTTCG	0.711																																					p.A68A		Atlas-SNP	.											.	.	.	.	0			c.T204C						.						7.0	10.0	9.0					19																	507710		1855	4030	5885	SO:0001819	synonymous_variant	91978	exon1			CCTGGCTCACTAC	BC009520	CCDS42454.1	19p13.3	2011-11-23	2011-11-23	2011-11-23	ENSG00000141933	ENSG00000141933			25058	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 20"""	C19orf20		11441184, 12972506	Standard	NM_033513		Approved	GTRGEO22, PGs1	uc002lou.3	Q6ZTW0		ENST00000359315.5:c.204T>C	chr19.hg19:g.507710T>C		136.0	0.0		111.0	6.0	NM_033513	Q96GE2	Silent	SNP	ENST00000359315.5	hg19	CCDS42454.1																																																																																			.	.		0.711	TPGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451887.2	NM_033513	
ELANE	1991	hgsc.bcm.edu	37	19	855736	855736	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr19:855736T>C	ENST00000590230.1	+	5	680	c.539T>C	c.(538-540)cTc>cCc	p.L180P	ELANE_ENST00000263621.1_Missense_Mutation_p.L180P			P08246	ELNE_HUMAN	elastase, neutrophil expressed	180	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				acute inflammatory response to antigenic stimulus (GO:0002438)|cellular calcium ion homeostasis (GO:0006874)|collagen catabolic process (GO:0030574)|defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|negative regulation of chemokine biosynthetic process (GO:0045079)|negative regulation of chemotaxis (GO:0050922)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-8 biosynthetic process (GO:0045415)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neutrophil mediated killing of fungus (GO:0070947)|phagocytosis (GO:0006909)|positive regulation of immune response (GO:0050778)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein catabolic process (GO:0030163)|proteolysis (GO:0006508)|response to lipopolysaccharide (GO:0032496)|response to UV (GO:0009411)|response to yeast (GO:0001878)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)|transcriptional repressor complex (GO:0017053)	cytokine binding (GO:0019955)|endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|peptidase activity (GO:0008233)|protease binding (GO:0002020)|RNA polymerase II transcription corepressor activity (GO:0001106)|serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(1)|lung(4)|pancreas(1)	13					Alpha-1-proteinase inhibitor(DB00058)|Filgrastim(DB00099)|Pegfilgrastim(DB00019)	GTGACGTCCCTCTGCCGTCGC	0.687																																					p.L180P		Atlas-SNP	.											.	ELANE	27	.	0			c.T539C						.						70.0	63.0	66.0					19																	855736		2203	4297	6500	SO:0001583	missense	1991	exon4			CGTCCCTCTGCCG		CCDS12045.1	19p13.3	2014-09-17	2009-05-05	2009-05-05	ENSG00000197561	ENSG00000197561	3.4.21.37		3309	protein-coding gene	gene with protein product	"""neutrophil elastase"", ""leukocyte elastase"", ""medullasin"""	130130	"""elastase 2, neutrophil"""	ELA2		2902087	Standard	XM_005259517		Approved	NE, HNE, HLE	uc002lqb.3	P08246		ENST00000590230.1:c.539T>C	chr19.hg19:g.855736T>C	ENSP00000466090:p.Leu180Pro	126.0	0.0		87.0	4.0	NM_001972	P09649|Q6B0D9|Q6LDP5	Missense_Mutation	SNP	ENST00000590230.1	hg19	CCDS12045.1	.	.	.	.	.	.	.	.	.	.	T	5.993	0.367050	0.11352	.	.	ENSG00000197561	ENST00000263621	D	0.88818	-2.43	4.57	-5.52	0.02560	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	1.042500	0.07743	U	0.947196	D	0.83184	0.5199	L	0.60455	1.87	0.19945	N	0.999949	B	0.27679	0.185	B	0.31191	0.125	T	0.69610	-0.5099	10	0.33940	T	0.23	.	5.3476	0.16018	0.4468:0.0:0.3617:0.1916	.	180	P08246	ELNE_HUMAN	P	180	ENSP00000263621:L180P	ENSP00000263621:L180P	L	+	2	0	ELANE	806736	0.000000	0.05858	0.000000	0.03702	0.267000	0.26476	-1.617000	0.02051	-0.792000	0.04480	-0.689000	0.03729	CTC	.	.		0.687	ELANE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457890.2	NM_001972	
MED16	10025	hgsc.bcm.edu	37	19	890977	890977	+	Missense_Mutation	SNP	C	C	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr19:890977C>T	ENST00000589119.1	-	1	154	c.155G>A	c.(154-156)cGc>cAc	p.R52H	MED16_ENST00000395808.3_Missense_Mutation_p.R52H|MED16_ENST00000269814.4_Missense_Mutation_p.R52H|RNU6-9_ENST00000384776.1_RNA|MED16_ENST00000325464.1_Missense_Mutation_p.R52H|MED16_ENST00000606828.1_Intron|MED16_ENST00000312090.6_Missense_Mutation_p.R52H			Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	52					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|receptor activity (GO:0004872)|thyroid hormone receptor binding (GO:0046966)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTCATCGCTGCGCAGGTCCAT	0.672																																					p.R52H		Atlas-SNP	.											.	MED16	61	.	0			c.G155A						.						93.0	76.0	82.0					19																	890977		2203	4300	6503	SO:0001583	missense	10025	exon2			TCGCTGCGCAGGT	AF121228	CCDS12047.1	19p13.3	2013-01-10	2007-07-30	2007-07-30		ENSG00000175221		"""WD repeat domain containing"""	17556	protein-coding gene	gene with protein product		604062	"""thyroid hormone receptor associated protein 5"""	THRAP5		10235266, 10198638	Standard	NM_005481		Approved	DRIP92, TRAP95	uc002lqd.1	Q9Y2X0		ENST00000589119.1:c.155G>A	chr19.hg19:g.890977C>T	ENSP00000464810:p.Arg52His	82.0	0.0		52.0	12.0	NM_005481	Q6PJT2|Q96AD4|Q96I35|Q9Y652	Missense_Mutation	SNP	ENST00000589119.1	hg19	CCDS12047.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.829072	0.90955	.	.	ENSG00000175221	ENST00000325464;ENST00000312090;ENST00000395808;ENST00000269814;ENST00000534906;ENST00000537596;ENST00000540679;ENST00000538572;ENST00000541440;ENST00000424039	T;T;T	0.44482	1.49;0.92;0.92	4.24	3.12	0.35913	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.359113	0.26418	N	0.024497	T	0.35799	0.0944	N	0.19112	0.55	0.38973	D	0.958795	D;P;P;P;P	0.69078	0.997;0.871;0.606;0.871;0.874	P;B;B;P;B	0.52554	0.702;0.365;0.143;0.487;0.293	T	0.29305	-1.0016	10	0.54805	T	0.06	-14.7818	9.5904	0.39543	0.0:0.8454:0.0:0.1546	.	52;52;52;52;52	B9TX03;Q9Y2X0-2;E7ETV0;Q9Y2X0-3;Q9Y2X0	.;.;.;.;MED16_HUMAN	H	52	ENSP00000325612:R52H;ENSP00000308528:R52H;ENSP00000379153:R52H	ENSP00000269814:R52H	R	-	2	0	MED16	841977	0.994000	0.37717	0.616000	0.29078	0.926000	0.56050	3.319000	0.51983	1.923000	0.55706	0.561000	0.74099	CGC	.	.		0.672	MED16-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457902.3	NM_005481	
MIDN	90007	hgsc.bcm.edu	37	19	1255586	1255586	+	Missense_Mutation	SNP	C	C	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr19:1255586C>G	ENST00000591446.2	+	6	1431	c.1022C>G	c.(1021-1023)cCg>cGg	p.P341R	MIDN_ENST00000300952.2_Missense_Mutation_p.P341R			Q504T8	MIDN_HUMAN	midnolin	341						cytosol (GO:0005829)|nucleolus (GO:0005730)				NS(1)|endometrium(3)|kidney(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGGCCTCACCGGCCCCCGAC	0.701																																					p.P341R		Atlas-SNP	.											MIDN,NS,carcinoma,0,1	MIDN	34	.	0			c.C1022G						.						23.0	27.0	26.0					19																	1255586		2196	4292	6488	SO:0001583	missense	90007	exon7			CCTCACCGGCCCC	AC004221	CCDS32864.1	19p13.3	2013-09-20			ENSG00000167470	ENSG00000167470			16298	protein-coding gene	gene with protein product		606700				10974535	Standard	XM_005259671		Approved		uc002lrp.3	Q504T8	OTTHUMG00000180144	ENST00000591446.2:c.1022C>G	chr19.hg19:g.1255586C>G	ENSP00000467679:p.Pro341Arg	63.0	0.0		66.0	3.0	NM_177401	Q96BW8	Missense_Mutation	SNP	ENST00000591446.2	hg19	CCDS32864.1	.	.	.	.	.	.	.	.	.	.	C	4.743	0.138217	0.09083	.	.	ENSG00000167470	ENST00000300952	.	.	.	3.25	3.25	0.37280	.	0.228749	0.36101	N	0.002788	T	0.11922	0.0290	N	0.08118	0	0.21064	N	0.999794	P	0.37276	0.589	B	0.33196	0.159	T	0.12344	-1.0551	9	0.22706	T	0.39	-10.6683	6.2323	0.20742	0.0:0.8584:0.0:0.1416	.	341	Q504T8	MIDN_HUMAN	R	341	.	ENSP00000300952:P341R	P	+	2	0	MIDN	1206586	0.027000	0.19231	0.004000	0.12327	0.010000	0.07245	2.755000	0.47540	1.651000	0.50673	0.462000	0.41574	CCG	.	.		0.701	MIDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449965.2		
C19orf25	148223	hgsc.bcm.edu	37	19	1478838	1478838	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr19:1478838T>C	ENST00000436106.2	-	2	460	c.65A>G	c.(64-66)cAg>cGg	p.Q22R	C19orf25_ENST00000591027.1_5'UTR|C19orf25_ENST00000586564.1_Missense_Mutation_p.Q22R|C19orf25_ENST00000588427.1_Missense_Mutation_p.Q22R|C19orf25_ENST00000588849.1_Missense_Mutation_p.Q22R|C19orf25_ENST00000427685.2_Missense_Mutation_p.Q22R|C19orf25_ENST00000585675.1_Missense_Mutation_p.Q22R|C19orf25_ENST00000588871.1_Missense_Mutation_p.Q22R|C19orf25_ENST00000592872.1_Missense_Mutation_p.Q22R			Q9UFG5	CS025_HUMAN	chromosome 19 open reading frame 25	22													Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|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)		CTCCAGGATCTGCTCCACCGT	0.701																																					p.Q22R		Atlas-SNP	.											.	C19orf25	3	.	0			c.A65G						.						8.0	10.0	9.0					19																	1478838		1868	4066	5934	SO:0001583	missense	148223	exon2			AGGATCTGCTCCA	AK075267	CCDS45898.1	19p13.3	2012-10-24			ENSG00000119559	ENSG00000119559			26711	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_152482		Approved	FLJ36666	uc010dsk.3	Q9UFG5	OTTHUMG00000180092	ENST00000436106.2:c.65A>G	chr19.hg19:g.1478838T>C	ENSP00000397394:p.Gln22Arg	157.0	0.0		79.0	4.0	NM_152482	B3KQN6|Q8N9R7|Q8WV94	Missense_Mutation	SNP	ENST00000436106.2	hg19	CCDS45898.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.077514	0.76528	.	.	ENSG00000119559	ENST00000436106;ENST00000427685;ENST00000335104	.	.	.	4.77	4.77	0.60923	.	0.066848	0.64402	D	0.000011	T	0.67420	0.2891	M	0.63843	1.955	0.45227	D	0.998238	D;P;P	0.67145	0.996;0.932;0.879	P;P;P	0.59424	0.857;0.66;0.58	T	0.70085	-0.4969	9	0.59425	D	0.04	.	10.6844	0.45835	0.0:0.0:0.0:1.0	.	22;22;22	E7EP72;Q9UFG5;B4DNJ8	.;CS025_HUMAN;.	R	22	.	ENSP00000335309:Q22R	Q	-	2	0	C19orf25	1429838	1.000000	0.71417	1.000000	0.80357	0.298000	0.27526	2.976000	0.49289	1.793000	0.52555	0.459000	0.35465	CAG	.	.		0.701	C19orf25-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449694.1	NM_152482	
TMPRSS9	360200	hgsc.bcm.edu	37	19	2396594	2396594	+	Missense_Mutation	SNP	G	G	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr19:2396594G>T	ENST00000332578.3	+	2	200	c.200G>T	c.(199-201)cGg>cTg	p.R67L	TMPRSS9_ENST00000592650.1_3'UTR	NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	67					plasminogen activation (GO:0031639)	integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				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)		CGGGGAATCCGGTGGACCAGC	0.672																																					p.R67L		Atlas-SNP	.											.	TMPRSS9	79	.	0			c.G200T						.						30.0	25.0	27.0					19																	2396594		2203	4300	6503	SO:0001583	missense	360200	exon2			GAATCCGGTGGAC	AJ488946	CCDS12088.1	19p13.3	2010-04-13						"""Serine peptidases / Transmembrane"""	30079	protein-coding gene	gene with protein product	"""polyserase 1"""	610477				12886014	Standard	NM_182973		Approved		uc010xgx.2	Q7Z410		ENST00000332578.3:c.200G>T	chr19.hg19:g.2396594G>T	ENSP00000330264:p.Arg67Leu	131.0	0.0		89.0	5.0	NM_182973	Q6ZND6|Q7Z411	Missense_Mutation	SNP	ENST00000332578.3	hg19	CCDS12088.1	.	.	.	.	.	.	.	.	.	.	G	9.892	1.204588	0.22205	.	.	ENSG00000178297	ENST00000395264;ENST00000332578	D	0.88124	-2.34	3.98	0.292	0.15737	.	1.008230	0.07982	N	0.985760	T	0.80308	0.4599	L	0.45581	1.43	0.09310	N	1	B;B	0.13594	0.007;0.008	B;B	0.17979	0.003;0.02	T	0.65076	-0.6256	10	0.34782	T	0.22	.	3.8038	0.08768	0.0967:0.2911:0.4637:0.1484	.	67;67	Q7Z410;E7EMP4	TMPS9_HUMAN;.	L	67	ENSP00000330264:R67L	ENSP00000330264:R67L	R	+	2	0	TMPRSS9	2347594	0.000000	0.05858	0.028000	0.17463	0.005000	0.04900	-0.952000	0.03881	0.783000	0.33636	-0.314000	0.08810	CGG	.	.		0.672	TMPRSS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451330.3	NM_182973	
SLC39A3	29985	hgsc.bcm.edu	37	19	2733301	2733301	+	Silent	SNP	C	C	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr19:2733301C>G	ENST00000269740.4	-	3	722	c.393G>C	c.(391-393)tcG>tcC	p.S131S	SLC39A3_ENST00000545664.1_Silent_p.S131S|AC006538.4_ENST00000586572.1_Intron	NM_144564.4	NP_653165.2	Q9BRY0	S39A3_HUMAN	solute carrier family 39 (zinc transporter), member 3	131					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	zinc ion transmembrane transporter activity (GO:0005385)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10		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)		TCTCATACTCCGAGTCGCTGC	0.687																																					p.S131S		Atlas-SNP	.											.	SLC39A3	20	.	0			c.G393C						.						40.0	41.0	41.0					19																	2733301		2201	4300	6501	SO:0001819	synonymous_variant	29985	exon3			ATACTCCGAGTCG	AF052125	CCDS12093.1, CCDS45909.1	19p13.3	2013-05-22			ENSG00000141873	ENSG00000141873		"""Solute carriers"""	17128	protein-coding gene	gene with protein product		612168				10681536	Standard	NM_144564		Approved	ZIP3	uc002lwg.3	Q9BRY0		ENST00000269740.4:c.393G>C	chr19.hg19:g.2733301C>G		110.0	0.0		68.0	4.0	NM_144564	B3KMJ3|Q8WUG1	Silent	SNP	ENST00000269740.4	hg19	CCDS12093.1																																																																																			.	.		0.687	SLC39A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451354.2		
ZNF77	58492	hgsc.bcm.edu	37	19	2933802	2933802	+	Silent	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr19:2933802A>G	ENST00000314531.4	-	4	1415	c.1323T>C	c.(1321-1323)tgT>tgC	p.C441C		NM_021217.2	NP_067040.1	Q15935	ZNF77_HUMAN	zinc finger protein 77	441					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)	17				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)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGCTTTCCCACAATGCTTAC	0.502																																					p.C441C		Atlas-SNP	.											.	ZNF77	47	.	0			c.T1323C						.						90.0	78.0	82.0					19																	2933802		2203	4300	6503	SO:0001819	synonymous_variant	58492	exon4			TTTCCCACAATGC	X65230	CCDS12099.1	19p13.3	2013-01-08	2006-05-12					"""Zinc fingers, C2H2-type"", ""-"""	13150	protein-coding gene	gene with protein product		194551	"""zinc finger protein 77 (pT1)"""			8478004	Standard	NM_021217		Approved	pT1	uc002lws.4	Q15935		ENST00000314531.4:c.1323T>C	chr19.hg19:g.2933802A>G		117.0	0.0		65.0	4.0	NM_021217	Q86XJ3|Q9NPP0	Silent	SNP	ENST00000314531.4	hg19	CCDS12099.1																																																																																			.	.		0.502	ZNF77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451924.1	NM_021217	
TLE2	7089	hgsc.bcm.edu	37	19	3006425	3006425	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr19:3006425T>C	ENST00000262953.6	-	15	1755	c.1493A>G	c.(1492-1494)gAc>gGc	p.D498G	TLE2_ENST00000447365.2_Missense_Mutation_p.D165G|TLE2_ENST00000426948.2_Missense_Mutation_p.D512G|TLE2_ENST00000455444.2_Missense_Mutation_p.D376G|TLE2_ENST00000590536.1_Missense_Mutation_p.D499G|TLE2_ENST00000586422.1_Intron|TLE2_ENST00000443826.3_Missense_Mutation_p.D376G|TLE2_ENST00000591529.1_Missense_Mutation_p.D512G	NM_003260.4	NP_003251.2	Q04725	TLE2_HUMAN	transducin-like enhancer of split 2	498					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13				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)		CACCAGGCAGTCGAGCTGGGC	0.682																																					p.D512G		Atlas-SNP	.											.	TLE2	35	.	0			c.A1535G						.						12.0	14.0	13.0					19																	3006425		1945	4117	6062	SO:0001583	missense	7089	exon16			AGGCAGTCGAGCT	M99436	CCDS45911.1, CCDS45912.1, CCDS45913.1, CCDS74255.1	19p13.3	2014-03-07	2014-03-07					"""WD repeat domain containing"""	11838	protein-coding gene	gene with protein product	"""enhancer of split groucho 2"""	601041	"""transducin-like enhancer of split 2, homolog of Drosophila E(sp1)"", ""transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila)"""			8808280	Standard	NM_003260		Approved	ESG2, GRG2, ESG, FLJ41188	uc002lww.3	Q04725		ENST00000262953.6:c.1493A>G	chr19.hg19:g.3006425T>C	ENSP00000262953:p.Asp498Gly	113.0	0.0		110.0	5.0	NM_001144761	B4DE03|E9PEV7|F8WCH2|Q8WVY0|Q9Y6S0	Missense_Mutation	SNP	ENST00000262953.6	hg19	CCDS45911.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.32|17.32	3.360851|3.360851	0.61403|0.61403	.|.	.|.	ENSG00000065717|ENSG00000065717	ENST00000262953;ENST00000455444;ENST00000450017;ENST00000447365;ENST00000443826;ENST00000426948|ENST00000439015	T;T;T;T;T|.	0.11169|.	2.8;2.8;2.8;2.8;2.8|.	3.33|3.33	3.33|3.33	0.38152|0.38152	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);|.	0.050469|.	0.85682|.	D|.	0.000000|.	T|T	0.72882|0.72882	0.3516|0.3516	M|M	0.77103|0.77103	2.36|2.36	0.50313|0.50313	D|D	0.999861|0.999861	D;B;B;D;D|.	0.56035|.	0.974;0.054;0.113;0.974;0.974|.	D;B;B;D;D|.	0.68765|.	0.96;0.028;0.069;0.96;0.96|.	T|T	0.76683|0.76683	-0.2869|-0.2869	10|6	0.87932|0.87932	D|D	0|0	-15.5278|-15.5278	11.0158|11.0158	0.47687|0.47687	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	376;165;512;376;498|.	E9PEV7;B4DE62;F8WCH2;B4DE03;Q04725|.	.;.;.;.;TLE2_HUMAN|.	G|A	498;376;492;165;376;512|359	ENSP00000262953:D498G;ENSP00000413107:D376G;ENSP00000406523:D165G;ENSP00000392427:D376G;ENSP00000392869:D512G|.	ENSP00000262953:D498G|ENSP00000398351:T359A	D|T	-|-	2|1	0|0	TLE2|TLE2	2957425|2957425	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.943000|0.943000	0.58893|0.58893	7.682000|7.682000	0.84083|0.84083	1.537000|1.537000	0.49254|0.49254	0.254000|0.254000	0.18369|0.18369	GAC|ACT	.	.		0.682	TLE2-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000452194.2	NM_003260	
NFIC	4782	hgsc.bcm.edu	37	19	3381967	3381967	+	Silent	SNP	C	C	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr19:3381967C>T	ENST00000443272.2	+	2	339	c.288C>T	c.(286-288)atC>atT	p.I96I	NFIC_ENST00000341919.3_Silent_p.I96I|NFIC_ENST00000346156.5_Silent_p.I87I|NFIC_ENST00000395111.3_Silent_p.I87I|NFIC_ENST00000590282.1_Silent_p.I96I|NFIC_ENST00000589123.1_Silent_p.I87I|NFIC_ENST00000586919.1_Silent_p.I87I	NM_001245002.1	NP_001231931.1	P08651	NFIC_HUMAN	nuclear factor I/C (CCAAT-binding transcription factor)	96					DNA replication (GO:0006260)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleolus (GO:0005730)|nucleus (GO:0005634)	core promoter proximal region DNA binding (GO:0001159)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191)		TGCTGAGCATCACCGGCAAGA	0.682																																					p.I96I		Atlas-SNP	.											.	NFIC	36	.	0			c.C288T						.						74.0	80.0	78.0					19																	3381967		2203	4299	6502	SO:0001819	synonymous_variant	4782	exon2			GAGCATCACCGGC	X12492	CCDS12107.1, CCDS45914.1, CCDS58640.1, CCDS59330.1, CCDS59331.1	19p13.3	2008-02-05				ENSG00000141905			7786	protein-coding gene	gene with protein product		600729		NFI		3398920, 7590749	Standard	NM_205843		Approved	CTF, NF-I, CTF5	uc010xhi.2	P08651		ENST00000443272.2:c.288C>T	chr19.hg19:g.3381967C>T		89.0	0.0		74.0	4.0	NM_001245004	A8K1H0|B7Z4U5|B7Z9C3|K7EMU1|P08652|Q14932|Q9UPJ3|Q9UPJ9|Q9UPK0|Q9UPK1	Silent	SNP	ENST00000443272.2	hg19	CCDS59330.1																																																																																			.	.		0.682	NFIC-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452834.1	NM_005597	
FSD1	79187	hgsc.bcm.edu	37	19	4323608	4323608	+	Missense_Mutation	SNP	G	G	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr19:4323608G>A	ENST00000221856.6	+	13	1606	c.1459G>A	c.(1459-1461)Gct>Act	p.A487T	STAP2_ENST00000597593.1_5'Flank|FSD1_ENST00000597590.1_3'UTR	NM_024333.2	NP_077309.1	Q9BTV5	FSD1_HUMAN	fibronectin type III and SPRY domain containing 1	487					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)				breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGAGGCAGTGCTACCAGCAG	0.672																																					p.A487T		Atlas-SNP	.											.	FSD1	51	.	0			c.G1459A						.						27.0	30.0	29.0					19																	4323608		2203	4300	6503	SO:0001583	missense	79187	exon13			GGCAGTGCTACCA	AF316829	CCDS12127.1	19p13.3	2013-02-11	2005-03-01			ENSG00000105255		"""Fibronectin type III domain containing"""	13745	protein-coding gene	gene with protein product		609828	"""fibronectin type 3 and SPRY domain containing 1"""			11267680	Standard	NM_024333		Approved	MGC3213, MIR1	uc002lzy.2	Q9BTV5		ENST00000221856.6:c.1459G>A	chr19.hg19:g.4323608G>A	ENSP00000221856:p.Ala487Thr	197.0	0.0		111.0	5.0	NM_024333	B2RDT0|Q9BXN0|Q9HAG4	Missense_Mutation	SNP	ENST00000221856.6	hg19	CCDS12127.1	.	.	.	.	.	.	.	.	.	.	G	17.69	3.453067	0.63290	.	.	ENSG00000105255	ENST00000221856	T	0.28666	1.6	4.97	3.93	0.45458	.	0.279039	0.36268	N	0.002698	T	0.22975	0.0555	L	0.36672	1.1	0.34036	D	0.654465	P	0.36683	0.565	B	0.32928	0.155	T	0.38178	-0.9673	10	0.62326	D	0.03	.	11.0405	0.47827	0.093:0.0:0.907:0.0	.	487	Q9BTV5	FSD1_HUMAN	T	487	ENSP00000221856:A487T	ENSP00000221856:A487T	A	+	1	0	FSD1	4274608	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	3.410000	0.52664	1.095000	0.41419	0.478000	0.44815	GCT	.	.		0.672	FSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458091.1	NM_024333	
VAV1	7409	hgsc.bcm.edu	37	19	6828673	6828673	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr19:6828673A>G	ENST00000602142.1	+	12	1215	c.1133A>G	c.(1132-1134)gAg>gGg	p.E378G	VAV1_ENST00000596764.1_Missense_Mutation_p.E346G|VAV1_ENST00000304076.2_Missense_Mutation_p.E378G|VAV1_ENST00000599806.1_Missense_Mutation_p.E323G|VAV1_ENST00000539284.1_Missense_Mutation_p.E281G	NM_005428.3	NP_005419.2	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	378					apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|reactive oxygen species metabolic process (GO:0072593)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						CGAGACAACGAGACACTGCGA	0.632																																					p.E378G		Atlas-SNP	.											.	VAV1	140	.	0			c.A1133G						.						133.0	131.0	132.0					19																	6828673		2203	4300	6503	SO:0001583	missense	7409	exon12			ACAACGAGACACT		CCDS12174.1, CCDS59341.1, CCDS59342.1	19p13.2	2013-02-14	2007-07-25			ENSG00000141968		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12657	protein-coding gene	gene with protein product		164875	"""vav 1 oncogene"""	VAV		9438848	Standard	NM_005428		Approved		uc010xjh.2	P15498		ENST00000602142.1:c.1133A>G	chr19.hg19:g.6828673A>G	ENSP00000472929:p.Glu378Gly	144.0	0.0		98.0	4.0	NM_005428	B4DVK9|M0QXX6|Q15860	Missense_Mutation	SNP	ENST00000602142.1	hg19	CCDS12174.1	.	.	.	.	.	.	.	.	.	.	A	29.8	5.033448	0.93575	.	.	ENSG00000141968	ENST00000304076;ENST00000539284	T;T	0.75704	-0.67;-0.96	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	D	0.84311	0.5444	M	0.85299	2.745	0.80722	D	1	D;D;D;D	0.63046	0.992;0.981;0.987;0.989	P;P;P;P	0.57009	0.746;0.64;0.811;0.811	D	0.87177	0.2225	10	0.87932	D	0	.	13.1651	0.59567	1.0:0.0:0.0:0.0	.	281;378;323;378	F5H5P4;B2R8B5;Q96D37;P15498	.;.;.;VAV_HUMAN	G	378;281	ENSP00000302269:E378G;ENSP00000443242:E281G	ENSP00000302269:E378G	E	+	2	0	VAV1	6779673	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	6.471000	0.73562	2.010000	0.58986	0.482000	0.46254	GAG	.	.		0.632	VAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458475.1		
INSR	3643	hgsc.bcm.edu	37	19	7132201	7132201	+	Missense_Mutation	SNP	G	G	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr19:7132201G>A	ENST00000302850.5	-	14	2952	c.2810C>T	c.(2809-2811)aCg>aTg	p.T937M	INSR_ENST00000341500.5_Missense_Mutation_p.T925M	NM_000208.2	NP_000199.2	P06213	INSR_HUMAN	insulin receptor	937	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.		T -> M (in LEPRCH; impaired receptor processing).		activation of MAPK activity (GO:0000187)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|carbohydrate metabolic process (GO:0005975)|cellular response to growth factor stimulus (GO:0071363)|cellular response to insulin stimulus (GO:0032869)|epidermis development (GO:0008544)|exocrine pancreas development (GO:0031017)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|insulin receptor signaling pathway (GO:0008286)|male sex determination (GO:0030238)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of developmental growth (GO:0048639)|positive regulation of DNA replication (GO:0045740)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of respiratory burst (GO:0060267)|protein autophosphorylation (GO:0046777)|protein heterotetramerization (GO:0051290)|regulation of embryonic development (GO:0045995)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction by phosphorylation (GO:0023014)|transformation of host cell by virus (GO:0019087)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|insulin receptor complex (GO:0005899)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|insulin binding (GO:0043559)|insulin receptor substrate binding (GO:0043560)|insulin-activated receptor activity (GO:0005009)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor II binding (GO:0031995)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|PTB domain binding (GO:0051425)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					"""""""Insulin(DB00071)|""""Insulin(DB08914)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	GGTGGGTTCCGTCCAAGAGCC	0.602																																					p.T937M		Atlas-SNP	.											.	INSR	265	.	0			c.C2810T	GRCh37	CM970787	INSR	M		.						92.0	75.0	81.0					19																	7132201		2203	4300	6503	SO:0001583	missense	3643	exon14			GGTTCCGTCCAAG	M10051	CCDS12176.1, CCDS42487.1	19p13.3-p13.2	2013-02-11				ENSG00000171105		"""CD molecules"", ""Fibronectin type III domain containing"""	6091	protein-coding gene	gene with protein product		147670				2983222	Standard	NM_000208		Approved	CD220	uc002mgd.1	P06213		ENST00000302850.5:c.2810C>T	chr19.hg19:g.7132201G>A	ENSP00000303830:p.Thr937Met	120.0	0.0		87.0	4.0	NM_000208	Q17RW0|Q59H98|Q9UCB7|Q9UCB8|Q9UCB9	Missense_Mutation	SNP	ENST00000302850.5	hg19	CCDS12176.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.486413	0.84854	.	.	ENSG00000171105	ENST00000302850;ENST00000341500	T;T	0.54479	0.57;0.57	6.07	6.07	0.98685	Fibronectin, type III (2);	0.000000	0.43110	U	0.000604	T	0.80717	0.4676	M	0.93638	3.44	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.84668	0.0710	10	0.87932	D	0	.	18.1531	0.89682	0.0:0.0:1.0:0.0	.	925;937	P06213-2;P06213	.;INSR_HUMAN	M	937;925	ENSP00000303830:T937M;ENSP00000342838:T925M	ENSP00000303830:T937M	T	-	2	0	INSR	7083201	1.000000	0.71417	0.972000	0.41901	0.623000	0.37688	9.047000	0.93823	2.885000	0.99019	0.655000	0.94253	ACG	.	.		0.602	INSR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458544.1		
ZNF558	148156	hgsc.bcm.edu	37	19	8922642	8922642	+	Missense_Mutation	SNP	G	G	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr19:8922642G>C	ENST00000601372.1	-	10	1235	c.524C>G	c.(523-525)aCt>aGt	p.T175S	ZNF558_ENST00000301475.1_Missense_Mutation_p.T175S|ZNF558_ENST00000444186.2_Missense_Mutation_p.T104S			Q96NG5	ZN558_HUMAN	zinc finger protein 558	175					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15						TTTTTCTCCAGTATGAATTCT	0.388																																					p.T175S		Atlas-SNP	.											.	ZNF558	43	.	0			c.C524G						.						55.0	53.0	54.0					19																	8922642		2203	4300	6503	SO:0001583	missense	148156	exon6			TCTCCAGTATGAA	AK055494	CCDS12208.1	19p13.2	2013-09-20			ENSG00000167785	ENSG00000167785		"""Zinc fingers, C2H2-type"", ""-"""	26422	protein-coding gene	gene with protein product							Standard	NM_144693		Approved	FLJ30932	uc002mkn.1	Q96NG5	OTTHUMG00000182196	ENST00000601372.1:c.524C>G	chr19.hg19:g.8922642G>C	ENSP00000471277:p.Thr175Ser	134.0	0.0		79.0	4.0	NM_144693	A8K5F0|B7Z798	Missense_Mutation	SNP	ENST00000601372.1	hg19	CCDS12208.1	.	.	.	.	.	.	.	.	.	.	G	19.98	3.927872	0.73327	.	.	ENSG00000167785	ENST00000301475;ENST00000444186	T;T	0.24151	1.87;1.87	4.77	4.77	0.60923	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.42821	D	0.000641	T	0.27313	0.0670	L	0.31065	0.9	0.34944	D	0.750559	B	0.26744	0.158	B	0.38655	0.278	T	0.41324	-0.9515	10	0.56958	D	0.05	-12.2029	15.3356	0.74250	0.0:0.0:1.0:0.0	.	175	Q96NG5	ZN558_HUMAN	S	175;104	ENSP00000301475:T175S;ENSP00000410703:T104S	ENSP00000301475:T175S	T	-	2	0	ZNF558	8783642	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	4.834000	0.62774	2.485000	0.83878	0.591000	0.81541	ACT	.	.		0.388	ZNF558-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459955.2	NM_144693	
MUC16	94025	hgsc.bcm.edu	37	19	8976277	8976277	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr19:8976277T>C	ENST00000397910.4	-	75	42754	c.42551A>G	c.(42550-42552)gAt>gGt	p.D14184G	MUC16_ENST00000596956.1_Intron|MUC16_ENST00000380951.5_Missense_Mutation_p.D825G	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	14215	SEA 14. {ECO:0000255|PROSITE- ProRule:PRU00188}.			Missing (in Ref. 3; AAK74120). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAAGAGGCTATCCCTGTCCAG	0.512																																					p.D14184G		Atlas-SNP	.											.	MUC16	4315	.	0			c.A42551G						.						62.0	59.0	60.0					19																	8976277		2003	4160	6163	SO:0001583	missense	94025	exon75			AGGCTATCCCTGT	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.42551A>G	chr19.hg19:g.8976277T>C	ENSP00000381008:p.Asp14184Gly	95.0	0.0		98.0	5.0	NM_024690	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	hg19	CCDS54212.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	t|t	5.507|5.507	0.278471|0.278471	0.10403|0.10403	.|.	.|.	ENSG00000181143|ENSG00000181143	ENST00000397910;ENST00000380951|ENST00000542240	T;T|.	0.39229|.	1.09;1.09|.	4.07|4.07	-0.594|-0.594	0.11664|0.11664	.|.	0.515438|.	0.15762|.	N|.	0.245871|.	T|T	0.37865|0.37865	0.1019|0.1019	L|L	0.38531|0.38531	1.155|1.155	.|.	.|.	.|.	B;D|.	0.60575|.	0.006;0.988|.	B;D|.	0.75020|.	0.007;0.985|.	T|T	0.45366|0.45366	-0.9266|-0.9266	9|4	0.52906|.	T|.	0.07|.	.|.	7.4395|7.4395	0.27174|0.27174	0.0:0.4042:0.0:0.5958|0.0:0.4042:0.0:0.5958	.|.	21829;14184|.	Q8WXI7;B5ME49|.	MUC16_HUMAN;.|.	G|V	14184;825|1007	ENSP00000381008:D14184G;ENSP00000370338:D825G|.	ENSP00000370338:D825G|.	D|I	-|-	2|1	0|0	MUC16|MUC16	8837277|8837277	0.000000|0.000000	0.05858|0.05858	0.010000|0.010000	0.14722|0.14722	0.032000|0.032000	0.12392|0.12392	-0.901000|-0.901000	0.04093|0.04093	-0.281000|-0.281000	0.09141|0.09141	0.456000|0.456000	0.33151|0.33151	GAT|ATA	.	.		0.512	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
ZNF177	7730	hgsc.bcm.edu	37	19	9491942	9491942	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr19:9491942A>G	ENST00000589262.1	+	6	1001	c.935A>G	c.(934-936)tAt>tGt	p.Y312C	ZNF177_ENST00000602738.1_Missense_Mutation_p.Y152C|ZNF177_ENST00000590616.1_Intron|ZNF177_ENST00000602856.1_3'UTR|ZNF177_ENST00000434737.2_Missense_Mutation_p.Y312C|ZNF177_ENST00000541595.2_Missense_Mutation_p.Y152C|ZNF177_ENST00000343499.4_Missense_Mutation_p.Y152C|ZNF177_ENST00000446085.4_3'UTR	NM_001172651.1	NP_001166122.1	Q13360	ZN177_HUMAN	zinc finger protein 177	312					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	blood microparticle (GO:0072562)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|stomach(2)	13						GAGAAGCCTTATGAGTGTGAT	0.433																																					p.Y312C		Atlas-SNP	.											.	ZNF177	57	.	0			c.A935G						.						100.0	93.0	95.0					19																	9491942		2203	4300	6503	SO:0001583	missense	7730	exon6			AGCCTTATGAGTG	U37263, BC012012	CCDS12212.1, CCDS54214.1	19p13.2	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	12966	protein-coding gene	gene with protein product		601276					Standard	NM_003451		Approved		uc021uon.1	Q13360		ENST00000589262.1:c.935A>G	chr19.hg19:g.9491942A>G	ENSP00000468531:p.Tyr312Cys	165.0	0.0		91.0	4.0	NM_001172651	B4DY57|E9PDG0|I3L0I4|Q96ER2	Missense_Mutation	SNP	ENST00000589262.1	hg19	CCDS54214.1	.	.	.	.	.	.	.	.	.	.	A	10.86	1.469232	0.26423	.	.	ENSG00000188629	ENST00000541595;ENST00000343499;ENST00000434737	T;T;T	0.25414	1.8;1.8;1.8	2.64	0.345	0.16011	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.44953	0.1318	M	0.79614	2.46	0.26986	N	0.965257	D;D	0.76494	0.999;0.999	D;D	0.70487	0.926;0.969	T	0.53690	-0.8403	8	0.87932	D	0	.	6.4667	0.21985	0.3798:0.0:0.0:0.6202	.	312;152	B4DY57;Q13360	.;ZN177_HUMAN	C	152;152;312	ENSP00000445323:Y152C;ENSP00000341497:Y152C;ENSP00000415070:Y312C	ENSP00000341497:Y152C	Y	+	2	0	ZNF177	9352942	0.000000	0.05858	0.043000	0.18650	0.873000	0.50193	0.001000	0.13038	0.001000	0.14605	-0.490000	0.04691	TAT	.	.		0.433	ZNF177-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449028.1	NM_003451	
S1PR5	53637	hgsc.bcm.edu	37	19	10624905	10624905	+	Silent	SNP	C	C	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr19:10624905C>A	ENST00000439028.3	-	2	908	c.783G>T	c.(781-783)gtG>gtT	p.V261V	S1PR5_ENST00000333430.4_Silent_p.V261V	NM_001166215.1	NP_001159687.1	Q9H228	S1PR5_HUMAN	sphingosine-1-phosphate receptor 5	261					regulation of neuron differentiation (GO:0045664)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sphingosine-1-phosphate receptor activity (GO:0038036)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	12					Fingolimod(DB08868)	CCCAACATGCCACAAAGGCCA	0.711																																					p.V261V		Atlas-SNP	.											.	S1PR5	33	.	0			c.G783T						.						21.0	21.0	21.0					19																	10624905		2188	4291	6479	SO:0001819	synonymous_variant	53637	exon2			ACATGCCACAAAG	AK074661	CCDS12240.1	19p13.2	2012-08-08	2008-04-30	2008-04-30		ENSG00000180739		"""GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"""	14299	protein-coding gene	gene with protein product		605146	"""endothelial differentiation, sphingolipid G-protein-coupled receptor, 8"""	EDG8		10799507	Standard	NM_030760		Approved	Edg-8	uc002mou.2	Q9H228		ENST00000439028.3:c.783G>T	chr19.hg19:g.10624905C>A		96.0	0.0		78.0	5.0	NM_030760	Q6NW11	Silent	SNP	ENST00000439028.3	hg19	CCDS12240.1	.	.	.	.	.	.	.	.	.	.	C	8.536	0.872195	0.17322	.	.	ENSG00000180739	ENST00000359134	.	.	.	4.37	-0.479	0.12089	.	.	.	.	.	T	0.54013	0.1832	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	T	0.55755	-0.8091	5	0.62326	D	0.03	.	3.1024	0.06330	0.2363:0.2835:0.386:0.0942	.	.	.	.	C	230	.	ENSP00000352045:G230C	G	-	1	0	S1PR5	10485905	0.035000	0.19736	0.145000	0.22337	0.824000	0.46624	0.215000	0.17562	0.462000	0.27095	0.491000	0.48974	GGC	.	.		0.711	S1PR5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452015.1	NM_030760	
C19orf80	55908	hgsc.bcm.edu	37	19	11352157	11352157	+	Missense_Mutation	SNP	C	C	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr19:11352157C>T	ENST00000252453.8	+	3	515	c.496C>T	c.(496-498)Ctc>Ttc	p.L166F	C19orf80_ENST00000591200.1_Missense_Mutation_p.L67F|DOCK6_ENST00000294618.7_Intron	NM_018687.6	NP_061157.3	Q6UXH0	BETAT_HUMAN	chromosome 19 open reading frame 80	166					cellular lipid metabolic process (GO:0044255)|glucose metabolic process (GO:0006006)|positive regulation of protein processing (GO:0010954)|regulation of lipoprotein metabolic process (GO:0050746)|triglyceride homeostasis (GO:0070328)|type B pancreatic cell proliferation (GO:0044342)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			NS(1)|breast(1)|endometrium(2)	4						CCTATGGGCCCTCACAGGCCA	0.642																																					p.L166F		Atlas-SNP	.											.	C19orf80	8	.	0			c.C496T						.						9.0	12.0	11.0					19																	11352157		2091	4114	6205	SO:0001583	missense	55908	exon3			TGGGCCCTCACAG		CCDS54220.1	19p13.2	2014-02-13			ENSG00000130173	ENSG00000130173			24933	protein-coding gene	gene with protein product	"""lipasin"", ""betatrophin"""					22809513, 23150577, 24262987	Standard	NM_018687		Approved	TD26, RIFL, ANGPTL8	uc021upg.1	Q6UXH0		ENST00000252453.8:c.496C>T	chr19.hg19:g.11352157C>T	ENSP00000252453:p.Leu166Phe	130.0	0.0		72.0	18.0	NM_018687	Q9NQZ1	Missense_Mutation	SNP	ENST00000252453.8	hg19	CCDS54220.1	.	.	.	.	.	.	.	.	.	.	C	13.56	2.274373	0.40194	.	.	ENSG00000130173	ENST00000397785;ENST00000252453	T	0.59364	0.27	4.17	3.09	0.35607	.	0.000000	0.42821	D	0.000658	T	0.67711	0.2922	L	0.59436	1.845	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.55244	-0.8171	10	0.87932	D	0	-6.3913	8.1266	0.31003	0.0:0.8834:0.0:0.1166	.	166	Q6UXH0	TD26_HUMAN	F	91;166	ENSP00000252453:L166F	ENSP00000252453:L166F	L	+	1	0	C19orf80	11213157	0.385000	0.25172	0.042000	0.18584	0.473000	0.32948	1.533000	0.36040	2.174000	0.68829	0.306000	0.20318	CTC	.	.		0.642	C19orf80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453175.1	NM_018687	
FBXW9	84261	hgsc.bcm.edu	37	19	12805705	12805705	+	Missense_Mutation	SNP	G	G	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr19:12805705G>T	ENST00000380339.3	-	2	493	c.457C>A	c.(457-459)Ctg>Atg	p.L153M	FBXW9_ENST00000393261.3_Missense_Mutation_p.L153M|FBXW9_ENST00000587955.1_Missense_Mutation_p.L143M|FBXW9_ENST00000544494.1_Intron			Q5XUX1	FBXW9_HUMAN	F-box and WD repeat domain containing 9	153					SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)					cervix(1)|lung(4)|ovary(1)|prostate(1)	7						CAGCGGGACAGGTGCTGCTCC	0.632																																					p.L153M		Atlas-SNP	.											.	FBXW9	30	.	0			c.C457A						.						33.0	39.0	37.0					19																	12805705		2081	4227	6308	SO:0001583	missense	84261	exon2			GGGACAGGTGCTG	BC004290	CCDS12278.2	19p13.2	2013-01-09	2007-02-08		ENSG00000132004	ENSG00000132004		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	28136	protein-coding gene	gene with protein product		609074	"""F-box and WD-40 domain protein 9"""			12477932	Standard	NM_032301		Approved	MGC10870, Fbw9	uc002mum.1	Q5XUX1	OTTHUMG00000150152	ENST00000380339.3:c.457C>A	chr19.hg19:g.12805705G>T	ENSP00000369696:p.Leu153Met	118.0	0.0		82.0	4.0	NM_032301	B3KVP7|Q9BT89	Missense_Mutation	SNP	ENST00000380339.3	hg19		.	.	.	.	.	.	.	.	.	.	G	14.74	2.626573	0.46840	.	.	ENSG00000132004	ENST00000393261;ENST00000380339	T;T	0.48836	1.8;0.8	5.01	2.72	0.32119	.	0.252675	0.31636	N	0.007317	T	0.51041	0.1651	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.70716	0.935;0.97	T	0.42699	-0.9436	10	0.33940	T	0.23	-12.9353	9.015	0.36164	0.2464:0.0:0.7536:0.0	.	143;153	Q5XUX1-2;Q5XUX1-3	.;.	M	153	ENSP00000376945:L153M;ENSP00000369696:L153M	ENSP00000369696:L153M	L	-	1	2	FBXW9	12666705	0.989000	0.36119	1.000000	0.80357	0.792000	0.44763	0.727000	0.25999	1.127000	0.42034	0.456000	0.33151	CTG	.	.		0.632	FBXW9-201	KNOWN	basic	protein_coding	protein_coding		NM_032301	
NDUFB7	4713	hgsc.bcm.edu	37	19	14677715	14677715	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr19:14677715T>C	ENST00000215565.2	-	2	204	c.143A>G	c.(142-144)gAc>gGc	p.D48G		NM_004146.5	NP_004137.2	P17568	NDUB7_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 7, 18kDa	48					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			endometrium(3)|large_intestine(2)|lung(2)|ovary(1)	8						CAGCTGCGCGTCCATCATCTC	0.657																																					p.D48G		Atlas-SNP	.											.	NDUFB7	14	.	0			c.A143G						.						42.0	34.0	37.0					19																	14677715		2194	4294	6488	SO:0001583	missense	4713	exon2			TGCGCGTCCATCA		CCDS12314.1	19p13.12	2011-07-04	2002-08-29		ENSG00000099795	ENSG00000099795		"""Mitochondrial respiratory chain complex / Complex I"""	7702	protein-coding gene	gene with protein product	"""NADH-ubiquinone oxidoreductase B18 subunit"", ""complex I B18 subunit"""	603842	"""NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 7 (18kD, B18)"""			9763677, 10830904	Standard	NM_004146		Approved	B18, CI-B18, MGC2480	uc002mzg.3	P17568		ENST00000215565.2:c.143A>G	chr19.hg19:g.14677715T>C	ENSP00000215565:p.Asp48Gly	113.0	0.0		79.0	4.0	NM_004146	Q6ICN9|Q9UI16	Missense_Mutation	SNP	ENST00000215565.2	hg19	CCDS12314.1	.	.	.	.	.	.	.	.	.	.	T	1.256	-0.617205	0.03663	.	.	ENSG00000099795	ENST00000215565	T	0.47528	0.84	4.76	4.76	0.60689	.	0.214881	0.39210	N	0.001422	T	0.46444	0.1393	M	0.79693	2.465	0.21290	N	0.999733	B	0.17852	0.024	B	0.19666	0.026	T	0.35895	-0.9770	10	0.23302	T	0.38	-2.7662	7.7478	0.28879	0.1866:0.0:0.0:0.8134	.	48	P17568	NDUB7_HUMAN	G	48	ENSP00000215565:D48G	ENSP00000215565:D48G	D	-	2	0	NDUFB7	14538715	0.411000	0.25384	0.133000	0.22050	0.045000	0.14185	3.456000	0.53000	2.003000	0.58678	0.477000	0.44152	GAC	.	.		0.657	NDUFB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466025.1	NM_004146	
AKAP8	10270	hgsc.bcm.edu	37	19	15485443	15485443	+	Missense_Mutation	SNP	G	G	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr19:15485443G>A	ENST00000269701.2	-	3	122	c.62C>T	c.(61-63)gCa>gTa	p.A21V		NM_005858.3	NP_005849.1	O43823	AKAP8_HUMAN	A kinase (PRKA) anchor protein 8	21					mitotic chromosome condensation (GO:0007076)|mitotic nuclear division (GO:0007067)|signal transduction (GO:0007165)	condensed chromosome (GO:0000793)|female pronucleus (GO:0001939)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						AGTTCCATATGCACCTTAGGG	0.617																																					p.A21V	GBM(190;1671 2163 3274 27186 30476)	Atlas-SNP	.											.	AKAP8	68	.	0			c.C62T						.						100.0	89.0	93.0					19																	15485443		2203	4300	6503	SO:0001583	missense	10270	exon3			CCATATGCACCTT	Y11997	CCDS12329.1	19p13.12	2012-05-16			ENSG00000105127	ENSG00000105127		"""A-kinase anchor proteins"""	378	protein-coding gene	gene with protein product	"""A-kinase anchor protein, 95kDa"""	604692				9473338	Standard	NM_005858		Approved	AKAP95, DKFZp586B1222	uc002nav.3	O43823		ENST00000269701.2:c.62C>T	chr19.hg19:g.15485443G>A	ENSP00000269701:p.Ala21Val	177.0	0.0		94.0	5.0	NM_005858		Missense_Mutation	SNP	ENST00000269701.2	hg19	CCDS12329.1	.	.	.	.	.	.	.	.	.	.	G	14.74	2.626450	0.46840	.	.	ENSG00000105127	ENST00000269701	T	0.47869	0.83	5.42	5.42	0.78866	.	0.392722	0.21585	N	0.072187	T	0.42517	0.1206	L	0.44542	1.39	0.80722	D	1	B	0.32573	0.376	B	0.30401	0.115	T	0.35151	-0.9800	10	0.45353	T	0.12	-8.3054	16.1296	0.81418	0.0:0.0:1.0:0.0	.	21	O43823	AKAP8_HUMAN	V	21	ENSP00000269701:A21V	ENSP00000269701:A21V	A	-	2	0	AKAP8	15346443	0.977000	0.34250	0.974000	0.42286	0.350000	0.29205	5.244000	0.65400	2.537000	0.85549	0.563000	0.77884	GCA	.	.		0.617	AKAP8-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461293.3	NM_005858	
MRPL34	64981	hgsc.bcm.edu	37	19	17416718	17416718	+	Missense_Mutation	SNP	G	G	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr19:17416718G>T	ENST00000252602.1	+	1	242	c.17G>T	c.(16-18)gGa>gTa	p.G6V	MRPL34_ENST00000595444.1_Missense_Mutation_p.G98V|MRPL34_ENST00000600434.1_Missense_Mutation_p.G6V|ABHD8_ENST00000247706.3_5'Flank|MRPL34_ENST00000594999.1_Missense_Mutation_p.G6V|MRPL34_ENST00000602206.1_Missense_Mutation_p.G6V	NM_023937.3	NP_076426.1	Q9BQ48	RM34_HUMAN	mitochondrial ribosomal protein L34	6					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)	structural constituent of ribosome (GO:0003735)			endometrium(1)|lung(1)	2						GTCTTGGCTGGATCCCTGTTG	0.632																																					p.G6V		Atlas-SNP	.											.	MRPL34	5	.	0			c.G17T						.						52.0	56.0	55.0					19																	17416718		2203	4300	6503	SO:0001583	missense	64981	exon1			TGGCTGGATCCCT	AB049652	CCDS12356.1	19p13.1	2012-09-13						"""Mitochondrial ribosomal proteins / large subunits"""	14488	protein-coding gene	gene with protein product		611840				11543634	Standard	NM_023937		Approved	L34mt, MGC2633, MGC24974	uc002ngc.1	Q9BQ48		ENST00000252602.1:c.17G>T	chr19.hg19:g.17416718G>T	ENSP00000252602:p.Gly6Val	169.0	0.0		93.0	4.0	NM_023937		Missense_Mutation	SNP	ENST00000252602.1	hg19	CCDS12356.1	.	.	.	.	.	.	.	.	.	.	G	13.65	2.301430	0.40694	.	.	ENSG00000130312	ENST00000252602	.	.	.	3.22	3.22	0.36961	.	0.552270	0.17337	N	0.177898	T	0.41351	0.1155	.	.	.	0.09310	N	0.999996	P	0.47106	0.89	P	0.47299	0.543	T	0.24799	-1.0150	8	0.54805	T	0.06	-15.7287	10.2199	0.43190	0.0:0.0:1.0:0.0	.	6	Q9BQ48	RM34_HUMAN	V	6	.	ENSP00000252602:G6V	G	+	2	0	MRPL34	17277718	0.004000	0.15560	0.005000	0.12908	0.028000	0.11728	1.490000	0.35573	2.117000	0.64856	0.561000	0.74099	GGA	.	.		0.632	MRPL34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463516.1	NM_023937	
KIAA1683	80726	hgsc.bcm.edu	37	19	18376583	18376583	+	Silent	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr19:18376583T>C	ENST00000600328.3	-	3	1960	c.1767A>G	c.(1765-1767)ggA>ggG	p.G589G	KIAA1683_ENST00000392413.4_Silent_p.G589G|KIAA1683_ENST00000600359.3_Silent_p.G543G			Q9H0B3	K1683_HUMAN	KIAA1683	589						mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						GGACCCCAGTTCCCGGATGTG	0.552																																					p.G589G		Atlas-SNP	.											.	KIAA1683	190	.	0			c.A1767G						.						42.0	42.0	42.0					19																	18376583		2203	4299	6502	SO:0001819	synonymous_variant	80726	exon3			CCCAGTTCCCGGA	AB051470	CCDS32958.1, CCDS46017.1, CCDS46018.1	19p13.1	2008-02-05				ENSG00000130518			29350	protein-coding gene	gene with protein product						11214970, 11230166	Standard	NM_025249		Approved		uc010ebn.2	Q9H0B3		ENST00000600328.3:c.1767A>G	chr19.hg19:g.18376583T>C		101.0	0.0		79.0	5.0	NM_001145304	B4DYH2|E9PDE0|E9PH54|Q2KHR5|Q8N4G8|Q96M14|Q9C0I0	Silent	SNP	ENST00000600328.3	hg19	CCDS32958.1																																																																																			.	.		0.552	KIAA1683-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466312.3		
SUGP2	10147	hgsc.bcm.edu	37	19	19129923	19129923	+	Silent	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr19:19129923A>G	ENST00000601879.1	-	4	2142	c.1845T>C	c.(1843-1845)gcT>gcC	p.A615A	SUGP2_ENST00000600377.1_Silent_p.A629A|SUGP2_ENST00000337018.6_Silent_p.A615A|SUGP2_ENST00000456085.2_Silent_p.A384A|SUGP2_ENST00000452918.2_Silent_p.A615A			Q8IX01	SUGP2_HUMAN	SURP and G patch domain containing 2	615					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						CCTACCAGTAAGCAGGGTCCT	0.488																																					p.A615A		Atlas-SNP	.											.	SUGP2	107	.	0			c.T1845C						.						103.0	94.0	97.0					19																	19129923		2203	4300	6503	SO:0001819	synonymous_variant	10147	exon4			CCAGTAAGCAGGG	AB002363	CCDS12392.1	19p13	2013-01-28	2010-08-10	2010-08-10	ENSG00000064607	ENSG00000064607		"""G patch domain containing"""	18641	protein-coding gene	gene with protein product		607993	"""splicing factor, arginine/serine-rich 14"""	SFRS14		12594045	Standard	NM_014884		Approved	KIAA0365	uc002nkx.2	Q8IX01		ENST00000601879.1:c.1845T>C	chr19.hg19:g.19129923A>G		139.0	0.0		83.0	4.0	NM_014884	C9JI71|O15071|O60369|Q5JPH7|Q8WUF7	Silent	SNP	ENST00000601879.1	hg19	CCDS12392.1																																																																																			.	.		0.488	SUGP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464627.1	NM_001017392	
ZNF90	7643	hgsc.bcm.edu	37	19	20229869	20229869	+	Silent	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr19:20229869T>C	ENST00000418063.2	+	4	1618	c.1506T>C	c.(1504-1506)atT>atC	p.I502I	ZNF90_ENST00000474284.1_Intron	NM_007138.1	NP_009069.1	Q03938	ZNF90_HUMAN	zinc finger protein 90	502					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.I502I(1)		breast(1)|lung(2)|ovary(1)|skin(1)	5						ATAAGATAATTCACAGTGGAG	0.398																																					p.I502I		Atlas-SNP	.											ZNF90_ENST00000418063,NS,carcinoma,0,1	ZNF90	93	.	1	Substitution - coding silent(1)	endometrium(1)	c.T1506C						.						61.0	58.0	59.0					19																	20229869		692	1591	2283	SO:0001819	synonymous_variant	7643	exon4			GATAATTCACAGT	M61870	CCDS46028.1	19p12	2013-01-08	2006-02-01		ENSG00000213988	ENSG00000213988		"""Zinc fingers, C2H2-type"", ""-"""	13165	protein-coding gene	gene with protein product		603973	"""zinc finger protein 90 (HTF9)"""			8467795	Standard	NM_007138		Approved	HTF9	uc002nor.2	Q03938	OTTHUMG00000158057	ENST00000418063.2:c.1506T>C	chr19.hg19:g.20229869T>C		74.0	0.0		56.0	4.0	NM_007138	B9EH87	Silent	SNP	ENST00000418063.2	hg19	CCDS46028.1																																																																																			.	.		0.398	ZNF90-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350101.1	NM_007138	
ZNF208	7757	hgsc.bcm.edu	37	19	22157552	22157552	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr19:22157552A>G	ENST00000397126.4	-	4	432	c.284T>C	c.(283-285)tTc>tCc	p.F95S	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Missense_Mutation_p.F95S	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	95					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				CACTTTTTGGAAAGAATCTTC	0.328																																					p.F95S		Atlas-SNP	.											.	ZNF208	817	.	0			c.T284C						.						41.0	40.0	40.0					19																	22157552		2042	4240	6282	SO:0001583	missense	7757	exon4			TTTTGGAAAGAAT	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.284T>C	chr19.hg19:g.22157552A>G	ENSP00000380315:p.Phe95Ser	198.0	0.0		123.0	6.0	NM_007153		Missense_Mutation	SNP	ENST00000397126.4	hg19	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	A	9.324	1.058833	0.19987	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.07444	3.19	0.77	0.77	0.18497	.	.	.	.	.	T	0.10766	0.0263	.	.	.	0.09310	N	1	D;P	0.71674	0.998;0.729	P;B	0.59115	0.852;0.439	T	0.29458	-1.0011	8	0.16420	T	0.52	.	3.9499	0.09364	1.0:0.0:0.0:0.0	.	95;95	O43345;F8WEA0	ZN208_HUMAN;.	S	95	ENSP00000380315:F95S	ENSP00000380315:F95S	F	-	2	0	ZNF208	21949392	0.000000	0.05858	0.018000	0.16275	0.530000	0.34684	0.035000	0.13797	0.647000	0.30713	0.246000	0.17985	TTC	.	.		0.328	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153	
ZNF728	388523	hgsc.bcm.edu	37	19	23159603	23159603	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr19:23159603A>G	ENST00000594710.1	-	4	681	c.536T>C	c.(535-537)gTc>gCc	p.V179A		NM_001267716.1	NP_001254645.1	P0DKX0	ZN728_HUMAN	zinc finger protein 728	179					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)										AAATGATCTGACATATTCTTT	0.313																																					p.V179A		Atlas-SNP	.											.	.	.	.	0			c.T536C						.																																			SO:0001583	missense	388523	exon4			GATCTGACATATT	BC128130	CCDS59370.1	19p12	2014-02-14			ENSG00000269067	ENSG00000269067		"""Zinc fingers, C2H2-type"", ""-"""	32463	protein-coding gene	gene with protein product							Standard	NM_001267716		Approved		uc002nqz.2	P0DKX0	OTTHUMG00000183124	ENST00000594710.1:c.536T>C	chr19.hg19:g.23159603A>G	ENSP00000471593:p.Val179Ala	198.0	0.0		133.0	6.0	NM_001267716		Missense_Mutation	SNP	ENST00000594710.1	hg19	CCDS59370.1																																																																																			.	.		0.313	ZNF728-001	NOVEL	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465176.1	NM_001267716	
WDR88	126248	hgsc.bcm.edu	37	19	33623281	33623281	+	Missense_Mutation	SNP	C	C	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr19:33623281C>T	ENST00000355868.3	+	1	282	c.206C>T	c.(205-207)cCg>cTg	p.P69L	WDR88_ENST00000361680.2_Missense_Mutation_p.P69L|WDR88_ENST00000592765.1_Missense_Mutation_p.P69L	NM_173479.3	NP_775750.3	Q6ZMY6	WDR88_HUMAN	WD repeat domain 88	69										breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25	Esophageal squamous(110;0.137)					GAACCACCACCGCATCTGTTG	0.657																																					p.P69L		Atlas-SNP	.											.	WDR88	50	.	0			c.C206T						.						77.0	77.0	77.0					19																	33623281		2203	4300	6503	SO:0001583	missense	126248	exon1			CACCACCGCATCT	BC031227	CCDS12429.1	19q13.11	2013-01-09	2007-04-04	2007-04-04		ENSG00000166359		"""WD repeat domain containing"""	26999	protein-coding gene	gene with protein product			"""PQQ repeat and WD repeat domain containing"""	PQWD		12477932	Standard	NM_173479		Approved		uc002nui.3	Q6ZMY6		ENST00000355868.3:c.206C>T	chr19.hg19:g.33623281C>T	ENSP00000348129:p.Pro69Leu	105.0	0.0		82.0	4.0	NM_173479	Q8NEF8	Missense_Mutation	SNP	ENST00000355868.3	hg19	CCDS12429.1	.	.	.	.	.	.	.	.	.	.	C	0.019	-1.457517	0.01071	.	.	ENSG00000166359	ENST00000355868;ENST00000361680	T;T	0.60548	0.49;0.18	1.21	-2.42	0.06542	.	3.784440	0.00859	N	0.001911	T	0.36054	0.0953	L	0.27053	0.805	0.09310	N	1	D	0.57571	0.98	B	0.34873	0.191	T	0.39702	-0.9601	10	0.56958	D	0.05	.	2.5246	0.04688	0.2239:0.4276:0.0:0.3485	.	69	Q6ZMY6	WDR88_HUMAN	L	69	ENSP00000348129:P69L;ENSP00000355148:P69L	ENSP00000348129:P69L	P	+	2	0	WDR88	38315121	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.544000	0.00933	-1.063000	0.03177	-2.210000	0.00300	CCG	.	.		0.657	WDR88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450840.1	NM_173479	
LSR	51599	hgsc.bcm.edu	37	19	35758316	35758316	+	Silent	SNP	G	G	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr19:35758316G>A	ENST00000361790.3	+	9	1752	c.1593G>A	c.(1591-1593)cgG>cgA	p.R531R	LSR_ENST00000347609.4_Silent_p.R473R|LSR_ENST00000602122.1_Silent_p.R511R|LSR_ENST00000354900.3_Silent_p.R512R|USF2_ENST00000343550.5_5'Flank|USF2_ENST00000595068.1_5'Flank|LSR_ENST00000427250.1_Silent_p.R375R|USF2_ENST00000379134.3_5'Flank|USF2_ENST00000222305.3_5'Flank|LSR_ENST00000360798.3_Silent_p.R463R|AD000684.2_ENST00000602262.1_RNA|USF2_ENST00000594064.1_5'Flank	NM_205834.3	NP_991403.1	Q86X29	LSR_HUMAN	lipolysis stimulated lipoprotein receptor	531					embryo development (GO:0009790)|liver development (GO:0001889)	chylomicron (GO:0042627)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|low-density lipoprotein particle (GO:0034362)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GCCGCAGCCGGGACGACCTCT	0.687																																					p.R531R		Atlas-SNP	.											.	LSR	60	.	0			c.G1593A						.						14.0	21.0	19.0					19																	35758316		2169	4240	6409	SO:0001819	synonymous_variant	51599	exon9			CAGCCGGGACGAC	AF130366	CCDS12449.1, CCDS12450.1, CCDS12451.1, CCDS59376.1	19q13.12	2013-01-11			ENSG00000105699	ENSG00000105699		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29572	protein-coding gene	gene with protein product	"""lipolysis-stimulated remnant"", ""immunoglobulin-like domain containing receptor 3"""					10224102	Standard	NM_015925		Approved	LISCH7, ILDR3	uc002nyl.3	Q86X29		ENST00000361790.3:c.1593G>A	chr19.hg19:g.35758316G>A		55.0	0.0		44.0	4.0	NM_205834	A6NDW3|B4DKL4|E9PHD4|O00112|O00426|Q6ZT80|Q8NBM0|Q9BT33|Q9UQL3	Silent	SNP	ENST00000361790.3	hg19	CCDS12450.1																																																																																			.	.		0.687	LSR-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465513.2	NM_015925	
DMKN	93099	hgsc.bcm.edu	37	19	36002356	36002356	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr19:36002356T>C	ENST00000339686.3	-	5	1051	c.875A>G	c.(874-876)aAc>aGc	p.N292S	DMKN_ENST00000392206.2_5'Flank|DMKN_ENST00000429837.1_Intron|DMKN_ENST00000414866.2_5'Flank|DMKN_ENST00000467637.1_5'Flank|DMKN_ENST00000419602.1_Intron|DMKN_ENST00000461300.1_5'Flank|DMKN_ENST00000443640.1_5'Flank|DMKN_ENST00000492341.2_5'Flank|DMKN_ENST00000436012.1_5'Flank|DMKN_ENST00000488892.1_5'Flank|DMKN_ENST00000418261.1_Missense_Mutation_p.N292S|DMKN_ENST00000480502.1_5'Flank|DMKN_ENST00000424570.2_Missense_Mutation_p.N292S|DMKN_ENST00000458071.1_5'Flank|DMKN_ENST00000447113.2_Missense_Mutation_p.N292S|DMKN_ENST00000462126.1_5'Flank|DMKN_ENST00000440396.1_Missense_Mutation_p.N292S|DMKN_ENST00000472252.2_5'Flank|DMKN_ENST00000451297.2_Missense_Mutation_p.N292S|DMKN_ENST00000474928.1_5'Flank|DMKN_ENST00000602781.1_5'Flank|DMKN_ENST00000402589.2_5'Flank	NM_033317.4	NP_201574	Q6E0U4	DMKN_HUMAN	dermokine	292	Gly-rich.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2)	27	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)			gccaccactgttgccactgct	0.627																																					p.N292S		Atlas-SNP	.											.,2	DMKN	116	.	0			c.A875G						.						33.0	27.0	29.0					19																	36002356		2199	4293	6492	SO:0001583	missense	93099	exon5			CCACTGTTGCCAC	BC035311	CCDS12463.1, CCDS42549.1, CCDS46051.1, CCDS46052.1, CCDS46053.1, CCDS46054.1, CCDS46054.2, CCDS54250.1, CCDS54251.1, CCDS54252.1	19q13.12	2008-10-27			ENSG00000161249	ENSG00000161249			25063	protein-coding gene	gene with protein product						16374476	Standard	NM_001035516		Approved	ZD52F10	uc002nzm.4	Q6E0U4	OTTHUMG00000048101	ENST00000339686.3:c.875A>G	chr19.hg19:g.36002356T>C	ENSP00000342012:p.Asn292Ser	92.0	1.0		73.0	4.0	NM_001126058	A3EZ79|A3EZ80|A3EZ81|A3EZ82|A3EZ83|C9J4P6|C9J5N8|C9JAL3|Q32W58|Q32W62|Q32W63|Q32W64|Q32W65|Q32W66|Q32W67|Q6E0U5|Q6UXC7|Q96EW8|Q9BSY6	Missense_Mutation	SNP	ENST00000339686.3	hg19	CCDS12463.1	.	.	.	.	.	.	.	.	.	.	T	0.299	-0.974956	0.02215	.	.	ENSG00000161249	ENST00000339686;ENST00000392207;ENST00000447113;ENST00000440396;ENST00000418261;ENST00000424570;ENST00000451297	T;T;T;T;T;T	0.22336	2.35;1.96;1.99;2.03;1.98;2.29	3.3	-1.48	0.08745	.	1.889910	0.02733	N	0.115301	T	0.07143	0.0181	N	0.01576	-0.805	0.09310	N	1	B;B;B;B;B	0.10296	0.003;0.003;0.003;0.003;0.001	B;B;B;B;B	0.10450	0.005;0.005;0.005;0.005;0.003	T	0.30327	-0.9982	10	0.07990	T	0.79	13.9526	6.6897	0.23163	0.0:0.478:0.0:0.522	.	292;292;292;292;292	E7EUS0;Q6E0U4-7;Q6E0U4-3;Q6E0U4-5;Q6E0U4	.;.;.;.;DMKN_HUMAN	S	292	ENSP00000342012:N292S;ENSP00000394908:N292S;ENSP00000415277:N292S;ENSP00000414743:N292S;ENSP00000388404:N292S;ENSP00000409513:N292S	ENSP00000342012:N292S	N	-	2	0	DMKN	40694196	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.842000	0.04354	-0.247000	0.09597	0.260000	0.18958	AAC	.	.		0.627	DMKN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109461.2	NM_033317	
KMT2B	9757	hgsc.bcm.edu	37	19	36222960	36222960	+	Silent	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr19:36222960T>C	ENST00000222270.7	+	27	5589	c.5589T>C	c.(5587-5589)gcT>gcC	p.A1863A	KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_Silent_p.A1863A	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	1863					chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										TTTCGGGGGCTCGAATCAAAG	0.662																																					p.A1863A		Atlas-SNP	.											.	MLL4	229	.	0			c.T5589C						.						20.0	22.0	21.0					19																	36222960		1889	4097	5986	SO:0001819	synonymous_variant	8085	exon27			GGGGGCTCGAATC	AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"""Chromatin-modifying enzymes / K-methyltransferases"""	15840	protein-coding gene	gene with protein product	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"""	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.5589T>C	chr19.hg19:g.36222960T>C		59.0	0.0		45.0	4.0	NM_014727	O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Silent	SNP	ENST00000222270.7	hg19	CCDS46055.1																																																																																			.	.		0.662	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014727	
APLP1	333	hgsc.bcm.edu	37	19	36368656	36368656	+	Missense_Mutation	SNP	A	A	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr19:36368656A>T	ENST00000221891.4	+	12	1673	c.1481A>T	c.(1480-1482)gAa>gTa	p.E494V	APLP1_ENST00000589298.2_3'UTR|APLP1_ENST00000586861.1_Missense_Mutation_p.E488V|APLP1_ENST00000537454.2_Missense_Mutation_p.E455V	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	494					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular response to norepinephrine stimulus (GO:0071874)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|mRNA polyadenylation (GO:0006378)|negative regulation of cAMP biosynthetic process (GO:0030818)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|regulation of translation (GO:0006417)	basement membrane (GO:0005604)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|alpha-2B adrenergic receptor binding (GO:0031695)|alpha-2C adrenergic receptor binding (GO:0031696)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|transition metal ion binding (GO:0046914)			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GGTCCCAGTGAATTGGAAGCC	0.597																																					p.E494V		Atlas-SNP	.											.	APLP1	77	.	0			c.A1481T						.						80.0	74.0	76.0					19																	36368656		2203	4300	6503	SO:0001583	missense	333	exon12			CCAGTGAATTGGA	U48437	CCDS32997.1	19q	2008-07-15							597	protein-coding gene	gene with protein product	"""amyloid-like protein 1"", ""amyloid precursor-like protein 1"""	104775				8432545	Standard	NM_001024807		Approved	APLP	uc002ocf.3	P51693		ENST00000221891.4:c.1481A>T	chr19.hg19:g.36368656A>T	ENSP00000221891:p.Glu494Val	68.0	0.0		75.0	4.0	NM_005166	O00113|Q96A92	Missense_Mutation	SNP	ENST00000221891.4	hg19	CCDS32997.1	.	.	.	.	.	.	.	.	.	.	A	12.64	1.999663	0.35320	.	.	ENSG00000105290	ENST00000537454;ENST00000221891	D;D	0.94862	-3.45;-3.54	5.3	4.22	0.49857	.	0.853808	0.09831	N	0.750239	D	0.89121	0.6625	N	0.14661	0.345	0.28750	N	0.901508	B;B;P;B	0.35844	0.005;0.448;0.524;0.221	B;B;B;B	0.39379	0.002;0.298;0.094;0.043	D	0.83712	0.0188	10	0.48119	T	0.1	-0.4882	8.0386	0.30508	0.8193:0.0:0.0:0.1806	.	488;455;494;494	B7Z4G8;F5GZ08;P51693-2;P51693	.;.;.;APLP1_HUMAN	V	455;494	ENSP00000441501:E455V;ENSP00000221891:E494V	ENSP00000221891:E494V	E	+	2	0	APLP1	41060496	0.994000	0.37717	0.832000	0.32986	0.852000	0.48524	2.459000	0.45023	2.157000	0.67596	0.533000	0.62120	GAA	.	.		0.597	APLP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452564.1	NM_001024807	
ZFP14	57677	hgsc.bcm.edu	37	19	36853129	36853129	+	Silent	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr19:36853129T>C	ENST00000270001.7	-	3	136	c.21A>G	c.(19-21)acA>acG	p.T7T	ZFP14_ENST00000589280.1_Silent_p.T7T	NM_020917.2	NP_065968.1	Q9HCL3	ZFP14_HUMAN	ZFP14 zinc finger protein	7	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)	p.T7T(1)		NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	26	Esophageal squamous(110;0.162)					CATCCCTGAATGTCACTGAAC	0.403																																					p.T7T		Atlas-SNP	.											ZFP14,NS,carcinoma,0,1	ZFP14	68	.	1	Substitution - coding silent(1)	lung(1)	c.A21G						.						86.0	82.0	83.0					19																	36853129		2203	4300	6503	SO:0001819	synonymous_variant	57677	exon3			CCTGAATGTCACT	AB046779	CCDS33002.1	19q13.13	2013-01-08	2012-11-27			ENSG00000142065		"""Zinc fingers, C2H2-type"", ""-"""	29312	protein-coding gene	gene with protein product			"""zinc finger protein 14 homolog (mouse)"""			10997877	Standard	NM_020917		Approved	KIAA1559, ZNF531	uc010eex.2	Q9HCL3		ENST00000270001.7:c.21A>G	chr19.hg19:g.36853129T>C		123.0	0.0		66.0	4.0	NM_020917	A7MD23	Silent	SNP	ENST00000270001.7	hg19	CCDS33002.1																																																																																			.	.		0.403	ZFP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452528.1	NM_020917	
ZNF567	163081	hgsc.bcm.edu	37	19	37210227	37210227	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr19:37210227C>T	ENST00000536254.2	+	6	823	c.601C>T	c.(601-603)Cag>Tag	p.Q201*	ZNF567_ENST00000360729.4_Nonsense_Mutation_p.Q170*|ZNF850_ENST00000589390.1_Intron|ZNF567_ENST00000588311.1_Nonsense_Mutation_p.Q170*|ZNF567_ENST00000392163.2_Nonsense_Mutation_p.Q170*|ZNF567_ENST00000585696.1_Nonsense_Mutation_p.Q170*			Q8N184	ZN567_HUMAN	zinc finger protein 567	201					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			TATGCAGTATCAGAAAACGGA	0.398																																					p.Q170X		Atlas-SNP	.											.	ZNF567	61	.	0			c.C508T						.						47.0	46.0	46.0					19																	37210227		2203	4300	6503	SO:0001587	stop_gained	163081	exon4			CAGTATCAGAAAA	AK093034	CCDS12495.1, CCDS74349.1	19q13.12	2013-10-08				ENSG00000189042		"""Zinc fingers, C2H2-type"", ""-"""	28696	protein-coding gene	gene with protein product						12477932	Standard	XM_006723064		Approved	MGC45586	uc002oep.4	Q8N184		ENST00000536254.2:c.601C>T	chr19.hg19:g.37210227C>T	ENSP00000441838:p.Gln201*	136.0	0.0		78.0	4.0	NM_152603	B3KX49|Q6N044	Nonsense_Mutation	SNP	ENST00000536254.2	hg19		.	.	.	.	.	.	.	.	.	.	C	16.98	3.270836	0.59540	.	.	ENSG00000189042	ENST00000536254;ENST00000378686;ENST00000360729;ENST00000423498;ENST00000392163	.	.	.	4.16	3.1	0.35709	.	0.324668	0.22594	N	0.058050	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	12.4841	0.55861	0.0:0.8306:0.1694:0.0	.	.	.	.	X	201;201;170;200;170	.	ENSP00000353957:Q170X	Q	+	1	0	ZNF567	41902067	0.001000	0.12720	0.873000	0.34254	0.619000	0.37552	0.105000	0.15333	1.315000	0.45114	0.462000	0.41574	CAG	.	.		0.398	ZNF567-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000453549.1	NM_152603	
ZNF790	388536	hgsc.bcm.edu	37	19	37309733	37309733	+	Missense_Mutation	SNP	G	G	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr19:37309733G>T	ENST00000356725.4	-	5	1633	c.1513C>A	c.(1513-1515)Cca>Aca	p.P505T	CTD-2162K18.5_ENST00000587278.1_RNA|CTD-2162K18.5_ENST00000588906.1_RNA	NM_001242802.1|NM_206894.3	NP_001229731.1|NP_996777.2	Q6PG37	ZN790_HUMAN	zinc finger protein 790	505					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)			biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	32	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			CATTCATATGGCCTCTTTCCA	0.398																																					p.P505T		Atlas-SNP	.											.	ZNF790	89	.	0			c.C1513A						.						109.0	102.0	104.0					19																	37309733		2203	4300	6503	SO:0001583	missense	388536	exon5			CATATGGCCTCTT	BC057245	CCDS12496.1	19q13.12	2013-01-08			ENSG00000197863	ENSG00000197863		"""Zinc fingers, C2H2-type"", ""-"""	33114	protein-coding gene	gene with protein product							Standard	NM_206894		Approved	MGC62100, FLJ20350	uc021utm.1	Q6PG37	OTTHUMG00000165616	ENST00000356725.4:c.1513C>A	chr19.hg19:g.37309733G>T	ENSP00000349161:p.Pro505Thr	125.0	0.0		71.0	4.0	NM_206894		Missense_Mutation	SNP	ENST00000356725.4	hg19	CCDS12496.1	.	.	.	.	.	.	.	.	.	.	G	12.01	1.808396	0.31961	.	.	ENSG00000197863	ENST00000356725	T	0.16897	2.31	3.04	-0.911	0.10507	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.22551	0.0544	M	0.82056	2.57	0.29696	N	0.840516	B	0.26041	0.14	B	0.34180	0.177	T	0.36311	-0.9753	9	0.87932	D	0	.	4.88	0.13674	0.1151:0.0:0.5212:0.3638	.	505	Q6PG37	ZN790_HUMAN	T	505	ENSP00000349161:P505T	ENSP00000349161:P505T	P	-	1	0	ZNF790	42001573	1.000000	0.71417	0.004000	0.12327	0.433000	0.31745	4.187000	0.58344	-0.218000	0.10018	-0.500000	0.04577	CCA	.	.		0.398	ZNF790-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385341.2	NM_206894	
ZNF420	147923	hgsc.bcm.edu	37	19	37619072	37619072	+	Nonsense_Mutation	SNP	T	T	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr19:37619072T>A	ENST00000337995.3	+	5	1394	c.1179T>A	c.(1177-1179)tgT>tgA	p.C393*	ZNF585A_ENST00000588723.1_Intron|ZNF420_ENST00000304239.7_Nonsense_Mutation_p.C393*|CTC-454I21.4_ENST00000587645.1_RNA	NM_144689.3	NP_653290.2	Q8TAQ5	ZN420_HUMAN	zinc finger protein 420	393					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CCTATGAATGTAAGGAATGTG	0.398																																					p.C393X		Atlas-SNP	.											.	ZNF420	71	.	0			c.T1179A						.						87.0	89.0	88.0					19																	37619072		2203	4300	6503	SO:0001587	stop_gained	147923	exon5			TGAATGTAAGGAA	AK056695	CCDS12498.1	19q13.12	2013-01-08			ENSG00000197050	ENSG00000197050		"""Zinc fingers, C2H2-type"", ""-"""	20649	protein-coding gene	gene with protein product							Standard	NM_144689		Approved	FLJ32191	uc002ofl.3	Q8TAQ5	OTTHUMG00000048168	ENST00000337995.3:c.1179T>A	chr19.hg19:g.37619072T>A	ENSP00000338770:p.Cys393*	146.0	0.0		98.0	4.0	NM_144689	B2RDY6|Q96ML5	Nonsense_Mutation	SNP	ENST00000337995.3	hg19	CCDS12498.1	.	.	.	.	.	.	.	.	.	.	T	36	5.828513	0.96996	.	.	ENSG00000197050	ENST00000304239;ENST00000337995	.	.	.	4.24	3.19	0.36642	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.2498	0.26142	0.0:0.1807:0.0:0.8193	.	.	.	.	X	393	.	ENSP00000306102:C393X	C	+	3	2	ZNF420	42310912	0.001000	0.12720	1.000000	0.80357	0.995000	0.86356	-0.186000	0.09670	1.780000	0.52325	0.533000	0.62120	TGT	.	.		0.398	ZNF420-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109587.3	NM_144689	
ZNF569	148266	hgsc.bcm.edu	37	19	37905051	37905051	+	Missense_Mutation	SNP	G	G	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr19:37905051G>T	ENST00000316950.6	-	6	1066	c.509C>A	c.(508-510)cCt>cAt	p.P170H	ZNF569_ENST00000392150.2_Missense_Mutation_p.P11H|ZNF569_ENST00000392149.2_Missense_Mutation_p.P170H	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	170					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGATTTCACAGGTTCATTATA	0.338																																					p.P170H		Atlas-SNP	.											.	ZNF569	101	.	0			c.C509A						.						86.0	84.0	85.0					19																	37905051		2203	4300	6503	SO:0001583	missense	148266	exon6			TTCACAGGTTCAT	AL833408	CCDS12503.1	19q13.12	2013-09-20			ENSG00000196437	ENSG00000196437		"""Zinc fingers, C2H2-type"", ""-"""	24737	protein-coding gene	gene with protein product		613904				12477932	Standard	NM_152484		Approved	FLJ32053, ZAP1	uc002ogi.3	Q5MCW4	OTTHUMG00000048172	ENST00000316950.6:c.509C>A	chr19.hg19:g.37905051G>T	ENSP00000325018:p.Pro170His	130.0	0.0		82.0	4.0	NM_152484	A8K1S2|Q15925|Q17RR6|Q96MQ2	Missense_Mutation	SNP	ENST00000316950.6	hg19	CCDS12503.1	.	.	.	.	.	.	.	.	.	.	G	0.029	-1.344691	0.01277	.	.	ENSG00000196437	ENST00000316950;ENST00000392150	T;T	0.09163	3.24;3.01	3.11	2.06	0.26882	.	0.573207	0.13626	N	0.374075	T	0.06280	0.0162	N	0.14661	0.345	0.09310	N	1	B;B	0.31519	0.327;0.118	B;B	0.28232	0.087;0.053	T	0.32613	-0.9900	10	0.66056	D	0.02	.	8.3047	0.32036	0.1259:0.0:0.8741:0.0	.	11;170	Q17RR6;Q5MCW4	.;ZN569_HUMAN	H	170;11	ENSP00000325018:P170H;ENSP00000375993:P11H	ENSP00000325018:P170H	P	-	2	0	ZNF569	42596891	0.000000	0.05858	0.002000	0.10522	0.712000	0.41017	0.380000	0.20602	0.874000	0.35823	0.591000	0.81541	CCT	.	.		0.338	ZNF569-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109594.2	NM_152484	
SIPA1L3	23094	hgsc.bcm.edu	37	19	38633306	38633306	+	Silent	SNP	C	C	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr19:38633306C>T	ENST00000222345.6	+	12	3998	c.3489C>T	c.(3487-3489)acC>acT	p.T1163T		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	1163					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GCTTCTCCACCCCCGGTTCGG	0.557											OREG0025445	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.T1163T		Atlas-SNP	.											.	SIPA1L3	150	.	0			c.C3489T						.						185.0	179.0	181.0					19																	38633306		2203	4300	6503	SO:0001819	synonymous_variant	23094	exon12			CTCCACCCCCGGT	AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.3489C>T	chr19.hg19:g.38633306C>T		87.0	0.0	879	69.0	4.0	NM_015073	Q2TV87	Silent	SNP	ENST00000222345.6	hg19	CCDS33007.1																																																																																			.	.		0.557	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	XM_032278	
MAP4K1	11184	hgsc.bcm.edu	37	19	39111009	39111009	+	5'Flank	SNP	G	G	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr19:39111009G>T	ENST00000591517.1	-	0	0				EIF3K_ENST00000593062.1_3'UTR|EIF3K_ENST00000538434.1_Intron|MAP4K1_ENST00000589130.1_5'Flank|EIF3K_ENST00000545173.2_Missense_Mutation_p.R31L|EIF3K_ENST00000248342.4_Missense_Mutation_p.R31L|MAP4K1_ENST00000586296.1_5'Flank|EIF3K_ENST00000592558.1_Missense_Mutation_p.R31L|EIF3K_ENST00000593149.1_5'UTR|MAP4K1_ENST00000396857.2_5'Flank|EIF3K_ENST00000588934.1_Missense_Mutation_p.R31L	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1						activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|cell proliferation (GO:0008283)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to stress (GO:0006950)	membrane (GO:0016020)	ATP binding (GO:0005524)|MAP kinase kinase kinase kinase activity (GO:0008349)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			ACCCTGGAGCGCTATGTAGAG	0.517																																					p.R31L		Atlas-SNP	.											.	EIF3K	22	.	0			c.G92T						.						112.0	84.0	93.0					19																	39111009		2203	4300	6503	SO:0001631	upstream_gene_variant	27335	exon2			TGGAGCGCTATGT	U66464	CCDS42564.1, CCDS59385.1	19q13.1-q13.4	2011-06-09				ENSG00000104814	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6863	protein-coding gene	gene with protein product	"""hematopoietic progenitor kinase 1"""	601983				8824585	Standard	NM_001042600		Approved	HPK1	uc002oix.1	Q92918			chr19.hg19:g.39111009G>T	Exception_encountered	113.0	0.0		83.0	4.0	NM_013234		Missense_Mutation	SNP	ENST00000591517.1	hg19	CCDS59385.1	.	.	.	.	.	.	.	.	.	.	G	13.88	2.370098	0.42003	.	.	ENSG00000178982	ENST00000248342;ENST00000545173	.	.	.	4.45	4.45	0.53987	Translation initiation factor 3, subunit 12, N-terminal, eukaryotic (1);Armadillo-type fold (1);	0.062115	0.64402	D	0.000005	T	0.45856	0.1363	L	0.32530	0.975	0.58432	D	0.999997	B;B	0.16166	0.016;0.016	B;B	0.15484	0.013;0.008	T	0.48222	-0.9054	9	0.87932	D	0	-12.3368	11.1129	0.48243	0.0937:0.0:0.9063:0.0	.	31;31	B7ZAM9;Q9UBQ5	.;EIF3K_HUMAN	L	31	.	ENSP00000248342:R31L	R	+	2	0	EIF3K	43802849	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	6.017000	0.70805	2.386000	0.81285	0.563000	0.77884	CGC	.	.		0.517	MAP4K1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000453390.1	NM_001042600	
ADCK4	79934	hgsc.bcm.edu	37	19	41220243	41220243	+	Silent	SNP	C	C	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr19:41220243C>T	ENST00000324464.3	-	3	463	c.162G>A	c.(160-162)ctG>ctA	p.L54L	ADCK4_ENST00000450541.1_Silent_p.L54L|ADCK4_ENST00000243583.6_Silent_p.L54L|ITPKC_ENST00000263370.2_5'Flank	NM_024876.3	NP_079152.3	Q96D53	ADCK4_HUMAN	aarF domain containing kinase 4	54						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1)	17			Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)			CCTCCTCACCCAGGCCTCTCC	0.592																																					p.L54L		Atlas-SNP	.											.	ADCK4	92	.	0			c.G162A						.						63.0	67.0	66.0					19																	41220243		2203	4300	6503	SO:0001819	synonymous_variant	79934	exon3			CTCACCCAGGCCT	AK022291	CCDS12562.1, CCDS46081.1	19q13.2	2008-02-05				ENSG00000123815			19041	protein-coding gene	gene with protein product		615567					Standard	NM_024876		Approved	FLJ12229, COQ8	uc002oor.2	Q96D53		ENST00000324464.3:c.162G>A	chr19.hg19:g.41220243C>T		126.0	0.0		84.0	4.0	NM_001142555	Q8TAJ1|Q9HA52	Silent	SNP	ENST00000324464.3	hg19	CCDS12562.1																																																																																			.	.		0.592	ADCK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462731.1	NM_024876	
AXL	558	hgsc.bcm.edu	37	19	41762466	41762466	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr19:41762466A>G	ENST00000301178.4	+	18	2336	c.2146A>G	c.(2146-2148)Att>Gtt	p.I716V	AXL_ENST00000593513.1_Missense_Mutation_p.I448V|AXL_ENST00000359092.3_Missense_Mutation_p.I707V	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	716	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic cell clearance (GO:0043277)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to extracellular stimulus (GO:0031668)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interferon-alpha (GO:0035457)|cellular response to lipopolysaccharide (GO:0071222)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte homeostasis (GO:0034101)|forebrain cell migration (GO:0021885)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|natural killer cell differentiation (GO:0001779)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of tumor necrosis factor production (GO:0032720)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of protein kinase B signaling (GO:0051897)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|phosphatidylserine binding (GO:0001786)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						AGTCAAGTGGATTGCCATTGA	0.567																																					p.I716V		Atlas-SNP	.											.	AXL	126	.	0			c.A2146G						.						235.0	170.0	192.0					19																	41762466		2203	4300	6503	SO:0001583	missense	558	exon18			AAGTGGATTGCCA	M76125	CCDS12574.1, CCDS12575.1, CCDS62677.1	19q13.1	2013-02-11				ENSG00000167601	2.7.10.1	"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	905	protein-coding gene	gene with protein product		109135				1656220	Standard	NM_021913		Approved	UFO, JTK11	uc010ehj.3	P30530		ENST00000301178.4:c.2146A>G	chr19.hg19:g.41762466A>G	ENSP00000301178:p.Ile716Val	192.0	0.0		121.0	5.0	NM_021913	Q8N5L2|Q9UD27	Missense_Mutation	SNP	ENST00000301178.4	hg19	CCDS12575.1	.	.	.	.	.	.	.	.	.	.	A	19.72	3.880464	0.72294	.	.	ENSG00000167601	ENST00000301178;ENST00000359092	T;T	0.61980	0.06;0.06	4.49	4.49	0.54785	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.53610	0.1807	N	0.11154	0.105	0.34945	D	0.750694	D;P	0.54207	0.965;0.941	P;P	0.52646	0.662;0.705	T	0.69514	-0.5125	10	0.72032	D	0.01	-17.9022	13.1778	0.59637	1.0:0.0:0.0:0.0	.	707;716	P30530-2;P30530	.;UFO_HUMAN	V	716;707	ENSP00000301178:I716V;ENSP00000351995:I707V	ENSP00000301178:I716V	I	+	1	0	AXL	46454306	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.154000	0.77437	2.004000	0.58718	0.482000	0.46254	ATT	.	.		0.567	AXL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463323.2		
DEDD2	162989	hgsc.bcm.edu	37	19	42703669	42703669	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr19:42703669T>C	ENST00000595337.1	-	5	989	c.902A>G	c.(901-903)gAg>gGg	p.E301G	DEDD2_ENST00000593804.1_5'UTR|DEDD2_ENST00000336034.4_Missense_Mutation_p.E296G|DEDD2_ENST00000596251.1_Missense_Mutation_p.E301G	NM_001270614.1	NP_001257543.1	Q8WXF8	DEDD2_HUMAN	death effector domain containing 2	301					apoptotic nuclear changes (GO:0030262)|cellular homeostasis (GO:0019725)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|RNA processing (GO:0006396)|rRNA catabolic process (GO:0016075)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)	DNA binding (GO:0003677)|receptor signaling complex scaffold activity (GO:0030159)			endometrium(1)|large_intestine(1)|ovary(1)|prostate(2)	5		Prostate(69;0.0704)				ATAGTCAGCCTCATCCACACT	0.682																																					p.E301G		Atlas-SNP	.											.	DEDD2	16	.	0			c.A902G						.						31.0	31.0	31.0					19																	42703669		2203	4297	6500	SO:0001583	missense	162989	exon5			TCAGCCTCATCCA	AY125488	CCDS12597.1, CCDS59391.1	19q13.31	2008-02-05				ENSG00000160570			24450	protein-coding gene	gene with protein product						11965497, 12235123	Standard	NM_133328		Approved	FLAME-3	uc031rkv.1	Q8WXF8		ENST00000595337.1:c.902A>G	chr19.hg19:g.42703669T>C	ENSP00000470082:p.Glu301Gly	182.0	0.0		101.0	5.0	NM_133328	Q8NBR2|Q8NES1|Q8TAA8|Q96D35	Missense_Mutation	SNP	ENST00000595337.1	hg19	CCDS12597.1	.	.	.	.	.	.	.	.	.	.	T	28.3	4.906655	0.92107	.	.	ENSG00000160570	ENST00000336034	.	.	.	4.03	4.03	0.46877	.	0.068636	0.56097	D	0.000024	T	0.54287	0.1849	N	0.24115	0.695	0.42321	D	0.992256	D;D	0.65815	0.995;0.991	P;P	0.61003	0.882;0.766	T	0.60910	-0.7169	9	0.87932	D	0	-21.3874	12.6309	0.56657	0.0:0.0:0.0:1.0	.	296;301	Q8WXF8-2;Q8WXF8	.;DEDD2_HUMAN	G	301	.	ENSP00000336972:E301G	E	-	2	0	DEDD2	47395509	1.000000	0.71417	0.964000	0.40570	0.978000	0.69477	7.997000	0.88414	1.764000	0.52075	0.460000	0.39030	GAG	.	.		0.682	DEDD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463508.1	NM_133328	
XRCC1	7515	hgsc.bcm.edu	37	19	44048332	44048332	+	Missense_Mutation	SNP	C	C	A	rs2307167	byFrequency	TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr19:44048332C>A	ENST00000262887.5	-	15	2223	c.1676G>T	c.(1675-1677)cGg>cTg	p.R559L	XRCC1_ENST00000543982.1_Missense_Mutation_p.R528L			P18887	XRCC1_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 1	559	BRCT 2. {ECO:0000255|PROSITE- ProRule:PRU00033}.		R -> Q (in dbSNP:rs2307167).		base-excision repair (GO:0006284)|DNA repair (GO:0006281)|hippocampus development (GO:0021766)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to organic substance (GO:0010033)|single strand break repair (GO:0000012)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Prostate(69;0.0153)				GAGTTTCCGCCGCTCGTCCCC	0.582								Other BER factors																													p.R559L		Atlas-SNP	.											.	XRCC1	47	.	0			c.G1676T						.						63.0	55.0	58.0					19																	44048332		2203	4300	6503	SO:0001583	missense	7515	exon15			TTCCGCCGCTCGT	M36089	CCDS12624.1	19q13.2	2014-09-17				ENSG00000073050			12828	protein-coding gene	gene with protein product		194360		RCC		2247054	Standard	NM_006297		Approved		uc002owt.2	P18887		ENST00000262887.5:c.1676G>T	chr19.hg19:g.44048332C>A	ENSP00000262887:p.Arg559Leu	104.0	0.0		92.0	4.0	NM_006297	Q6IBS4|Q9HCB1	Missense_Mutation	SNP	ENST00000262887.5	hg19	CCDS12624.1	.	.	.	.	.	.	.	.	.	.	C	11.55	1.671996	0.29693	.	.	ENSG00000073050	ENST00000458471;ENST00000262887;ENST00000543982	D;D	0.84800	-1.9;-1.9	4.75	2.58	0.30949	BRCT (4);	0.000000	0.64402	D	0.000001	T	0.78039	0.4221	L	0.45581	1.43	0.39517	D	0.968455	B;P	0.44734	0.001;0.842	B;B	0.41271	0.001;0.352	T	0.73040	-0.4108	10	0.29301	T	0.29	-23.3026	8.3823	0.32479	0.154:0.7608:0.0:0.0852	.	528;559	F5H8D7;P18887	.;XRCC1_HUMAN	L	573;559;528	ENSP00000262887:R559L;ENSP00000443671:R528L	ENSP00000262887:R559L	R	-	2	0	XRCC1	48740172	1.000000	0.71417	0.974000	0.42286	0.169000	0.22640	2.406000	0.44557	0.682000	0.31407	-0.464000	0.05259	CGG	.	C|0.999;T|0.001		0.582	XRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463194.1	NM_006297	
ZNF227	7770	hgsc.bcm.edu	37	19	44739253	44739253	+	Missense_Mutation	SNP	A	A	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr19:44739253A>C	ENST00000313040.7	+	6	875	c.670A>C	c.(670-672)Aaa>Caa	p.K224Q	ZNF227_ENST00000391961.2_Missense_Mutation_p.K173Q|ZNF227_ENST00000589005.1_Missense_Mutation_p.K173Q	NM_182490.1	NP_872296.1	Q86WZ6	ZN227_HUMAN	zinc finger protein 227	224					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)			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(2)|stomach(1)|urinary_tract(1)	24		Prostate(69;0.0435)				CACAGAACCAAAACCCTGCAA	0.378																																					p.K224Q		Atlas-SNP	.											.	ZNF227	62	.	0			c.A670C						.						62.0	62.0	62.0					19																	44739253		2203	4300	6503	SO:0001583	missense	7770	exon6			GAACCAAAACCCT	AK092253	CCDS12636.1, CCDS74388.1	19q13.32	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	13020	protein-coding gene	gene with protein product							Standard	XM_005259232		Approved		uc002oyu.3	Q86WZ6		ENST00000313040.7:c.670A>C	chr19.hg19:g.44739253A>C	ENSP00000321049:p.Lys224Gln	122.0	0.0		81.0	24.0	NM_182490	B3KRU7|B7Z5P9	Missense_Mutation	SNP	ENST00000313040.7	hg19	CCDS12636.1	.	.	.	.	.	.	.	.	.	.	A	10.27	1.303731	0.23736	.	.	ENSG00000131115	ENST00000313040;ENST00000328297;ENST00000391961;ENST00000418980	T;T	0.02103	4.45;4.45	4.27	3.24	0.37175	.	.	.	.	.	T	0.04634	0.0126	M	0.81614	2.55	0.09310	N	0.999998	B;B;B;B	0.12013	0.005;0.005;0.005;0.005	B;B;B;B	0.08055	0.003;0.003;0.003;0.003	T	0.21143	-1.0254	9	0.66056	D	0.02	.	7.7259	0.28759	0.7438:0.2562:0.0:0.0	.	145;203;176;224	B7Z6M2;Q658S5;Q9NS43;Q86WZ6	.;.;.;ZN227_HUMAN	Q	224;181;173;203	ENSP00000321049:K224Q;ENSP00000375823:K173Q	ENSP00000321049:K224Q	K	+	1	0	ZNF227	49431093	0.001000	0.12720	0.130000	0.21974	0.042000	0.13812	0.751000	0.26348	0.814000	0.34374	0.460000	0.39030	AAA	.	.		0.378	ZNF227-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460720.1	NM_182490	
ZNF227	7770	hgsc.bcm.edu	37	19	44740046	44740046	+	Missense_Mutation	SNP	G	G	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr19:44740046G>T	ENST00000313040.7	+	6	1668	c.1463G>T	c.(1462-1464)gGa>gTa	p.G488V	ZNF227_ENST00000391961.2_Missense_Mutation_p.G437V|ZNF227_ENST00000589005.1_Missense_Mutation_p.G437V	NM_182490.1	NP_872296.1	Q86WZ6	ZN227_HUMAN	zinc finger protein 227	488					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)			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(2)|stomach(1)|urinary_tract(1)	24		Prostate(69;0.0435)				GTTCACACGGGAGAGAAACCC	0.468																																					p.G488V		Atlas-SNP	.											.	ZNF227	62	.	0			c.G1463T						.						70.0	69.0	69.0					19																	44740046		2203	4300	6503	SO:0001583	missense	7770	exon6			ACACGGGAGAGAA	AK092253	CCDS12636.1, CCDS74388.1	19q13.32	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	13020	protein-coding gene	gene with protein product							Standard	XM_005259232		Approved		uc002oyu.3	Q86WZ6		ENST00000313040.7:c.1463G>T	chr19.hg19:g.44740046G>T	ENSP00000321049:p.Gly488Val	134.0	0.0		83.0	4.0	NM_182490	B3KRU7|B7Z5P9	Missense_Mutation	SNP	ENST00000313040.7	hg19	CCDS12636.1	.	.	.	.	.	.	.	.	.	.	G	19.62	3.862029	0.71949	.	.	ENSG00000131115	ENST00000313040;ENST00000328297;ENST00000391961;ENST00000418980;ENST00000377916	T;T	0.23552	1.9;1.9	3.93	3.93	0.45458	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.55289	0.1911	M	0.86740	2.835	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.996;1.0;1.0;0.996	T	0.65022	-0.6269	9	0.72032	D	0.01	.	14.2892	0.66265	0.0:0.0:1.0:0.0	.	409;467;440;488	B7Z6M2;Q658S5;Q9NS43;Q86WZ6	.;.;.;ZN227_HUMAN	V	488;445;437;467;189	ENSP00000321049:G488V;ENSP00000375823:G437V	ENSP00000321049:G488V	G	+	2	0	ZNF227	49431886	0.992000	0.36948	0.989000	0.46669	0.994000	0.84299	2.054000	0.41335	2.125000	0.65367	0.563000	0.77884	GGA	.	.		0.468	ZNF227-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460720.1	NM_182490	
BCAM	4059	hgsc.bcm.edu	37	19	45322317	45322317	+	Silent	SNP	G	G	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr19:45322317G>T	ENST00000270233.6	+	11	1363	c.1341G>T	c.(1339-1341)tcG>tcT	p.S447S	BCAM_ENST00000589651.1_Silent_p.S447S	NM_001013257.2|NM_005581.4	NP_001013275.1|NP_005572.2	P50895	BCAM_HUMAN	basal cell adhesion molecule (Lutheran blood group)	447					cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	laminin binding (GO:0043236)|laminin receptor activity (GO:0005055)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				CCACAGGCTCGCCAGAGCTAA	0.587																																					p.S447S		Atlas-SNP	.											BCAM,NS,carcinoma,0,1	BCAM	53	.	0			c.G1341T						.						136.0	158.0	150.0					19																	45322317		2203	4300	6503	SO:0001819	synonymous_variant	4059	exon11			AGGCTCGCCAGAG	X83425	CCDS12644.1, CCDS42575.1	19q12-q13	2014-07-18	2006-02-23	2006-01-12		ENSG00000187244		"""CD molecules"", ""Blood group antigens"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6722	protein-coding gene	gene with protein product		612773	"""Lutheran blood group (Auberger b antigen included)"", ""basal cell adhesion molecule (Lu and Au blood groups)"""	LU			Standard	NM_005581		Approved	CD239	uc002ozu.4	P50895		ENST00000270233.6:c.1341G>T	chr19.hg19:g.45322317G>T		130.0	1.0		59.0	4.0	NM_001013257	A8MYF9|A9YWT5|A9YWT6|Q86VC7	Silent	SNP	ENST00000270233.6	hg19	CCDS12644.1																																																																																			.	.		0.587	BCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453220.1	NM_005581	
VASP	7408	hgsc.bcm.edu	37	19	46021235	46021235	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr19:46021235A>G	ENST00000245932.6	+	3	582	c.226A>G	c.(226-228)Acc>Gcc	p.T76A	VASP_ENST00000586619.1_3'UTR	NM_003370.3	NP_003361.1	P50552	VASP_HUMAN	vasodilator-stimulated phosphoprotein	76	WH1. {ECO:0000255|PROSITE- ProRule:PRU00410}.				actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|neural tube closure (GO:0001843)|positive regulation of actin filament polymerization (GO:0030838)|protein homotetramerization (GO:0051289)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	profilin binding (GO:0005522)			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2)	18		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0145)|GBM - Glioblastoma multiforme(486;0.154)		TAACCAGGCCACCCCCAACTT	0.682																																					p.T76A		Atlas-SNP	.											.	VASP	26	.	0			c.A226G						.						39.0	40.0	39.0					19																	46021235		2203	4300	6503	SO:0001583	missense	7408	exon3			CAGGCCACCCCCA		CCDS33051.1	19q13.32	2012-02-22			ENSG00000125753	ENSG00000125753			12652	protein-coding gene	gene with protein product		601703				8812448	Standard	XM_005259199		Approved		uc002pcg.3	P50552		ENST00000245932.6:c.226A>G	chr19.hg19:g.46021235A>G	ENSP00000245932:p.Thr76Ala	260.0	0.0		191.0	10.0	NM_003370	B2RBT9|Q6PIZ1|Q93035	Missense_Mutation	SNP	ENST00000245932.6	hg19	CCDS33051.1	.	.	.	.	.	.	.	.	.	.	A	13.23	2.175095	0.38413	.	.	ENSG00000125753	ENST00000245932	D	0.98807	-5.15	4.56	4.56	0.56223	EVH1 (3);Pleckstrin homology-type (1);	0.122937	0.51477	D	0.000089	D	0.98099	0.9373	M	0.77313	2.365	0.80722	D	1	P	0.36222	0.544	B	0.42827	0.399	D	0.98874	1.0767	10	0.66056	D	0.02	-24.2521	12.1609	0.54103	1.0:0.0:0.0:0.0	.	76	P50552	VASP_HUMAN	A	76	ENSP00000245932:T76A	ENSP00000245932:T76A	T	+	1	0	VASP	50713075	1.000000	0.71417	0.999000	0.59377	0.003000	0.03518	8.866000	0.92307	1.812000	0.52913	0.533000	0.62120	ACC	.	.		0.682	VASP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459589.1		
NOVA2	4858	hgsc.bcm.edu	37	19	46444042	46444042	+	Silent	SNP	G	G	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr19:46444042G>A	ENST00000263257.5	-	4	752	c.558C>T	c.(556-558)ccC>ccT	p.P186P		NM_002516.2	NP_002507.1	Q9UNW9	NOVA2_HUMAN	neuro-oncological ventral antigen 2	186	KH 2. {ECO:0000255|PROSITE- ProRule:PRU00117}.				regulation of RNA metabolic process (GO:0051252)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(3)|large_intestine(5)|lung(13)	21		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179)		GCACCTGCTCGGGCTCGCCGC	0.632																																					p.P186P		Atlas-SNP	.											NOVA2,colon,carcinoma,0,1	NOVA2	38	.	0			c.C558T						.						57.0	34.0	42.0					19																	46444042		2203	4300	6503	SO:0001819	synonymous_variant	4858	exon4			CTGCTCGGGCTCG	U70477	CCDS12679.1	19q13.3	2008-07-17				ENSG00000104967			7887	protein-coding gene	gene with protein product	"""neuro-oncological ventral antigen 3"""	601991		NOVA3		9344654, 10368286	Standard	NM_002516		Approved	ANOVA	uc002pdv.2	Q9UNW9		ENST00000263257.5:c.558C>T	chr19.hg19:g.46444042G>A		97.0	0.0		49.0	2.0	NM_002516	O43267|Q9UEA1	Silent	SNP	ENST00000263257.5	hg19	CCDS12679.1																																																																																			.	.		0.632	NOVA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437210.2	NM_002516	
EHD2	30846	hgsc.bcm.edu	37	19	48219955	48219955	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr19:48219955A>G	ENST00000263277.3	+	2	337	c.86A>G	c.(85-87)tAc>tGc	p.Y29C	CTD-2571L23.8_ENST00000599924.1_lincRNA|EHD2_ENST00000538399.1_Intron	NM_014601.3	NP_055416.2	Q9NZN4	EHD2_HUMAN	EH-domain containing 2	29					blood coagulation (GO:0007596)|cortical actin cytoskeleton organization (GO:0030866)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of myoblast fusion (GO:1901741)|protein localization to plasma membrane (GO:0072659)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)			endometrium(3)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	19		all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537)		AAGGAGCTGTACCGCACGAAG	0.692																																					p.Y29C		Atlas-SNP	.											.	EHD2	59	.	0			c.A86G						.						26.0	22.0	23.0					19																	48219955		2201	4298	6499	SO:0001583	missense	30846	exon2			AGCTGTACCGCAC	AF181263	CCDS12704.1	19q13.3	2014-08-12			ENSG00000024422	ENSG00000024422		"""EF-hand domain containing"""	3243	protein-coding gene	gene with protein product		605890		PAST2		10673336	Standard	NM_014601		Approved		uc002phj.4	Q9NZN4	OTTHUMG00000183266	ENST00000263277.3:c.86A>G	chr19.hg19:g.48219955A>G	ENSP00000263277:p.Tyr29Cys	118.0	0.0		80.0	4.0	NM_014601	B2RDH9|B4DNU6|Q96CB6	Missense_Mutation	SNP	ENST00000263277.3	hg19	CCDS12704.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.133329	0.77662	.	.	ENSG00000024422	ENST00000263277;ENST00000539439;ENST00000540364	T	0.40476	1.03	3.88	3.88	0.44766	.	0.000000	0.85682	D	0.000000	T	0.70325	0.3211	M	0.93720	3.45	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.77627	-0.2517	10	0.87932	D	0	-33.2545	10.947	0.47306	1.0:0.0:0.0:0.0	.	29	Q9NZN4	EHD2_HUMAN	C	29	ENSP00000263277:Y29C	ENSP00000263277:Y29C	Y	+	2	0	EHD2	52911767	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	8.943000	0.92975	1.772000	0.52199	0.418000	0.28097	TAC	.	.		0.692	EHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465851.1		
LIG1	3978	hgsc.bcm.edu	37	19	48636262	48636262	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr19:48636262T>C	ENST00000263274.7	-	18	2121	c.1702A>G	c.(1702-1704)Aaa>Gaa	p.K568E	LIG1_ENST00000427526.2_Missense_Mutation_p.K537E|LIG1_ENST00000536218.1_Missense_Mutation_p.K500E	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent	568					anatomical structure morphogenesis (GO:0009653)|base-excision repair (GO:0006284)|cell division (GO:0051301)|DNA biosynthetic process (GO:0071897)|DNA ligation involved in DNA repair (GO:0051103)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|double-strand break repair via nonhomologous end joining (GO:0006303)|lagging strand elongation (GO:0006273)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|response to hydrogen peroxide (GO:0042542)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	chromosome (GO:0005694)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	CCGTCATATTTGTATTCGCAG	0.567								Nucleotide excision repair (NER)																													p.K568E		Atlas-SNP	.											.	LIG1	151	.	0			c.A1702G						.						182.0	168.0	172.0					19																	48636262		2203	4300	6503	SO:0001583	missense	3978	exon18			CATATTTGTATTC		CCDS12711.1, CCDS74409.1, CCDS74410.1	19q13.2-q13.3	2014-09-17				ENSG00000105486	6.5.1.1		6598	protein-coding gene	gene with protein product		126391					Standard	XM_005258934		Approved		uc002pia.1	P18858		ENST00000263274.7:c.1702A>G	chr19.hg19:g.48636262T>C	ENSP00000263274:p.Lys568Glu	145.0	0.0		96.0	4.0	NM_000234	B2RAI8|Q2TB12|Q32P23	Missense_Mutation	SNP	ENST00000263274.7	hg19	CCDS12711.1	.	.	.	.	.	.	.	.	.	.	T	27.6	4.843632	0.91197	.	.	ENSG00000105486	ENST00000263274;ENST00000544761;ENST00000427526;ENST00000536218	D;D;D	0.97731	-4.51;-4.51;-4.51	5.48	5.48	0.80851	DNA ligase, ATP-dependent, central (1);DNA ligase, ATP-dependent, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99447	0.9804	H	0.99952	5.035	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.97673	1.0168	10	0.87932	D	0	-20.0359	13.8169	0.63297	0.0:0.0:0.0:1.0	.	537;500;568	B4DTU4;F5GZ28;P18858	.;.;DNLI1_HUMAN	E	568;599;537;500	ENSP00000263274:K568E;ENSP00000442841:K537E;ENSP00000441531:K500E	ENSP00000263274:K568E	K	-	1	0	LIG1	53328074	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	6.890000	0.75633	2.215000	0.71742	0.533000	0.62120	AAA	.	.		0.567	LIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465575.1	NM_000234	
PIH1D1	55011	hgsc.bcm.edu	37	19	49950318	49950318	+	Missense_Mutation	SNP	G	G	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr19:49950318G>T	ENST00000262265.5	-	7	885	c.650C>A	c.(649-651)cCc>cAc	p.P217H	PIH1D1_ENST00000602226.1_5'Flank|PIH1D1_ENST00000596049.1_Missense_Mutation_p.P217H	NM_017916.2	NP_060386.1	Q9NWS0	PIHD1_HUMAN	PIH1 domain containing 1	217					box C/D snoRNP assembly (GO:0000492)|epithelial cell differentiation (GO:0030855)	pre-snoRNP complex (GO:0070761)				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1)	11		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00152)|GBM - Glioblastoma multiforme(486;0.0244)		GAGGAGGTCGGGGGCTTCCAG	0.602																																					p.P217H		Atlas-SNP	.											.	PIH1D1	23	.	0			c.C650A						.						102.0	104.0	103.0					19																	49950318		2203	4300	6503	SO:0001583	missense	55011	exon7			AGGTCGGGGGCTT	AK000650	CCDS12765.1	19q13.33	2012-07-18	2007-01-31	2007-01-31	ENSG00000104872	ENSG00000104872			26075	protein-coding gene	gene with protein product		611480		NOP17		12477932	Standard	NM_017916		Approved	FLJ20643	uc002pns.2	Q9NWS0		ENST00000262265.5:c.650C>A	chr19.hg19:g.49950318G>T	ENSP00000262265:p.Pro217His	117.0	0.0		63.0	4.0	NM_017916	B4DGN7|B4E2X7|Q9BVL0	Missense_Mutation	SNP	ENST00000262265.5	hg19	CCDS12765.1	.	.	.	.	.	.	.	.	.	.	G	15.60	2.881966	0.51908	.	.	ENSG00000104872	ENST00000262265	T	0.30981	1.51	4.98	3.92	0.45320	.	0.060806	0.64402	D	0.000003	T	0.34395	0.0896	M	0.67397	2.05	0.38583	D	0.950234	B	0.28552	0.215	B	0.33196	0.159	T	0.40059	-0.9583	10	0.87932	D	0	-12.6748	10.7926	0.46443	0.0:0.0:0.8109:0.1891	.	217	Q9NWS0	PIHD1_HUMAN	H	217	ENSP00000262265:P217H	ENSP00000262265:P217H	P	-	2	0	PIH1D1	54642130	1.000000	0.71417	0.996000	0.52242	0.420000	0.31355	4.575000	0.60908	1.443000	0.47586	0.655000	0.94253	CCC	.	.		0.602	PIH1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465389.2	NM_017916	
AP2A1	160	hgsc.bcm.edu	37	19	50303262	50303262	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr19:50303262T>C	ENST00000359032.5	+	11	1310	c.1310T>C	c.(1309-1311)gTg>gCg	p.V437A	AP2A1_ENST00000354293.5_Missense_Mutation_p.V437A	NM_014203.2	NP_055018.2	O95782	AP2A1_HUMAN	adaptor-related protein complex 2, alpha 1 subunit	437					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Golgi to endosome transport (GO:0006895)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	AP-2 adaptor complex (GO:0030122)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)	19		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)		AAGTACGCCGTGGACTACAGC	0.617																																					p.V437A		Atlas-SNP	.											.	AP2A1	108	.	0			c.T1310C						.						90.0	97.0	95.0					19																	50303262		2134	4233	6367	SO:0001583	missense	160	exon11			ACGCCGTGGACTA	AA993745	CCDS46148.1, CCDS46149.1	19q13.3	2008-05-23				ENSG00000196961			561	protein-coding gene	gene with protein product		601026		CLAPA1, ADTAA		2564002	Standard	NM_014203		Approved		uc002ppn.3	O95782		ENST00000359032.5:c.1310T>C	chr19.hg19:g.50303262T>C	ENSP00000351926:p.Val437Ala	163.0	0.0		98.0	4.0	NM_130787	Q96CI7|Q96PP6|Q96PP7|Q9H070	Missense_Mutation	SNP	ENST00000359032.5	hg19	CCDS46148.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.411492	0.83340	.	.	ENSG00000196961	ENST00000354293;ENST00000359032	T;T	0.35973	1.28;1.28	4.65	4.65	0.58169	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.39172	0.1068	L	0.33485	1.01	0.54753	D	0.999987	P;P	0.40211	0.459;0.707	B;P	0.49361	0.352;0.608	T	0.23297	-1.0192	10	0.48119	T	0.1	.	13.1876	0.59691	0.0:0.0:0.0:1.0	.	437;437	O95782-2;O95782	.;AP2A1_HUMAN	A	437	ENSP00000346246:V437A;ENSP00000351926:V437A	ENSP00000346246:V437A	V	+	2	0	AP2A1	54995074	1.000000	0.71417	0.991000	0.47740	0.938000	0.57974	7.370000	0.79589	1.944000	0.56390	0.379000	0.24179	GTG	.	.		0.617	AP2A1-008	NOVEL	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465809.1		
POLD1	5424	hgsc.bcm.edu	37	19	50921165	50921165	+	Silent	SNP	C	C	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr19:50921165C>T	ENST00000440232.2	+	27	3338	c.3285C>T	c.(3283-3285)ctC>ctT	p.L1095L	SPIB_ENST00000270632.7_5'Flank|CTD-2545M3.6_ENST00000599632.1_Intron|SPIB_ENST00000439922.2_5'Flank|SPIB_ENST00000597855.1_5'Flank|POLD1_ENST00000599857.1_Silent_p.L1095L|SPIB_ENST00000596074.1_5'Flank|POLD1_ENST00000595904.1_Silent_p.L1121L|SPIB_ENST00000595883.1_5'Flank	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	1095					base-excision repair (GO:0006284)|base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|fatty acid homeostasis (GO:0055089)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)|response to UV (GO:0009411)|small molecule metabolic process (GO:0044281)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|delta DNA polymerase complex (GO:0043625)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		AGGAGCAGCTCCTGCGGCGCT	0.642								DNA polymerases (catalytic subunits)																													p.L1095L		Atlas-SNP	.											.	POLD1	174	.	0			c.C3285T						.						31.0	32.0	32.0					19																	50921165		2199	4298	6497	SO:0001819	synonymous_variant	5424	exon27			GCAGCTCCTGCGG		CCDS12795.1	19q13.3	2014-09-17	2012-05-18		ENSG00000062822	ENSG00000062822		"""DNA polymerases"""	9175	protein-coding gene	gene with protein product	"""CDC2 homolog (S. cerevisiae)"""	174761	"""polymerase (DNA directed), delta 1, catalytic subunit (125kD)"""	POLD		1722322	Standard	NM_001256849		Approved	CDC2	uc002psc.5	P28340		ENST00000440232.2:c.3285C>T	chr19.hg19:g.50921165C>T		255.0	0.0		174.0	52.0	NM_002691	Q8NER3|Q96H98	Silent	SNP	ENST00000440232.2	hg19	CCDS12795.1																																																																																			.	.		0.642	POLD1-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464732.1		
ZNF808	388558	hgsc.bcm.edu	37	19	53057390	53057390	+	Silent	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr19:53057390T>C	ENST00000359798.4	+	5	1401	c.1221T>C	c.(1219-1221)gcT>gcC	p.A407A		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	407					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)			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		GTGGTAAGGCTTTTAATCATC	0.368																																					p.A407A		Atlas-SNP	.											.	ZNF808	81	.	0			c.T1221C						.						78.0	84.0	82.0					19																	53057390		2196	4290	6486	SO:0001819	synonymous_variant	388558	exon5			TAAGGCTTTTAAT	CR749856	CCDS46167.1	19q13.41	2013-01-08			ENSG00000198482	ENSG00000198482		"""Zinc fingers, C2H2-type"", ""-"""	33230	protein-coding gene	gene with protein product							Standard	NM_001039886		Approved		uc010epq.1	Q8N4W9	OTTHUMG00000158230	ENST00000359798.4:c.1221T>C	chr19.hg19:g.53057390T>C		156.0	0.0		92.0	4.0	NM_001039886	Q68CN7	Silent	SNP	ENST00000359798.4	hg19	CCDS46167.1																																																																																			.	.		0.368	ZNF808-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350447.3	NM_001039886	
ZNF611	81856	hgsc.bcm.edu	37	19	53208496	53208496	+	Silent	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr19:53208496A>G	ENST00000319783.1	-	7	2128	c.1812T>C	c.(1810-1812)agT>agC	p.S604S	ZNF611_ENST00000453741.2_Silent_p.S535S|ZNF611_ENST00000602162.1_Silent_p.S535S|ZNF611_ENST00000595798.1_Silent_p.S535S|ZNF611_ENST00000543227.1_Silent_p.S604S|ZNF611_ENST00000540744.1_Silent_p.S604S|ZNF611_ENST00000602046.1_5'Flank	NM_030972.3	NP_112234.3	Q8N823	ZN611_HUMAN	zinc finger protein 611	604					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		ATGACCTGCGACTGAAGGTCT	0.458																																					p.S604S		Atlas-SNP	.											.	ZNF611	72	.	0			c.T1812C						.						249.0	226.0	234.0					19																	53208496		2203	4300	6503	SO:0001819	synonymous_variant	81856	exon7			CCTGCGACTGAAG	AK091389	CCDS12855.1, CCDS54312.1	19q13.42	2013-01-08			ENSG00000213020	ENSG00000213020		"""Zinc fingers, C2H2-type"", ""-"""	28766	protein-coding gene	gene with protein product						12477932	Standard	NM_030972		Approved	MGC5384	uc010ydq.2	Q8N823	OTTHUMG00000154908	ENST00000319783.1:c.1812T>C	chr19.hg19:g.53208496A>G		145.0	0.0		88.0	4.0	NM_030972	B3KRD5|Q69YG9	Silent	SNP	ENST00000319783.1	hg19	CCDS12855.1																																																																																			.	.		0.458	ZNF611-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337612.1	NM_030972	
ZNF665	79788	hgsc.bcm.edu	37	19	53667902	53667902	+	Missense_Mutation	SNP	G	G	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr19:53667902G>A	ENST00000600412.1	-	2	1761	c.1646C>T	c.(1645-1647)gCa>gTa	p.A549V	ZNF665_ENST00000396424.3_Missense_Mutation_p.A614V|CTD-2245F17.2_ENST00000600257.1_RNA			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	549					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		TCTATGATTTGCAAGATGTGA	0.403																																					p.A614V		Atlas-SNP	.											.	ZNF665	136	.	0			c.C1841T						.						106.0	111.0	110.0					19																	53667902		2203	4300	6503	SO:0001583	missense	79788	exon4			TGATTTGCAAGAT		CCDS46169.1	19q13.42	2013-01-08				ENSG00000197497		"""Zinc fingers, C2H2-type"", ""-"""	25885	protein-coding gene	gene with protein product							Standard	NM_024733		Approved	FLJ14345	uc010eqm.1	Q9H7R5		ENST00000600412.1:c.1646C>T	chr19.hg19:g.53667902G>A	ENSP00000469154:p.Ala549Val	139.0	0.0		98.0	6.0	NM_024733	A8K5T8	Missense_Mutation	SNP	ENST00000600412.1	hg19		.	.	.	.	.	.	.	.	.	.	G	6.014	0.370892	0.11409	.	.	ENSG00000197497	ENST00000396424	T	0.36520	1.25	2.55	-3.83	0.04269	.	.	.	.	.	T	0.17365	0.0417	N	0.16903	0.455	0.09310	N	1	B	0.29671	0.254	B	0.32022	0.139	T	0.25222	-1.0138	9	0.25751	T	0.34	.	3.5311	0.07777	0.229:0.0:0.3005:0.4706	.	614	Q9H7R5-2	.	V	614	ENSP00000379702:A614V	ENSP00000379702:A614V	A	-	2	0	ZNF665	58359714	0.000000	0.05858	0.000000	0.03702	0.039000	0.13416	-6.420000	0.00066	-0.912000	0.03837	-0.399000	0.06403	GCA	.	.		0.403	ZNF665-002	PUTATIVE	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000464179.1	NM_024733	
ZNF845	91664	hgsc.bcm.edu	37	19	53854926	53854926	+	Missense_Mutation	SNP	G	G	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr19:53854926G>A	ENST00000595091.1	+	5	1217	c.998G>A	c.(997-999)gGc>gAc	p.G333D	ZNF845_ENST00000458035.1_Missense_Mutation_p.G333D			Q96IR2	ZN845_HUMAN	zinc finger protein 845	333					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						AATGAATGTGGCAAGACCTTC	0.403																																					p.G333D		Atlas-SNP	.											.	ZNF845	101	.	0			c.G998A						.						64.0	57.0	59.0					19																	53854926		692	1591	2283	SO:0001583	missense	91664	exon4			AATGTGGCAAGAC	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.998G>A	chr19.hg19:g.53854926G>A	ENSP00000470005:p.Gly333Asp	156.0	0.0		67.0	4.0	NM_138374		Missense_Mutation	SNP	ENST00000595091.1	hg19	CCDS46170.1	.	.	.	.	.	.	.	.	.	.	G	16.04	3.011452	0.54468	.	.	ENSG00000213799	ENST00000458035;ENST00000427984	T	0.01430	4.9	2.05	-0.511	0.11970	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01320	0.0043	N	0.25890	0.77	0.09310	N	0.99999	B	0.22604	0.072	B	0.23716	0.048	T	0.45702	-0.9243	9	0.52906	T	0.07	.	6.8118	0.23809	0.2693:0.0:0.7307:0.0	.	333	Q96IR2	ZN845_HUMAN	D	333	ENSP00000388311:G333D	ENSP00000412086:G333D	G	+	2	0	ZNF845	58546738	0.800000	0.28916	0.000000	0.03702	0.680000	0.39746	0.921000	0.28718	-0.210000	0.10140	0.205000	0.17691	GGC	.	.		0.403	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908	
ZNF845	91664	hgsc.bcm.edu	37	19	53855322	53855322	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr19:53855322A>G	ENST00000595091.1	+	5	1613	c.1394A>G	c.(1393-1395)aAa>aGa	p.K465R	ZNF845_ENST00000458035.1_Missense_Mutation_p.K465R			Q96IR2	ZN845_HUMAN	zinc finger protein 845	465					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						ACTGGAGAGAAACCTTACAAG	0.383																																					p.K465R		Atlas-SNP	.											ZNF845,NS,carcinoma,0,1	ZNF845	101	.	0			c.A1394G						.						27.0	26.0	26.0					19																	53855322		692	1590	2282	SO:0001583	missense	91664	exon4			GAGAGAAACCTTA	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.1394A>G	chr19.hg19:g.53855322A>G	ENSP00000470005:p.Lys465Arg	120.0	0.0		68.0	4.0	NM_138374		Missense_Mutation	SNP	ENST00000595091.1	hg19	CCDS46170.1	.	.	.	.	.	.	.	.	.	.	A	14.82	2.650087	0.47362	.	.	ENSG00000213799	ENST00000458035;ENST00000427984	T	0.24908	1.83	2.08	2.08	0.27032	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.27866	0.0686	N	0.11698	0.16	0.22317	N	0.999202	P	0.49961	0.93	D	0.66196	0.942	T	0.13548	-1.0505	9	0.40728	T	0.16	.	8.8735	0.35332	1.0:0.0:0.0:0.0	.	465	Q96IR2	ZN845_HUMAN	R	465	ENSP00000388311:K465R	ENSP00000412086:K465R	K	+	2	0	ZNF845	58547134	0.154000	0.22792	0.015000	0.15790	0.041000	0.13682	0.683000	0.25349	0.942000	0.37525	0.338000	0.21704	AAA	.	.		0.383	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908	
NLRP2	55655	hgsc.bcm.edu	37	19	55496563	55496563	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr19:55496563A>G	ENST00000543010.1	+	7	2322	c.2179A>G	c.(2179-2181)Acc>Gcc	p.T727A	NLRP2_ENST00000391721.4_Missense_Mutation_p.T703A|NLRP2_ENST00000538819.1_Missense_Mutation_p.T703A|NLRP2_ENST00000427260.2_Missense_Mutation_p.T704A|NLRP2_ENST00000263437.6_Missense_Mutation_p.T724A|NLRP2_ENST00000448584.2_Missense_Mutation_p.T727A|NLRP2_ENST00000339757.7_Missense_Mutation_p.T705A|NLRP2_ENST00000537859.1_Missense_Mutation_p.T705A	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	727					positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		AGCCTCTGACACCTGTCATCT	0.398																																					p.T727A		Atlas-SNP	.											.	NLRP2	161	.	0			c.A2179G						.						144.0	128.0	133.0					19																	55496563		2203	4300	6503	SO:0001583	missense	55655	exon7			TCTGACACCTGTC	AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"""Nucleotide-binding domain and leucine rich repeat containing"""	22948	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"""	609364	"""NACHT, leucine rich repeat and PYD containing 2"""	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.2179A>G	chr19.hg19:g.55496563A>G	ENSP00000445135:p.Thr727Ala	72.0	0.0		68.0	4.0	NM_017852	B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Missense_Mutation	SNP	ENST00000543010.1	hg19	CCDS12913.1	.	.	.	.	.	.	.	.	.	.	a	6.975	0.549806	0.13374	.	.	ENSG00000022556	ENST00000543010;ENST00000391721;ENST00000339757;ENST00000448584;ENST00000537859;ENST00000427260;ENST00000538819;ENST00000263437	T;T;T;T;T;T;T;T	0.52295	0.67;0.67;0.67;0.67;0.67;0.67;0.67;0.67	2.45	-2.83	0.05769	.	1.117520	0.07063	N	0.834022	T	0.33933	0.0880	M	0.62723	1.935	0.09310	N	1	B;B;B;B;B	0.12630	0.006;0.004;0.006;0.004;0.006	B;B;B;B;B	0.15052	0.005;0.012;0.005;0.012;0.005	T	0.31475	-0.9942	10	0.08381	T	0.77	.	1.113	0.01708	0.2911:0.387:0.1318:0.1901	.	704;705;724;703;727	B4DZL7;Q9NX02-2;A8K9G6;Q9NX02-4;Q9NX02	.;.;.;.;NALP2_HUMAN	A	727;703;705;727;705;704;703;724	ENSP00000445135:T727A;ENSP00000375601:T703A;ENSP00000344074:T705A;ENSP00000409370:T727A;ENSP00000440601:T705A;ENSP00000402474:T704A;ENSP00000441133:T703A;ENSP00000263437:T724A	ENSP00000263437:T724A	T	+	1	0	NLRP2	60188375	0.000000	0.05858	0.000000	0.03702	0.222000	0.24845	-0.532000	0.06164	-0.853000	0.04136	0.449000	0.29647	ACC	.	.		0.398	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396152.1	NM_017852	
NLRP2	55655	hgsc.bcm.edu	37	19	55497649	55497649	+	Silent	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr19:55497649T>C	ENST00000543010.1	+	8	2475	c.2332T>C	c.(2332-2334)Ttg>Ctg	p.L778L	NLRP2_ENST00000391721.4_Silent_p.L754L|NLRP2_ENST00000538819.1_Silent_p.L754L|NLRP2_ENST00000427260.2_Silent_p.L755L|NLRP2_ENST00000263437.6_Silent_p.L775L|NLRP2_ENST00000448584.2_Silent_p.L778L|NLRP2_ENST00000339757.7_Silent_p.L756L|NLRP2_ENST00000537859.1_Silent_p.L756L	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	778					positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GTGTGAGGTCTTGAGACATCC	0.433																																					p.L778L		Atlas-SNP	.											.	NLRP2	161	.	0			c.T2332C						.						156.0	127.0	137.0					19																	55497649		2203	4300	6503	SO:0001819	synonymous_variant	55655	exon8			GAGGTCTTGAGAC	AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"""Nucleotide-binding domain and leucine rich repeat containing"""	22948	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"""	609364	"""NACHT, leucine rich repeat and PYD containing 2"""	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.2332T>C	chr19.hg19:g.55497649T>C		157.0	0.0		97.0	4.0	NM_017852	B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Silent	SNP	ENST00000543010.1	hg19	CCDS12913.1																																																																																			.	.		0.433	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396152.1	NM_017852	
PTPRH	5794	hgsc.bcm.edu	37	19	55708079	55708079	+	Missense_Mutation	SNP	G	G	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr19:55708079G>T	ENST00000376350.3	-	10	2090	c.2068C>A	c.(2068-2070)Cag>Aag	p.Q690K	PTPRH_ENST00000588559.1_5'UTR|PTPRH_ENST00000263434.5_Missense_Mutation_p.Q512K	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	690	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic process (GO:0006915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		TAGCCTCCCTGGGGGCAGGAC	0.602																																					p.Q690K		Atlas-SNP	.											.	PTPRH	139	.	0			c.C2068A						.						70.0	65.0	67.0					19																	55708079		2203	4300	6503	SO:0001583	missense	5794	exon10			CTCCCTGGGGGCA		CCDS33110.1, CCDS54321.1	19q13.4	2013-02-11				ENSG00000080031		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9672	protein-coding gene	gene with protein product		602510				8294459	Standard	XM_006723312		Approved	SAP-1	uc002qjq.3	Q9HD43		ENST00000376350.3:c.2068C>A	chr19.hg19:g.55708079G>T	ENSP00000365528:p.Gln690Lys	110.0	0.0		75.0	4.0	NM_002842	C9JCH2|Q15426|Q2NKN9|Q2NKP0	Missense_Mutation	SNP	ENST00000376350.3	hg19	CCDS33110.1	.	.	.	.	.	.	.	.	.	.	G	11.55	1.671381	0.29693	.	.	ENSG00000080031	ENST00000376350;ENST00000263434	T;T	0.05717	3.4;4.42	5.33	-10.7	0.00240	Fibronectin, type III (1);	4.765710	0.00702	N	0.000787	T	0.02970	0.0088	N	0.24115	0.695	0.09310	N	1	P;P;B	0.37781	0.473;0.608;0.448	B;B;B	0.39119	0.152;0.291;0.127	T	0.46205	-0.9208	10	0.05959	T	0.93	.	2.4582	0.04535	0.0902:0.2809:0.3478:0.2811	.	512;512;690	C9JCH2;Q9HD43-2;Q9HD43	.;.;PTPRH_HUMAN	K	690;512	ENSP00000365528:Q690K;ENSP00000263434:Q512K	ENSP00000263434:Q512K	Q	-	1	0	PTPRH	60399891	0.000000	0.05858	0.000000	0.03702	0.342000	0.28953	-2.581000	0.00906	-1.739000	0.01347	-0.322000	0.08575	CAG	.	.		0.602	PTPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452649.1		
NLRP11	204801	hgsc.bcm.edu	37	19	56320276	56320276	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr19:56320276T>C	ENST00000589093.1	-	3	1793	c.1700A>G	c.(1699-1701)gAg>gGg	p.E567G	NLRP11_ENST00000360133.3_Missense_Mutation_p.E567G|NLRP11_ENST00000589824.2_Missense_Mutation_p.E567G|NLRP11_ENST00000592953.1_Missense_Mutation_p.E468G|NLRP11_ENST00000443188.1_Missense_Mutation_p.E567G			P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	567							ATP binding (GO:0005524)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		AACTGTAACCTCCATGAGAGC	0.438																																					p.E567G		Atlas-SNP	.											.	NLRP11	139	.	0			c.A1700G						.						133.0	118.0	123.0					19																	56320276		2203	4300	6503	SO:0001583	missense	204801	exon5			GTAACCTCCATGA	AY095145	CCDS12935.1, CCDS74458.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179873		"""Nucleotide-binding domain and leucine rich repeat containing"""	22945	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 11"""	609664	"""NACHT, leucine rich repeat and PYD containing 11"""	NALP11		12563287, 12019269	Standard	NM_145007		Approved	PYPAF6, NOD17, PAN10, CLR19.6	uc010ygf.2	P59045		ENST00000589093.1:c.1700A>G	chr19.hg19:g.56320276T>C	ENSP00000466285:p.Glu567Gly	212.0	0.0		100.0	4.0	NM_145007	C9JSF5|Q2TV85|Q2TV86|Q53ZZ0|Q8NBF5	Missense_Mutation	SNP	ENST00000589093.1	hg19	CCDS12935.1	.	.	.	.	.	.	.	.	.	.	T	13.02	2.113774	0.37339	.	.	ENSG00000179873	ENST00000443188;ENST00000360133	T;T	0.55413	0.52;0.52	2.39	1.3	0.21679	.	.	.	.	.	T	0.54271	0.1848	L	0.52573	1.65	0.09310	N	1	D;D	0.58620	0.971;0.983	P;P	0.54759	0.58;0.76	T	0.43015	-0.9417	9	0.72032	D	0.01	.	5.3109	0.15829	0.0:0.0:0.2989:0.7011	.	567;567	P59045;P59045-2	NAL11_HUMAN;.	G	567	ENSP00000409898:E567G;ENSP00000353251:E567G	ENSP00000353251:E567G	E	-	2	0	NLRP11	61012088	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	0.710000	0.25748	0.320000	0.23234	0.533000	0.62120	GAG	.	.		0.438	NLRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453657.1	NM_145007	
NLRP5	126206	hgsc.bcm.edu	37	19	56565058	56565058	+	Silent	SNP	C	C	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr19:56565058C>A	ENST00000390649.3	+	13	3183	c.3183C>A	c.(3181-3183)atC>atA	p.I1061I		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	1061					cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CCTGTGTGATCTCGAGGAGCA	0.572																																					p.I1061I		Atlas-SNP	.											NLRP5_ENST00000390649,NS,carcinoma,0,1	NLRP5	217	.	0			c.C3183A						.						83.0	84.0	84.0					19																	56565058		2097	4218	6315	SO:0001819	synonymous_variant	126206	exon13			TGTGATCTCGAGG	AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"""Nucleotide-binding domain and leucine rich repeat containing"""	21269	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"""	609658	"""NACHT, leucine rich repeat and PYD containing 5"""	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.3183C>A	chr19.hg19:g.56565058C>A		148.0	0.0		89.0	20.0	NM_153447	A8MTY4|Q86W29	Silent	SNP	ENST00000390649.3	hg19	CCDS12938.1																																																																																			.	.		0.572	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447	
ZNF582	147948	hgsc.bcm.edu	37	19	56895790	56895790	+	Silent	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr19:56895790A>G	ENST00000301310.4	-	5	1154	c.996T>C	c.(994-996)gtT>gtC	p.V332V	AC006116.12_ENST00000589671.1_RNA|ZNF582_ENST00000586929.1_Silent_p.V332V	NM_144690.1	NP_653291.1	Q96NG8	ZN582_HUMAN	zinc finger protein 582	332					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0547)		TGCCAGTATGAACAGTCTGAT	0.388																																					p.V332V	Ovarian(183;1887 2032 4349 30507 51343)	Atlas-SNP	.											.	ZNF582	56	.	0			c.T996C						.						91.0	91.0	91.0					19																	56895790		2203	4300	6503	SO:0001819	synonymous_variant	147948	exon5			AGTATGAACAGTC	AK055489	CCDS33121.1	19q13.43	2013-07-15			ENSG00000018869	ENSG00000018869		"""Zinc fingers, C2H2-type"", ""-"""	26421	protein-coding gene	gene with protein product		615600				12477932	Standard	NM_144690		Approved	FLJ30927	uc002qmz.1	Q96NG8	OTTHUMG00000181939	ENST00000301310.4:c.996T>C	chr19.hg19:g.56895790A>G		126.0	0.0		84.0	4.0	NM_144690	B4DQZ9|B7Z9R3|Q6PJT6	Silent	SNP	ENST00000301310.4	hg19	CCDS33121.1																																																																																			.	.		0.388	ZNF582-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458387.2	NM_144690	
ZNF667	63934	hgsc.bcm.edu	37	19	56953574	56953574	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr19:56953574G>A	ENST00000504904.3	-	7	1509	c.790C>T	c.(790-792)Cag>Tag	p.Q264*	ZNF667_ENST00000342634.3_Nonsense_Mutation_p.Q392*|ZNF667_ENST00000292069.6_Nonsense_Mutation_p.Q264*|ZNF667_ENST00000591790.1_3'UTR			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	264					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		GATGACATCTGATTGAAGGCT	0.363																																					p.Q264X		Atlas-SNP	.											.	ZNF667	95	.	0			c.C790T						.						87.0	91.0	89.0					19																	56953574		2203	4300	6503	SO:0001587	stop_gained	63934	exon5			ACATCTGATTGAA		CCDS12944.1	19q13.43	2013-01-08				ENSG00000198046		"""Zinc fingers, C2H2-type"", ""-"""	28854	protein-coding gene	gene with protein product		611024					Standard	NM_022103		Approved	FLJ14011	uc002qnd.3	Q5HYK9		ENST00000504904.3:c.790C>T	chr19.hg19:g.56953574G>A	ENSP00000439402:p.Gln264*	180.0	0.0		104.0	5.0	NM_022103	B2RMS6|B9EK36|Q6B093|Q9H807	Nonsense_Mutation	SNP	ENST00000504904.3	hg19	CCDS12944.1	.	.	.	.	.	.	.	.	.	.	G	13.61	2.289890	0.40494	.	.	ENSG00000198046	ENST00000342634;ENST00000504904;ENST00000292069;ENST00000452518	.	.	.	5.05	1.54	0.23209	.	1.254260	0.05897	N	0.629368	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	0.8174	5.5581	0.17127	0.099:0.0:0.3978:0.5032	.	.	.	.	X	392;264;264;46	.	ENSP00000292069:Q264X	Q	-	1	0	ZNF667	61645386	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.088000	0.11198	0.221000	0.20879	-0.282000	0.10007	CAG	.	.		0.363	ZNF667-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458394.1	NM_022103	
ZIK1	284307	hgsc.bcm.edu	37	19	58102154	58102154	+	Silent	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr19:58102154T>C	ENST00000597850.1	+	4	1190	c.975T>C	c.(973-975)tgT>tgC	p.C325C	ZIK1_ENST00000307468.4_3'UTR|ZIK1_ENST00000599456.1_Silent_p.C270C|ZIK1_ENST00000536878.2_Silent_p.C312C	NM_001010879.2	NP_001010879.2	Q3SY52	ZIK1_HUMAN	zinc finger protein interacting with K protein 1	325					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	34		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		CTTATGAGTGTAGCCAGTGTG	0.433																																					p.C325C		Atlas-SNP	.											.	ZIK1	94	.	0			c.T975C						.						66.0	64.0	65.0					19																	58102154		2203	4300	6503	SO:0001819	synonymous_variant	284307	exon4			TGAGTGTAGCCAG	AK092538	CCDS33135.1	19q13.43	2013-01-08	2012-12-07		ENSG00000171649	ENSG00000171649		"""Zinc fingers, C2H2-type"", ""-"""	33104	protein-coding gene	gene with protein product			"""zinc finger protein interacting with K protein 1 homolog (mouse)"""				Standard	XM_005258769		Approved	ZNF762	uc002qpg.3	Q3SY52		ENST00000597850.1:c.975T>C	chr19.hg19:g.58102154T>C		115.0	0.0		76.0	4.0	NM_001010879	O43339|Q3SY51|Q3SY53	Silent	SNP	ENST00000597850.1	hg19	CCDS33135.1																																																																																			.	.		0.433	ZIK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466791.1	NM_001010879	
ZNF418	147686	hgsc.bcm.edu	37	19	58438293	58438293	+	Missense_Mutation	SNP	C	C	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr19:58438293C>T	ENST00000396147.1	-	4	1547	c.1256G>A	c.(1255-1257)gGt>gAt	p.G419D	ZNF418_ENST00000425570.3_Missense_Mutation_p.G440D|ZNF418_ENST00000599852.1_Missense_Mutation_p.G334D|ZNF418_ENST00000595830.1_Missense_Mutation_p.G419D|ZNF418_ENST00000599086.1_5'Flank|ZNF418_ENST00000600989.1_Intron	NM_133460.1	NP_597717.1	Q8TF45	ZN418_HUMAN	zinc finger protein 418	419					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		TCCAGTGTGACCTCGCTGATG	0.468																																					p.G419D		Atlas-SNP	.											.	ZNF418	76	.	0			c.G1256A						.						159.0	162.0	161.0					19																	58438293		2203	4300	6503	SO:0001583	missense	147686	exon4			GTGTGACCTCGCT	AB075836, AY695825	CCDS42642.1	19q13.43	2013-01-08				ENSG00000196724		"""Zinc fingers, C2H2-type"", ""-"""	20647	protein-coding gene	gene with protein product						11853319	Standard	NM_133460		Approved	KIAA1956, FLJ31551	uc002qqs.1	Q8TF45		ENST00000396147.1:c.1256G>A	chr19.hg19:g.58438293C>T	ENSP00000379451:p.Gly419Asp	152.0	0.0		97.0	4.0	NM_133460	Q2M1S2|Q670L5|Q96N18	Missense_Mutation	SNP	ENST00000396147.1	hg19	CCDS42642.1	.	.	.	.	.	.	.	.	.	.	.	16.13	3.035615	0.54896	.	.	ENSG00000196724	ENST00000396147;ENST00000425570;ENST00000545403	T;T	0.07688	3.17;3.17	2.36	-0.124	0.13523	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06096	0.0158	N	0.17838	0.53	0.21020	N	0.999804	B	0.30211	0.273	B	0.32211	0.142	T	0.38308	-0.9667	9	0.87932	D	0	.	8.3196	0.32121	0.5942:0.4058:0.0:0.0	.	419	Q8TF45	ZN418_HUMAN	D	419;440;385	ENSP00000379451:G419D;ENSP00000407039:G440D	ENSP00000379451:G419D	G	-	2	0	ZNF418	63130105	.	.	0.059000	0.19551	0.883000	0.51084	.	.	-0.241000	0.09681	0.298000	0.19748	GGT	.	.		0.468	ZNF418-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466693.1	NM_133460	
ZNF418	147686	hgsc.bcm.edu	37	19	58438372	58438372	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr19:58438372T>C	ENST00000396147.1	-	4	1468	c.1177A>G	c.(1177-1179)Act>Gct	p.T393A	ZNF418_ENST00000425570.3_Missense_Mutation_p.T414A|ZNF418_ENST00000599852.1_Missense_Mutation_p.T308A|ZNF418_ENST00000595830.1_Missense_Mutation_p.T393A|ZNF418_ENST00000599086.1_5'Flank|ZNF418_ENST00000600989.1_Intron	NM_133460.1	NP_597717.1	Q8TF45	ZN418_HUMAN	zinc finger protein 418	393					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		CGTTCTCTAGTGTGAACTCGA	0.433																																					p.T393A		Atlas-SNP	.											.	ZNF418	76	.	0			c.A1177G						.						145.0	148.0	147.0					19																	58438372		2194	4295	6489	SO:0001583	missense	147686	exon4			CTCTAGTGTGAAC	AB075836, AY695825	CCDS42642.1	19q13.43	2013-01-08				ENSG00000196724		"""Zinc fingers, C2H2-type"", ""-"""	20647	protein-coding gene	gene with protein product						11853319	Standard	NM_133460		Approved	KIAA1956, FLJ31551	uc002qqs.1	Q8TF45		ENST00000396147.1:c.1177A>G	chr19.hg19:g.58438372T>C	ENSP00000379451:p.Thr393Ala	155.0	0.0		103.0	8.0	NM_133460	Q2M1S2|Q670L5|Q96N18	Missense_Mutation	SNP	ENST00000396147.1	hg19	CCDS42642.1	.	.	.	.	.	.	.	.	.	.	.	16.57	3.161337	0.57368	.	.	ENSG00000196724	ENST00000396147;ENST00000425570;ENST00000545403	T;T	0.35605	1.3;1.3	2.26	2.26	0.28386	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.49525	0.1562	M	0.70108	2.13	0.25789	N	0.984646	P	0.36660	0.564	P	0.50109	0.631	T	0.45366	-0.9266	9	0.66056	D	0.02	.	9.2268	0.37412	0.0:0.0:0.0:1.0	.	393	Q8TF45	ZN418_HUMAN	A	393;414;359	ENSP00000379451:T393A;ENSP00000407039:T414A	ENSP00000379451:T393A	T	-	1	0	ZNF418	63130184	1.000000	0.71417	0.005000	0.12908	0.662000	0.39071	3.915000	0.56409	1.051000	0.40369	0.234000	0.17832	ACT	.	.		0.433	ZNF418-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466693.1	NM_133460	
ZNF606	80095	hgsc.bcm.edu	37	19	58491239	58491239	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr19:58491239A>G	ENST00000341164.4	-	7	1429	c.809T>C	c.(808-810)gTt>gCt	p.V270A	ZNF606_ENST00000536132.1_Missense_Mutation_p.V180A	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	270					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		GGACTGATAAACAGTTTTGTC	0.328																																					p.V270A		Atlas-SNP	.											.	ZNF606	155	.	0			c.T809C						.						87.0	88.0	87.0					19																	58491239		2203	4300	6503	SO:0001583	missense	80095	exon7			TGATAAACAGTTT	AB058755	CCDS12968.1	19q13.43	2013-01-08			ENSG00000166704	ENSG00000166704		"""Zinc fingers, C2H2-type"", ""-"""	25879	protein-coding gene	gene with protein product		613905		ZNF328		11347906	Standard	XM_005259276		Approved	FLJ14260, KIAA1852	uc002qqw.3	Q8WXB4	OTTHUMG00000169804	ENST00000341164.4:c.809T>C	chr19.hg19:g.58491239A>G	ENSP00000343617:p.Val270Ala	104.0	0.0		57.0	4.0	NM_025027	A8KAN2|Q8NE04|Q96JH5	Missense_Mutation	SNP	ENST00000341164.4	hg19	CCDS12968.1	.	.	.	.	.	.	.	.	.	.	A	1.326	-0.598126	0.03744	.	.	ENSG00000166704	ENST00000341164;ENST00000536132;ENST00000551380	T;T;T	0.08193	3.26;3.12;3.69	4.19	3.18	0.36537	.	0.504108	0.16866	N	0.196337	T	0.04815	0.0130	N	0.08118	0	0.19300	N	0.99997	B	0.09022	0.002	B	0.06405	0.002	T	0.34775	-0.9815	10	0.72032	D	0.01	.	9.4919	0.38965	0.9119:0.0:0.0881:0.0	.	270	Q8WXB4	ZN606_HUMAN	A	270;180;270	ENSP00000343617:V270A;ENSP00000445624:V180A;ENSP00000446972:V270A	ENSP00000343617:V270A	V	-	2	0	ZNF606	63183051	0.065000	0.20965	0.010000	0.14722	0.008000	0.06430	2.563000	0.45922	0.939000	0.37446	-0.274000	0.10170	GTT	.	.		0.328	ZNF606-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405961.1	NM_025027	
ZNF544	27300	hgsc.bcm.edu	37	19	58773098	58773098	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr19:58773098G>T	ENST00000596652.1	+	6	1360	c.1126G>T	c.(1126-1128)Gga>Tga	p.G376*	ZNF544_ENST00000596929.1_Intron|CTD-3138B18.5_ENST00000597230.1_RNA|ZNF544_ENST00000599953.1_Nonsense_Mutation_p.G234*|ZNF544_ENST00000600044.1_Nonsense_Mutation_p.G348*|ZNF544_ENST00000415203.2_Nonsense_Mutation_p.G348*|CTD-3138B18.4_ENST00000600029.1_Intron|ZNF544_ENST00000596825.1_3'UTR|ZNF544_ENST00000600220.1_Nonsense_Mutation_p.G348*|ZNF544_ENST00000595981.1_Intron|ZNF544_ENST00000269829.4_Nonsense_Mutation_p.G376*|ZNF544_ENST00000599227.1_3'UTR			Q6NX49	ZN544_HUMAN	zinc finger protein 544	376					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(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)		AACACACACTGGAGAAAAGCC	0.438																																					p.G376X		Atlas-SNP	.											.	ZNF544	57	.	0			c.G1126T						.						83.0	80.0	81.0					19																	58773098		2203	4300	6503	SO:0001587	stop_gained	27300	exon7			CACACTGGAGAAA	AF020591	CCDS12973.1	19q13.43	2013-01-08				ENSG00000198131		"""Zinc fingers, C2H2-type"", ""-"""	16759	protein-coding gene	gene with protein product	"""zinc finger protein AF020591"""						Standard	NM_014480		Approved	AF020591	uc010euo.3	Q6NX49		ENST00000596652.1:c.1126G>T	chr19.hg19:g.58773098G>T	ENSP00000469635:p.Gly376*	69.0	0.0		48.0	4.0	NM_014480	A8K6J1|Q9UEX4	Nonsense_Mutation	SNP	ENST00000596652.1	hg19	CCDS12973.1	.	.	.	.	.	.	.	.	.	.	G	38	6.961201	0.97964	.	.	ENSG00000198131	ENST00000269829;ENST00000415203;ENST00000441758	.	.	.	2.9	0.64	0.17752	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	6.0361	0.19708	0.2927:0.0:0.7073:0.0	.	.	.	.	X	376;348;40	.	ENSP00000269829:G376X	G	+	1	0	ZNF544	63464910	0.047000	0.20315	0.028000	0.17463	0.580000	0.36256	1.013000	0.29937	0.102000	0.17638	0.491000	0.48974	GGA	.	.		0.438	ZNF544-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466754.1	NM_014480	
C20orf96	140680	hgsc.bcm.edu	37	20	259904	259904	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr20:259904A>G	ENST00000360321.2	-	5	512	c.374T>C	c.(373-375)cTc>cCc	p.L125P	C20orf96_ENST00000382369.5_Missense_Mutation_p.L90P|C20orf96_ENST00000400269.3_Missense_Mutation_p.L67P	NM_080571.1|NM_153269.2	NP_542138.1|NP_695001.2	Q9NUD7	CT096_HUMAN	chromosome 20 open reading frame 96	125										endometrium(3)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12		all_cancers(10;0.00959)|Lung NSC(37;0.227)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			CTCCCGGTTGAGCTTGCTGAG	0.672																																					p.L125P		Atlas-SNP	.											.	C20orf96	28	.	0			c.T374C						.						111.0	80.0	90.0					20																	259904		2203	4300	6503	SO:0001583	missense	140680	exon5			CGGTTGAGCTTGC	AL034548	CCDS12994.1, CCDS74685.1	20p13	2012-10-30			ENSG00000196476	ENSG00000196476			16227	protein-coding gene	gene with protein product							Standard	NM_153269		Approved	dJ1103G7.2	uc002wde.2	Q9NUD7	OTTHUMG00000031626	ENST00000360321.2:c.374T>C	chr20.hg19:g.259904A>G	ENSP00000353470:p.Leu125Pro	121.0	0.0		86.0	4.0	NM_153269	A3KPE0|B2RPH9|Q8N840|Q8NAX5	Missense_Mutation	SNP	ENST00000360321.2	hg19	CCDS12994.1	.	.	.	.	.	.	.	.	.	.	A	14.56	2.571013	0.45798	.	.	ENSG00000196476	ENST00000382369;ENST00000360321;ENST00000400269	T;T;T	0.46451	0.87;0.87;0.87	4.92	-0.136	0.13473	.	1.088790	0.07072	N	0.835671	T	0.42245	0.1194	L	0.50333	1.59	0.19775	N	0.999954	D;D;D;D	0.59767	0.986;0.986;0.986;0.986	P;P;P;P	0.54100	0.742;0.742;0.66;0.656	T	0.27606	-1.0069	10	0.30854	T	0.27	0.6675	1.006	0.01487	0.4052:0.1712:0.0932:0.3304	.	67;90;125;90	F5GZA9;B7Z971;Q9NUD7;Q5JYC3	.;.;CT096_HUMAN;.	P	90;125;67	ENSP00000371806:L90P;ENSP00000353470:L125P;ENSP00000383128:L67P	ENSP00000353470:L125P	L	-	2	0	C20orf96	207904	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.048000	0.11944	0.062000	0.16340	0.460000	0.39030	CTC	.	.		0.672	C20orf96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077439.2	NM_153269	
TMC2	117532	hgsc.bcm.edu	37	20	2593953	2593953	+	Missense_Mutation	SNP	C	C	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr20:2593953C>G	ENST00000358864.1	+	14	1872	c.1857C>G	c.(1855-1857)gaC>gaG	p.D619E	TMC2_ENST00000496948.1_3'UTR	NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	619					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						GGTGCTGGGACTTGGAGGCTG	0.483																																					p.D619E		Atlas-SNP	.											.	TMC2	121	.	0			c.C1857G						.						210.0	166.0	181.0					20																	2593953		2203	4300	6503	SO:0001583	missense	117532	exon14			CTGGGACTTGGAG	AF417580	CCDS13029.2	20p13	2010-08-05	2003-02-23		ENSG00000149488	ENSG00000149488			16527	protein-coding gene	gene with protein product		606707	"""transmembrane, cochlear expressed, 2"""	C20orf145		11850618, 12906855	Standard	XM_005260660		Approved	dJ686C3.3	uc002wgf.1	Q8TDI7	OTTHUMG00000031698	ENST00000358864.1:c.1857C>G	chr20.hg19:g.2593953C>G	ENSP00000351732:p.Asp619Glu	513.0	0.0		313.0	68.0	NM_080751	Q5JXT0|Q5JXT1|Q6UWW4|Q6ZS41|Q8N9F3|Q9BYN2|Q9BYN3|Q9BYN4|Q9BYN5	Missense_Mutation	SNP	ENST00000358864.1	hg19	CCDS13029.2	.	.	.	.	.	.	.	.	.	.	C	18.40	3.615110	0.66672	.	.	ENSG00000149488	ENST00000358864	T	0.62941	-0.01	4.93	1.94	0.25998	.	0.000000	0.85682	D	0.000000	T	0.76169	0.3950	M	0.82323	2.585	0.43819	D	0.996384	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.999;0.999;1.0	T	0.74262	-0.3722	10	0.87932	D	0	-26.7544	7.2386	0.26084	0.0:0.645:0.0:0.355	.	450;451;619;619	B4DFB3;B7ZAE6;Q8TDI7-3;Q8TDI7	.;.;.;TMC2_HUMAN	E	619	ENSP00000351732:D619E	ENSP00000351732:D619E	D	+	3	2	TMC2	2541953	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.052000	0.41316	0.235000	0.21160	0.655000	0.94253	GAC	.	.		0.483	TMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077601.2		
SIGLEC1	6614	hgsc.bcm.edu	37	20	3677238	3677238	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr20:3677238A>G	ENST00000344754.4	-	10	2677	c.2678T>C	c.(2677-2679)gTc>gCc	p.V893A	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.V893A	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	893	Ig-like C2-type 8.				cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						CTCACCTCGGACCTGGAAGAA	0.522																																					p.V893A		Atlas-SNP	.											.	SIGLEC1	210	.	0			c.T2678C						.						61.0	62.0	62.0					20																	3677238		2203	4300	6503	SO:0001583	missense	6614	exon10			CCTCGGACCTGGA	AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	11127	protein-coding gene	gene with protein product		600751	"""sialoadhesin"""	SN		8530048	Standard	XM_006723610		Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.2678T>C	chr20.hg19:g.3677238A>G	ENSP00000341141:p.Val893Ala	155.0	0.0		89.0	4.0	NM_023068	Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Missense_Mutation	SNP	ENST00000344754.4	hg19	CCDS13060.1	.	.	.	.	.	.	.	.	.	.	A	16.95	3.263835	0.59431	.	.	ENSG00000088827	ENST00000344754;ENST00000202578	D;D	0.87491	-2.26;-2.26	5.03	3.95	0.45737	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.37809	N	0.001940	D	0.90532	0.7033	L	0.60455	1.87	0.33325	D	0.567862	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.91646	0.5331	10	0.54805	T	0.06	.	8.8391	0.35131	0.9118:0.0:0.0882:0.0	.	893;893	Q9BZZ2;Q9BZZ2-3	SN_HUMAN;.	A	893	ENSP00000341141:V893A;ENSP00000202578:V893A	ENSP00000202578:V893A	V	-	2	0	SIGLEC1	3625238	0.999000	0.42202	0.998000	0.56505	0.969000	0.65631	2.845000	0.48254	0.956000	0.37904	0.533000	0.62120	GTC	.	.		0.522	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077761.2	NM_023068	
SIGLEC1	6614	hgsc.bcm.edu	37	20	3678483	3678483	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr20:3678483A>G	ENST00000344754.4	-	8	2083	c.2084T>C	c.(2083-2085)cTg>cCg	p.L695P	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.L695P	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	695	Ig-like C2-type 6.				cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						GGCGTTGCCCAGGGCATTGCT	0.612																																					p.L695P		Atlas-SNP	.											.	SIGLEC1	210	.	0			c.T2084C						.						63.0	44.0	51.0					20																	3678483		2203	4300	6503	SO:0001583	missense	6614	exon8			TTGCCCAGGGCAT	AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	11127	protein-coding gene	gene with protein product		600751	"""sialoadhesin"""	SN		8530048	Standard	XM_006723610		Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.2084T>C	chr20.hg19:g.3678483A>G	ENSP00000341141:p.Leu695Pro	101.0	0.0		69.0	4.0	NM_023068	Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Missense_Mutation	SNP	ENST00000344754.4	hg19	CCDS13060.1	.	.	.	.	.	.	.	.	.	.	A	18.71	3.682218	0.68042	.	.	ENSG00000088827	ENST00000344754;ENST00000202578	T;T	0.76060	-0.99;-0.99	5.54	5.54	0.83059	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.278833	0.19350	N	0.116415	D	0.87208	0.6120	M	0.89785	3.06	0.58432	D	0.999999	D;D	0.69078	0.997;0.992	D;D	0.69824	0.966;0.942	D	0.87372	0.2351	10	0.40728	T	0.16	.	11.9958	0.53201	1.0:0.0:0.0:0.0	.	695;695	Q9BZZ2;Q9BZZ2-3	SN_HUMAN;.	P	695	ENSP00000341141:L695P;ENSP00000202578:L695P	ENSP00000202578:L695P	L	-	2	0	SIGLEC1	3626483	0.305000	0.24481	0.993000	0.49108	0.824000	0.46624	2.044000	0.41241	2.326000	0.78906	0.533000	0.62120	CTG	.	.		0.612	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077761.2	NM_023068	
PLCB4	5332	hgsc.bcm.edu	37	20	9438138	9438138	+	Splice_Site	SNP	T	T	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr20:9438138T>A	ENST00000378493.1	+	30	3051		c.e30+2		PLCB4_ENST00000278655.4_Splice_Site|PLCB4_ENST00000378473.3_Splice_Site|PLCB4_ENST00000334005.3_Splice_Site|PLCB4_ENST00000378501.2_Splice_Site|PLCB4_ENST00000414679.2_Splice_Site|PLCB4_ENST00000492632.1_Splice_Site			Q15147	PLCB4_HUMAN	phospholipase C, beta 4						inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						AAATCTAAGGTAAGAAAATGC	0.353																																					.		Atlas-SNP	.											.	PLCB4	204	.	0			c.3072+2T>A						.						60.0	61.0	61.0					20																	9438138		2203	4300	6503	SO:0001630	splice_region_variant	5332	exon33			CTAAGGTAAGAAA		CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.3036+2T>A	chr20.hg19:g.9438138T>A		314.0	0.0		195.0	8.0	NM_001172646	B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Splice_Site	SNP	ENST00000378493.1	hg19	CCDS13105.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.177343	0.78564	.	.	ENSG00000101333	ENST00000334005;ENST00000378473;ENST00000278655;ENST00000378493;ENST00000378501;ENST00000414679	.	.	.	5.01	5.01	0.66863	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0161	0.71584	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	PLCB4	9386138	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.026000	0.76455	2.019000	0.59389	0.533000	0.62120	.	.	.		0.353	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077948.2		Intron
MGME1	92667	hgsc.bcm.edu	37	20	17968897	17968897	+	Missense_Mutation	SNP	G	G	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr20:17968897G>A	ENST00000377710.5	+	4	1108	c.820G>A	c.(820-822)Gca>Aca	p.A274T	MGME1_ENST00000467391.1_3'UTR|MGME1_ENST00000377709.1_Missense_Mutation_p.A194T|MGME1_ENST00000377704.4_Intron	NM_052865.2	NP_443097.1			mitochondrial genome maintenance exonuclease 1																		GCAAGTTGTGGCATACATGGG	0.408																																					p.A274T		Atlas-SNP	.											.	.	.	.	0			c.G820A						.						107.0	95.0	99.0					20																	17968897		2203	4300	6503	SO:0001583	missense	92667	exon4			GTTGTGGCATACA		CCDS13131.1	20p11.23	2013-08-29	2013-01-11	2013-01-11	ENSG00000125871	ENSG00000125871			16205	protein-coding gene	gene with protein product		615076	"""chromosome 20 open reading frame 72"""	C20orf72		23313956, 23358826, 23434322	Standard	NM_052865		Approved	bA504H3.4, DDK1	uc002wqh.3	Q9BQP7	OTTHUMG00000031955	ENST00000377710.5:c.820G>A	chr20.hg19:g.17968897G>A	ENSP00000366939:p.Ala274Thr	151.0	0.0		97.0	4.0	NM_052865		Missense_Mutation	SNP	ENST00000377710.5	hg19	CCDS13131.1	.	.	.	.	.	.	.	.	.	.	G	35	5.521357	0.96416	.	.	ENSG00000125871	ENST00000377710;ENST00000377709	T;T	0.73897	-0.79;-0.43	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	D	0.89343	0.6688	M	0.89601	3.045	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90977	0.4824	10	0.87932	D	0	-21.1275	19.2525	0.93930	0.0:0.0:1.0:0.0	.	274	Q9BQP7	CT072_HUMAN	T	274;194	ENSP00000366939:A274T;ENSP00000366938:A194T	ENSP00000366938:A194T	A	+	1	0	C20orf72	17916897	1.000000	0.71417	0.975000	0.42487	0.991000	0.79684	9.134000	0.94467	2.645000	0.89757	0.462000	0.41574	GCA	.	.		0.408	MGME1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078139.1	NM_052865	
DZANK1	55184	hgsc.bcm.edu	37	20	18407716	18407716	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr20:18407716G>A	ENST00000358866.6	-	9	971	c.949C>T	c.(949-951)Caa>Taa	p.Q317*	DZANK1_ENST00000487128.1_5'UTR|DZANK1_ENST00000329494.5_Nonsense_Mutation_p.Q319*|DZANK1_ENST00000262547.5_Nonsense_Mutation_p.Q317*|DZANK1_ENST00000357236.4_Nonsense_Mutation_p.Q203*			Q9NVP4	DZAN1_HUMAN	double zinc ribbon and ankyrin repeat domains 1	317							zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(10)	19						CCTACCTCTTGTGATGAAGGC	0.468																																					p.Q317X		Atlas-SNP	.											.	DZANK1	65	.	0			c.C949T						.						64.0	66.0	65.0					20																	18407716		1893	4116	6009	SO:0001587	stop_gained	55184	exon10			CCTCTTGTGATGA	AK001462	CCDS46582.1	20p11.23	2013-01-11	2011-10-03	2011-10-03	ENSG00000089091	ENSG00000089091		"""Ankyrin repeat domain containing"""	15858	protein-coding gene	gene with protein product	"""ankyrin repeat domain 64"""		"""chromosome 20 open reading frame 12"""	C20orf84, C20orf12			Standard	NM_001099407		Approved	FLJ10600, dJ568F9.2, FLJ30892, bA189K21.8, ANKRD64	uc002wqq.4	Q9NVP4	OTTHUMG00000031968	ENST00000358866.6:c.949C>T	chr20.hg19:g.18407716G>A	ENSP00000351734:p.Gln317*	98.0	0.0		75.0	18.0	NM_001099407	B7ZLZ4|Q4F7X1|Q5QPD9|Q5QPE0|Q68DN8|Q6ZMX9|Q96NF0|Q9H1E0|Q9H442	Nonsense_Mutation	SNP	ENST00000358866.6	hg19	CCDS46582.1	.	.	.	.	.	.	.	.	.	.	G	37	6.180095	0.97352	.	.	ENSG00000089091	ENST00000377630;ENST00000262547;ENST00000329494;ENST00000414623;ENST00000377637;ENST00000357236	.	.	.	5.63	0.645	0.17782	.	1.457470	0.03627	N	0.237380	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	0.4985	6.7012	0.23227	0.0899:0.0:0.4749:0.4352	.	.	.	.	X	144;317;319;143;143;203	.	ENSP00000262547:Q317X	Q	-	1	0	C20orf12	18355716	0.806000	0.28996	0.012000	0.15200	0.376000	0.30014	1.083000	0.30815	0.259000	0.21709	0.655000	0.94253	CAA	.	.		0.468	DZANK1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000471926.1	NM_001099407	
DZANK1	55184	hgsc.bcm.edu	37	20	18414338	18414338	+	Silent	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr20:18414338A>G	ENST00000358866.6	-	8	841	c.819T>C	c.(817-819)ccT>ccC	p.P273P	DZANK1_ENST00000487128.1_5'UTR|DZANK1_ENST00000329494.5_Silent_p.P275P|DZANK1_ENST00000262547.5_Silent_p.P273P|DZANK1_ENST00000357236.4_Silent_p.P159P|RNA5SP476_ENST00000516613.1_RNA			Q9NVP4	DZAN1_HUMAN	double zinc ribbon and ankyrin repeat domains 1	273							zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(10)	19						GTAGAGCAAGAGGGGCCTCAC	0.453																																					p.P273P		Atlas-SNP	.											.	DZANK1	65	.	0			c.T819C						.						84.0	87.0	86.0					20																	18414338		2007	4171	6178	SO:0001819	synonymous_variant	55184	exon9			AGCAAGAGGGGCC	AK001462	CCDS46582.1	20p11.23	2013-01-11	2011-10-03	2011-10-03	ENSG00000089091	ENSG00000089091		"""Ankyrin repeat domain containing"""	15858	protein-coding gene	gene with protein product	"""ankyrin repeat domain 64"""		"""chromosome 20 open reading frame 12"""	C20orf84, C20orf12			Standard	NM_001099407		Approved	FLJ10600, dJ568F9.2, FLJ30892, bA189K21.8, ANKRD64	uc002wqq.4	Q9NVP4	OTTHUMG00000031968	ENST00000358866.6:c.819T>C	chr20.hg19:g.18414338A>G		142.0	0.0		87.0	4.0	NM_001099407	B7ZLZ4|Q4F7X1|Q5QPD9|Q5QPE0|Q68DN8|Q6ZMX9|Q96NF0|Q9H1E0|Q9H442	Silent	SNP	ENST00000358866.6	hg19	CCDS46582.1	.	.	.	.	.	.	.	.	.	.	A	3.159	-0.172490	0.06421	.	.	ENSG00000089091	ENST00000358866	.	.	.	4.97	-9.01	0.00744	.	.	.	.	.	T	0.27205	0.0667	.	.	.	0.20074	N	0.999938	.	.	.	.	.	.	T	0.31806	-0.9930	4	.	.	.	-1.1565	9.8516	0.41059	0.1698:0.5189:0.3114:0.0	.	.	.	.	P	72	.	.	L	-	2	0	C20orf12	18362338	0.083000	0.21467	0.001000	0.08648	0.377000	0.30045	-0.957000	0.03861	-1.547000	0.01715	-0.313000	0.08912	CTC	.	.		0.453	DZANK1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000471926.1	NM_001099407	
ABHD12	26090	hgsc.bcm.edu	37	20	25284191	25284191	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr20:25284191T>C	ENST00000339157.5	-	11	1296	c.1024A>G	c.(1024-1026)Aga>Gga	p.R342G	ABHD12_ENST00000376542.3_Missense_Mutation_p.R342G	NM_001042472.2	NP_001035937.1	Q8N2K0	ABD12_HUMAN	abhydrolase domain containing 12	342					adult walking behavior (GO:0007628)|phosphatidylserine catabolic process (GO:0006660)|response to auditory stimulus (GO:0010996)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)	acylglycerol lipase activity (GO:0047372)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(1)|skin(1)|urinary_tract(1)	12						CCCACCTTTCTGCCAAGCTGG	0.637																																					p.R342G		Atlas-SNP	.											.	ABHD12	46	.	0			c.A1024G						.						95.0	65.0	75.0					20																	25284191		2203	4300	6503	SO:0001583	missense	26090	exon11			CCTTTCTGCCAAG	AL117442	CCDS13172.1, CCDS42857.1	20p11.21	2007-04-24	2006-03-10	2006-03-10	ENSG00000100997	ENSG00000100997		"""Abhydrolase domain containing"""	15868	protein-coding gene	gene with protein product		613599	"""chromosome 20 open reading frame 22"""	C20orf22			Standard	NM_015600		Approved	DKFZP434P106, dJ965G21.2, BEM46L2, ABHD12A	uc002wuq.3	Q8N2K0	OTTHUMG00000032121	ENST00000339157.5:c.1024A>G	chr20.hg19:g.25284191T>C	ENSP00000341408:p.Arg342Gly	38.0	0.0		35.0	4.0	NM_001042472	A6NED4|A6NJ90|A8K450|B4DE71|Q5T710|Q5T711|Q96CR1|Q9BX05|Q9NPX7|Q9UFV6	Missense_Mutation	SNP	ENST00000339157.5	hg19	CCDS42857.1	.	.	.	.	.	.	.	.	.	.	T	17.10	3.303914	0.60305	.	.	ENSG00000100997	ENST00000376542;ENST00000339157;ENST00000526543	T;T	0.24350	1.86;1.86	5.23	5.23	0.72850	.	0.088799	0.85682	D	0.000000	T	0.29588	0.0738	M	0.73372	2.23	0.45648	D	0.998579	B;P;P	0.39717	0.038;0.684;0.646	B;B;B	0.34536	0.03;0.185;0.164	T	0.19063	-1.0317	10	0.62326	D	0.03	-21.1429	15.2379	0.73447	0.0:0.0:0.0:1.0	.	304;342;342	Q8N2K0-3;Q8N2K0;Q8N2K0-2	.;ABD12_HUMAN;.	G	342;342;304	ENSP00000365725:R342G;ENSP00000341408:R342G	ENSP00000341408:R342G	R	-	1	2	ABHD12	25232191	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	2.945000	0.49043	2.319000	0.78375	0.533000	0.62120	AGA	.	.		0.637	ABHD12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078423.2	NM_015600	
CPNE1	8904	hgsc.bcm.edu	37	20	34215233	34215233	+	Missense_Mutation	SNP	G	G	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr20:34215233G>A	ENST00000317619.3	-	16	1599	c.1205C>T	c.(1204-1206)gCa>gTa	p.A402V	CPNE1_ENST00000397445.1_Missense_Mutation_p.A402V|CPNE1_ENST00000352393.4_Missense_Mutation_p.A402V|CPNE1_ENST00000397446.1_Missense_Mutation_p.A402V|CPNE1_ENST00000397443.1_Missense_Mutation_p.A402V|CPNE1_ENST00000317677.5_Missense_Mutation_p.A407V|CPNE1_ENST00000397442.1_Missense_Mutation_p.A402V			Q99829	CPNE1_HUMAN	copine I	402	VWFA.				lipid metabolic process (GO:0006629)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)	calcium-dependent phospholipid binding (GO:0005544)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			breast(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			AGCCTGGGCTGCAAACCTGGC	0.582																																					p.A407V		Atlas-SNP	.											.	CPNE1	44	.	0			c.C1220T						.						101.0	87.0	92.0					20																	34215233		2203	4300	6503	SO:0001583	missense	8904	exon14			TGGGCTGCAAACC	U83246	CCDS13260.1, CCDS46595.1	20q11.22	2009-06-01			ENSG00000214078	ENSG00000214078			2314	protein-coding gene	gene with protein product		604205				9430674	Standard	NM_152925		Approved	CPN1	uc002xdm.3	Q99829	OTTHUMG00000032356	ENST00000317619.3:c.1205C>T	chr20.hg19:g.34215233G>A	ENSP00000326126:p.Ala402Val	141.0	0.0		120.0	5.0	NM_003915	E1P5Q4|Q6IBL3|Q9H243|Q9NTZ7	Missense_Mutation	SNP	ENST00000317619.3	hg19	CCDS13260.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.555230|5.555230	0.96514|0.96514	.|.	.|.	ENSG00000214078|ENSG00000214078	ENST00000352393;ENST00000317677;ENST00000317619;ENST00000397446;ENST00000397445;ENST00000397443;ENST00000397442;ENST00000437340;ENST00000430570|ENST00000415920	T;T;T;T;T;T;T;T;T|.	0.24350|.	1.86;1.86;1.86;1.86;1.86;1.86;1.86;1.86;1.86|.	5.06|5.06	5.06|5.06	0.68205|0.68205	von Willebrand factor, type A (1);Copine (1);|.	0.000000|.	0.85682|.	U|.	0.000000|.	T|.	0.74627|.	0.3741|.	M|M	0.70903|0.70903	2.155|2.155	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.89917|.	0.988;1.0;0.999;1.0;1.0|.	D;D;D;D;D|.	0.91635|.	0.936;0.993;0.996;0.999;0.999|.	T|.	0.74093|.	-0.3776|.	10|.	0.72032|.	D|.	0.01|.	-17.6519|-17.6519	17.3695|17.3695	0.87372|0.87372	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	407;402;402;382;402|.	B0QZ18;A6PVH9;Q99829;Q59EI4;F2Z2V0|.	.;.;CPNE1_HUMAN;.;.|.	V|X	402;407;402;402;402;402;402;402;378|41	ENSP00000336945:A402V;ENSP00000317257:A407V;ENSP00000326126:A402V;ENSP00000380588:A402V;ENSP00000380587:A402V;ENSP00000380585:A402V;ENSP00000380584:A402V;ENSP00000415597:A402V;ENSP00000390626:A378V|.	ENSP00000326126:A402V|.	A|Q	-|-	2|1	0|0	CPNE1|CPNE1	33678647|33678647	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	9.629000|9.629000	0.98417|0.98417	2.627000|2.627000	0.88993|0.88993	0.563000|0.563000	0.77884|0.77884	GCA|CAG	.	.		0.582	CPNE1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078909.3	NM_152930	
EPB41L1	2036	hgsc.bcm.edu	37	20	34765929	34765929	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr20:34765929T>C	ENST00000338074.2	+	4	559	c.398T>C	c.(397-399)cTa>cCa	p.L133P	EPB41L1_ENST00000373941.1_Missense_Mutation_p.L133P|EPB41L1_ENST00000441639.1_Missense_Mutation_p.L71P|EPB41L1_ENST00000373950.2_Intron|EPB41L1_ENST00000202028.5_Missense_Mutation_p.L71P|EPB41L1_ENST00000373946.3_Missense_Mutation_p.L102P	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	133	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cortical actin cytoskeleton organization (GO:0030866)|synaptic transmission (GO:0007268)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					CTCAACCTCCTAGAGAAGGAC	0.582																																					p.L133P		Atlas-SNP	.											.	EPB41L1	111	.	0			c.T398C						.						126.0	102.0	110.0					20																	34765929		2203	4300	6503	SO:0001583	missense	2036	exon5			ACCTCCTAGAGAA	AB002336	CCDS13271.1, CCDS13272.1, CCDS58771.1	20q11.2-q12	2003-03-17			ENSG00000088367	ENSG00000088367			3378	protein-coding gene	gene with protein product		602879				9570967, 9828140	Standard	NM_012156		Approved	KIAA0338	uc002xfb.3	Q9H4G0	OTTHUMG00000032378	ENST00000338074.2:c.398T>C	chr20.hg19:g.34765929T>C	ENSP00000337168:p.Leu133Pro	102.0	0.0		94.0	4.0	NM_001258329	O15046|Q4VXM6|Q4VXM7|Q4VXM8|Q4VXN4|Q6ZT61|Q8IUU7|Q96CV5|Q96L65	Missense_Mutation	SNP	ENST00000338074.2	hg19	CCDS13271.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.415320	0.83449	.	.	ENSG00000088367	ENST00000202028;ENST00000406771;ENST00000430276;ENST00000397315;ENST00000452261;ENST00000397307;ENST00000441639;ENST00000373946;ENST00000373945;ENST00000338074;ENST00000373941	T;T;T;T;T;T;T;T;T	0.76839	-1.05;-1.05;-1.05;-1.05;-1.05;-1.05;-1.05;-1.05;-1.05	5.4	5.4	0.78164	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);	.	.	.	.	D	0.88145	0.6358	M	0.80746	2.51	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;1.0;0.999;1.0	D;D;D;D;D	0.97110	0.988;1.0;0.999;0.969;0.992	D	0.89753	0.3941	9	0.87932	D	0	.	14.5515	0.68070	0.0:0.0:0.0:1.0	.	133;133;133;102;71	B7Z653;Q9H4G0;Q4VXN5;Q9H4G0-4;Q9H4G0-2	.;E41L1_HUMAN;.;.;.	P	71;133;71;133;133;71;71;102;71;133;133	ENSP00000202028:L71P;ENSP00000385244:L133P;ENSP00000404341:L71P;ENSP00000413262:L133P;ENSP00000399214:L71P;ENSP00000363057:L102P;ENSP00000363056:L71P;ENSP00000337168:L133P;ENSP00000363052:L133P	ENSP00000202028:L71P	L	+	2	0	EPB41L1	34229343	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.997000	0.88414	2.168000	0.68352	0.533000	0.62120	CTA	.	.		0.582	EPB41L1-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078978.3	NM_012156	
MAFB	9935	hgsc.bcm.edu	37	20	39316659	39316659	+	Missense_Mutation	SNP	C	C	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr20:39316659C>T	ENST00000373313.2	-	1	1221	c.832G>A	c.(832-834)Gag>Aag	p.E278K	MAFB_ENST00000396967.1_Missense_Mutation_p.E278K	NM_005461.3	NP_005452.2	Q9Y5Q3	MAFB_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B	278	Leucine-zipper. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				brain segmentation (GO:0035284)|inner ear morphogenesis (GO:0042472)|negative regulation of erythrocyte differentiation (GO:0045647)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|respiratory gaseous exchange (GO:0007585)|rhombomere 5 development (GO:0021571)|rhombomere 6 development (GO:0021572)|segment specification (GO:0007379)|sensory organ development (GO:0007423)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			kidney(1)|large_intestine(1)	2		Myeloproliferative disorder(115;0.00878)				TTAAGCTGCTCCACCTGCTGA	0.607			T	IGH@	MM																																p.E278K		Atlas-SNP	.		Dom	yes		20	20q11.2-q13.1	9935	v-maf musculoaponeurotic fibrosarcoma oncogene homolog B (avian)		L	.	MAFB	13	.	0			c.G832A						.						77.0	79.0	78.0					20																	39316659		2203	4300	6503	SO:0001583	missense	9935	exon1			GCTGCTCCACCTG	AF134157	CCDS13311.1	20q11.1-q13.1	2013-07-09	2013-07-09	2001-11-30	ENSG00000204103	ENSG00000204103			6408	protein-coding gene	gene with protein product		608968	"""Kreisler (mouse) maf-related leucine zipper homolog"""	KRML		10444328	Standard	NM_005461		Approved		uc002xji.3	Q9Y5Q3	OTTHUMG00000033052	ENST00000373313.2:c.832G>A	chr20.hg19:g.39316659C>T	ENSP00000362410:p.Glu278Lys	124.0	0.0		94.0	4.0	NM_005461	B3KNE1|Q9H1F1	Missense_Mutation	SNP	ENST00000373313.2	hg19	CCDS13311.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.188441	0.78789	.	.	ENSG00000204103	ENST00000373313;ENST00000396967	D;D	0.91686	-2.89;-2.89	4.36	3.42	0.39159	Basic-leucine zipper (bZIP) transcription factor (2);Maf transcription factor (1);	0.000000	0.85682	D	0.000000	D	0.94499	0.8229	M	0.68317	2.08	0.80722	D	1	D	0.69078	0.997	D	0.69307	0.963	D	0.94172	0.7424	10	0.59425	D	0.04	.	12.1756	0.54184	0.0:0.9165:0.0:0.0835	.	278	Q9Y5Q3	MAFB_HUMAN	K	278	ENSP00000362410:E278K;ENSP00000380167:E278K	ENSP00000362410:E278K	E	-	1	0	MAFB	38750073	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.606000	0.82863	1.077000	0.40990	0.456000	0.33151	GAG	.	.		0.607	MAFB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080375.2		
ADA	100	hgsc.bcm.edu	37	20	43257689	43257689	+	Splice_Site	SNP	C	C	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr20:43257689C>T	ENST00000372874.4	-	3	351	c.217G>A	c.(217-219)Gcg>Acg	p.A73T	ADA_ENST00000464097.1_5'Flank|ADA_ENST00000537820.1_Splice_Site_p.A73T	NM_000022.2	NP_000013.2	P00813	ADA_HUMAN	adenosine deaminase	73					adenosine catabolic process (GO:0006154)|aging (GO:0007568)|cell adhesion (GO:0007155)|dATP catabolic process (GO:0046061)|deoxyadenosine catabolic process (GO:0006157)|embryonic digestive tract development (GO:0048566)|germinal center B cell differentiation (GO:0002314)|histamine secretion (GO:0001821)|hypoxanthine salvage (GO:0043103)|inosine biosynthetic process (GO:0046103)|liver development (GO:0001889)|lung alveolus development (GO:0048286)|negative regulation of adenosine receptor signaling pathway (GO:0060169)|negative regulation of circadian sleep/wake cycle, non-REM sleep (GO:0042323)|negative regulation of inflammatory response (GO:0050728)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of mature B cell apoptotic process (GO:0002906)|negative regulation of mucus secretion (GO:0070256)|negative regulation of penile erection (GO:0060407)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleobase-containing small molecule metabolic process (GO:0055086)|Peyer's patch development (GO:0048541)|placenta development (GO:0001890)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of germinal center formation (GO:0002636)|positive regulation of heart rate (GO:0010460)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of T cell receptor signaling pathway (GO:0050862)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide salvage (GO:0032261)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|purine-containing compound salvage (GO:0043101)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to hypoxia (GO:0001666)|response to morphine (GO:0043278)|response to vitamin E (GO:0033197)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|trophectodermal cell differentiation (GO:0001829)|xanthine biosynthetic process (GO:0046111)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|lysosome (GO:0005764)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenosine deaminase activity (GO:0004000)|purine nucleoside binding (GO:0001883)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(2)|prostate(3)|skin(2)|urinary_tract(1)	18		all_lung(126;1.24e-07)|Lung NSC(126;1.94e-07)|Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)		Adenosine(DB00640)|Dipyridamole(DB00975)|Edetic Acid(DB00974)|Nelarabine(DB01280)|Pentostatin(DB00552)|Theophylline(DB00277)|Vidarabine(DB00194)	GCAACTCACGCGATAGCAGGC	0.577									Adenosine Deaminase Deficiency																												p.A73T		Atlas-SNP	.											ADA,NS,carcinoma,0,1	ADA	42	.	0			c.G217A						.						164.0	119.0	134.0					20																	43257689		2203	4300	6503	SO:0001630	splice_region_variant	100	exon3	Familial Cancer Database	Severe Combined Immunodeficiency (SCID) due to ADA-deficiency	CTCACGCGATAGC	X02994	CCDS13335.1	20q13.12	2014-09-17			ENSG00000196839	ENSG00000196839	3.5.4.4		186	protein-coding gene	gene with protein product		608958				6198240, 6090454	Standard	NM_000022		Approved		uc002xmj.3	P00813	OTTHUMG00000033081	ENST00000372874.4:c.218+1G>A	chr20.hg19:g.43257689C>T		93.0	0.0		48.0	3.0	NM_000022	Q53F92|Q6LA59	Missense_Mutation	SNP	ENST00000372874.4	hg19	CCDS13335.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.685211	0.88639	.	.	ENSG00000196839	ENST00000372874;ENST00000537820	D;D	0.95412	-3.7;-3.7	5.84	5.84	0.93424	Adenosine/AMP deaminase (1);	0.049571	0.85682	D	0.000000	D	0.94751	0.8306	M	0.68728	2.09	0.80722	D	1	D	0.56521	0.976	P	0.44447	0.45	D	0.93126	0.6529	10	0.21014	T	0.42	-0.9005	18.8993	0.92435	0.0:1.0:0.0:0.0	.	73	P00813	ADA_HUMAN	T	73	ENSP00000361965:A73T;ENSP00000441818:A73T	ENSP00000361965:A73T	A	-	1	0	ADA	42691103	1.000000	0.71417	0.965000	0.40720	0.698000	0.40448	6.505000	0.73708	2.768000	0.95171	0.561000	0.74099	GCG	.	.		0.577	ADA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080509.2	NM_000022	Missense_Mutation
PABPC1L	80336	hgsc.bcm.edu	37	20	43552887	43552887	+	Missense_Mutation	SNP	C	C	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr20:43552887C>T	ENST00000217073.2	+	7	962	c.962C>T	c.(961-963)aCc>aTc	p.T321I	PABPC1L_ENST00000255136.3_Missense_Mutation_p.T321I|PABPC1L_ENST00000537323.1_Missense_Mutation_p.T321I|PABPC1L_ENST00000490798.1_3'UTR|PABPC1L_ENST00000217074.4_Missense_Mutation_p.T321I			Q4VXU2	PAP1L_HUMAN	poly(A) binding protein, cytoplasmic 1-like	321	RRM 4. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA polyadenylation (GO:0006378)|oocyte maturation (GO:0001556)	extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20						GGAGTAATTACCAGTGCGAAG	0.572																																					p.T321I		Atlas-SNP	.											.	PABPC1L	59	.	0			c.C962T						.						106.0	97.0	100.0					20																	43552887		1568	3582	5150	SO:0001583	missense	80336	exon7			TAATTACCAGTGC	AK026760	CCDS42878.1	20q12-q13.1	2013-02-12	2007-11-21	2007-11-21	ENSG00000101104	ENSG00000101104		"""RNA binding motif (RRM) containing"""	15797	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 119"""	C20orf119		11549316	Standard	NM_001124756		Approved	dJ1069P2.3, PABPC1L1, ePAB	uc010ggv.1	Q4VXU2	OTTHUMG00000032553	ENST00000217073.2:c.962C>T	chr20.hg19:g.43552887C>T	ENSP00000217073:p.Thr321Ile	63.0	0.0		44.0	4.0	NM_001124756	Q4VY17	Missense_Mutation	SNP	ENST00000217073.2	hg19	CCDS42878.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.732363	0.89482	.	.	ENSG00000101104	ENST00000217074;ENST00000255136;ENST00000537323;ENST00000217073	T;T;T;T	0.16073	2.37;2.37;2.37;2.37	5.32	5.32	0.75619	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.29620	0.0739	L	0.31065	0.9	0.80722	D	1	D	0.58268	0.982	P	0.60949	0.881	T	0.02498	-1.1150	10	0.72032	D	0.01	.	18.5905	0.91210	0.0:1.0:0.0:0.0	.	321	Q4VXU2	PAP1L_HUMAN	I	321	ENSP00000217074:T321I;ENSP00000255136:T321I;ENSP00000445661:T321I;ENSP00000217073:T321I	ENSP00000217073:T321I	T	+	2	0	PABPC1L	42986301	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	7.723000	0.84788	2.496000	0.84212	0.655000	0.94253	ACC	.	.		0.572	PABPC1L-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127816.2		
EPPIN	57119	hgsc.bcm.edu	37	20	44171499	44171499	+	Nonsense_Mutation	SNP	G	G	T	rs570448304		TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr20:44171499G>T	ENST00000354280.4	-	3	297	c.231C>A	c.(229-231)tgC>tgA	p.C77*	EPPIN_ENST00000336443.3_Nonsense_Mutation_p.C61*|EPPIN_ENST00000409554.1_Intron|EPPIN_ENST00000555685.1_Nonsense_Mutation_p.C77*|EPPIN-WFDC6_ENST00000504988.1_Nonsense_Mutation_p.C77*	NM_020398.3	NP_065131.1	O95925	EPPI_HUMAN	epididymal peptidase inhibitor	77	BPTI/Kunitz inhibitor. {ECO:0000255|PROSITE-ProRule:PRU00031}.				defense response to bacterium (GO:0042742)|negative regulation of peptidase activity (GO:0010466)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.C61C(2)									TTGGCATTTCGCATACATCTG	0.433																																					p.C77X		Atlas-SNP	.											SPINLW1_ENST00000336443,NS,carcinoma,0,5	.	.	.	2	Substitution - coding silent(2)	prostate(2)	c.C231A						.						80.0	79.0	79.0					20																	44171499		2203	4300	6503	SO:0001587	stop_gained	100526773	exon3			CATTTCGCATACA	AF286370	CCDS13359.1	20q13.12	2014-01-21	2012-08-22	2012-08-22	ENSG00000101448	ENSG00000101448		"""WAP four-disulfide core domain containing"""	15932	protein-coding gene	gene with protein product	"""epididymal protease inhibitor"", ""cancer/testis antigen 72"""	609031	"""serine protease inhibitor-like, with Kunitz and WAP domains 1 (eppin)"", ""serine peptidase inhibitor-like, with Kunitz and WAP domains 1 (eppin)"""	SPINLW1		11404006, 12206714	Standard	NM_020398		Approved	EPPIN1, EPPIN2, EPPIN3, dJ461P17.2, WAP7, WFDC7, CT71		O95925	OTTHUMG00000032588	ENST00000354280.4:c.231C>A	chr20.hg19:g.44171499G>T	ENSP00000361746:p.Cys77*	162.0	1.0		125.0	0.0	NM_001198986	A6PVD6|Q86TP9|Q96SD7|Q9HD30	Nonsense_Mutation	SNP	ENST00000354280.4	hg19	CCDS13359.1	.	.	.	.	.	.	.	.	.	.	G	31	5.059737	0.93846	.	.	ENSG00000101448;ENSG00000101448;ENSG00000101448;ENSG00000249139	ENST00000555685;ENST00000354280;ENST00000336443;ENST00000504988	.	.	.	4.41	0.197	0.15164	.	0.414326	0.23296	N	0.049738	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.4015	0.38435	0.331:0.0:0.669:0.0	.	.	.	.	X	77;77;61;77	.	ENSP00000338114:C61X	C	-	3	2	SPINLW1;SPINLW1-WFDC6	43604913	0.876000	0.30132	0.002000	0.10522	0.000000	0.00434	1.041000	0.30291	-0.220000	0.09988	-2.317000	0.00253	TGC	.	.		0.433	EPPIN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079467.4		
STAU1	6780	hgsc.bcm.edu	37	20	47739657	47739657	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr20:47739657A>G	ENST00000371856.2	-	8	1348	c.938T>C	c.(937-939)cTc>cCc	p.L313P	STAU1_ENST00000371802.1_Missense_Mutation_p.L238P|STAU1_ENST00000371828.3_Missense_Mutation_p.L238P|STAU1_ENST00000347458.5_Missense_Mutation_p.L232P|STAU1_ENST00000371792.1_Missense_Mutation_p.L230P|STAU1_ENST00000340954.7_Missense_Mutation_p.L232P|STAU1_ENST00000360426.4_Missense_Mutation_p.L232P	NM_017453.2	NP_059347.2	O95793	STAU1_HUMAN	staufen double-stranded RNA binding protein 1	313	DRBM 3. {ECO:0000255|PROSITE- ProRule:PRU00266}.				intracellular mRNA localization (GO:0008298)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|rough endoplasmic reticulum (GO:0005791)	double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			GCGGCGCGGGAGGCCTCGCTC	0.612																																					p.L313P		Atlas-SNP	.											.	STAU1	54	.	0			c.T938C						.						77.0	60.0	66.0					20																	47739657		2203	4300	6503	SO:0001583	missense	6780	exon8			CGCGGGAGGCCTC		CCDS13414.1, CCDS13415.1, CCDS33481.1	20q13.1	2014-06-13	2013-06-05	2005-11-04	ENSG00000124214	ENSG00000124214			11370	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 150"""	601716	"""staufen (Drosophila, RNA-binding protein)"", ""staufen, RNA binding protein (Drosophila)"", ""staufen, RNA binding protein, homolog 1 (Drosophila)"""	STAU		8884277, 15680326	Standard	XM_005260524		Approved	PPP1R150	uc002xud.3	O95793	OTTHUMG00000032691	ENST00000371856.2:c.938T>C	chr20.hg19:g.47739657A>G	ENSP00000360922:p.Leu313Pro	166.0	0.0		92.0	4.0	NM_017453	A8K9Z4|E1P5Y1|E1P608|Q5JW29|Q6GTM4|Q9H5B4|Q9H5B5|Q9Y3Q2	Missense_Mutation	SNP	ENST00000371856.2	hg19	CCDS13414.1	.	.	.	.	.	.	.	.	.	.	A	26.9	4.785054	0.90282	.	.	ENSG00000124214	ENST00000371828;ENST00000340954;ENST00000371856;ENST00000360426;ENST00000347458;ENST00000371805;ENST00000371802;ENST00000371792	T;T;T;T;T;T;T	0.72167	-0.63;-0.63;-0.63;-0.63;-0.63;-0.63;-0.63	5.19	5.19	0.71726	Double-stranded RNA-binding (3);Double-stranded RNA-binding-like (1);	0.000000	0.85682	D	0.000000	T	0.65606	0.2707	N	0.02296	-0.605	0.80722	D	1	D;D	0.76494	0.994;0.999	D;D	0.70227	0.953;0.968	T	0.77259	-0.2654	10	0.66056	D	0.02	-11.1605	15.0426	0.71803	1.0:0.0:0.0:0.0	.	313;238	O95793;Q5JW29	STAU1_HUMAN;.	P	238;232;313;232;232;232;238;230	ENSP00000360893:L238P;ENSP00000345425:L232P;ENSP00000360922:L313P;ENSP00000353604:L232P;ENSP00000323443:L232P;ENSP00000360867:L238P;ENSP00000360857:L230P	ENSP00000345425:L232P	L	-	2	0	STAU1	47173064	1.000000	0.71417	0.987000	0.45799	0.990000	0.78478	9.339000	0.96797	1.939000	0.56221	0.528000	0.53228	CTC	.	.		0.612	STAU1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079633.1	NM_017453	
NFATC2	4773	hgsc.bcm.edu	37	20	50071199	50071199	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr20:50071199T>C	ENST00000396009.3	-	6	1954	c.1735A>G	c.(1735-1737)Atg>Gtg	p.M579V	NFATC2_ENST00000609507.1_Missense_Mutation_p.M360V|NFATC2_ENST00000371564.3_Missense_Mutation_p.M579V|NFATC2_ENST00000609943.1_Missense_Mutation_p.M559V|NFATC2_ENST00000610033.1_Missense_Mutation_p.M360V|MIR3194_ENST00000582236.1_RNA|NFATC2_ENST00000414705.1_Missense_Mutation_p.M559V	NM_001258297.1|NM_173091.3	NP_001245226.1|NP_775114.1	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	579					B cell receptor signaling pathway (GO:0050853)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					CTTTCAACCATGGGCAGCTCG	0.507																																					p.M579V		Atlas-SNP	.											.	NFATC2	112	.	0			c.A1735G						.						152.0	149.0	150.0					20																	50071199		2203	4300	6503	SO:0001583	missense	4773	exon6			CAACCATGGGCAG	U43342, U43341	CCDS13437.1, CCDS33488.1, CCDS46614.1, CCDS68156.1, CCDS68157.1	20q13.2	2009-11-24			ENSG00000101096	ENSG00000101096		"""Nuclear factor of activated T-cells"""	7776	protein-coding gene	gene with protein product		600490				8202141	Standard	NM_012340		Approved	NF-ATP, NFATp, NFAT1	uc002xwd.4	Q13469	OTTHUMG00000032747	ENST00000396009.3:c.1735A>G	chr20.hg19:g.50071199T>C	ENSP00000379330:p.Met579Val	120.0	0.0		98.0	5.0	NM_012340	B5B2N8|B5B2N9|B5B2P0|B5B2P2|B5B2P3|Q13468|Q5TFW7|Q5TFW8|Q9NPX6|Q9NQH3|Q9UJR2	Missense_Mutation	SNP	ENST00000396009.3	hg19	CCDS13437.1	.	.	.	.	.	.	.	.	.	.	T	14.48	2.547800	0.45383	.	.	ENSG00000101096	ENST00000371564;ENST00000396009;ENST00000414705	T;T;T	0.13657	2.57;2.57;2.58	5.8	3.45	0.39498	Cell surface receptor IPT/TIG (1);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.041569	0.85682	D	0.000000	T	0.10165	0.0249	N	0.19112	0.55	0.42017	D	0.990964	P;B;P;P	0.48230	0.907;0.399;0.846;0.907	P;B;P;P	0.44860	0.462;0.097;0.462;0.462	T	0.12218	-1.0556	10	0.52906	T	0.07	-25.9878	7.9868	0.30216	0.1284:0.0:0.2685:0.603	.	559;559;579;579	B5B2N9;B5B2P2;Q13469;B5B2N8	.;.;NFAC2_HUMAN;.	V	579;579;559	ENSP00000360619:M579V;ENSP00000379330:M579V;ENSP00000396471:M559V	ENSP00000360619:M579V	M	-	1	0	NFATC2	49504606	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	4.603000	0.61105	0.410000	0.25675	0.528000	0.53228	ATG	.	.		0.507	NFATC2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079730.2	NM_012340	
CASS4	57091	hgsc.bcm.edu	37	20	55027971	55027971	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr20:55027971T>C	ENST00000360314.3	+	6	1964	c.1739T>C	c.(1738-1740)gTc>gCc	p.V580A	CASS4_ENST00000371336.3_Missense_Mutation_p.V580A|CASS4_ENST00000434344.1_Intron	NM_001164116.1	NP_001157588.1	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	580					cell adhesion (GO:0007155)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						GCCTCCATTGTCATTGCCAAT	0.463																																					p.V580A		Atlas-SNP	.											.	CASS4	121	.	0			c.T1739C						.						78.0	76.0	77.0					20																	55027971		2203	4300	6503	SO:0001583	missense	57091	exon5			CCATTGTCATTGC	AJ276678	CCDS33492.1, CCDS54475.1	20q13.31	2011-04-13	2008-04-14	2008-04-15	ENSG00000087589	ENSG00000087589		"""Cas scaffolding proteins"""	15878	protein-coding gene	gene with protein product	"""HEF-like protein"", ""HEF1-Efs-p130Cas-like"""		"""chromosome 20 open reading frame 32"""	C20orf32			Standard	NM_020356		Approved	HEFL, HEPL	uc002xxr.2	Q9NQ75	OTTHUMG00000032788	ENST00000360314.3:c.1739T>C	chr20.hg19:g.55027971T>C	ENSP00000353462:p.Val580Ala	163.0	0.0		111.0	7.0	NM_020356	E1P5Z8|Q5QPD6|Q96K09|Q9BYL5	Missense_Mutation	SNP	ENST00000360314.3	hg19	CCDS33492.1	.	.	.	.	.	.	.	.	.	.	T	29.8	5.038168	0.93630	.	.	ENSG00000087589	ENST00000360314;ENST00000371336	T;T	0.28069	1.63;1.63	6.17	6.17	0.99709	Serine rich protein interaction (1);	0.328819	0.32548	N	0.005950	T	0.47469	0.1447	M	0.63428	1.95	0.47245	D	0.999361	D;P;P	0.58268	0.982;0.925;0.939	P;P;P	0.53954	0.738;0.54;0.67	T	0.46843	-0.9162	10	0.87932	D	0	-25.8264	16.8222	0.85835	0.0:0.0:0.0:1.0	.	526;580;580	B4DII4;Q9NQ75-2;Q9NQ75	.;.;CASS4_HUMAN	A	580	ENSP00000353462:V580A;ENSP00000360387:V580A	ENSP00000353462:V580A	V	+	2	0	CASS4	54461378	1.000000	0.71417	0.950000	0.38849	0.921000	0.55340	7.251000	0.78297	2.371000	0.80710	0.533000	0.62120	GTC	.	.		0.463	CASS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079789.2	NM_020356	
BMP7	655	hgsc.bcm.edu	37	20	55758796	55758796	+	Silent	SNP	G	G	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr20:55758796G>T	ENST00000395863.3	-	4	1445	c.940C>A	c.(940-942)Cgg>Agg	p.R314R	BMP7_ENST00000395864.3_Intron|BMP7_ENST00000450594.2_Silent_p.R314R|BMP7_ENST00000460817.1_5'UTR	NM_001719.2	NP_001710.1	P18075	BMP7_HUMAN	bone morphogenetic protein 7	314					axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|branching involved in salivary gland morphogenesis (GO:0060445)|branching morphogenesis of an epithelial tube (GO:0048754)|cartilage development (GO:0051216)|cellular response to hypoxia (GO:0071456)|dendrite development (GO:0016358)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic skeletal joint morphogenesis (GO:0060272)|epithelial cell differentiation (GO:0030855)|epithelial to mesenchymal transition (GO:0001837)|extracellular matrix organization (GO:0030198)|growth (GO:0040007)|mesenchymal cell differentiation (GO:0048762)|mesenchyme development (GO:0060485)|mesoderm formation (GO:0001707)|mesonephros development (GO:0001823)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|metanephric mesenchyme morphogenesis (GO:0072133)|metanephros development (GO:0001656)|monocyte aggregation (GO:0070487)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell death (GO:0060548)|negative regulation of glomerular mesangial cell proliferation (GO:0072125)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mesenchymal cell apoptotic process involved in nephron morphogenesis (GO:0072040)|negative regulation of mitosis (GO:0045839)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of phosphorylation (GO:0042326)|negative regulation of prostatic bud formation (GO:0060686)|negative regulation of striated muscle cell apoptotic process (GO:0010664)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neuron projection morphogenesis (GO:0048812)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone mineralization (GO:0030501)|positive regulation of dendrite development (GO:1900006)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of hyaluranon cable assembly (GO:1900106)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to nucleus (GO:0034504)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|regulation of removal of superoxide radicals (GO:2000121)|response to estradiol (GO:0032355)|response to peptide hormone (GO:0043434)|response to vitamin D (GO:0033280)|skeletal system development (GO:0001501)|SMAD protein signal transduction (GO:0060395)|steroid hormone mediated signaling pathway (GO:0043401)|ureteric bud development (GO:0001657)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	heparin binding (GO:0008201)			endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20	all_lung(29;0.0133)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)			TTGGCCATCCGCAGGGCTTCC	0.647																																					p.R314R		Atlas-SNP	.											.	BMP7	60	.	0			c.C940A						.						79.0	70.0	73.0					20																	55758796		2203	4300	6503	SO:0001819	synonymous_variant	655	exon4			CCATCCGCAGGGC		CCDS13455.1	20q13	2014-01-30	2008-05-22		ENSG00000101144	ENSG00000101144		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1074	protein-coding gene	gene with protein product	"""osteogenic protein 1"""	112267				1427904	Standard	NM_001719		Approved	OP-1	uc010gip.1	P18075	OTTHUMG00000032812	ENST00000395863.3:c.940C>A	chr20.hg19:g.55758796G>T		70.0	0.0		48.0	4.0	NM_001719	Q9H512|Q9NTQ7	Silent	SNP	ENST00000395863.3	hg19	CCDS13455.1	.	.	.	.	.	.	.	.	.	.	G	9.629	1.135813	0.21123	.	.	ENSG00000101144	ENST00000433911	.	.	.	5.48	-1.19	0.09585	.	.	.	.	.	T	0.69287	0.3094	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.70382	-0.4887	4	.	.	.	.	17.5893	0.87991	0.0:0.0:0.3681:0.6319	.	.	.	.	E	235	.	.	A	-	2	0	BMP7	55192203	1.000000	0.71417	0.997000	0.53966	0.920000	0.55202	1.486000	0.35530	-0.116000	0.11893	-0.196000	0.12772	GCG	.	.		0.647	BMP7-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079831.2		
LAMA5	3911	hgsc.bcm.edu	37	20	60891820	60891820	+	Missense_Mutation	SNP	G	G	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr20:60891820G>A	ENST00000252999.3	-	57	7729	c.7663C>T	c.(7663-7665)Cgg>Tgg	p.R2555W		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	2555	Domain II and I.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			AGGCCCTGCCGCACCACCGTC	0.692																																					p.R2555W		Atlas-SNP	.											.	LAMA5	268	.	0			c.C7663T						.						20.0	16.0	17.0					20																	60891820		2174	4272	6446	SO:0001583	missense	3911	exon57			CCTGCCGCACCAC	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.7663C>T	chr20.hg19:g.60891820G>A	ENSP00000252999:p.Arg2555Trp	69.0	0.0		60.0	5.0	NM_005560	Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	ENST00000252999.3	hg19	CCDS33502.1	.	.	.	.	.	.	.	.	.	.	g	11.89	1.773911	0.31411	.	.	ENSG00000130702	ENST00000252999	T	0.19532	2.14	3.79	2.8	0.32819	.	0.931382	0.09110	U	0.847230	T	0.10208	0.0250	N	0.14661	0.345	0.24721	N	0.993147	P	0.48589	0.912	B	0.30782	0.12	T	0.14476	-1.0471	10	0.72032	D	0.01	.	8.876	0.35345	0.0:0.2302:0.7698:0.0	.	2555	O15230	LAMA5_HUMAN	W	2555	ENSP00000252999:R2555W	ENSP00000252999:R2555W	R	-	1	2	LAMA5	60325215	0.258000	0.24033	0.950000	0.38849	0.259000	0.26198	1.406000	0.34646	0.755000	0.32990	0.306000	0.20318	CGG	.	.		0.692	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560	
YTHDF1	54915	hgsc.bcm.edu	37	20	61835053	61835053	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr20:61835053T>C	ENST00000370339.3	-	4	580	c.239A>G	c.(238-240)gAc>gGc	p.D80G	YTHDF1_ENST00000370334.4_Intron|YTHDF1_ENST00000370333.4_Missense_Mutation_p.D30G	NM_017798.3	NP_060268.2	Q9BYJ9	YTHD1_HUMAN	YTH domain family, member 1	80							N6-methyladenosine-containing RNA binding (GO:1990247)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						AATCGGAGGGTCCCCTGCAGT	0.557																																					p.D80G		Atlas-SNP	.											.	YTHDF1	66	.	0			c.A239G						.						103.0	109.0	107.0					20																	61835053		2203	4300	6503	SO:0001583	missense	54915	exon4			GGAGGGTCCCCTG	AK000398	CCDS13511.1	20q13.33	2010-03-15	2004-11-16	2004-06-04	ENSG00000149658	ENSG00000149658			15867	protein-coding gene	gene with protein product			"""YTH domain family 1"""	C20orf21			Standard	NM_017798		Approved	FLJ20391	uc002yeh.3	Q9BYJ9	OTTHUMG00000032955	ENST00000370339.3:c.239A>G	chr20.hg19:g.61835053T>C	ENSP00000359364:p.Asp80Gly	170.0	0.0		115.0	5.0	NM_017798	Q8N3G5|Q8TBT1|Q96AN4|Q96S57|Q9BTI7|Q9NX79	Missense_Mutation	SNP	ENST00000370339.3	hg19	CCDS13511.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.048398	0.75846	.	.	ENSG00000149658	ENST00000370339;ENST00000370333	T;T	0.68765	-0.35;-0.35	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.79661	0.4484	M	0.72118	2.19	0.80722	D	1	D	0.63880	0.993	D	0.64506	0.926	T	0.82285	-0.0533	10	0.72032	D	0.01	-35.703	15.1531	0.72717	0.0:0.0:0.0:1.0	.	80	Q9BYJ9	YTHD1_HUMAN	G	80;30	ENSP00000359364:D80G;ENSP00000359358:D30G	ENSP00000359358:D30G	D	-	2	0	YTHDF1	61305498	1.000000	0.71417	1.000000	0.80357	0.836000	0.47400	7.927000	0.87577	1.983000	0.57843	0.459000	0.35465	GAC	.	.		0.557	YTHDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080110.2	NM_017798	
CHRNA4	1137	hgsc.bcm.edu	37	20	61981085	61981085	+	Missense_Mutation	SNP	G	G	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr20:61981085G>T	ENST00000370263.4	-	5	1899	c.1678C>A	c.(1678-1680)Ctg>Atg	p.L560M	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	560					action potential (GO:0001508)|B cell activation (GO:0042113)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|cognition (GO:0050890)|DNA repair (GO:0006281)|exploration behavior (GO:0035640)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|neurological system process (GO:0050877)|regulation of dopamine secretion (GO:0014059)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of membrane potential (GO:0042391)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|response to oxidative stress (GO:0006979)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Nicotine(DB00184)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)|Varenicline(DB01273)	GCCGGCGACAGGGGCAGGTGC	0.662																																					p.L560M		Atlas-SNP	.											.	CHRNA4	98	.	0			c.C1678A						.						33.0	41.0	38.0					20																	61981085		2201	4296	6497	SO:0001583	missense	1137	exon5			GCGACAGGGGCAG		CCDS13517.1	20q13.33	2013-09-20	2012-02-07		ENSG00000101204	ENSG00000101204		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1958	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 4 (neuronal)"""	118504	"""cholinergic receptor, nicotinic, alpha polypeptide 4"""	EBN, EBN1		1505988	Standard	NM_000744		Approved	BFNC	uc002yes.3	P43681	OTTHUMG00000033080	ENST00000370263.4:c.1678C>A	chr20.hg19:g.61981085G>T	ENSP00000359285:p.Leu560Met	61.0	0.0		87.0	4.0	NM_000744	Q4JGR7|Q4VAQ5|Q4VAQ6	Missense_Mutation	SNP	ENST00000370263.4	hg19	CCDS13517.1	.	.	.	.	.	.	.	.	.	.	G	8.285	0.816399	0.16607	.	.	ENSG00000101204	ENST00000370258;ENST00000370263;ENST00000539366	D	0.86297	-2.1	4.72	2.58	0.30949	Neurotransmitter-gated ion-channel transmembrane domain (2);	26.139000	0.00166	N	0.000000	D	0.84101	0.5398	L	0.39633	1.23	0.35505	D	0.800125	B;B	0.27068	0.167;0.136	B;B	0.30646	0.118;0.081	T	0.71892	-0.4455	10	0.48119	T	0.1	.	7.2309	0.26043	0.1025:0.0:0.6363:0.2612	.	489;560	Q4VAQ5;P43681	.;ACHA4_HUMAN	M	466;560;489	ENSP00000359285:L560M	ENSP00000359280:L466M	L	-	1	2	CHRNA4	61451529	0.991000	0.36638	0.482000	0.27366	0.364000	0.29643	0.830000	0.27462	0.988000	0.38734	0.491000	0.48974	CTG	.	.		0.662	CHRNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080508.3		
NRIP1	8204	hgsc.bcm.edu	37	21	16337049	16337049	+	Silent	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr21:16337049T>C	ENST00000400202.1	-	3	4177	c.3465A>G	c.(3463-3465)aaA>aaG	p.K1155K	NRIP1_ENST00000400199.1_Silent_p.K1155K|NRIP1_ENST00000318948.4_Silent_p.K1155K|AF127577.10_ENST00000446301.1_RNA			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	1155	Interaction with ZNF366.|Repression domain 4.				androgen receptor signaling pathway (GO:0030521)|lipid storage (GO:0019915)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ovarian follicle rupture (GO:0001543)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|glucocorticoid receptor binding (GO:0035259)|nuclear hormone receptor binding (GO:0035257)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		ATTCTGATTCTTTCTTTATCG	0.368																																					p.K1155K		Atlas-SNP	.											.	NRIP1	103	.	0			c.A3465G						.						94.0	97.0	96.0					21																	16337049		2203	4299	6502	SO:0001819	synonymous_variant	8204	exon4			TGATTCTTTCTTT	X84373	CCDS13568.1	21q11.2	2008-07-31			ENSG00000180530	ENSG00000180530			8001	protein-coding gene	gene with protein product	"""receptor interacting protein 140"", ""nuclear factor RIP140"""	602490				7641693, 9521594	Standard	NM_003489		Approved	RIP140	uc002yjx.2	P48552	OTTHUMG00000074323	ENST00000400202.1:c.3465A>G	chr21.hg19:g.16337049T>C		110.0	0.0		85.0	4.0	NM_003489	Q8IWE8	Silent	SNP	ENST00000400202.1	hg19	CCDS13568.1																																																																																			.	.		0.368	NRIP1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157926.1	NM_003489	
TIAM1	7074	hgsc.bcm.edu	37	21	32639207	32639207	+	Missense_Mutation	SNP	G	G	T	rs371962651		TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr21:32639207G>T	ENST00000286827.3	-	5	553	c.82C>A	c.(82-84)Cgc>Agc	p.R28S	TIAM1_ENST00000469412.1_Intron|TIAM1_ENST00000541036.1_Missense_Mutation_p.R28S	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	28					apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						CGCAGGGAGCGGGAAGTGTGC	0.577																																					p.R28S		Atlas-SNP	.											.	TIAM1	522	.	0			c.C82A						.						46.0	48.0	47.0					21																	32639207		2203	4300	6503	SO:0001583	missense	7074	exon5			GGGAGCGGGAAGT		CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.82C>A	chr21.hg19:g.32639207G>T	ENSP00000286827:p.Arg28Ser	91.0	0.0		70.0	4.0	NM_003253	B7ZLR6|F5GZ53|Q17RT7	Missense_Mutation	SNP	ENST00000286827.3	hg19	CCDS13609.1	.	.	.	.	.	.	.	.	.	.	G	16.55	3.154923	0.57259	.	.	ENSG00000156299	ENST00000286827;ENST00000541036;ENST00000455508	T;T	0.55760	0.57;0.5	5.12	4.22	0.49857	.	0.058320	0.64402	D	0.000003	T	0.54334	0.1852	L	0.48642	1.525	0.51233	D	0.999918	P;P;P	0.48016	0.904;0.845;0.845	P;B;B	0.47744	0.556;0.354;0.354	T	0.59606	-0.7423	10	0.87932	D	0	.	14.7325	0.69393	0.0:0.0:0.854:0.146	.	28;28;28	F5GZ53;B7ZLR6;Q13009	.;.;TIAM1_HUMAN	S	28	ENSP00000286827:R28S;ENSP00000441570:R28S	ENSP00000286827:R28S	R	-	1	0	TIAM1	31561078	0.991000	0.36638	0.824000	0.32777	0.926000	0.56050	3.981000	0.56902	1.112000	0.41740	0.411000	0.27672	CGC	.	.		0.577	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	NM_003253	
SYNJ1	8867	hgsc.bcm.edu	37	21	34056410	34056410	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr21:34056410G>A	ENST00000322229.7	-	9	1137	c.1138C>T	c.(1138-1140)Cga>Tga	p.R380*	SYNJ1_ENST00000382491.3_Nonsense_Mutation_p.R380*|SYNJ1_ENST00000382499.2_Nonsense_Mutation_p.R419*|SYNJ1_ENST00000433931.2_Nonsense_Mutation_p.R419*|SYNJ1_ENST00000357345.3_Nonsense_Mutation_p.R380*			O43426	SYNJ1_HUMAN	synaptojanin 1	380	SAC. {ECO:0000255|PROSITE- ProRule:PRU00183}.				cell death (GO:0008219)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of synaptic vesicle uncoating (GO:1903390)|regulation of synaptic vesicle membrane organization (GO:1901632)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)	cytosol (GO:0005829)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						CAGTTTGTTCGAACTGTACCA	0.318																																					p.R419X		Atlas-SNP	.											.	SYNJ1	253	.	0			c.C1255T						.						134.0	118.0	123.0					21																	34056410		2203	4300	6503	SO:0001587	stop_gained	8867	exon10			TTGTTCGAACTGT	AF009040	CCDS33539.1, CCDS33540.1, CCDS33539.2, CCDS33540.2, CCDS54483.1	21q22.2	2008-06-23			ENSG00000159082	ENSG00000159082			11503	protein-coding gene	gene with protein product		604297				9428629, 10773674	Standard	NM_203446		Approved	INPP5G	uc002yqh.2	O43426	OTTHUMG00000064926	ENST00000322229.7:c.1138C>T	chr21.hg19:g.34056410G>A	ENSP00000322234:p.Arg380*	158.0	0.0		95.0	4.0	NM_203446	O43425|O94984|Q4KMR1	Nonsense_Mutation	SNP	ENST00000322229.7	hg19	CCDS54484.1	.	.	.	.	.	.	.	.	.	.	G	36	5.951296	0.97139	.	.	ENSG00000159082	ENST00000382491;ENST00000357345;ENST00000382499;ENST00000433931;ENST00000322229;ENST00000429236	.	.	.	5.78	2.73	0.32206	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.9927	0.64376	0.0:0.0:0.3348:0.6652	.	.	.	.	X	380;380;419;419;380;380	.	ENSP00000322234:R380X	R	-	1	2	SYNJ1	32978281	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	3.967000	0.56802	0.720000	0.32209	0.585000	0.79938	CGA	.	.		0.318	SYNJ1-201	KNOWN	basic|CCDS	protein_coding	protein_coding			
ITSN1	6453	hgsc.bcm.edu	37	21	35140133	35140133	+	Splice_Site	SNP	G	G	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr21:35140133G>T	ENST00000381318.3	+	11	1330		c.e11+1		ITSN1_ENST00000381285.4_Splice_Site|ITSN1_ENST00000399338.4_Splice_Site|ITSN1_ENST00000381291.4_Splice_Site|ITSN1_ENST00000399353.1_Splice_Site|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399349.1_Splice_Site|ITSN1_ENST00000488166.1_Splice_Site|ITSN1_ENST00000437442.2_Splice_Site|ITSN1_ENST00000399367.3_Splice_Site|ITSN1_ENST00000399355.2_Splice_Site|ITSN1_ENST00000399326.3_Splice_Site|ITSN1_ENST00000379960.5_Splice_Site|ITSN1_ENST00000399352.1_Splice_Site	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)						apoptotic signaling pathway (GO:0097190)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|kinase activator activity (GO:0019209)|proline-rich region binding (GO:0070064)|protein complex scaffold (GO:0032947)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						AAATTACCTGGTAAGGCAGCC	0.323																																					.		Atlas-SNP	.											.	ITSN1	166	.	0			c.1042+1G>T						.						52.0	50.0	51.0					21																	35140133		2203	4300	6503	SO:0001630	splice_region_variant	6453	exon11			TACCTGGTAAGGC	AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"""	6183	protein-coding gene	gene with protein product	"""SH3 domain protein-1A"", ""human intersectin-SH3 domain-containing protein SH3P17"", ""Src homology 3 domain-containing protein"", ""intersectin 1 short form variant, 11"", ""intersectin 1 short form variant 3"", ""intersectin short variant 12"""	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.1042+1G>T	chr21.hg19:g.35140133G>T		153.0	0.0		81.0	4.0	NM_003024	A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Splice_Site	SNP	ENST00000381318.3	hg19	CCDS33545.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.268166	0.80469	.	.	ENSG00000205726	ENST00000399353;ENST00000381318;ENST00000381291;ENST00000381285;ENST00000381288;ENST00000381289;ENST00000399367;ENST00000399352;ENST00000399355;ENST00000399349;ENST00000381283;ENST00000399338;ENST00000437442;ENST00000399326;ENST00000379960	.	.	.	5.83	5.83	0.93111	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.119	0.97953	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ITSN1	34062003	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	7.479000	0.81095	2.763000	0.94921	0.555000	0.69702	.	.	.		0.323	ITSN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000140070.4	NM_003024	Intron
ITSN1	6453	hgsc.bcm.edu	37	21	35255856	35255856	+	Silent	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr21:35255856T>C	ENST00000381318.3	+	36	4845	c.4557T>C	c.(4555-4557)ccT>ccC	p.P1519P	ITSN1_ENST00000381285.4_Silent_p.P1519P|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000437442.2_Silent_p.P1458P|ITSN1_ENST00000399367.3_Silent_p.P1514P|ITSN1_ENST00000399326.3_3'UTR	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	1519	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|kinase activator activity (GO:0019209)|proline-rich region binding (GO:0070064)|protein complex scaffold (GO:0032947)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						CTTTCCAGCCTATTTTCCTAA	0.498																																					p.P1519P		Atlas-SNP	.											.	ITSN1	166	.	0			c.T4557C						.						134.0	142.0	139.0					21																	35255856		2203	4300	6503	SO:0001819	synonymous_variant	6453	exon36			CCAGCCTATTTTC	AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"""	6183	protein-coding gene	gene with protein product	"""SH3 domain protein-1A"", ""human intersectin-SH3 domain-containing protein SH3P17"", ""Src homology 3 domain-containing protein"", ""intersectin 1 short form variant, 11"", ""intersectin 1 short form variant 3"", ""intersectin short variant 12"""	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.4557T>C	chr21.hg19:g.35255856T>C		161.0	0.0		100.0	4.0	NM_003024	A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Silent	SNP	ENST00000381318.3	hg19	CCDS33545.1	.	.	.	.	.	.	.	.	.	.	T	10.65	1.411007	0.25465	.	.	ENSG00000205726	ENST00000381284	.	.	.	5.75	-0.817	0.10836	.	.	.	.	.	T	0.43743	0.1261	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.23226	-1.0194	4	.	.	.	.	4.0636	0.09849	0.1366:0.5421:0.1384:0.183	.	.	.	.	H	199	.	.	Y	+	1	0	ITSN1	34177726	0.006000	0.16342	0.991000	0.47740	0.860000	0.49131	-1.212000	0.02994	-0.375000	0.07955	0.528000	0.53228	TAT	.	.		0.498	ITSN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000140070.4	NM_003024	
PWP2	5822	hgsc.bcm.edu	37	21	45548277	45548277	+	Splice_Site	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr21:45548277A>G	ENST00000291576.7	+	19	2636	c.2509A>G	c.(2509-2511)Aga>Gga	p.R837G	PWP2_ENST00000494310.1_3'UTR	NM_005049.2	NP_005040.2	Q15269	PWP2_HUMAN	PWP2 periodic tryptophan protein homolog (yeast)	837					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	21				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)		GCTGAAGTCCAGGTAGAGGGT	0.522																																					p.R837G		Atlas-SNP	.											.	PWP2	64	.	0			c.A2509G						.						61.0	60.0	61.0					21																	45548277		2203	4300	6503	SO:0001630	splice_region_variant	5822	exon19			AAGTCCAGGTAGA		CCDS33579.1	21q22.3	2013-01-10	2001-11-28	2006-11-24	ENSG00000241945	ENSG00000241945		"""WD repeat domain containing"""	9711	protein-coding gene	gene with protein product		601475	"""PWP2 (periodic tryptophan protein, yeast) homolog"""	PWP2H		8893822	Standard	NM_005049		Approved	EHOC-17, UTP1	uc002zeb.3	Q15269	OTTHUMG00000086893	ENST00000291576.7:c.2510+1A>G	chr21.hg19:g.45548277A>G		120.0	0.0		89.0	4.0	NM_005049	B2RAG8|Q96A77	Missense_Mutation	SNP	ENST00000291576.7	hg19	CCDS33579.1	.	.	.	.	.	.	.	.	.	.	A	13.68	2.309538	0.40895	.	.	ENSG00000241945;ENSG00000248354	ENST00000291576;ENST00000433711	T	0.59502	0.26	4.05	4.05	0.47172	.	0.000000	0.85682	D	0.000000	T	0.61677	0.2366	M	0.76170	2.325	0.53688	D	0.999976	B	0.34103	0.437	B	0.41666	0.363	T	0.67110	-0.5753	10	0.87932	D	0	-8.7499	9.9907	0.41870	0.8298:0.1701:0.0:0.0	.	837	Q15269	PWP2_HUMAN	G	837;19	ENSP00000291576:R837G	ENSP00000415634:R19G	R	+	1	2	AP001055.7;PWP2	44372705	1.000000	0.71417	0.994000	0.49952	0.700000	0.40528	2.861000	0.48380	1.784000	0.52394	0.460000	0.39030	AGA	.	.		0.522	PWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195736.3	NM_005049	Missense_Mutation
PFKL	5211	hgsc.bcm.edu	37	21	45744485	45744485	+	Missense_Mutation	SNP	G	G	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr21:45744485G>T	ENST00000349048.4	+	17	1817	c.1762G>T	c.(1762-1764)Ggg>Tgg	p.G588W	PFKL_ENST00000403390.1_Missense_Mutation_p.G635W	NM_002626.4	NP_002617.3	P17858	PFKAL_HUMAN	phosphofructokinase, liver	588	C-terminal regulatory PFK domain 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose 6-phosphate metabolic process (GO:0006002)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|negative regulation of insulin secretion (GO:0046676)|protein homotetramerization (GO:0051289)|protein oligomerization (GO:0051259)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	6-phosphofructokinase complex (GO:0005945)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|fructose binding (GO:0070061)|fructose-6-phosphate binding (GO:0070095)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23				Colorectal(79;0.0811)		CATTGCTGTGGGGGCCGACGC	0.632																																					p.G588W		Atlas-SNP	.											.	PFKL	65	.	0			c.G1762T						.						81.0	73.0	76.0					21																	45744485		2202	4300	6502	SO:0001583	missense	5211	exon17			GCTGTGGGGGCCG		CCDS33582.1	21q22.3	1992-12-17			ENSG00000141959	ENSG00000141959	2.7.1.11		8876	protein-coding gene	gene with protein product		171860					Standard	NR_024108		Approved		uc002zel.3	P17858	OTTHUMG00000086910	ENST00000349048.4:c.1762G>T	chr21.hg19:g.45744485G>T	ENSP00000269848:p.Gly588Trp	148.0	0.0		95.0	5.0	NM_002626	Q96A64|Q96IH4|Q9BR91	Missense_Mutation	SNP	ENST00000349048.4	hg19	CCDS33582.1	.	.	.	.	.	.	.	.	.	.	G	17.62	3.433650	0.62955	.	.	ENSG00000141959	ENST00000349048;ENST00000534847;ENST00000403390	D;D	0.83837	-1.77;-1.77	4.1	4.1	0.47936	Phosphofructokinase domain (2);	0.000000	0.85682	D	0.000000	D	0.94928	0.8360	H	0.99169	4.455	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97171	0.9844	10	0.87932	D	0	-38.7407	15.126	0.72483	0.0:0.0:1.0:0.0	.	588;635	P17858;P17858-2	K6PL_HUMAN;.	W	588;381;635	ENSP00000269848:G588W;ENSP00000384038:G635W	ENSP00000269848:G588W	G	+	1	0	PFKL	44568913	1.000000	0.71417	0.813000	0.32504	0.238000	0.25445	9.323000	0.96364	1.852000	0.53769	0.467000	0.42956	GGG	.	.		0.632	PFKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195805.1		
MCM3AP	8888	hgsc.bcm.edu	37	21	47704014	47704014	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr21:47704014T>C	ENST00000397708.1	-	2	1441	c.1187A>G	c.(1186-1188)gAg>gGg	p.E396G	YBEY_ENST00000397701.4_5'Flank|MCM3AP_ENST00000291688.1_Missense_Mutation_p.E396G|YBEY_ENST00000397692.1_5'Flank|YBEY_ENST00000339195.6_5'Flank|YBEY_ENST00000329319.3_5'Flank|YBEY_ENST00000397691.1_5'Flank|YBEY_ENST00000397694.1_5'Flank			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	396					DNA replication (GO:0006260)|immune system process (GO:0002376)|mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transferase activity, transferring acyl groups (GO:0016746)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					AGTTTCTTCCTCTTTATTCAC	0.463																																					p.E396G		Atlas-SNP	.											.	MCM3AP	146	.	0			c.A1187G						.						86.0	90.0	88.0					21																	47704014		2203	4300	6503	SO:0001583	missense	8888	exon1			TCTTCCTCTTTAT	AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"""germinal-centre associated nuclear protein"""	603294	"""minichromosome maintenance deficient (S. cerevisiae) 3-associated protein"", ""MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"""			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.1187A>G	chr21.hg19:g.47704014T>C	ENSP00000380820:p.Glu396Gly	165.0	0.0		91.0	4.0	NM_003906	C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Missense_Mutation	SNP	ENST00000397708.1	hg19	CCDS13734.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.976562	0.74360	.	.	ENSG00000160294	ENST00000397708;ENST00000291688	T;T	0.03889	3.77;3.77	5.33	5.33	0.75918	.	0.328893	0.31601	N	0.007368	T	0.08670	0.0215	L	0.32530	0.975	0.36077	D	0.842545	D	0.57257	0.979	P	0.52554	0.702	T	0.23332	-1.0191	10	0.52906	T	0.07	-28.6181	12.8246	0.57712	0.0:0.0:0.0:1.0	.	396	O60318	MCM3A_HUMAN	G	396	ENSP00000380820:E396G;ENSP00000291688:E396G	ENSP00000291688:E396G	E	-	2	0	MCM3AP	46528442	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	4.960000	0.63673	2.015000	0.59207	0.460000	0.39030	GAG	.	.		0.463	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207254.1	NM_003906	
MRPL40	64976	hgsc.bcm.edu	37	22	19423190	19423190	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr22:19423190A>G	ENST00000333130.3	+	4	979	c.326A>G	c.(325-327)gAg>gGg	p.E109G	MRPL40_ENST00000443660.1_3'UTR|HIRA_ENST00000541063.1_Intron|HIRA_ENST00000546308.1_Intron	NM_003776.2	NP_003767.2	Q9NQ50	RM40_HUMAN	mitochondrial ribosomal protein L40	109					anatomical structure morphogenesis (GO:0009653)	mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|upper_aerodigestive_tract(1)	2	Colorectal(54;0.0993)					CTCACCTTTGAGGAGACTGAG	0.512																																					p.E109G		Atlas-SNP	.											.	MRPL40	13	.	0			c.A326G						.						214.0	222.0	220.0					22																	19423190		2203	4300	6503	SO:0001583	missense	64976	exon4			CCTTTGAGGAGAC	AB051624	CCDS13760.1	22q11.2	2012-09-13	2002-11-13		ENSG00000185608	ENSG00000185608		"""Mitochondrial ribosomal proteins / large subunits"""	14491	protein-coding gene	gene with protein product		605089	"""nuclear localization signal deleted in velocardiofacial syndrome"""	NLVCF		9790763, 11543634	Standard	NM_003776		Approved	MRP-L22	uc002zpg.3	Q9NQ50	OTTHUMG00000150136	ENST00000333130.3:c.326A>G	chr22.hg19:g.19423190A>G	ENSP00000333401:p.Glu109Gly	123.0	0.0		99.0	5.0	NM_003776	B3KVZ7|O95134	Missense_Mutation	SNP	ENST00000333130.3	hg19	CCDS13760.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.297018	0.81025	.	.	ENSG00000185608	ENST00000333130	T	0.58506	0.33	5.33	4.3	0.51218	.	0.103877	0.64402	D	0.000005	T	0.77718	0.4172	M	0.88842	2.985	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.80788	-0.1226	10	0.87932	D	0	-28.0143	11.1553	0.48484	0.9283:0.0:0.0717:0.0	.	109	Q9NQ50	RM40_HUMAN	G	109	ENSP00000333401:E109G	ENSP00000333401:E109G	E	+	2	0	MRPL40	17803190	1.000000	0.71417	0.729000	0.30791	0.963000	0.63663	6.389000	0.73199	1.044000	0.40200	0.460000	0.39030	GAG	.	.		0.512	MRPL40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316491.2	NM_003776	
PI4KA	5297	hgsc.bcm.edu	37	22	21159287	21159287	+	Missense_Mutation	SNP	C	C	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr22:21159287C>A	ENST00000572273.1	-	11	1391	c.1161G>T	c.(1159-1161)atG>atT	p.M387I	PI4KA_ENST00000255882.6_Missense_Mutation_p.M445I			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	387					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi-associated vesicle membrane (GO:0030660)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			CAGCCCACACCATGAGGTCCA	0.572																																					p.M445I	GBM(136;1332 1831 3115 23601 50806)	Atlas-SNP	.											.	PI4KA	313	.	0			c.G1335T						.						140.0	124.0	130.0					22																	21159287		2203	4300	6503	SO:0001583	missense	5297	exon11			CCACACCATGAGG	L36151	CCDS33603.1, CCDS33603.2	22q11.21	2011-05-25	2007-08-14	2007-08-02	ENSG00000241973	ENSG00000241973			8983	protein-coding gene	gene with protein product		600286		PIK4CA		7961848, 8662589	Standard	NM_002650		Approved	PI4K-ALPHA, pi4K230	uc002zsz.5	P42356	OTTHUMG00000167440	ENST00000572273.1:c.1161G>T	chr22.hg19:g.21159287C>A	ENSP00000458238:p.Met387Ile	135.0	0.0		94.0	4.0	NM_058004	Q7Z625|Q9UPG2	Missense_Mutation	SNP	ENST00000572273.1	hg19		.	.	.	.	.	.	.	.	.	.	C	17.23	3.337749	0.60963	.	.	ENSG00000241973	ENST00000255882	.	.	.	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.61825	0.2378	L	0.60455	1.87	0.80722	D	1	B;B	0.27316	0.175;0.039	B;B	0.25987	0.065;0.011	T	0.55866	-0.8073	9	0.25106	T	0.35	-39.3336	20.3214	0.98679	0.0:1.0:0.0:0.0	.	445;387	D3DX33;P42356	.;PI4KA_HUMAN	I	387	.	ENSP00000255882:M387I	M	-	3	0	PI4KA	19489287	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.813000	0.86123	2.804000	0.96469	0.655000	0.94253	ATG	.	.		0.572	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_058004	
IGLL1	3543	hgsc.bcm.edu	37	22	23922198	23922198	+	Silent	SNP	C	C	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr22:23922198C>T	ENST00000330377.2	-	1	297	c.180G>A	c.(178-180)cgG>cgA	p.R60R	IGLL1_ENST00000249053.3_Silent_p.R60R|KB-208E9.1_ENST00000608615.1_lincRNA	NM_020070.3	NP_064455.1	P15814	IGLL1_HUMAN	immunoglobulin lambda-like polypeptide 1	60					immune response (GO:0006955)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				kidney(1)|large_intestine(1)|lung(5)|skin(4)|stomach(1)	12						TCAGGCTGGACCGGCTGCTTC	0.677																																					p.R60R		Atlas-SNP	.											.	IGLL1	27	.	0			c.G180A						.						6.0	7.0	7.0					22																	23922198		1893	3906	5799	SO:0001819	synonymous_variant	3543	exon1			GCTGGACCGGCTG	X52204	CCDS13809.1, CCDS13810.1	22q11.23	2014-09-17			ENSG00000128322	ENSG00000128322		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	5870	protein-coding gene	gene with protein product		146770		IGLL		3139558, 2511029	Standard	NM_020070		Approved	IGVPB, IGL5, 14.1, CD179B	uc002zxd.3	P15814	OTTHUMG00000150673	ENST00000330377.2:c.180G>A	chr22.hg19:g.23922198C>T		83.0	0.0		60.0	4.0	NM_020070	Q0P681	Silent	SNP	ENST00000330377.2	hg19	CCDS13809.1																																																																																			.	.		0.677	IGLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319569.1	NM_020070	
CABIN1	23523	hgsc.bcm.edu	37	22	24455827	24455827	+	Splice_Site	SNP	G	G	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr22:24455827G>A	ENST00000398319.2	+	11	1784		c.e11+1		CABIN1_ENST00000405822.2_Splice_Site|CABIN1_ENST00000263119.5_Splice_Site	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1						cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						ATGGAATCTGGTAGGAATCGA	0.438																																					.		Atlas-SNP	.											.	CABIN1	153	.	0			c.1249+1G>A						.						63.0	59.0	61.0					22																	24455827		2203	4300	6503	SO:0001630	splice_region_variant	23523	exon10			AATCTGGTAGGAA	AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.1399+1G>A	chr22.hg19:g.24455827G>A		132.0	0.0		72.0	4.0	NM_001201429	G5E9F3|Q6PHY0|Q9Y460	Splice_Site	SNP	ENST00000398319.2	hg19	CCDS13823.1	.	.	.	.	.	.	.	.	.	.	G	18.94	3.729955	0.69074	.	.	ENSG00000099991	ENST00000263119;ENST00000405822;ENST00000398319	.	.	.	5.3	5.3	0.74995	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.3775	0.90440	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CABIN1	22785827	1.000000	0.71417	1.000000	0.80357	0.722000	0.41435	7.737000	0.84957	2.662000	0.90505	0.558000	0.71614	.	.	.		0.438	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320161.2	NM_012295	Intron
GGT1	2678	hgsc.bcm.edu	37	22	24981864	24981864	+	Intron	SNP	C	C	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr22:24981864C>A	ENST00000248923.4	+	1	59				FAM211B_ENST00000318753.8_Missense_Mutation_p.C313F|FAM211B_ENST00000495297.1_5'Flank	NM_013430.2	NP_038347.2	P19440	GGT1_HUMAN	gamma-glutamyltransferase 1						arachidonic acid metabolic process (GO:0019369)|cellular amino acid metabolic process (GO:0006520)|cysteine biosynthetic process (GO:0019344)|glutamate metabolic process (GO:0006536)|glutathione biosynthetic process (GO:0006750)|glutathione catabolic process (GO:0006751)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|regulation of immune system process (GO:0002682)|regulation of inflammatory response (GO:0050727)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|xenobiotic metabolic process (GO:0006805)|zymogen activation (GO:0031638)	anchored component of external side of plasma membrane (GO:0031362)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	TCACCTGGCACAGCAGGCCTG	0.647																																					p.C313F		Atlas-SNP	.											.	.	.	.	0			c.G938T						.						7.0	10.0	9.0					22																	24981864		1940	4104	6044	SO:0001627	intron_variant	388886	exon4			CTGGCACAGCAGG	M24903	CCDS42992.1	22q11.23	2008-08-15			ENSG00000100031	ENSG00000100031	2.3.2.2	"""CD molecules"", ""Gamma-glutamyltransferases"""	4250	protein-coding gene	gene with protein product		612346		GGT		8104871, 18357469	Standard	NM_001288833		Approved	D22S672, D22S732, CD224	uc003aan.1	P19440	OTTHUMG00000030859	ENST00000248923.4:c.-429+2088C>A	chr22.hg19:g.24981864C>A		59.0	0.0		64.0	4.0	NM_207644	Q08247|Q14404|Q8TBS1|Q9UMK1	Missense_Mutation	SNP	ENST00000248923.4	hg19	CCDS42992.1	.	.	.	.	.	.	.	.	.	.	C	11.30	1.598675	0.28445	.	.	ENSG00000178026	ENST00000318753	T	0.54479	0.57	4.36	3.33	0.38152	.	0.000000	0.39985	U	0.001217	T	0.63343	0.2503	L	0.57536	1.79	0.36028	D	0.839187	D	0.64830	0.994	D	0.65443	0.935	T	0.71318	-0.4629	10	0.87932	D	0	-8.0036	8.8651	0.35280	0.0:0.891:0.0:0.109	.	313	Q2VPJ9	LRC6X_HUMAN	F	313	ENSP00000320520:C313F	ENSP00000320520:C313F	C	-	2	0	C22orf36	23311864	0.926000	0.31397	0.761000	0.31378	0.023000	0.10783	1.949000	0.40313	1.128000	0.42052	0.655000	0.94253	TGT	.	.		0.647	GGT1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319110.1	NM_013430	
HORMAD2	150280	hgsc.bcm.edu	37	22	30517682	30517682	+	Missense_Mutation	SNP	G	G	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr22:30517682G>T	ENST00000336726.6	+	9	827	c.472G>T	c.(472-474)Gtt>Ttt	p.V158F	HORMAD2_ENST00000403975.1_Missense_Mutation_p.V158F	NM_152510.2	NP_689723.1	Q8N7B1	HORM2_HUMAN	HORMA domain containing 2	158	HORMA. {ECO:0000255|PROSITE- ProRule:PRU00109}.				meiotic nuclear division (GO:0007126)|meiotic sister chromatid cohesion (GO:0051177)	chromosome (GO:0005694)|nucleus (GO:0005634)				large_intestine(1)|lung(1)	2			Epithelial(10;0.125)			GAAAGCCAGTGTTCTACTGAT	0.348																																					p.V158F		Atlas-SNP	.											.	HORMAD2	12	.	0			c.G472T						.						88.0	77.0	81.0					22																	30517682		1853	4104	5957	SO:0001583	missense	150280	exon9			GCCAGTGTTCTAC	AK098703	CCDS46683.1	22q12.2	2014-01-21			ENSG00000176635	ENSG00000176635			28383	protein-coding gene	gene with protein product						12477932	Standard	NM_152510		Approved	MGC26710, CT46.2	uc003agy.3	Q8N7B1	OTTHUMG00000150881	ENST00000336726.6:c.472G>T	chr22.hg19:g.30517682G>T	ENSP00000336984:p.Val158Phe	301.0	0.0		225.0	60.0	NM_152510	B5MEB2|Q8NHR2	Missense_Mutation	SNP	ENST00000336726.6	hg19	CCDS46683.1	.	.	.	.	.	.	.	.	.	.	G	14.93	2.682200	0.47991	.	.	ENSG00000176635	ENST00000336726;ENST00000403975	T;T	0.32515	1.45;1.45	4.87	-4.25	0.03766	DNA-binding HORMA (4);	0.581117	0.17993	N	0.155158	T	0.25344	0.0616	L	0.54323	1.7	0.21386	N	0.999703	P	0.48016	0.904	P	0.46940	0.532	T	0.22173	-1.0224	10	0.25751	T	0.34	-0.824	6.3177	0.21200	0.6383:0.0:0.2103:0.1515	.	158	Q8N7B1	HORM2_HUMAN	F	158	ENSP00000336984:V158F;ENSP00000385055:V158F	ENSP00000336984:V158F	V	+	1	0	HORMAD2	28847682	0.537000	0.26386	0.609000	0.28983	0.990000	0.78478	0.650000	0.24858	-0.549000	0.06191	0.655000	0.94253	GTT	.	.		0.348	HORMAD2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320416.2	NM_152510	
TBC1D10A	83874	hgsc.bcm.edu	37	22	30688656	30688656	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr22:30688656A>G	ENST00000215790.7	-	9	1399	c.1235T>C	c.(1234-1236)cTg>cCg	p.L412P	TBC1D10A_ENST00000403477.3_Missense_Mutation_p.L419P|TBC1D10A_ENST00000403362.1_Missense_Mutation_p.L324P|RP1-130H16.18_ENST00000447976.1_Intron	NM_031937.2	NP_114143.1	Q9BXI6	TB10A_HUMAN	TBC1 domain family, member 10A	412					activation of cysteine-type endopeptidase activity (GO:0097202)|positive regulation of proteolysis (GO:0045862)|retrograde transport, endosome to Golgi (GO:0042147)	extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rab GTPase activator activity (GO:0005097)			cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						ATCTAGGGGCAGGCGGATGGA	0.647																																					p.L419P		Atlas-SNP	.											.	TBC1D10A	49	.	0			c.T1256C						.						47.0	54.0	52.0					22																	30688656		2203	4300	6503	SO:0001583	missense	83874	exon9			AGGGGCAGGCGGA	AF331038	CCDS13874.1, CCDS56227.1	22q12.2	2013-07-09	2005-03-10	2005-03-10	ENSG00000099992	ENSG00000099992			23609	protein-coding gene	gene with protein product	"""EBP50-PDZ interactor of 64 kD"""	610020	"""TBC1 domain family, member 10"""	TBC1D10		11285285, 20404108	Standard	NM_001204240		Approved	EPI64, AC004997.C22.2	uc010gvu.3	Q9BXI6	OTTHUMG00000150924	ENST00000215790.7:c.1235T>C	chr22.hg19:g.30688656A>G	ENSP00000215790:p.Leu412Pro	94.0	0.0		76.0	4.0	NM_001204240	B3KXT8|O76053|Q20WK7|Q543A2	Missense_Mutation	SNP	ENST00000215790.7	hg19	CCDS13874.1	.	.	.	.	.	.	.	.	.	.	A	15.55	2.866805	0.51588	.	.	ENSG00000099992	ENST00000215790;ENST00000403477;ENST00000403362	T;T;T	0.09723	3.14;3.12;2.95	5.51	5.51	0.81932	.	0.234223	0.35677	N	0.003045	T	0.23886	0.0578	L	0.56769	1.78	0.80722	D	1	D;D;D	0.64830	0.994;0.994;0.994	P;P;P	0.58077	0.832;0.832;0.832	T	0.00735	-1.1588	10	0.30854	T	0.27	.	14.753	0.69543	1.0:0.0:0.0:0.0	.	412;419;412	Q20WK7;B3KXT8;Q9BXI6	.;.;TB10A_HUMAN	P	412;419;324	ENSP00000215790:L412P;ENSP00000384996:L419P;ENSP00000385050:L324P	ENSP00000215790:L412P	L	-	2	0	TBC1D10A	29018656	1.000000	0.71417	0.982000	0.44146	0.149000	0.21700	3.610000	0.54125	2.234000	0.73211	0.459000	0.35465	CTG	.	.		0.647	TBC1D10A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000320550.1	NM_031937	
EIF4ENIF1	56478	hgsc.bcm.edu	37	22	31851919	31851919	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr22:31851919A>G	ENST00000397525.1	-	8	1241	c.1018T>C	c.(1018-1020)Tgg>Cgg	p.W340R	EIF4ENIF1_ENST00000382180.2_Missense_Mutation_p.W19R|RP11-247I13.11_ENST00000464523.1_RNA|EIF4ENIF1_ENST00000397523.1_Missense_Mutation_p.W340R|EIF4ENIF1_ENST00000344710.5_Missense_Mutation_p.W177R|EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.W340R	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	340						cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TTAGAGAACCACCTACTGAAC	0.438											OREG0003517	type=REGULATORY REGION|Gene=LOC486366|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																									p.W340R		Atlas-SNP	.											.	EIF4ENIF1	80	.	0			c.T1018C						.						101.0	93.0	96.0					22																	31851919		2203	4300	6503	SO:0001583	missense	56478	exon8			AGAACCACCTACT	AF240775	CCDS13898.1, CCDS54520.1	22q11.2	2007-01-16			ENSG00000184708	ENSG00000184708			16687	protein-coding gene	gene with protein product		607445				10856257	Standard	NM_019843		Approved	4E-T, FLJ21601, Clast4, 2610509L04Rik	uc003akz.2	Q9NRA8	OTTHUMG00000030793	ENST00000397525.1:c.1018T>C	chr22.hg19:g.31851919A>G	ENSP00000380659:p.Trp340Arg	129.0	0.0	828	104.0	5.0	NM_019843	B1AKL2|B1AKL3|B2RBF1|Q8NCF2|Q9H708	Missense_Mutation	SNP	ENST00000397525.1	hg19	CCDS13898.1	.	.	.	.	.	.	.	.	.	.	A	24.2	4.501269	0.85176	.	.	ENSG00000184708	ENST00000344710;ENST00000397525;ENST00000330125;ENST00000397523;ENST00000382180;ENST00000420671	.	.	.	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.77745	0.4176	M	0.71036	2.16	0.80722	D	1	D;D;D;D	0.89917	1.0;0.998;1.0;0.999	D;D;D;D	0.91635	0.999;0.996;0.999;0.999	T	0.78209	-0.2293	9	0.48119	T	0.1	-7.6038	14.3816	0.66914	1.0:0.0:0.0:0.0	.	177;340;177;340	B1AKL3;Q9NRA8;Q9NRA8-2;B1AKL4	.;4ET_HUMAN;.;.	R	177;340;340;340;19;340	.	ENSP00000328103:W340R	W	-	1	0	EIF4ENIF1	30181919	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.561000	0.90715	2.326000	0.78906	0.533000	0.62120	TGG	.	.		0.438	EIF4ENIF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127926.1	NM_019843	
SFI1	9814	hgsc.bcm.edu	37	22	31927044	31927044	+	Splice_Site	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr22:31927044A>G	ENST00000400288.2	+	4	372	c.267A>G	c.(265-267)agA>agG	p.R89R	SFI1_ENST00000443326.1_Intron|SFI1_ENST00000400289.1_Intron|SFI1_ENST00000443011.1_Intron|SFI1_ENST00000414585.1_Intron|SFI1_ENST00000432498.1_Splice_Site_p.R89R|SFI1_ENST00000540643.1_Intron	NM_001007467.2	NP_001007468.1	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	89					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						CTTCTTTCAGATGCGTGGCCA	0.358																																					p.R89R		Atlas-SNP	.											.	SFI1	78	.	0			c.A267G						.						113.0	103.0	106.0					22																	31927044		1830	4087	5917	SO:0001630	splice_region_variant	9814	exon4			TTTCAGATGCGTG	AB011114	CCDS43004.1, CCDS43005.1, CCDS58803.1, CCDS58804.1	22q12.2	2014-06-13			ENSG00000198089	ENSG00000198089			29064	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 139"""	612765				14504268	Standard	NM_001007467		Approved	KIAA0542, PISD, PPP1R139	uc003ale.4	A8K8P3	OTTHUMG00000030249	ENST00000400288.2:c.267-1A>G	chr22.hg19:g.31927044A>G		139.0	0.0		93.0	4.0	NM_001007467	A1L373|A1L387|A2A2L2|B1AKL9|B5MDB7|B7Z1V6|B7Z8G3|B7ZBE2|B7ZBE3|O60289|Q2TAN8|Q5W1B5|Q86TK0|Q8N4U8|Q8N8C1|Q8WU14	Silent	SNP	ENST00000400288.2	hg19	CCDS43004.1																																																																																			.	.		0.358	SFI1-023	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337180.3	NM_014775	Silent
MYH9	4627	hgsc.bcm.edu	37	22	36684860	36684860	+	Silent	SNP	G	G	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr22:36684860G>A	ENST00000216181.5	-	33	4913	c.4683C>T	c.(4681-4683)aaC>aaT	p.N1561N	MYH9_ENST00000475726.1_5'Flank	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1561					actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TGGCCTGCAGGTTGACCTCCA	0.632			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated																												p.N1561N		Atlas-SNP	.		Dom	yes		22	22q13.1	4627	"""myosin, heavy polypeptide 9, non-muscle"""	yes	L	.	MYH9	225	.	0			c.C4683T						.						127.0	113.0	118.0					22																	36684860		2203	4300	6503	SO:0001819	synonymous_variant	4627	exon33	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA	CTGCAGGTTGACC		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"""Myosins / Myosin superfamily : Class II"""	7579	protein-coding gene	gene with protein product	"""nonmuscle myosin heavy chain II-A"""	160775	"""myosin, heavy polypeptide 9, non-muscle"""	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.4683C>T	chr22.hg19:g.36684860G>A		136.0	0.0		81.0	4.0	NM_002473	A8K6E4|O60805|Q60FE2|Q86T83	Silent	SNP	ENST00000216181.5	hg19	CCDS13927.1																																																																																			.	.		0.632	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473	
SUN2	25777	hgsc.bcm.edu	37	22	39136284	39136284	+	Silent	SNP	G	G	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr22:39136284G>T	ENST00000405510.1	-	13	1702	c.1344C>A	c.(1342-1344)gcC>gcA	p.A448A	RP3-508I15.18_ENST00000420118.1_RNA|SUN2_ENST00000216064.4_Silent_p.A448A|RP3-508I15.14_ENST00000416406.1_RNA|SUN2_ENST00000406622.1_Silent_p.A448A|SUN2_ENST00000405018.1_Silent_p.A469A|SUN2_ENST00000411587.2_Silent_p.A437A|RP3-508I15.21_ENST00000609212.1_RNA|RP3-508I15.19_ENST00000418803.1_RNA	NM_001199580.1	NP_001186509.1	Q9UH99	SUN2_HUMAN	Sad1 and UNC84 domain containing 2	448					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|mitotic spindle organization (GO:0007052)|nuclear envelope organization (GO:0006998)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)	condensed nuclear chromosome (GO:0000794)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|nuclear chromosome, telomeric region (GO:0000784)|nuclear envelope (GO:0005635)|nuclear inner membrane (GO:0005637)|nuclear membrane (GO:0031965)|SUN-KASH complex (GO:0034993)	identical protein binding (GO:0042802)|lamin binding (GO:0005521)|microtubule binding (GO:0008017)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)|stomach(1)	15						CGTCCCGCACGGCCTGGATCT	0.677																																					p.A469A		Atlas-SNP	.											.	SUN2	59	.	0			c.C1407A						.						12.0	14.0	13.0					22																	39136284		2193	4296	6489	SO:0001819	synonymous_variant	25777	exon12			CCGCACGGCCTGG	AF202723	CCDS13978.1, CCDS56231.1	22q12-q13	2010-05-18	2010-05-18	2010-01-27	ENSG00000100242	ENSG00000100242			14210	protein-coding gene	gene with protein product		613569	"""unc-84 homolog B (C. elegans)"""	UNC84B		10508607, 10375507	Standard	NM_015374		Approved		uc010gxq.2	Q9UH99	OTTHUMG00000151031	ENST00000405510.1:c.1344C>A	chr22.hg19:g.39136284G>T		140.0	0.0		87.0	4.0	NM_001199579	B0QY62|O75156|Q2NKN8|Q2T9F7|Q504T5|Q6B4H1|Q7Z3E3	Silent	SNP	ENST00000405510.1	hg19	CCDS13978.1																																																																																			.	.		0.677	SUN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321057.1	XM_039332	
CBX6	23466	hgsc.bcm.edu	37	22	39268185	39268185	+	Missense_Mutation	SNP	G	G	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr22:39268185G>T	ENST00000407418.3	-	1	134	c.11C>A	c.(10-12)tCt>tAt	p.S4Y	CBX6_ENST00000216083.6_Missense_Mutation_p.S4Y			O95503	CBX6_HUMAN	chromobox homolog 6	4					chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	heterochromatin (GO:0000792)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)	single-stranded RNA binding (GO:0003727)			large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6	Melanoma(58;0.04)					GCCCACTGCAGACAGCTCCAT	0.736																																					p.S4Y		Atlas-SNP	.											.	CBX6	26	.	0			c.C11A						.						20.0	19.0	19.0					22																	39268185		2193	4275	6468	SO:0001583	missense	23466	exon1			ACTGCAGACAGCT		CCDS13980.1	22q13.1	2013-04-23			ENSG00000183741	ENSG00000183741			1556	protein-coding gene	gene with protein product							Standard	NM_014292		Approved		uc003awl.3	O95503	OTTHUMG00000150456	ENST00000407418.3:c.11C>A	chr22.hg19:g.39268185G>T	ENSP00000384490:p.Ser4Tyr	102.0	0.0		78.0	4.0	NM_014292	A8KAH0|Q96EM5	Missense_Mutation	SNP	ENST00000407418.3	hg19	CCDS13980.1	.	.	.	.	.	.	.	.	.	.	g	18.83	3.706279	0.68615	.	.	ENSG00000183741	ENST00000407418;ENST00000216083	.	.	.	4.58	3.56	0.40772	Chromo domain-like (1);	2.001140	0.02767	N	0.119287	D	0.82628	0.5078	M	0.83223	2.63	0.37471	D	0.915621	D;D	0.89917	1.0;0.997	D;D	0.87578	0.998;0.987	T	0.65726	-0.6098	9	0.87932	D	0	.	11.5557	0.50745	0.0894:0.0:0.9106:0.0	.	4;4	B3KT27;O95503	.;CBX6_HUMAN	Y	4	.	ENSP00000216083:S4Y	S	-	2	0	CBX6	37598131	1.000000	0.71417	1.000000	0.80357	0.461000	0.32589	6.356000	0.73046	1.143000	0.42306	0.543000	0.68304	TCT	.	.		0.736	CBX6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318190.1	NM_014292	
SYNGR1	9145	hgsc.bcm.edu	37	22	39760240	39760240	+	Intron	SNP	C	C	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr22:39760240C>T	ENST00000328933.5	+	2	114				SYNGR1_ENST00000406293.3_Intron|SYNGR1_ENST00000216155.7_Intron|SYNGR1_ENST00000318801.4_Intron|SYNGR1_ENST00000381535.4_Missense_Mutation_p.S14L	NM_004711.4	NP_004702.2	O43759	SNG1_HUMAN	synaptogyrin 1						protein targeting (GO:0006605)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle membrane (GO:0030672)				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	7	Melanoma(58;0.04)					TTCGATCCTTCATGGATAGGC	0.592																																					p.S14L		Atlas-SNP	.											.	SYNGR1	19	.	0			c.C41T						.						166.0	143.0	151.0					22																	39760240		2203	4300	6503	SO:0001627	intron_variant	9145	exon1			ATCCTTCATGGAT	AJ002303	CCDS13989.1, CCDS13990.1, CCDS13991.1	22q13	2008-06-10			ENSG00000100321	ENSG00000100321			11498	protein-coding gene	gene with protein product		603925				9760194, 10595519	Standard	NM_004711		Approved			O43759	OTTHUMG00000030978	ENST00000328933.5:c.100-10081C>T	chr22.hg19:g.39760240C>T		183.0	0.0		97.0	4.0	NM_145738	A6NP69|A8K0E2|O43757|O43758|Q53Y02|Q96J56|Q9UGZ4	Missense_Mutation	SNP	ENST00000328933.5	hg19	CCDS13989.1	.	.	.	.	.	.	.	.	.	.	C	6.932	0.541712	0.13250	.	.	ENSG00000100321	ENST00000381535	.	.	.	1.3	1.3	0.21679	.	.	.	.	.	T	0.37598	0.1009	.	.	.	0.09310	N	1	P	0.51449	0.945	P	0.54965	0.765	T	0.17018	-1.0383	7	0.22706	T	0.39	.	6.0176	0.19611	0.0:1.0:0.0:0.0	.	14	O43759-3	.	L	14	.	ENSP00000370946:S14L	S	+	2	0	SYNGR1	38090186	0.000000	0.05858	0.071000	0.20095	0.048000	0.14542	-0.226000	0.09139	1.043000	0.40175	0.563000	0.77884	TCA	.	.		0.592	SYNGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075866.2	NM_004711	
SYNGR1	9145	hgsc.bcm.edu	37	22	39772194	39772194	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr22:39772194T>C	ENST00000328933.5	+	3	490	c.475T>C	c.(475-477)Ttc>Ctc	p.F159L	SYNGR1_ENST00000406293.3_Missense_Mutation_p.F159L|SYNGR1_ENST00000318801.4_Missense_Mutation_p.F159L|SYNGR1_ENST00000381535.4_Missense_Mutation_p.F160L	NM_004711.4	NP_004702.2	O43759	SNG1_HUMAN	synaptogyrin 1	159	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				protein targeting (GO:0006605)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle membrane (GO:0030672)				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	7	Melanoma(58;0.04)					TTTCTCCATCTTCACCTGGGT	0.647																																					p.F160L		Atlas-SNP	.											.	SYNGR1	19	.	0			c.T478C						.						94.0	101.0	99.0					22																	39772194		2203	4300	6503	SO:0001583	missense	9145	exon3			TCCATCTTCACCT	AJ002303	CCDS13989.1, CCDS13990.1, CCDS13991.1	22q13	2008-06-10			ENSG00000100321	ENSG00000100321			11498	protein-coding gene	gene with protein product		603925				9760194, 10595519	Standard	NM_004711		Approved			O43759	OTTHUMG00000030978	ENST00000328933.5:c.475T>C	chr22.hg19:g.39772194T>C	ENSP00000332287:p.Phe159Leu	199.0	0.0		115.0	5.0	NM_145738	A6NP69|A8K0E2|O43757|O43758|Q53Y02|Q96J56|Q9UGZ4	Missense_Mutation	SNP	ENST00000328933.5	hg19	CCDS13989.1	.	.	.	.	.	.	.	.	.	.	T	18.17	3.563669	0.65651	.	.	ENSG00000100321	ENST00000318801;ENST00000406293;ENST00000328933;ENST00000381535	T;T;T;T	0.21932	1.98;1.98;1.98;1.98	5.21	5.21	0.72293	Marvel (1);MARVEL-like domain (1);	0.000000	0.85682	D	0.000000	T	0.34424	0.0897	L	0.48877	1.53	0.58432	D	0.999998	D;P;D;D	0.76494	0.999;0.951;0.999;0.999	D;P;D;D	0.83275	0.996;0.703;0.978;0.995	T	0.09729	-1.0661	10	0.02654	T	1	.	15.3829	0.74673	0.0:0.0:0.0:1.0	.	160;153;159;159	O43759-3;Q59FT7;O43759;O43759-2	.;.;SNG1_HUMAN;.	L	159;159;159;160	ENSP00000318845:F159L;ENSP00000385447:F159L;ENSP00000332287:F159L;ENSP00000370946:F160L	ENSP00000318845:F159L	F	+	1	0	SYNGR1	38102140	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.986000	0.63851	2.088000	0.63022	0.454000	0.30748	TTC	.	.		0.647	SYNGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075866.2	NM_004711	
MGAT3	4248	hgsc.bcm.edu	37	22	39883578	39883578	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr22:39883578T>C	ENST00000341184.6	+	2	441	c.226T>C	c.(226-228)Tcc>Ccc	p.S76P		NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase	76	Pro-rich.				cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0003830)			endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					CCCACTCTACTCCCACTCGCC	0.672																																					p.S76P		Atlas-SNP	.											.	MGAT3	65	.	0			c.T226C						.						38.0	45.0	42.0					22																	39883578		2203	4299	6502	SO:0001583	missense	4248	exon2			CTCTACTCCCACT	D13789	CCDS13994.2	22q13.1	2013-02-25			ENSG00000128268	ENSG00000128268	2.4.1.144	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7046	protein-coding gene	gene with protein product		604621				8370666	Standard	NM_002409		Approved	GNT-III	uc010gxy.3	Q09327	OTTHUMG00000030185	ENST00000341184.6:c.226T>C	chr22.hg19:g.39883578T>C	ENSP00000345270:p.Ser76Pro	53.0	0.0		50.0	4.0	NM_002409	A6NGD0|Q14CK5|Q6IC49|Q9UH32	Missense_Mutation	SNP	ENST00000341184.6	hg19	CCDS13994.2	.	.	.	.	.	.	.	.	.	.	T	5.092	0.202533	0.09652	.	.	ENSG00000128268	ENST00000341184;ENST00000429402;ENST00000418314	.	.	.	4.93	4.93	0.64822	.	0.425233	0.22894	N	0.054343	T	0.24353	0.0590	L	0.27053	0.805	0.29464	N	0.85752	P	0.43826	0.818	B	0.34722	0.188	T	0.11084	-1.0602	9	0.40728	T	0.16	.	14.2384	0.65941	0.0:0.0:0.0:1.0	.	76	Q09327	MGAT3_HUMAN	P	76;76;104	.	ENSP00000345270:S76P	S	+	1	0	MGAT3	38213524	1.000000	0.71417	0.999000	0.59377	0.148000	0.21650	2.658000	0.46733	1.849000	0.53698	0.383000	0.25322	TCC	.	.		0.672	MGAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075039.2	NM_002409	
CACNA1I	8911	hgsc.bcm.edu	37	22	40068952	40068952	+	Splice_Site	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr22:40068952A>G	ENST00000402142.3	+	28	4649		c.e28-1		CACNA1I_ENST00000407673.1_Splice_Site|CACNA1I_ENST00000404898.1_Splice_Site|CACNA1I_ENST00000336649.4_Splice_Site|CACNA1I_ENST00000400164.3_Splice_Site|CACNA1I_ENST00000401624.1_Splice_Site	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit						axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|signal transduction (GO:0007165)|sleep (GO:0030431)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Cinnarizine(DB00568)|Flunarizine(DB04841)|Paramethadione(DB00617)|Spironolactone(DB00421)|Verapamil(DB00661)|Zonisamide(DB00909)	ACGGCTGAGCAGATGGAACCA	0.592																																					.		Atlas-SNP	.											.	CACNA1I	264	.	0			c.4650-2A>G						.						58.0	60.0	59.0					22																	40068952		2141	4243	6384	SO:0001630	splice_region_variant	8911	exon28			CTGAGCAGATGGA	AF129133	CCDS46710.1, CCDS46711.1	22q13.1	2012-03-07	2007-02-16		ENSG00000100346	ENSG00000100346		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1396	protein-coding gene	gene with protein product		608230				10454147, 16382099	Standard	NM_021096		Approved	Cav3.3	uc003ayd.3	Q9P0X4	OTTHUMG00000151096	ENST00000402142.3:c.4650-1A>G	chr22.hg19:g.40068952A>G		160.0	0.0		91.0	4.0	NM_021096	B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Splice_Site	SNP	ENST00000402142.3	hg19	CCDS46710.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.954069	0.73902	.	.	ENSG00000100346	ENST00000402142;ENST00000404898;ENST00000401624;ENST00000407673;ENST00000336649;ENST00000400164	.	.	.	4.73	4.73	0.59995	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.2158	0.65792	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CACNA1I	38398898	1.000000	0.71417	0.961000	0.40146	0.819000	0.46315	9.275000	0.95738	1.754000	0.51921	0.454000	0.30748	.	.	.		0.592	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321290.1	NM_001003406	Intron
FAM83F	113828	hgsc.bcm.edu	37	22	40417619	40417619	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr22:40417619T>C	ENST00000333407.6	+	4	1199	c.1105T>C	c.(1105-1107)Tgg>Cgg	p.W369R	FAM83F_ENST00000473717.1_Missense_Mutation_p.W201R	NM_138435.2	NP_612444.2	Q8NEG4	FA83F_HUMAN	family with sequence similarity 83, member F	369										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|skin(4)|urinary_tract(2)	14						CGAGTCGGCCTGGCGCCTGGA	0.711																																					p.W369R		Atlas-SNP	.											.	FAM83F	29	.	0			c.T1105C						.						27.0	24.0	25.0					22																	40417619		2203	4300	6503	SO:0001583	missense	113828	exon4			TCGGCCTGGCGCC		CCDS14000.2	22q13.1	2006-03-22			ENSG00000133477	ENSG00000133477			25148	protein-coding gene	gene with protein product						12477932	Standard	NM_138435		Approved		uc003ayk.1	Q8NEG4	OTTHUMG00000150688	ENST00000333407.6:c.1105T>C	chr22.hg19:g.40417619T>C	ENSP00000330432:p.Trp369Arg	36.0	0.0		29.0	4.0	NM_138435	Q96FD6	Missense_Mutation	SNP	ENST00000333407.6	hg19	CCDS14000.2	.	.	.	.	.	.	.	.	.	.	C	0.012	-1.674767	0.00758	.	.	ENSG00000133477	ENST00000333407	T	0.05996	3.36	4.65	3.64	0.41730	.	0.879723	0.09934	N	0.736796	T	0.01765	0.0056	N	0.01048	-1.04	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45381	-0.9265	10	0.02654	T	1	-4.3881	4.4001	0.11383	0.2253:0.588:0.0:0.1867	.	369	Q8NEG4	FA83F_HUMAN	R	369	ENSP00000330432:W369R	ENSP00000330432:W369R	W	+	1	0	FAM83F	38747565	0.001000	0.12720	0.951000	0.38953	0.426000	0.31534	0.312000	0.19397	0.592000	0.29728	-0.374000	0.07098	TGG	.	.		0.711	FAM83F-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319624.3	NM_138435	
FAM83F	113828	hgsc.bcm.edu	37	22	40417665	40417665	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr22:40417665T>C	ENST00000333407.6	+	4	1245	c.1151T>C	c.(1150-1152)gTg>gCg	p.V384A	FAM83F_ENST00000473717.1_Missense_Mutation_p.V216A	NM_138435.2	NP_612444.2	Q8NEG4	FA83F_HUMAN	family with sequence similarity 83, member F	384										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|skin(4)|urinary_tract(2)	14						GTGGAGCAGGTGCTGCCCCCC	0.667																																					p.V384A		Atlas-SNP	.											.	FAM83F	29	.	0			c.T1151C						.						37.0	31.0	33.0					22																	40417665		2203	4300	6503	SO:0001583	missense	113828	exon4			AGCAGGTGCTGCC		CCDS14000.2	22q13.1	2006-03-22			ENSG00000133477	ENSG00000133477			25148	protein-coding gene	gene with protein product						12477932	Standard	NM_138435		Approved		uc003ayk.1	Q8NEG4	OTTHUMG00000150688	ENST00000333407.6:c.1151T>C	chr22.hg19:g.40417665T>C	ENSP00000330432:p.Val384Ala	118.0	0.0		88.0	5.0	NM_138435	Q96FD6	Missense_Mutation	SNP	ENST00000333407.6	hg19	CCDS14000.2	.	.	.	.	.	.	.	.	.	.	T	7.621	0.676738	0.14841	.	.	ENSG00000133477	ENST00000333407	T	0.09723	2.95	4.74	3.71	0.42584	.	0.841667	0.10433	N	0.675298	T	0.07369	0.0186	L	0.29908	0.895	0.09310	N	1	B	0.12630	0.006	B	0.09377	0.004	T	0.44034	-0.9354	10	0.15952	T	0.53	-7.1522	4.9879	0.14200	0.2722:0.079:0.0:0.6487	.	384	Q8NEG4	FA83F_HUMAN	A	384	ENSP00000330432:V384A	ENSP00000330432:V384A	V	+	2	0	FAM83F	38747611	0.029000	0.19370	0.945000	0.38365	0.422000	0.31414	-0.044000	0.12023	0.860000	0.35481	0.379000	0.24179	GTG	.	.		0.667	FAM83F-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319624.3	NM_138435	
SLC25A17	10478	hgsc.bcm.edu	37	22	41173121	41173121	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr22:41173121A>G	ENST00000435456.2	-	7	749	c.616T>C	c.(616-618)Ttc>Ctc	p.F206L	SLC25A17_ENST00000402844.3_Missense_Mutation_p.F124L|SLC25A17_ENST00000544408.1_Missense_Mutation_p.F169L|SLC25A17_ENST00000491545.1_5'UTR|SLC25A17_ENST00000542412.1_Missense_Mutation_p.F133L	NM_006358.2	NP_006349.1	O43808	PM34_HUMAN	solute carrier family 25 (mitochondrial carrier; peroxisomal membrane protein, 34kDa), member 17	206					ADP transport (GO:0015866)|AMP transport (GO:0080121)|ATP transport (GO:0015867)|cellular lipid metabolic process (GO:0044255)|coenzyme A transmembrane transport (GO:0035349)|FAD transmembrane transport (GO:0035350)|fatty acid alpha-oxidation (GO:0001561)|fatty acid beta-oxidation (GO:0006635)|fatty acid transport (GO:0015908)|NAD transport (GO:0043132)|nucleotide transmembrane transport (GO:1901679)|small molecule metabolic process (GO:0044281)	integral component of peroxisomal membrane (GO:0005779)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ADP transmembrane transporter activity (GO:0015217)|AMP transmembrane transporter activity (GO:0080122)|ATP transmembrane transporter activity (GO:0005347)|chaperone binding (GO:0051087)|coenzyme A transmembrane transporter activity (GO:0015228)|FAD transmembrane transporter activity (GO:0015230)|FMN transmembrane transporter activity (GO:0044610)|NAD transporter activity (GO:0051724)			central_nervous_system(1)|large_intestine(4)|lung(2)|skin(1)	8						CCAATGATGAACACATCCAAG	0.448																																					p.F206L		Atlas-SNP	.											.	SLC25A17	25	.	0			c.T616C						.						94.0	80.0	85.0					22																	41173121		2203	4300	6503	SO:0001583	missense	10478	exon7			TGATGAACACATC	Y12860	CCDS14005.1, CCDS74868.1	22q13.2	2013-05-22	2002-08-29		ENSG00000100372	ENSG00000100372		"""Solute carriers"""	10987	protein-coding gene	gene with protein product	"""peroxisomal membrane protein (34kD)"""	606795	"""solute carrier family 25 (mitochondrial carrier; peroxisomal membrane protein, 34kD), member 17"""			9874197	Standard	NM_006358		Approved	PMP34	uc003azc.3	O43808	OTTHUMG00000151139	ENST00000435456.2:c.616T>C	chr22.hg19:g.41173121A>G	ENSP00000390722:p.Phe206Leu	103.0	0.0		63.0	5.0	NM_006358	A8KA59|Q5TFL0|Q9UGW8|Q9UGY7	Missense_Mutation	SNP	ENST00000435456.2	hg19	CCDS14005.1	.	.	.	.	.	.	.	.	.	.	A	35	5.509637	0.96386	.	.	ENSG00000100372	ENST00000435456;ENST00000402844;ENST00000544408;ENST00000542412	T;T;T;T	0.75821	-0.97;-0.97;-0.97;-0.97	5.65	5.65	0.86999	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	T	0.81531	0.4842	L	0.50847	1.595	0.80722	D	1	D;D;D	0.71674	0.994;0.998;0.998	D;D;D	0.80764	0.944;0.994;0.991	T	0.77067	-0.2725	10	0.16420	T	0.52	-14.2959	16.1864	0.81955	1.0:0.0:0.0:0.0	.	133;169;206	F5GYD1;B4DU97;O43808	.;.;PM34_HUMAN	L	206;124;169;133	ENSP00000390722:F206L;ENSP00000385303:F124L;ENSP00000438355:F169L;ENSP00000446471:F133L	ENSP00000385303:F124L	F	-	1	0	SLC25A17	39503067	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.988000	0.93501	2.281000	0.76405	0.528000	0.53228	TTC	.	.		0.448	SLC25A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321487.1	NM_006358	
PKDREJ	10343	hgsc.bcm.edu	37	22	46656423	46656423	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr22:46656423T>C	ENST00000253255.5	-	1	2796	c.2797A>G	c.(2797-2799)Atg>Gtg	p.M933V		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	933					acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		ACTCCTGTCATTCTGAATCCA	0.413																																					p.M933V		Atlas-SNP	.											.	PKDREJ	195	.	0			c.A2797G						.						160.0	169.0	166.0					22																	46656423		2203	4300	6503	SO:0001583	missense	10343	exon1			CTGTCATTCTGAA	AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like"", ""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like"", ""polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"""			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.2797A>G	chr22.hg19:g.46656423T>C	ENSP00000253255:p.Met933Val	114.0	0.0		84.0	6.0	NM_006071	B1AJY3|O95850	Missense_Mutation	SNP	ENST00000253255.5	hg19	CCDS14073.1	.	.	.	.	.	.	.	.	.	.	T	14.53	2.563031	0.45694	.	.	ENSG00000130943	ENST00000253255	T	0.40756	1.02	5.33	3.17	0.36434	.	0.439248	0.23442	N	0.048134	T	0.33265	0.0857	L	0.59436	1.845	0.30837	N	0.736037	P	0.38788	0.647	B	0.32465	0.146	T	0.40813	-0.9543	10	0.72032	D	0.01	-25.1043	6.6959	0.23199	0.1365:0.0746:0.0:0.7889	.	933	Q9NTG1	PKDRE_HUMAN	V	933	ENSP00000253255:M933V	ENSP00000253255:M933V	M	-	1	0	PKDREJ	45035087	0.995000	0.38212	0.860000	0.33809	0.577000	0.36160	1.704000	0.37857	0.407000	0.25591	0.533000	0.62120	ATG	.	.		0.413	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071	
GTSE1	51512	hgsc.bcm.edu	37	22	46704325	46704325	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr22:46704325A>G	ENST00000454366.1	+	4	459	c.247A>G	c.(247-249)Aca>Gca	p.T83A		NM_016426.6	NP_057510	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	64					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|microtubule-based process (GO:0007017)	cytoplasmic microtubule (GO:0005881)|membrane (GO:0016020)				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		TCCGTTGCCCACATCTGAGAG	0.498																																					p.T83A	GBM(153;542 1915 12487 29016 50495)	Atlas-SNP	.											.	GTSE1	100	.	0			c.A247G						.						105.0	116.0	112.0					22																	46704325		2203	4300	6503	SO:0001583	missense	51512	exon4			TTGCCCACATCTG	AF223408	CCDS14074.2	22q13.2-q13.3	2008-06-10			ENSG00000075218	ENSG00000075218			13698	protein-coding gene	gene with protein product		607477				10974554, 10984615, 12750368	Standard	NM_016426		Approved	GTSE-1, B99	uc011aqy.2	Q9NYZ3	OTTHUMG00000150486	ENST00000454366.1:c.247A>G	chr22.hg19:g.46704325A>G	ENSP00000415430:p.Thr83Ala	128.0	0.0		80.0	4.0	NM_016426	B0QYM3|Q20WK2|Q53GX5|Q5R3I6|Q6DHX4|Q9BRE0|Q9UGZ9|Q9Y557	Missense_Mutation	SNP	ENST00000454366.1	hg19	CCDS14074.2	.	.	.	.	.	.	.	.	.	.	G	0.690	-0.794801	0.02862	.	.	ENSG00000075218	ENST00000454366;ENST00000361934	T	0.06294	3.32	4.88	3.77	0.43336	.	0.791236	0.10885	N	0.623396	T	0.01353	0.0044	N	0.00347	-1.61	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45585	-0.9251	10	0.06625	T	0.88	-0.5449	3.2106	0.06681	0.0897:0.129:0.4894:0.2919	.	64	Q9NYZ3	GTSE1_HUMAN	A	83;43	ENSP00000415430:T83A	ENSP00000354634:T43A	T	+	1	0	GTSE1	45082989	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	0.168000	0.16622	1.379000	0.46325	-0.213000	0.12676	ACA	.	.		0.498	GTSE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318360.2	NM_016426	
CELSR1	9620	hgsc.bcm.edu	37	22	46860155	46860155	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr22:46860155A>G	ENST00000262738.3	-	2	3631	c.3632T>C	c.(3631-3633)cTg>cCg	p.L1211P	CELSR1_ENST00000395964.1_Missense_Mutation_p.L1211P	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1211	Cadherin 9. {ECO:0000255|PROSITE- ProRule:PRU00043}.				anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CATGTTCTCCAGGCGGACAGT	0.617																																					p.L1211P		Atlas-SNP	.											.	CELSR1	242	.	0			c.T3632C						.						100.0	83.0	88.0					22																	46860155		2203	4300	6503	SO:0001583	missense	9620	exon2			TTCTCCAGGCGGA	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	1850	protein-coding gene	gene with protein product	"""flamingo homolog 2 (Drosophila)"""	604523	"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.3632T>C	chr22.hg19:g.46860155A>G	ENSP00000262738:p.Leu1211Pro	149.0	0.0		100.0	4.0	NM_014246	O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	ENST00000262738.3	hg19	CCDS14076.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	21.8|21.8	4.199213|4.199213	0.79015|0.79015	.|.	.|.	ENSG00000075275|ENSG00000075275	ENST00000262738;ENST00000395964|ENST00000454637	T;T|.	0.74002|.	-0.8;-0.33|.	4.68|4.68	4.68|4.68	0.58851|0.58851	Cadherin (1);|.	0.000000|.	0.52532|.	U|.	0.000069|.	T|T	0.78451|0.78451	0.4285|0.4285	M|M	0.86343|0.86343	2.81|2.81	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	T|T	0.81786|0.81786	-0.0773|-0.0773	10|5	0.87932|.	D|.	0|.	.|.	13.8213|13.8213	0.63322|0.63322	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1211|.	Q9NYQ6|.	CELR1_HUMAN|.	P|R	1211|586	ENSP00000262738:L1211P;ENSP00000379293:L1211P|.	ENSP00000262738:L1211P|.	L|W	-|-	2|1	0|0	CELSR1|CELSR1	45238819|45238819	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	8.568000|8.568000	0.90741|0.90741	1.743000|1.743000	0.51761|0.51761	0.533000|0.533000	0.62120|0.62120	CTG|TGG	.	.		0.617	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246	
BRD1	23774	hgsc.bcm.edu	37	22	50181097	50181097	+	Missense_Mutation	SNP	C	C	A	rs140147452		TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr22:50181097C>A	ENST00000216267.8	-	7	2891	c.2405G>T	c.(2404-2406)cGg>cTg	p.R802L	BRD1_ENST00000404760.1_Missense_Mutation_p.R933L|BRD1_ENST00000404034.1_Missense_Mutation_p.R802L|BRD1_ENST00000457780.2_Nonsense_Mutation_p.G906*|BRD1_ENST00000342989.5_Missense_Mutation_p.R528L|BRD1_ENST00000542442.1_Missense_Mutation_p.R490L	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	802					histone H3 acetylation (GO:0043966)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleus (GO:0005634)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		GCATGTGCTCCGCGACCTTTT	0.602																																					p.R802L		Atlas-SNP	.											BRD1_ENST00000342989,colon,carcinoma,-1,2	BRD1	144	.	0			c.G2405T						.						60.0	62.0	61.0					22																	50181097		2203	4300	6503	SO:0001583	missense	23774	exon7			GTGCTCCGCGACC	AF005067	CCDS14080.1	22q13.33	2008-07-01	2002-01-14		ENSG00000100425	ENSG00000100425			1102	protein-coding gene	gene with protein product	"""BR140-like"""	604589	"""bromodomain-containing 1"""			10591208, 10602503	Standard	NM_014577		Approved	BRL, BRPF2	uc003biv.3	O95696	OTTHUMG00000150288	ENST00000216267.8:c.2405G>T	chr22.hg19:g.50181097C>A	ENSP00000216267:p.Arg802Leu	81.0	0.0		59.0	4.0	NM_014577	A6ZJA4	Missense_Mutation	SNP	ENST00000216267.8	hg19	CCDS14080.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	40|40	8.169614|8.169614	0.98688|0.98688	.|.	.|.	ENSG00000100425|ENSG00000100425	ENST00000457780|ENST00000216267;ENST00000404034;ENST00000404760;ENST00000542442;ENST00000342989;ENST00000419212	.|T;T;T;T;T	.|0.34472	.|2.34;2.34;2.34;1.36;1.76	5.39|5.39	5.39|5.39	0.77823|0.77823	.|.	.|0.173334	.|0.49305	.|D	.|0.000153	.|T	.|0.53110	.|0.1776	L|L	0.58428|0.58428	1.81|1.81	0.80722|0.80722	A|A	1|1	.|D;D;D;D	.|0.63046	.|0.983;0.992;0.983;0.99	.|P;P;P;P	.|0.60236	.|0.746;0.846;0.629;0.871	.|T	.|0.40059	.|-0.9583	.|9	0.15952|0.23302	T|T	0.53|0.38	.|.	19.1506|19.1506	0.93487|0.93487	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|933;528;802;933	.|Q86X06;B7Z926;O95696;O95696-2	.|.;.;BRD1_HUMAN;.	X|L	906|802;802;933;490;528;393	.|ENSP00000216267:R802L;ENSP00000384076:R802L;ENSP00000385858:R933L;ENSP00000437514:R490L;ENSP00000345886:R528L	ENSP00000410042:G906X|ENSP00000216267:R802L	G|R	-|-	1|2	0|0	BRD1|BRD1	48567101|48567101	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.063000|3.063000	0.49978|0.49978	2.527000|2.527000	0.85204|0.85204	0.655000|0.655000	0.94253|0.94253	GGA|CGG	.	C|1.000;T|0.000		0.602	BRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317402.1	NM_014577	
TYMP	1890	hgsc.bcm.edu	37	22	50966131	50966131	+	Missense_Mutation	SNP	C	C	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr22:50966131C>A	ENST00000252029.3	-	5	694	c.532G>T	c.(532-534)Gac>Tac	p.D178Y	SCO2_ENST00000252785.3_5'Flank|SCO2_ENST00000543927.1_5'Flank|TYMP_ENST00000395680.1_Missense_Mutation_p.D178Y|TYMP_ENST00000395678.3_Missense_Mutation_p.D178Y|SCO2_ENST00000395693.3_5'Flank|TYMP_ENST00000395681.1_Missense_Mutation_p.D178Y|CTA-384D8.36_ENST00000608319.1_RNA|SCO2_ENST00000535425.1_5'Flank	NM_001113755.2|NM_001113756.2|NM_001257988.1|NM_001257989.1|NM_001953.4	NP_001107227.1|NP_001107228.1|NP_001244917.1|NP_001244918.1|NP_001944.1	P19971	TYPH_HUMAN	thymidine phosphorylase	178					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|chemotaxis (GO:0006935)|DNA replication (GO:0006260)|mitochondrial genome maintenance (GO:0000002)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|pyrimidine nucleoside salvage (GO:0043097)|pyrimidine nucleotide metabolic process (GO:0006220)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	phosphorylase activity (GO:0004645)|platelet-derived growth factor receptor binding (GO:0005161)|pyrimidine-nucleoside phosphorylase activity (GO:0016154)|thymidine phosphorylase activity (GO:0009032)|transferase activity, transferring pentosyl groups (GO:0016763)			large_intestine(1)|lung(2)|ovary(1)|prostate(1)	5		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	Capecitabine(DB01101)|Cidofovir(DB00369)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Trifluridine(DB00432)	CCCGCCTGGTCCAGCAGCACT	0.488																																					p.D178Y		Atlas-SNP	.											.	TYMP	25	.	0			c.G532T						.						78.0	77.0	77.0					22																	50966131		2203	4300	6503	SO:0001583	missense	1890	exon5			CCTGGTCCAGCAG	M63193	CCDS14096.1, CCDS58811.1	22q13	2014-09-17	2008-01-21	2008-01-21	ENSG00000025708	ENSG00000025708	2.4.2.4		3148	protein-coding gene	gene with protein product	"""gliostatin"""	131222	"""endothelial cell growth factor 1 (platelet-derived)"""	MNGIE, ECGF1		1590793, 11733540	Standard	NM_001113755		Approved		uc003bme.5	P19971	OTTHUMG00000150249	ENST00000252029.3:c.532G>T	chr22.hg19:g.50966131C>A	ENSP00000252029:p.Asp178Tyr	119.0	0.0		96.0	4.0	NM_001257989	A8MW15|H9KVA0|Q13390|Q8WVB7	Missense_Mutation	SNP	ENST00000252029.3	hg19	CCDS14096.1	.	.	.	.	.	.	.	.	.	.	C	8.105	0.777440	0.16120	.	.	ENSG00000025708	ENST00000395680;ENST00000395681;ENST00000252029;ENST00000395678;ENST00000425169	D;D;D;D;D	0.98512	-4.97;-4.97;-4.97;-4.97;-4.97	4.99	4.99	0.66335	Glycosyl transferase, family 3 (3);	0.791796	0.11523	N	0.555539	D	0.96275	0.8785	L	0.43923	1.385	0.24730	N	0.99309	B;B;B;B	0.30326	0.276;0.136;0.136;0.136	B;B;B;B	0.30105	0.111;0.059;0.059;0.059	D	0.93217	0.6605	10	0.87932	D	0	-10.8425	11.6426	0.51242	0.0:0.8204:0.1796:0.0	.	178;178;178;178	B4DVR2;B2RBL3;E5KRG5;P19971	.;.;.;TYPH_HUMAN	Y	178;178;178;178;145	ENSP00000379037:D178Y;ENSP00000379038:D178Y;ENSP00000252029:D178Y;ENSP00000379036:D178Y;ENSP00000395875:D145Y	ENSP00000252029:D178Y	D	-	1	0	TYMP	49312997	0.969000	0.33509	0.094000	0.20943	0.066000	0.16364	2.004000	0.40854	2.323000	0.78572	0.462000	0.41574	GAC	.	.		0.488	TYMP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317081.1	NM_001953	
TYMP	1890	hgsc.bcm.edu	37	22	50968110	50968110	+	Missense_Mutation	SNP	C	C	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr22:50968110C>A	ENST00000252029.3	-	2	191	c.29G>T	c.(28-30)gGg>gTg	p.G10V	TYMP_ENST00000395680.1_Missense_Mutation_p.G10V|TYMP_ENST00000395678.3_Missense_Mutation_p.G10V|TYMP_ENST00000395681.1_Missense_Mutation_p.G10V	NM_001113755.2|NM_001113756.2|NM_001257988.1|NM_001257989.1|NM_001953.4	NP_001107227.1|NP_001107228.1|NP_001244917.1|NP_001244918.1|NP_001944.1	P19971	TYPH_HUMAN	thymidine phosphorylase	10					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|chemotaxis (GO:0006935)|DNA replication (GO:0006260)|mitochondrial genome maintenance (GO:0000002)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|pyrimidine nucleoside salvage (GO:0043097)|pyrimidine nucleotide metabolic process (GO:0006220)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	phosphorylase activity (GO:0004645)|platelet-derived growth factor receptor binding (GO:0005161)|pyrimidine-nucleoside phosphorylase activity (GO:0016154)|thymidine phosphorylase activity (GO:0009032)|transferase activity, transferring pentosyl groups (GO:0016763)			large_intestine(1)|lung(2)|ovary(1)|prostate(1)	5		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	Capecitabine(DB01101)|Cidofovir(DB00369)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Trifluridine(DB00432)	GGGTGGGGCCCCGGTTCCCGG	0.706																																					p.G10V		Atlas-SNP	.											.	TYMP	25	.	0			c.G29T						.						11.0	15.0	14.0					22																	50968110		2187	4288	6475	SO:0001583	missense	1890	exon2			GGGGCCCCGGTTC	M63193	CCDS14096.1, CCDS58811.1	22q13	2014-09-17	2008-01-21	2008-01-21	ENSG00000025708	ENSG00000025708	2.4.2.4		3148	protein-coding gene	gene with protein product	"""gliostatin"""	131222	"""endothelial cell growth factor 1 (platelet-derived)"""	MNGIE, ECGF1		1590793, 11733540	Standard	NM_001113755		Approved		uc003bme.5	P19971	OTTHUMG00000150249	ENST00000252029.3:c.29G>T	chr22.hg19:g.50968110C>A	ENSP00000252029:p.Gly10Val	174.0	0.0		99.0	4.0	NM_001257989	A8MW15|H9KVA0|Q13390|Q8WVB7	Missense_Mutation	SNP	ENST00000252029.3	hg19	CCDS14096.1	.	.	.	.	.	.	.	.	.	.	C	9.324	1.058845	0.19987	.	.	ENSG00000025708	ENST00000395680;ENST00000395681;ENST00000252029;ENST00000395678;ENST00000425169	D;D;D;D;D	0.97505	-4.41;-4.4;-4.41;-4.41;-4.37	3.51	-3.9	0.04181	.	.	.	.	.	D	0.88599	0.6480	N	0.08118	0	0.09310	N	1	B;B;B;B	0.11235	0.004;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.0;0.0;0.0	T	0.78971	-0.1993	9	0.87932	D	0	1.3718	0.9455	0.01365	0.2724:0.3466:0.2204:0.1605	.	10;10;10;10	B4DVR2;B2RBL3;E5KRG5;P19971	.;.;.;TYPH_HUMAN	V	10	ENSP00000379037:G10V;ENSP00000379038:G10V;ENSP00000252029:G10V;ENSP00000379036:G10V;ENSP00000395875:G10V	ENSP00000252029:G10V	G	-	2	0	TYMP	49314976	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-3.550000	0.00434	-0.221000	0.09973	-0.379000	0.06801	GGG	.	.		0.706	TYMP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317081.1	NM_001953	
CPT1B	1375	hgsc.bcm.edu	37	22	51011460	51011460	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr22:51011460A>G	ENST00000360719.2	-	11	1333	c.1196T>C	c.(1195-1197)tTc>tCc	p.F399S	CPT1B_ENST00000405237.3_Missense_Mutation_p.F399S|CPT1B_ENST00000440709.1_Intron|CPT1B_ENST00000457250.1_Missense_Mutation_p.F365S|CPT1B_ENST00000395650.2_Missense_Mutation_p.F399S|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000434492.2_Missense_Mutation_p.F196S|CPT1B_ENST00000312108.7_Missense_Mutation_p.F399S	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)	399					carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		AGAGCTAAAGAAGGCCTGGCG	0.607																																					p.F399S	Esophageal Squamous(170;988 1933 25577 30295 48163)	Atlas-SNP	.											.	CPT1B	61	.	0			c.T1196C						.						47.0	45.0	45.0					22																	51011460		2203	4300	6503	SO:0001583	missense	1375	exon11			CTAAAGAAGGCCT	U62733	CCDS14098.1, CCDS46734.1	22q13.33	2007-07-26			ENSG00000205560	ENSG00000205560			2329	protein-coding gene	gene with protein product		601987				9070950	Standard	NM_152245		Approved	M-CPT1, CPT1-M	uc003bmm.3	Q92523	OTTHUMG00000137390	ENST00000360719.2:c.1196T>C	chr22.hg19:g.51011460A>G	ENSP00000353945:p.Phe399Ser	62.0	0.0		42.0	4.0	NM_001145135	B7Z4U4|B7Z5T8|E9PCP2|Q13389|Q99655|Q9BY90	Missense_Mutation	SNP	ENST00000360719.2	hg19	CCDS14098.1	.	.	.	.	.	.	.	.	.	.	A	15.40	2.823721	0.50739	.	.	ENSG00000205560	ENST00000405237;ENST00000312108;ENST00000360719;ENST00000457250;ENST00000434492;ENST00000395650	D;D;D;D;D;D	0.89552	-2.53;-2.53;-2.53;-2.53;-2.53;-2.53	4.98	2.69	0.31865	.	0.233858	0.45126	D	0.000392	D	0.90253	0.6952	M	0.83118	2.625	0.47621	D	0.999472	B;P;P	0.39131	0.293;0.661;0.661	B;P;B	0.45794	0.392;0.493;0.371	D	0.89351	0.3661	10	0.72032	D	0.01	-25.3512	8.4875	0.33080	0.6487:0.0:0.0:0.3513	.	365;196;399	B7Z4U4;A2RRE8;Q92523	.;.;CPT1B_HUMAN	S	399;399;399;365;196;399	ENSP00000385486:F399S;ENSP00000312189:F399S;ENSP00000353945:F399S;ENSP00000409342:F365S;ENSP00000410966:F196S;ENSP00000379011:F399S	ENSP00000312189:F399S	F	-	2	0	CPT1B	49358326	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	1.417000	0.34770	0.879000	0.35944	0.459000	0.35465	TTC	.	.		0.607	CPT1B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317264.5	NM_152246	
ARSA	410	hgsc.bcm.edu	37	22	51063861	51063861	+	Silent	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr22:51063861A>G	ENST00000547307.1	-	8	1641	c.1236T>C	c.(1234-1236)ccT>ccC	p.P412P	ARSA_ENST00000453344.2_Silent_p.P328P|ARSA_ENST00000610191.1_5'Flank|ARSA_ENST00000216124.5_Silent_p.P414P|ARSA_ENST00000395619.3_Silent_p.P414P|ARSA_ENST00000547805.1_Silent_p.P412P|ARSA_ENST00000356098.5_Silent_p.P414P|ARSA_ENST00000395621.3_Silent_p.P414P			P15289	ARSA_HUMAN	arylsulfatase A	412					autophagy (GO:0006914)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|central nervous system development (GO:0007417)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to methylmercury (GO:0051597)|response to nutrient (GO:0007584)|response to pH (GO:0009268)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum lumen (GO:0005788)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|cerebroside-sulfatase activity (GO:0004098)|sulfuric ester hydrolase activity (GO:0008484)			endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|skin(1)	9		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	Micafungin(DB01141)|Suramin(DB04786)	CGTGGCAGGCAGGGTCTGCAG	0.647																																					p.P414P		Atlas-SNP	.											.	ARSA	19	.	0			c.T1242C						.						47.0	58.0	54.0					22																	51063861		2202	4295	6497	SO:0001819	synonymous_variant	410	exon9			GCAGGCAGGGTCT	X52150	CCDS14100.1, CCDS46736.1, CCDS14100.2	22q13.33	2013-09-19			ENSG00000100299	ENSG00000100299	3.1.6.8	"""Arylsulfatase family"""	713	protein-coding gene	gene with protein product	"""metachromatic leucodystrophy"""	607574				15772092	Standard	NM_000487		Approved		uc003bmz.5	P15289	OTTHUMG00000150180	ENST00000547307.1:c.1236T>C	chr22.hg19:g.51063861A>G		147.0	0.0		91.0	5.0	NM_001085426	B2RCA6|B7XD04|F8WCC8|Q6ICI5|Q96CJ0	Silent	SNP	ENST00000547307.1	hg19																																																																																				.	.		0.647	ARSA-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_000487	
P2RY8	286530	hgsc.bcm.edu	37	X	1585322	1585322	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chrX:1585322A>G	ENST00000381297.4	-	2	340	c.130T>C	c.(130-132)Tct>Cct	p.S44P	P2RY8_ENST00000460672.1_5'Flank	NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN	purinergic receptor P2Y, G-protein coupled, 8	44						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				ACCCACAGAGAGAAGAGGTTG	0.667			T	CRLF2	"""B-ALL, Downs associated ALL"""																																p.S44P		Atlas-SNP	.		Dom	yes		"""X,Y"""	Xp22.3; Yp11.3	286530	"""purinergic receptor P2Y, G-protein coupled, 8"""		L	.	P2RY8	53	.	0			c.T130C						.						49.0	50.0	50.0					X																	1585322		2203	4296	6499	SO:0001583	missense	286530	exon2			ACAGAGAGAAGAG	AA804531	CCDS14115.1	Xp22.33 and Yp11.3	2012-08-08			ENSG00000182162	ENSG00000182162		"""Pseudoautosomal regions / PAR1"", ""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	15524	protein-coding gene	gene with protein product		300525				11004484	Standard	NM_178129		Approved	P2Y8	uc004cpz.2	Q86VZ1	OTTHUMG00000021060	ENST00000381297.4:c.130T>C	chrX.hg19:g.1585322A>G	ENSP00000370697:p.Ser44Pro	94.0	0.0		100.0	4.0	NM_178129		Missense_Mutation	SNP	ENST00000381297.4	hg19	CCDS14115.1	.	.	.	.	.	.	.	.	.	.	a	11.50	1.658548	0.29515	.	.	ENSG00000182162	ENST00000381297	T	0.71817	-0.6	2.1	2.1	0.27182	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	U	0.000001	T	0.80691	0.4671	M	0.74881	2.28	0.19300	N	0.99998	D	0.89917	1.0	D	0.81914	0.995	T	0.70539	-0.4844	10	0.72032	D	0.01	.	9.6627	0.39965	1.0:0.0:0.0:0.0	.	44	Q86VZ1	P2RY8_HUMAN	P	44	ENSP00000370697:S44P	ENSP00000370697:S44P	S	-	1	0	P2RY8	1545322	1.000000	0.71417	0.059000	0.19551	0.016000	0.09150	5.199000	0.65152	0.528000	0.28580	0.230000	0.17803	TCT	.	.		0.667	P2RY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055602.1	NM_178129	
ARSD	414	hgsc.bcm.edu	37	X	2825611	2825611	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chrX:2825611A>G	ENST00000381154.1	-	10	1558	c.1483T>C	c.(1483-1485)Tgc>Cgc	p.C495R	ARSD-AS1_ENST00000414053.1_RNA	NM_001669.3	NP_001660.2	P51689	ARSD_HUMAN	arylsulfatase D	495					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			large_intestine(3)|lung(3)	6		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CGGCCGTAGCAGGCCCCCGCT	0.647																																					p.C495R		Atlas-SNP	.											.	ARSD	47	.	0			c.T1483C						.						13.0	14.0	14.0					X																	2825611		2180	4257	6437	SO:0001583	missense	414	exon10			CGTAGCAGGCCCC	X83572	CCDS35196.1	Xp22.3	2013-02-14			ENSG00000006756	ENSG00000006756		"""Arylsulfatase family"""	717	protein-coding gene	gene with protein product		300002				7720070	Standard	NM_001669		Approved		uc004cqy.3	P51689	OTTHUMG00000021077	ENST00000381154.1:c.1483T>C	chrX.hg19:g.2825611A>G	ENSP00000370546:p.Cys495Arg	73.0	0.0		99.0	5.0	NM_001669	Q9UHJ8	Missense_Mutation	SNP	ENST00000381154.1	hg19	CCDS35196.1	.	.	.	.	.	.	.	.	.	.	a	12.82	2.052932	0.36181	.	.	ENSG00000006756	ENST00000381154;ENST00000458014	D;D	0.91407	-2.84;-2.84	3.03	3.03	0.35002	Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	U	0.000000	D	0.96188	0.8757	H	0.95224	3.64	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96008	0.8999	10	0.87932	D	0	.	10.7922	0.46440	1.0:0.0:0.0:0.0	.	495	P51689	ARSD_HUMAN	R	495;97	ENSP00000370546:C495R;ENSP00000409180:C97R	ENSP00000370546:C495R	C	-	1	0	ARSD	2835611	1.000000	0.71417	0.153000	0.22517	0.058000	0.15608	7.550000	0.82173	0.951000	0.37770	0.424000	0.28305	TGC	.	.		0.647	ARSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055636.1		
AMELX	265	hgsc.bcm.edu	37	X	11316394	11316394	+	Silent	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chrX:11316394A>G	ENST00000380714.3	+	4	209	c.141A>G	c.(139-141)ccA>ccG	p.P47P	ARHGAP6_ENST00000380732.3_Intron|ARHGAP6_ENST00000380736.1_Intron|AMELX_ENST00000380712.3_Silent_p.P61P|ARHGAP6_ENST00000337414.4_Intron|AMELX_ENST00000348912.4_Silent_p.P31P|ARHGAP6_ENST00000380718.1_Intron|ARHGAP6_ENST00000413512.3_Intron	NM_001142.2	NP_001133.1	Q99217	AMELX_HUMAN	amelogenin, X-linked	47					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|chondrocyte differentiation (GO:0002062)|enamel mineralization (GO:0070166)|epithelial to mesenchymal transition (GO:0001837)|ion homeostasis (GO:0050801)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of tooth mineralization (GO:0070172)|signal transduction (GO:0007165)|tooth mineralization (GO:0034505)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	growth factor activity (GO:0008083)|hydroxyapatite binding (GO:0046848)|identical protein binding (GO:0042802)|structural constituent of tooth enamel (GO:0030345)			endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	15						GCATAAGGCCACCGGTATGTA	0.348																																					p.P61P		Atlas-SNP	.											.	AMELX	31	.	0			c.A183G						.						191.0	191.0	191.0					X																	11316394		2203	4300	6503	SO:0001819	synonymous_variant	265	exon5			AAGGCCACCGGTA		CCDS14144.1, CCDS14145.1, CCDS14146.1	Xp22.31-p22.1	2010-04-20	2010-04-20		ENSG00000125363	ENSG00000125363			461	protein-coding gene	gene with protein product	"""amelogenesis imperfecta 1"""	300391	"""amelogenin (X chromosome, amelogenesis imperfecta 1)"""	AMG, AIH1		1734713	Standard	NM_182680		Approved		uc004cus.3	Q99217	OTTHUMG00000021130	ENST00000380714.3:c.141A>G	chrX.hg19:g.11316394A>G		103.0	0.0		77.0	4.0	NM_182680	Q96NW6|Q9UCA7	Silent	SNP	ENST00000380714.3	hg19	CCDS14144.1																																																																																			.	.		0.348	AMELX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055746.1	NM_001142	
PCYT1B	9468	hgsc.bcm.edu	37	X	24605380	24605380	+	Silent	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chrX:24605380A>G	ENST00000379144.2	-	5	673	c.543T>C	c.(541-543)gtT>gtC	p.V181V	PCYT1B_ENST00000356768.4_Silent_p.V181V|PCYT1B_ENST00000379145.1_Silent_p.V163V	NM_004845.4	NP_004836.2	Q9Y5K3	PCY1B_HUMAN	phosphate cytidylyltransferase 1, choline, beta	181					CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|ovarian follicle development (GO:0001541)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)	choline-phosphate cytidylyltransferase activity (GO:0004105)			breast(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	17					Choline(DB00122)	TGTGCTTGTAAACATCATCAG	0.473																																					p.V181V		Atlas-SNP	.											.	PCYT1B	88	.	0			c.T543C						.						161.0	109.0	127.0					X																	24605380		2203	4300	6503	SO:0001819	synonymous_variant	9468	exon5			CTTGTAAACATCA	AF052510	CCDS14213.1, CCDS55391.1, CCDS55392.1	Xp22	2008-02-05	2005-09-05		ENSG00000102230	ENSG00000102230	2.7.7.15		8755	protein-coding gene	gene with protein product		604926	"""phosphate cytidylyltransferase 1, choline, beta isoform"""			9593753	Standard	NM_004845		Approved	CCT-beta, CTB	uc004dbi.3	Q9Y5K3	OTTHUMG00000021270	ENST00000379144.2:c.543T>C	chrX.hg19:g.24605380A>G		101.0	0.0		90.0	4.0	NM_004845	A8IX00|B2RCX8|B4DK10|E9PD84|O60621|Q86XC9	Silent	SNP	ENST00000379144.2	hg19	CCDS14213.1																																																																																			.	.		0.473	PCYT1B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056103.1	NM_004845	
DMD	1756	hgsc.bcm.edu	37	X	32509552	32509552	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chrX:32509552T>C	ENST00000357033.4	-	20	2670	c.2464A>G	c.(2464-2466)Aga>Gga	p.R822G	DMD_ENST00000378677.2_Missense_Mutation_p.R818G	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	822					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CAGTTAAGTCTCTCACTTAGC	0.403																																					p.R822G		Atlas-SNP	.											.	DMD	2127	.	0			c.A2464G						.						104.0	81.0	89.0					X																	32509552		2202	4300	6502	SO:0001583	missense	1756	exon20			TAAGTCTCTCACT	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.2464A>G	chrX.hg19:g.32509552T>C	ENSP00000354923:p.Arg822Gly	89.0	0.0		84.0	4.0	NM_004006	E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	hg19	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	T	18.75	3.691215	0.68271	.	.	ENSG00000198947	ENST00000534884;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T	0.61392	0.11;0.11	4.84	4.84	0.62591	.	0.000000	0.40554	U	0.001063	T	0.71702	0.3371	M	0.68317	2.08	0.80722	D	1	D;D;D	0.62365	0.989;0.984;0.991	D;P;D	0.76071	0.978;0.867;0.987	T	0.69525	-0.5122	10	0.25751	T	0.34	.	13.8307	0.63380	0.0:0.0:0.0:1.0	.	814;822;818	P11532-4;P11532;E9PDN5	.;DMD_HUMAN;.	G	814;818;822;822;699	ENSP00000367948:R818G;ENSP00000354923:R822G	ENSP00000354923:R822G	R	-	1	2	DMD	32419473	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.789000	0.69029	1.710000	0.51325	0.350000	0.21858	AGA	.	.		0.403	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006	
USP11	8237	hgsc.bcm.edu	37	X	47098823	47098823	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chrX:47098823G>A	ENST00000218348.3	+	3	489	c.489G>A	c.(487-489)tgG>tgA	p.W163*	USP11_ENST00000377107.2_Nonsense_Mutation_p.W120*	NM_004651.3	NP_004642.2	P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	163	DUSP. {ECO:0000255|PROSITE- ProRule:PRU00613}.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						CAGCTGCTTGGCATTACCTGG	0.582																																					p.W163X		Atlas-SNP	.											.	USP11	93	.	0			c.G489A						.						61.0	50.0	54.0					X																	47098823		2203	4300	6503	SO:0001587	stop_gained	8237	exon3			TGCTTGGCATTAC	U44839	CCDS14277.1	Xp11.23	2008-02-05	2005-08-08		ENSG00000102226	ENSG00000102226		"""Ubiquitin-specific peptidases"""	12609	protein-coding gene	gene with protein product		300050	"""ubiquitin specific protease 11"""			12838346	Standard	XM_005272674		Approved	UHX1	uc004dhp.3	P51784	OTTHUMG00000021437	ENST00000218348.3:c.489G>A	chrX.hg19:g.47098823G>A	ENSP00000218348:p.Trp163*	61.0	0.0		90.0	4.0	NM_004651	B2RTX1|Q8IUG6|Q9BWE1	Nonsense_Mutation	SNP	ENST00000218348.3	hg19	CCDS14277.1	.	.	.	.	.	.	.	.	.	.	g	36	5.765725	0.96906	.	.	ENSG00000102226	ENST00000377107;ENST00000218348	.	.	.	5.84	4.97	0.65823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.812	12.8433	0.57815	0.0815:0.0:0.9185:0.0	.	.	.	.	X	120;163	.	ENSP00000218348:W163X	W	+	3	0	USP11	46983767	1.000000	0.71417	0.994000	0.49952	0.983000	0.72400	7.048000	0.76606	1.216000	0.43427	0.597000	0.82753	TGG	.	.		0.582	USP11-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_004651	
ARAF	369	hgsc.bcm.edu	37	X	47426698	47426698	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chrX:47426698A>G	ENST00000377045.4	+	10	1137	c.943A>G	c.(943-945)Agg>Ggg	p.R315G	ARAF_ENST00000290277.6_3'UTR	NM_001256196.1|NM_001654.4	NP_001243125.1|NP_001645.1	P10398	ARAF_HUMAN	A-Raf proto-oncogene, serine/threonine kinase	315	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular protein modification process (GO:0006464)|negative regulation of apoptotic process (GO:0043066)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|regulation of TOR signaling (GO:0032006)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein activity (GO:0005057)			biliary_tract(1)|endometrium(4)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	29					Adenosine triphosphate(DB00171)	GCTGCTGAAGAGGATCGGGAC	0.622																																					p.R318G		Atlas-SNP	.											.	ARAF	67	.	0			c.A952G						.						96.0	66.0	76.0					X																	47426698		2203	4300	6503	SO:0001583	missense	369	exon10			CTGAAGAGGATCG	X04790	CCDS35232.1, CCDS59164.1, CCDS75970.1	Xp11.3-p11.23	2014-06-26	2014-06-26	2005-01-19	ENSG00000078061	ENSG00000078061			646	protein-coding gene	gene with protein product		311010	"""v-raf murine sarcoma 3611 viral oncogene homolog 1"""	ARAF1			Standard	NM_001654		Approved		uc004dic.2	P10398	OTTHUMG00000021446	ENST00000377045.4:c.943A>G	chrX.hg19:g.47426698A>G	ENSP00000366244:p.Arg315Gly	116.0	0.0		125.0	5.0	NM_001256196	P07557|Q5H9B2|Q5H9B3	Missense_Mutation	SNP	ENST00000377045.4	hg19	CCDS35232.1	.	.	.	.	.	.	.	.	.	.	A	19.08	3.758836	0.69763	.	.	ENSG00000078061	ENST00000377045	T	0.62639	0.01	5.71	3.12	0.35913	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.71651	0.3365	L	0.58510	1.815	0.80722	D	1	D;B	0.89917	1.0;0.359	D;B	0.71870	0.975;0.216	T	0.74103	-0.3773	10	0.87932	D	0	.	9.8988	0.41335	0.6478:0.3522:0.0:0.0	.	315;181	P10398;B4DV85	ARAF_HUMAN;.	G	315	ENSP00000366244:R315G	ENSP00000366244:R315G	R	+	1	2	ARAF	47311642	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	1.626000	0.37039	1.905000	0.55150	0.345000	0.21793	AGG	.	.		0.622	ARAF-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056418.1		
SYN1	6853	hgsc.bcm.edu	37	X	47434132	47434132	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chrX:47434132G>A	ENST00000295987.7	-	11	1472	c.1348C>T	c.(1348-1350)Cag>Tag	p.Q450*	SYN1_ENST00000340666.4_Nonsense_Mutation_p.Q450*	NM_006950.3	NP_008881.2	P17600	SYN1_HUMAN	synapsin I	450	D; Pro-rich linker.				neurotransmitter secretion (GO:0007269)|regulation of neurotransmitter secretion (GO:0046928)|regulation of synaptic vesicle exocytosis (GO:2000300)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)|protein kinase binding (GO:0019901)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(6)|lung(6)|ovary(1)	21						GCGGGCTGCTGGGAGGTCTGG	0.672																																					p.Q450X		Atlas-SNP	.											.	SYN1	84	.	0			c.C1348T						.						5.0	7.0	6.0					X																	47434132		2050	4054	6104	SO:0001587	stop_gained	6853	exon11			GCTGCTGGGAGGT		CCDS14280.1, CCDS35233.1	Xp11.2	2012-10-02			ENSG00000008056	ENSG00000008056			11494	protein-coding gene	gene with protein product		313440					Standard	NM_133499		Approved		uc004die.3	P17600	OTTHUMG00000021454	ENST00000295987.7:c.1348C>T	chrX.hg19:g.47434132G>A	ENSP00000295987:p.Gln450*	71.0	0.0		64.0	4.0	NM_006950	B1AJQ1|O75825|Q5H9A9	Nonsense_Mutation	SNP	ENST00000295987.7	hg19	CCDS14280.1	.	.	.	.	.	.	.	.	.	.	G	37	6.107674	0.97291	.	.	ENSG00000008056	ENST00000295987;ENST00000340666	.	.	.	4.64	4.64	0.57946	.	0.374286	0.20871	N	0.084179	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	-8.5999	10.6076	0.45402	0.0:0.1917:0.8083:0.0	.	.	.	.	X	450	.	ENSP00000295987:Q450X	Q	-	1	0	SYN1	47319076	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	1.869000	0.39519	2.257000	0.74773	0.529000	0.55759	CAG	.	.		0.672	SYN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056445.1	NM_006950	
GATA1	2623	hgsc.bcm.edu	37	X	48650745	48650745	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chrX:48650745T>C	ENST00000376670.3	+	4	725	c.614T>C	c.(613-615)gTg>gCg	p.V205A	GATA1_ENST00000376665.3_Missense_Mutation_p.V205A	NM_002049.3	NP_002040.1	P15976	GATA1_HUMAN	GATA binding protein 1 (globin transcription factor 1)	205	Required for interaction with ZFPM1.		V -> M (in XDAT; severe impairment of ZFPM1 binding and erythroid differentiation in vitro). {ECO:0000269|PubMed:10700180}.		basophil differentiation (GO:0030221)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cellular response to thyroid hormone stimulus (GO:0097067)|dendritic cell differentiation (GO:0097028)|embryonic hemopoiesis (GO:0035162)|eosinophil differentiation (GO:0030222)|eosinophil fate commitment (GO:0035854)|erythrocyte development (GO:0048821)|erythrocyte differentiation (GO:0030218)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|megakaryocyte differentiation (GO:0030219)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of definitive erythrocyte differentiation (GO:0010724)|regulation of glycoprotein biosynthetic process (GO:0010559)|transcription from RNA polymerase II promoter (GO:0006366)|transcriptional activation by promoter-enhancer looping (GO:0071733)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	C2H2 zinc finger domain binding (GO:0070742)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|enhancer sequence-specific DNA binding (GO:0001158)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(259)|large_intestine(8)|lung(9)|prostate(1)	283						AGGGAGTGTGTGAACTGCGGA	0.597			"""Mis, F"""		megakaryoblastic leukemia of Downs Syndrome																																p.V205A	Pancreas(9;429 505 11287 29617)	Atlas-SNP	.		Dom	yes		X	Xp11.23	2623	GATA binding protein 1 (globin transcription factor 1)		L	.	GATA1	342	.	0			c.T614C						.						55.0	46.0	49.0					X																	48650745		2203	4299	6502	SO:0001583	missense	2623	exon4			AGTGTGTGAACTG	X17254	CCDS14305.1	Xp11.23	2014-09-17	2001-11-28		ENSG00000102145	ENSG00000102145		"""GATA zinc finger domain containing"""	4170	protein-coding gene	gene with protein product	"""nuclear factor, erythroid 1"""	305371	"""GATA-binding protein 1 (globin transcription factor 1)"""	GF1		1999341	Standard	NM_002049		Approved	ERYF1, NFE1, GATA-1, NF-E1	uc004dkq.4	P15976	OTTHUMG00000021504	ENST00000376670.3:c.614T>C	chrX.hg19:g.48650745T>C	ENSP00000365858:p.Val205Ala	113.0	0.0		113.0	5.0	NM_002049	Q96GB8	Missense_Mutation	SNP	ENST00000376670.3	hg19	CCDS14305.1	.	.	.	.	.	.	.	.	.	.	T	19.89	3.911362	0.72983	.	.	ENSG00000102145	ENST00000376670;ENST00000376665	D;D	0.99445	-5.91;-5.91	4.8	3.6	0.41247	Zinc finger, NHR/GATA-type (1);Zinc finger, GATA-type (5);	0.135916	0.48767	D	0.000178	D	0.97711	0.9249	N	0.05012	-0.13	0.54753	D	0.999987	B	0.33379	0.41	P	0.47528	0.549	D	0.95772	0.8809	10	0.87932	D	0	-2.6325	9.0396	0.36309	0.0:0.0:0.1839:0.8161	.	205	P15976	GATA1_HUMAN	A	205	ENSP00000365858:V205A;ENSP00000365853:V205A	ENSP00000365853:V205A	V	+	2	0	GATA1	48535689	1.000000	0.71417	0.977000	0.42913	0.911000	0.54048	6.101000	0.71479	0.504000	0.28082	0.400000	0.26472	GTG	.	.		0.597	GATA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056517.1	NM_002049	
TFE3	7030	hgsc.bcm.edu	37	X	48896668	48896668	+	Silent	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chrX:48896668A>G	ENST00000315869.7	-	3	757	c.498T>C	c.(496-498)cgT>cgC	p.R166R	TFE3_ENST00000487451.1_5'UTR	NM_006521.4	NP_006512.2	P19532	TFE3_HUMAN	transcription factor binding to IGHM enhancer 3	166					humoral immune response (GO:0006959)|positive regulation of cell adhesion (GO:0045785)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of osteoclast differentiation (GO:0045670)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)		NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	central_nervous_system(1)	1						CAGGGGGTGGACGGCTCAATG	0.657			T	"""SFPQ, ASPSCR1, PRCC, NONO, CLTC"""	"""papillary renal, alveolar soft part sarcoma, renal"""																																p.R166R		Atlas-SNP	.		Dom	yes		X	Xp11.22	7030	transcription factor binding to IGHM enhancer 3		E	.	TFE3	93	.	0			c.T498C						.						27.0	29.0	28.0					X																	48896668		2201	4300	6501	SO:0001819	synonymous_variant	7030	exon3			GGGTGGACGGCTC	X96717	CCDS14315.3	Xp11.22	2013-05-21			ENSG00000068323	ENSG00000068323		"""Basic helix-loop-helix proteins"""	11752	protein-coding gene	gene with protein product	transcription factor E family, member A	314310				1672758, 1685140	Standard	NM_006521		Approved	TFEA, bHLHe33	uc004dmb.3	P19532	OTTHUMG00000022690	ENST00000315869.7:c.498T>C	chrX.hg19:g.48896668A>G		181.0	0.0		147.0	6.0	NM_006521	A8MZL6|Q5JU74|Q92757|Q92758|Q99964	Silent	SNP	ENST00000315869.7	hg19	CCDS14315.3																																																																																			.	.		0.657	TFE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058872.2	NM_006521	
CACNA1F	778	hgsc.bcm.edu	37	X	49061725	49061725	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chrX:49061725T>C	ENST00000376265.2	-	48	5867	c.5806A>G	c.(5806-5808)Atg>Gtg	p.M1936V	SYP-AS1_ENST00000433499.1_RNA|CACNA1F_ENST00000323022.5_Missense_Mutation_p.M1925V|CACNA1F_ENST00000376251.1_Missense_Mutation_p.M1871V|AF196779.1_ENST00000583131.1_RNA	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1936					axonogenesis (GO:0007409)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|dendrite morphogenesis (GO:0048813)|detection of light stimulus involved in visual perception (GO:0050908)|membrane depolarization during action potential (GO:0086010)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|photoreceptor outer segment (GO:0001750)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	GCATTGTCCATCTCATCCAGC	0.587																																					p.M1936V		Atlas-SNP	.											.	CACNA1F	218	.	0			c.A5806G						.						96.0	56.0	70.0					X																	49061725		2203	4300	6503	SO:0001583	missense	778	exon48			TGTCCATCTCATC	AA019975	CCDS35253.1, CCDS59166.1, CCDS59167.1	Xp11.23	2013-01-23	2007-02-16		ENSG00000102001	ENSG00000102001		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1393	protein-coding gene	gene with protein product		300110	"""Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)"""	CSNB2, AIED		9344658, 9662400, 16382099, 12111638, 17525176	Standard	NM_005183		Approved	Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2	uc010nip.3	O60840	OTTHUMG00000022703	ENST00000376265.2:c.5806A>G	chrX.hg19:g.49061725T>C	ENSP00000365441:p.Met1936Val	90.0	0.0		88.0	5.0	NM_005183	A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Missense_Mutation	SNP	ENST00000376265.2	hg19	CCDS35253.1	.	.	.	.	.	.	.	.	.	.	T	15.22	2.768170	0.49680	.	.	ENSG00000102001	ENST00000376251;ENST00000323022;ENST00000376265	T;T;T	0.68025	-0.3;-0.3;-0.3	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.79269	0.4417	M	0.76170	2.325	0.50171	D	0.999852	D;D	0.58268	0.982;0.969	D;D	0.68943	0.961;0.914	T	0.78615	-0.2135	10	0.34782	T	0.22	.	13.0076	0.58715	0.0:0.0:0.0:1.0	.	1925;1936	F5CIQ9;O60840	.;CAC1F_HUMAN	V	1871;1925;1936	ENSP00000365427:M1871V;ENSP00000321618:M1925V;ENSP00000365441:M1936V	ENSP00000321618:M1925V	M	-	1	0	CACNA1F	48948669	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	4.837000	0.62796	1.780000	0.52325	0.430000	0.28490	ATG	.	.		0.587	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358157.1	NM_005183	
TSPYL2	64061	hgsc.bcm.edu	37	X	53114011	53114011	+	Silent	SNP	C	C	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chrX:53114011C>T	ENST00000375442.4	+	3	1092	c.960C>T	c.(958-960)aaC>aaT	p.N320N		NM_022117.3	NP_071400.1	Q9H2G4	TSYL2_HUMAN	TSPY-like 2	320					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cell cycle (GO:0007049)|cellular protein metabolic process (GO:0044267)|chromatin modification (GO:0016568)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|negative regulation of DNA replication (GO:0008156)|nucleosome assembly (GO:0006334)|regulation of protein kinase activity (GO:0045859)|regulation of signal transduction (GO:0009966)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	rDNA binding (GO:0000182)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	19						ACTTCACAAACATGGTGATTG	0.498																																					p.N320N		Atlas-SNP	.											.	TSPYL2	53	.	0			c.C960T						.						122.0	97.0	106.0					X																	53114011		2203	4300	6503	SO:0001819	synonymous_variant	64061	exon3			CACAAACATGGTG	AF273046	CCDS14350.1	Xp11	2014-06-09			ENSG00000184205	ENSG00000184205			24358	protein-coding gene	gene with protein product		300564				11318608, 11395479	Standard	NM_022117		Approved	SE20-4, HRIHFB2216, CTCL, DENTT, CDA1, CINAP, TSPX	uc004drw.3	Q9H2G4	OTTHUMG00000021597	ENST00000375442.4:c.960C>T	chrX.hg19:g.53114011C>T		128.0	0.0		91.0	4.0	NM_022117	O94799|Q96DG7|Q9BZW6	Silent	SNP	ENST00000375442.4	hg19	CCDS14350.1																																																																																			.	.		0.498	TSPYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056718.1	NM_022117	
ARHGEF9	23229	hgsc.bcm.edu	37	X	62917040	62917040	+	Missense_Mutation	SNP	G	G	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chrX:62917040G>T	ENST00000253401.6	-	4	1326	c.526C>A	c.(526-528)Cac>Aac	p.H176N	ARHGEF9_ENST00000437457.2_Missense_Mutation_p.H123N|ARHGEF9_ENST00000495564.1_5'UTR|ARHGEF9_ENST00000374872.1_Missense_Mutation_p.H155N|ARHGEF9_ENST00000374870.4_Missense_Mutation_p.H74N|ARHGEF9_ENST00000374878.1_Missense_Mutation_p.H174N	NM_015185.2	NP_056000.1	O43307	ARHG9_HUMAN	Cdc42 guanine nucleotide exchange factor (GEF) 9	176	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|ion transmembrane transport (GO:0034220)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						TCGCTGAGGTGGGGGTCATCA	0.453																																					p.H176N		Atlas-SNP	.											.	ARHGEF9	117	.	0			c.C526A						.						131.0	94.0	106.0					X																	62917040		2203	4300	6503	SO:0001583	missense	23229	exon4			TGAGGTGGGGGTC	AB007884	CCDS35315.1, CCDS55429.1, CCDS55430.1	Xq11.1	2013-01-10			ENSG00000131089	ENSG00000131089		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	14561	protein-coding gene	gene with protein product	"""collybistin"""	300429				10559246, 9455477	Standard	NM_015185		Approved	KIAA0424, PEM-2	uc011mot.2	O43307	OTTHUMG00000021700	ENST00000253401.6:c.526C>A	chrX.hg19:g.62917040G>T	ENSP00000253401:p.His176Asn	117.0	0.0		129.0	6.0	NM_015185	A8K1S8|B4DHC7|F8W7P8|Q5JSL6	Missense_Mutation	SNP	ENST00000253401.6	hg19	CCDS35315.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.718849	0.89205	.	.	ENSG00000131089	ENST00000253401;ENST00000374878;ENST00000437457;ENST00000374870;ENST00000374872	T;T;T;T;T	0.62364	0.03;0.03;0.03;0.03;0.03	5.65	5.65	0.86999	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	T	0.70692	0.3253	L	0.48362	1.52	0.80722	D	1	D;P;D;D	0.55172	0.97;0.916;0.97;0.97	P;P;P;P	0.58331	0.837;0.837;0.837;0.837	T	0.69702	-0.5074	10	0.41790	T	0.15	.	17.1464	0.86767	0.0:0.0:1.0:0.0	.	123;174;176;176	B4DHC7;B1AMR4;O43307;A8K1S8	.;.;ARHG9_HUMAN;.	N	176;174;123;74;155	ENSP00000253401:H176N;ENSP00000364012:H174N;ENSP00000399994:H123N;ENSP00000364004:H74N;ENSP00000364006:H155N	ENSP00000253401:H176N	H	-	1	0	ARHGEF9	62833765	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	9.229000	0.95273	2.364000	0.80123	0.513000	0.50165	CAC	.	.		0.453	ARHGEF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056937.1		
STARD8	9754	hgsc.bcm.edu	37	X	67938076	67938076	+	Silent	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chrX:67938076T>C	ENST00000252336.6	+	5	1452	c.1080T>C	c.(1078-1080)gcT>gcC	p.A360A	STARD8_ENST00000374597.3_Silent_p.A360A|STARD8_ENST00000374599.3_Silent_p.A440A	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	360					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)			NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						AAGCTGAGGCTCTCAGCCAGA	0.617																																					p.A440A		Atlas-SNP	.											.	STARD8	282	.	0			c.T1320C						.						50.0	46.0	48.0					X																	67938076		2203	4300	6503	SO:0001819	synonymous_variant	9754	exon6			TGAGGCTCTCAGC	D80011	CCDS14390.1, CCDS48134.1	Xq13.1	2011-09-13	2007-08-16		ENSG00000130052	ENSG00000130052		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	19161	protein-coding gene	gene with protein product		300689	"""START domain containing 8"""			8724849	Standard	NM_001142504		Approved	KIAA0189, ARHGAP38	uc004dxb.3	Q92502	OTTHUMG00000021748	ENST00000252336.6:c.1080T>C	chrX.hg19:g.67938076T>C		143.0	0.0		118.0	5.0	NM_001142503	A8K6T2|D3DVT9|Q5JST0|Q68DG7	Silent	SNP	ENST00000252336.6	hg19	CCDS14390.1																																																																																			.	.		0.617	STARD8-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057026.2	NM_014725	
EDA	1896	hgsc.bcm.edu	37	X	69247861	69247861	+	Silent	SNP	A	A	G	rs397516670		TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chrX:69247861A>G	ENST00000374552.4	+	4	923	c.681A>G	c.(679-681)ggA>ggG	p.G227G	EDA_ENST00000374553.2_Silent_p.G227G|EDA_ENST00000524573.1_Silent_p.G227G	NM_001399.4	NP_001390.1	Q92838	EDA_HUMAN	ectodysplasin A	227	Collagen-like.				cell differentiation (GO:0030154)|cell-matrix adhesion (GO:0007160)|ectoderm development (GO:0007398)|gene expression (GO:0010467)|hair follicle placode formation (GO:0060789)|immune response (GO:0006955)|odontogenesis of dentin-containing tooth (GO:0042475)|pigmentation (GO:0043473)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|salivary gland cavitation (GO:0060662)|signal transduction (GO:0007165)|trachea gland development (GO:0061153)	apical part of cell (GO:0045177)|collagen trimer (GO:0005581)|cytoskeleton (GO:0005856)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|urinary_tract(1)	14						GTCCTCAAGGACCCCCTGGCC	0.587																																					p.G227G		Atlas-SNP	.											.	EDA	61	.	0			c.A681G						.						21.0	19.0	20.0					X																	69247861		2202	4298	6500	SO:0001819	synonymous_variant	1896	exon4			TCAAGGACCCCCT	U59227	CCDS14394.1, CCDS35318.1, CCDS35319.1, CCDS43966.1, CCDS35318.2, CCDS35319.2, CCDS55436.1	Xq12-q13.1	2013-05-22	2004-08-09	2004-08-12	ENSG00000158813	ENSG00000158813		"""Tumor necrosis factor (ligand) superfamily"""	3157	protein-coding gene	gene with protein product		300451	"""ectodermal dysplasia 1, anhidrotic"", ""oligodontia 1"""	ED1, EDA2, ODT1		8696334, 18657636, 16583127	Standard	NM_001005612		Approved	EDA1, XLHED, HED, XHED, ED1-A1, ED1-A2, EDA-A1, EDA-A2	uc004dxs.3	Q92838	OTTHUMG00000021764	ENST00000374552.4:c.681A>G	chrX.hg19:g.69247861A>G		66.0	0.0		82.0	4.0	NM_001399	A0AUZ2|A2A337|B7ZLU2|B7ZLU4|O75910|Q5JS00|Q5JUM7|Q9UP77|Q9Y6L0|Q9Y6L1|Q9Y6L2|Q9Y6L3|Q9Y6L4	Silent	SNP	ENST00000374552.4	hg19	CCDS14394.1																																																																																			.	.		0.587	EDA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057048.2	NM_001399	
ERCC6L	54821	hgsc.bcm.edu	37	X	71426582	71426582	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chrX:71426582T>C	ENST00000334463.3	-	2	2170	c.2035A>G	c.(2035-2037)Aca>Gca	p.T679A	PIN4_ENST00000423432.2_Intron|ERCC6L_ENST00000373657.1_Missense_Mutation_p.T556A	NM_017669.2	NP_060139.2	Q2NKX8	ERC6L_HUMAN	excision repair cross-complementation group 6-like	679					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					AGATCACATGTGTACATCAAA	0.403																																					p.T679A		Atlas-SNP	.											.	ERCC6L	98	.	0			c.A2035G						.						90.0	84.0	86.0					X																	71426582		2203	4300	6503	SO:0001583	missense	54821	exon2			CACATGTGTACAT	AK000112	CCDS35329.1	Xq13.1	2014-03-07	2014-03-07		ENSG00000186871	ENSG00000186871			20794	protein-coding gene	gene with protein product	"""PLK1-interacting checkpoint helicase"""	300687	"""excision repair cross-complementing rodent repair deficiency, complementation group 6-like"""			17218258	Standard	NM_017669		Approved	FLJ20105, PICH, RAD26L	uc004eaq.1	Q2NKX8	OTTHUMG00000021810	ENST00000334463.3:c.2035A>G	chrX.hg19:g.71426582T>C	ENSP00000334675:p.Thr679Ala	79.0	0.0		85.0	4.0	NM_017669	Q8NCI1|Q96H93|Q9NXQ8	Missense_Mutation	SNP	ENST00000334463.3	hg19	CCDS35329.1	.	.	.	.	.	.	.	.	.	.	T	7.848	0.723288	0.15439	.	.	ENSG00000186871	ENST00000373657;ENST00000334463	T;T	0.21932	1.98;1.98	5.24	4.05	0.47172	.	.	.	.	.	T	0.15565	0.0375	L	0.45698	1.435	0.34522	D	0.708222	P	0.36599	0.56	B	0.33121	0.158	T	0.22836	-1.0205	9	0.44086	T	0.13	-12.6927	3.9878	0.09524	0.1874:0.0987:0.0:0.7139	.	679	Q2NKX8	ERC6L_HUMAN	A	556;679	ENSP00000362761:T556A;ENSP00000334675:T679A	ENSP00000334675:T679A	T	-	1	0	ERCC6L	71343307	1.000000	0.71417	0.489000	0.27452	0.871000	0.50021	2.836000	0.48183	0.623000	0.30267	-0.400000	0.06385	ACA	.	.		0.403	ERCC6L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057174.2	NM_017669	
PHKA1	5255	hgsc.bcm.edu	37	X	71822975	71822975	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chrX:71822975G>A	ENST00000373542.4	-	26	3070	c.2911C>T	c.(2911-2913)Cga>Tga	p.R971*	PHKA1_ENST00000541944.1_Nonsense_Mutation_p.R912*|PHKA1_ENST00000339490.3_Nonsense_Mutation_p.R971*|PHKA1_ENST00000373539.3_Nonsense_Mutation_p.R971*|PHKA1_ENST00000373545.3_Nonsense_Mutation_p.R912*	NM_002637.3	NP_002628.2	P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	971					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)	p.R971*(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					TCACCGCTTCGTTCCACTCCA	0.423																																					p.R971X		Atlas-SNP	.											.	PHKA1	129	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C2911T						.						127.0	98.0	107.0					X																	71822975		2203	4300	6503	SO:0001587	stop_gained	5255	exon26			CGCTTCGTTCCAC		CCDS14421.1, CCDS48137.1, CCDS55453.1	Xq12-q13	2009-07-10			ENSG00000067177	ENSG00000067177	2.7.11.19		8925	protein-coding gene	gene with protein product		311870		PHKA			Standard	NM_002637		Approved		uc004eax.4	P46020	OTTHUMG00000022696	ENST00000373542.4:c.2911C>T	chrX.hg19:g.71822975G>A	ENSP00000362643:p.Arg971*	79.0	0.0		71.0	4.0	NM_002637	B7ZL05|B7ZL07|Q2M3D7	Nonsense_Mutation	SNP	ENST00000373542.4	hg19	CCDS14421.1	.	.	.	.	.	.	.	.	.	.	G	43	10.468460	0.99411	.	.	ENSG00000067177	ENST00000373545;ENST00000373542;ENST00000541944;ENST00000339490;ENST00000373539	.	.	.	5.64	2.62	0.31277	.	0.053778	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.0938	11.4523	0.50160	0.0:0.0:0.4858:0.5142	.	.	.	.	X	912;971;912;971;971	.	ENSP00000342469:R971X	R	-	1	2	PHKA1	71739700	1.000000	0.71417	1.000000	0.80357	0.779000	0.44077	1.545000	0.36169	1.138000	0.42230	-0.222000	0.12452	CGA	.	.		0.423	PHKA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058896.1		
ATP7A	538	hgsc.bcm.edu	37	X	77258577	77258577	+	Silent	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chrX:77258577T>C	ENST00000341514.6	+	6	1706	c.1551T>C	c.(1549-1551)taT>taC	p.Y517Y	ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000343533.5_Silent_p.Y517Y	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	517	HMA 5. {ECO:0000255|PROSITE- ProRule:PRU00280}.				blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cartilage development (GO:0051216)|catecholamine metabolic process (GO:0006584)|cellular copper ion homeostasis (GO:0006878)|central nervous system neuron development (GO:0021954)|cerebellar Purkinje cell differentiation (GO:0021702)|collagen fibril organization (GO:0030199)|copper ion export (GO:0060003)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|dendrite morphogenesis (GO:0048813)|detoxification of copper ion (GO:0010273)|dopamine metabolic process (GO:0042417)|elastic fiber assembly (GO:0048251)|elastin biosynthetic process (GO:0051542)|epinephrine metabolic process (GO:0042414)|extracellular matrix organization (GO:0030198)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|lung alveolus development (GO:0048286)|mitochondrion organization (GO:0007005)|negative regulation of metalloenzyme activity (GO:0048553)|negative regulation of neuron apoptotic process (GO:0043524)|neuron projection morphogenesis (GO:0048812)|norepinephrine biosynthetic process (GO:0042421)|norepinephrine metabolic process (GO:0042415)|peptidyl-lysine modification (GO:0018205)|pigmentation (GO:0043473)|positive regulation of catalytic activity (GO:0043085)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of oxidoreductase activity (GO:0051353)|pyramidal neuron development (GO:0021860)|regulation of gene expression (GO:0010468)|regulation of oxidative phosphorylation (GO:0002082)|release of cytochrome c from mitochondria (GO:0001836)|removal of superoxide radicals (GO:0019430)|response to iron(III) ion (GO:0010041)|response to zinc ion (GO:0010043)|serotonin metabolic process (GO:0042428)|skin development (GO:0043588)|T-helper cell differentiation (GO:0042093)|transmembrane transport (GO:0055085)|tryptophan metabolic process (GO:0006568)|tyrosine metabolic process (GO:0006570)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|trans-Golgi network (GO:0005802)|trans-Golgi network transport vesicle (GO:0030140)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|copper-dependent protein binding (GO:0032767)|copper-exporting ATPase activity (GO:0004008)|superoxide dismutase copper chaperone activity (GO:0016532)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53					Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	TAGGAATATATTCTATACTTG	0.343																																					p.Y517Y		Atlas-SNP	.											.	ATP7A	248	.	0			c.T1551C						.						111.0	104.0	106.0					X																	77258577		2203	4295	6498	SO:0001819	synonymous_variant	538	exon6			AATATATTCTATA	L06133	CCDS35339.1, CCDS75997.1	Xq21.1	2012-10-22	2008-07-31		ENSG00000165240	ENSG00000165240	3.6.3.4	"""ATPases / P-type"""	869	protein-coding gene	gene with protein product	"""copper pump 1"", ""copper-transporting ATPase 1"""	300011	"""Menkes syndrome"""	MNK		10079817	Standard	NM_000052		Approved		uc004ecx.4	Q04656	OTTHUMG00000021885	ENST00000341514.6:c.1551T>C	chrX.hg19:g.77258577T>C		113.0	0.0		82.0	4.0	NM_000052	B1AT72|O00227|O00745|Q9BYY8	Silent	SNP	ENST00000341514.6	hg19	CCDS35339.1																																																																																			.	.		0.343	ATP7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057306.1	NM_000052	
SRPX2	27286	hgsc.bcm.edu	37	X	99901349	99901349	+	Silent	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chrX:99901349T>C	ENST00000373004.3	+	2	458	c.30T>C	c.(28-30)gcT>gcC	p.A10A	SRPX2_ENST00000481988.1_3'UTR	NM_014467.2	NP_055282.1	O60687	SRPX2_HUMAN	sushi-repeat containing protein, X-linked 2	10					angiogenesis (GO:0001525)|cell motility (GO:0048870)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of synapse assembly (GO:0051965)|regulation of phosphorylation (GO:0042325)|single organismal cell-cell adhesion (GO:0016337)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|excitatory synapse (GO:0060076)|extracellular space (GO:0005615)|synaptic membrane (GO:0097060)	hepatocyte growth factor binding (GO:0036458)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)	19						AAAGAGGAGCTCTCTTTCTGC	0.463																																					p.A10A		Atlas-SNP	.											.	SRPX2	41	.	0			c.T30C						.						155.0	133.0	140.0					X																	99901349		2203	4300	6503	SO:0001819	synonymous_variant	27286	exon2			AGGAGCTCTCTTT	AF393649	CCDS14471.1	Xq21.33-q23	2011-01-25	2011-01-25		ENSG00000102359	ENSG00000102359			30668	protein-coding gene	gene with protein product		300642	"""sushi-repeat-containing protein, X-linked 2"""			9864177	Standard	NM_014467		Approved	SRPUL	uc004egb.3	O60687	OTTHUMG00000022003	ENST00000373004.3:c.30T>C	chrX.hg19:g.99901349T>C		49.0	0.0		71.0	4.0	NM_014467	B3KQT3|Q8WW85	Silent	SNP	ENST00000373004.3	hg19	CCDS14471.1																																																																																			.	.		0.463	SRPX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057486.1	NM_014467	
PLS3	5358	hgsc.bcm.edu	37	X	114883870	114883870	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chrX:114883870A>G	ENST00000420625.2	+	16	2016	c.1882A>G	c.(1882-1884)Aag>Gag	p.K628E	PLS3_ENST00000355899.3_Missense_Mutation_p.K628E|PLS3_ENST00000537301.1_Missense_Mutation_p.K615E|PLS3_ENST00000543070.1_Missense_Mutation_p.K222E|PLS3_ENST00000289290.3_Missense_Mutation_p.K592E|PLS3_ENST00000539310.1_Missense_Mutation_p.K583E	NM_001136025.3|NM_001172335.1|NM_001282338.1	NP_001129497.1|NP_001165806.1|NP_001269267.1	P13797	PLST_HUMAN	plastin 3	628					bone development (GO:0060348)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)	26						CAGGGGAATGAAGAGAGTGTA	0.458																																					p.K628E	Colon(160;1047 1864 8490 12969 29601)	Atlas-SNP	.											.	PLS3	60	.	0			c.A1882G						.						162.0	144.0	150.0					X																	114883870		2203	4300	6503	SO:0001583	missense	5358	exon16			GGAATGAAGAGAG	L05491	CCDS14568.1, CCDS65312.1	Xq23	2013-01-10	2010-02-10		ENSG00000102024	ENSG00000102024		"""EF-hand domain containing"""	9091	protein-coding gene	gene with protein product		300131	"""plastin 3 (T isoform)"""			8428952	Standard	NM_005032		Approved	T-plastin	uc004eqe.3	P13797	OTTHUMG00000022237	ENST00000420625.2:c.1882A>G	chrX.hg19:g.114883870A>G	ENSP00000398945:p.Lys628Glu	103.0	0.0		100.0	4.0	NM_005032	A8K579|B1AQ09|B4DGB4|B7Z6M1|Q86YI6	Missense_Mutation	SNP	ENST00000420625.2	hg19	CCDS14568.1	.	.	.	.	.	.	.	.	.	.	a	16.20	3.055431	0.55325	.	.	ENSG00000102024	ENST00000355899;ENST00000537301;ENST00000289290;ENST00000420625;ENST00000539310;ENST00000543070	T;D;D;T;D;D	0.87650	-0.51;-1.84;-2.05;-0.51;-2.04;-2.28	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.82263	0.4999	L	0.31526	0.94	0.80722	D	1	B;B;B	0.21753	0.06;0.002;0.002	B;B;B	0.29942	0.109;0.007;0.012	T	0.78074	-0.2346	10	0.39692	T	0.17	-19.7374	14.0035	0.64449	1.0:0.0:0.0:0.0	.	601;615;628	B4DPW9;B4DGB4;P13797	.;.;PLST_HUMAN	E	628;615;592;628;583;222	ENSP00000348163:K628E;ENSP00000445105:K615E;ENSP00000289290:K592E;ENSP00000398945:K628E;ENSP00000445339:K583E;ENSP00000439260:K222E	ENSP00000289290:K592E	K	+	1	0	PLS3	114790126	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.160000	0.94734	1.989000	0.58080	0.478000	0.44815	AAG	.	.		0.458	PLS3-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057976.2		
KLHL13	90293	hgsc.bcm.edu	37	X	117053532	117053532	+	Silent	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chrX:117053532T>C	ENST00000262820.3	-	4	1431	c.522A>G	c.(520-522)ctA>ctG	p.L174L	KLHL13_ENST00000371876.1_Silent_p.L123L|KLHL13_ENST00000539496.1_Silent_p.L177L|KLHL13_ENST00000541812.1_Silent_p.L158L|KLHL13_ENST00000371878.1_Silent_p.L123L|KLHL13_ENST00000469946.1_Silent_p.L123L|KLHL13_ENST00000540167.1_Silent_p.L158L|KLHL13_ENST00000545703.1_Silent_p.L132L|KLHL13_ENST00000371882.1_Silent_p.L123L	NM_033495.3	NP_277030.2	Q9P2N7	KLH13_HUMAN	kelch-like family member 13	174					cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						GCAGAATCTGTAGGAAACTGG	0.388																																					p.L177L		Atlas-SNP	.											.	KLHL13	87	.	0			c.A531G						.						76.0	85.0	82.0					X																	117053532		2203	4300	6503	SO:0001819	synonymous_variant	90293	exon5			AATCTGTAGGAAA	AB037730	CCDS14571.1, CCDS55479.1, CCDS55480.1, CCDS55481.1	Xq23-q24	2013-01-30	2013-01-30	2004-02-18	ENSG00000003096	ENSG00000003096		"""Kelch-like"", ""BTB/POZ domain containing"""	22931	protein-coding gene	gene with protein product		300655	"""BTB and kelch domain containing 2, KIAA1309"", ""kelch-like 13 (Drosophila)"""	BKLHD2, KIAA1309		10718198	Standard	NM_033495		Approved	FLJ10262	uc011mtp.2	Q9P2N7	OTTHUMG00000022252	ENST00000262820.3:c.522A>G	chrX.hg19:g.117053532T>C		345.0	0.0		94.0	6.0	NM_001168299	B3KV78|B3KWM7|B7Z3S9|B7Z5P2|B7Z802|D3DWH6|Q6P2E3|Q96QI7|Q9UDN9	Silent	SNP	ENST00000262820.3	hg19	CCDS14571.1																																																																																			.	.		0.388	KLHL13-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_033495	
THOC2	57187	hgsc.bcm.edu	37	X	122760485	122760485	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chrX:122760485T>C	ENST00000245838.8	-	24	2817	c.2786A>G	c.(2785-2787)gAg>gGg	p.E929G	THOC2_ENST00000355725.4_Missense_Mutation_p.E929G|THOC2_ENST00000491737.1_Missense_Mutation_p.E814G	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	929					mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|poly(A)+ mRNA export from nucleus (GO:0016973)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						AGTACAGCGCTCCTTCTCTTT	0.353																																					p.E929G		Atlas-SNP	.											.	THOC2	310	.	0			c.A2786G						.						116.0	98.0	104.0					X																	122760485		1813	4060	5873	SO:0001583	missense	57187	exon24			CAGCGCTCCTTCT	AF441770	CCDS43988.1	Xq25-q26.3	2013-02-11	2004-08-09		ENSG00000125676	ENSG00000125676		"""THO complex subunits"""	19073	protein-coding gene	gene with protein product		300395	"""chromosome X open reading frame 3"""	CXorf3		11979277	Standard	NM_001081550		Approved	THO2, dJ506G2.1	uc004etu.3	Q8NI27	OTTHUMG00000022334	ENST00000245838.8:c.2786A>G	chrX.hg19:g.122760485T>C	ENSP00000245838:p.Glu929Gly	90.0	0.0		98.0	4.0	NM_001081550	A6NM50|Q5JZ12|Q6IN92|Q9H8I6	Missense_Mutation	SNP	ENST00000245838.8	hg19	CCDS43988.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.318645	0.81469	.	.	ENSG00000125676	ENST00000245838;ENST00000355725;ENST00000491737	T;T;T	0.42900	0.96;0.96;0.96	5.83	5.83	0.93111	THO complex, subunitTHOC2, C-terminal (1);	0.000000	0.64402	D	0.000002	T	0.70988	0.3287	M	0.89601	3.045	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.77286	-0.2644	10	0.59425	D	0.04	-14.0537	15.1686	0.72850	0.0:0.0:0.0:1.0	.	929	Q8NI27	THOC2_HUMAN	G	929;929;814	ENSP00000245838:E929G;ENSP00000347959:E929G;ENSP00000419795:E814G	ENSP00000245838:E929G	E	-	2	0	THOC2	122588166	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	8.040000	0.89188	1.965000	0.57142	0.486000	0.48141	GAG	.	.		0.353	THOC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058153.3		
ZDHHC9	51114	hgsc.bcm.edu	37	X	128947657	128947657	+	Missense_Mutation	SNP	C	C	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chrX:128947657C>T	ENST00000357166.6	-	7	1061	c.670G>A	c.(670-672)Gga>Aga	p.G224R	ZDHHC9_ENST00000371064.3_Missense_Mutation_p.G224R	NM_016032.3	NP_057116.2	Q9Y397	ZDHC9_HUMAN	zinc finger, DHHC-type containing 9	224					peptidyl-L-cysteine S-palmitoylation (GO:0018230)|protein palmitoylation (GO:0018345)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)|palmitoyltransferase complex (GO:0002178)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|Ras palmitoyltransferase activity (GO:0043849)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	19						GGATATGTTCCAGGAGTTTCT	0.408																																					p.G224R		Atlas-SNP	.											.	ZDHHC9	41	.	0			c.G670A						.						93.0	85.0	87.0					X																	128947657		2203	4300	6503	SO:0001583	missense	51114	exon6			ATGTTCCAGGAGT	AF151847	CCDS35395.1	Xq26.1	2008-02-05			ENSG00000188706	ENSG00000188706		"""Zinc fingers, DHHC-type"""	18475	protein-coding gene	gene with protein product		300646	"""zinc finger, DHHC-type containing 10"", ""chromosome X open reading frame 11"""	ZDHHC10, CXorf11		10810093	Standard	NM_001008222		Approved	ZNF379, CGI-89, ZNF380	uc004euw.3	Q9Y397	OTTHUMG00000022375	ENST00000357166.6:c.670G>A	chrX.hg19:g.128947657C>T	ENSP00000349689:p.Gly224Arg	62.0	0.0		72.0	4.0	NM_001008222	B4F6G2|D3DTF9|Q59EK4|Q5JSW5|Q8WWS7|Q9BPY4|Q9NSP0|Q9NVL0|Q9NVR6	Missense_Mutation	SNP	ENST00000357166.6	hg19	CCDS35395.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.371114	0.82573	.	.	ENSG00000188706	ENST00000357166;ENST00000371064	T;T	0.23754	1.89;1.89	5.95	5.07	0.68467	.	0.267654	0.42682	D	0.000675	T	0.29126	0.0724	L	0.58583	1.82	0.53688	D	0.999972	B	0.10296	0.003	B	0.21151	0.033	T	0.02885	-1.1098	10	0.36615	T	0.2	.	15.1376	0.72579	0.1425:0.8575:0.0:0.0	.	224	Q9Y397	ZDHC9_HUMAN	R	224	ENSP00000349689:G224R;ENSP00000360103:G224R	ENSP00000349689:G224R	G	-	1	0	ZDHHC9	128775338	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.471000	0.80985	1.239000	0.43787	0.596000	0.82720	GGA	.	.		0.408	ZDHHC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058213.1	NM_016032	
IGSF1	3547	hgsc.bcm.edu	37	X	130408626	130408626	+	Missense_Mutation	SNP	T	T	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chrX:130408626T>A	ENST00000361420.3	-	18	3777	c.3698A>T	c.(3697-3699)tAc>tTc	p.Y1233F	IGSF1_ENST00000370910.1_Missense_Mutation_p.Y1224F|IGSF1_ENST00000467244.1_5'Flank|IGSF1_ENST00000370904.1_Missense_Mutation_p.Y1224F|IGSF1_ENST00000370903.3_Missense_Mutation_p.Y1238F			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	1233	Ig-like C2-type 12.				regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	coreceptor activity (GO:0015026)|inhibin binding (GO:0034711)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						GATATCAGGGTAGGCCTGGAG	0.527																																					p.Y1238F		Atlas-SNP	.											.	IGSF1	231	.	0			c.A3713T						.						169.0	157.0	161.0					X																	130408626		2203	4300	6503	SO:0001583	missense	3547	exon18			TCAGGGTAGGCCT	AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5948	protein-coding gene	gene with protein product		300137				9521868, 9729118	Standard	NM_001555		Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000361420.3:c.3698A>T	chrX.hg19:g.130408626T>A	ENSP00000355010:p.Tyr1233Phe	187.0	0.0		140.0	11.0	NM_001170961	B5MEG2|H9KV64|O15070|Q9NTC8	Missense_Mutation	SNP	ENST00000361420.3	hg19	CCDS14629.1	.	.	.	.	.	.	.	.	.	.	T	10.89	1.477748	0.26511	.	.	ENSG00000147255	ENST00000370910;ENST00000361420;ENST00000370904;ENST00000370903	T;T;T;T	0.00730	5.77;5.77;5.77;5.77	5.42	1.24	0.21308	Immunoglobulin-like fold (1);	1.128570	0.06730	N	0.776543	T	0.00608	0.0020	N	0.13235	0.315	0.09310	N	1	B;B;P	0.35821	0.273;0.288;0.523	B;B;B	0.36808	0.118;0.233;0.209	T	0.44667	-0.9313	10	0.12103	T	0.63	.	5.3586	0.16075	0.1726:0.0:0.3511:0.4763	.	1224;677;1233	Q8N6C5-2;C9JP68;Q8N6C5	.;.;IGSF1_HUMAN	F	1224;1233;1224;1238	ENSP00000359947:Y1224F;ENSP00000355010:Y1233F;ENSP00000359941:Y1224F;ENSP00000359940:Y1238F	ENSP00000355010:Y1233F	Y	-	2	0	IGSF1	130236307	0.766000	0.28496	0.988000	0.46212	0.992000	0.81027	0.734000	0.26101	0.251000	0.21505	0.481000	0.45027	TAC	.	.		0.527	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058288.1		
HS6ST2	90161	hgsc.bcm.edu	37	X	131763092	131763092	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chrX:131763092T>C	ENST00000370836.2	-	4	1392	c.977A>G	c.(976-978)gAc>gGc	p.D326G	HS6ST2_ENST00000521489.1_Missense_Mutation_p.D366G|HS6ST2_ENST00000406696.3_Missense_Mutation_p.D52G|HS6ST2_ENST00000370833.2_Missense_Mutation_p.D220G	NM_147175.3	NP_671704.3	Q96MM7	H6ST2_HUMAN	heparan sulfate 6-O-sulfotransferase 2	326	3'-phosphate binding. {ECO:0000255}.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	heparan sulfate 6-O-sulfotransferase activity (GO:0017095)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)	9	Acute lymphoblastic leukemia(192;0.000127)					GGACACTGGGTCTCGGAGGAT	0.522																																					p.D366G		Atlas-SNP	.											.	HS6ST2	89	.	0			c.A1097G						.						35.0	32.0	33.0					X																	131763092		2051	4196	6247	SO:0001583	missense	90161	exon6			ACTGGGTCTCGGA	AB067776	CCDS48169.1, CCDS48170.1	Xq26.2	2008-02-05			ENSG00000171004	ENSG00000171004		"""Sulfotransferases, membrane-bound"""	19133	protein-coding gene	gene with protein product		300545				10644753	Standard	NM_147175		Approved		uc011mvd.1	Q96MM7	OTTHUMG00000022430	ENST00000370836.2:c.977A>G	chrX.hg19:g.131763092T>C	ENSP00000359873:p.Asp326Gly	98.0	0.0		103.0	5.0	NM_001077188	B9WRT4|B9WRT5|E9PDY5|Q2TB13|Q4VC07|Q6PIC4|Q86SM9|Q8N3T4|Q8NBN4|Q96SJ4	Missense_Mutation	SNP	ENST00000370836.2	hg19	CCDS48169.1	.	.	.	.	.	.	.	.	.	.	t	18.78	3.695987	0.68386	.	.	ENSG00000171004	ENST00000370837;ENST00000370836;ENST00000521489;ENST00000406696;ENST00000370833;ENST00000319809	T;T;T;T;T	0.79247	0.27;0.27;0.27;-1.25;0.27	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	D	0.89037	0.6601	M	0.85197	2.74	0.51767	D	0.999936	D;D;D	0.89917	1.0;0.994;1.0	D;D;D	0.91635	0.999;0.955;0.999	D	0.90661	0.4590	10	0.87932	D	0	-4.2728	14.5424	0.68005	0.0:0.0:0.0:1.0	.	326;366;52	Q96MM7;E9PDY5;B7Z5H6	H6ST2_HUMAN;.;.	G	180;326;366;52;220;207	ENSP00000359874:D180G;ENSP00000359873:D326G;ENSP00000429473:D366G;ENSP00000384013:D52G;ENSP00000359870:D220G	ENSP00000324617:D207G	D	-	2	0	HS6ST2	131590773	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.037000	0.88933	2.034000	0.60081	0.483000	0.47432	GAC	.	.		0.522	HS6ST2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058332.3	NM_147174	
PLXNA3	55558	hgsc.bcm.edu	37	X	153699869	153699869	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chrX:153699869A>G	ENST00000369682.3	+	32	5583	c.5408A>G	c.(5407-5409)gAc>gGc	p.D1803G		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	1803					axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|hippocampus development (GO:0021766)|multicellular organismal development (GO:0007275)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|positive regulation of cytoskeleton organization (GO:0051495)|pyramidal neuron development (GO:0021860)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|trigeminal nerve structural organization (GO:0021637)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TCCATCAGCGACCAGGACATG	0.542																																					p.D1803G		Atlas-SNP	.											.	PLXNA3	156	.	0			c.A5408G						.						105.0	86.0	92.0					X																	153699869		2203	4300	6503	SO:0001583	missense	55558	exon32			TCAGCGACCAGGA	X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827		"""Plexins"""	9101	protein-coding gene	gene with protein product		300022		PLXN4		8248200, 8733135	Standard	NM_017514		Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.5408A>G	chrX.hg19:g.153699869A>G	ENSP00000358696:p.Asp1803Gly	92.0	0.0		78.0	4.0	NM_017514	Q5HY36	Missense_Mutation	SNP	ENST00000369682.3	hg19	CCDS14752.1	.	.	.	.	.	.	.	.	.	.	A	25.5	4.643616	0.87859	.	.	ENSG00000130827	ENST00000369682	T	0.19938	2.11	4.93	4.93	0.64822	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.50188	0.1601	M	0.87900	2.915	0.80722	D	1	D	0.69078	0.997	D	0.73708	0.981	T	0.58578	-0.7612	10	0.72032	D	0.01	.	12.718	0.57125	1.0:0.0:0.0:0.0	.	1803	P51805	PLXA3_HUMAN	G	1803	ENSP00000358696:D1803G	ENSP00000358696:D1803G	D	+	2	0	PLXNA3	153353063	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	9.332000	0.96446	1.641000	0.50575	0.356000	0.21956	GAC	.	.		0.542	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081634.1	NM_017514	
KLHL13	90293	hgsc.bcm.edu	37	X	117053530	117053536	+	Frame_Shift_Del	DEL	TGTAGGA	TGTAGGA	-			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	TGTAGGA	TGTAGGA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chrX:117053530_117053536delTGTAGGA	ENST00000262820.3	-	4	1427_1433	c.518_524delTCCTACA	c.(517-525)ttcctacagfs	p.FLQ173fs	KLHL13_ENST00000371876.1_Frame_Shift_Del_p.FLQ122fs|KLHL13_ENST00000539496.1_Frame_Shift_Del_p.FLQ176fs|KLHL13_ENST00000541812.1_Frame_Shift_Del_p.FLQ157fs|KLHL13_ENST00000371878.1_Frame_Shift_Del_p.FLQ122fs|KLHL13_ENST00000469946.1_Frame_Shift_Del_p.FLQ122fs|KLHL13_ENST00000540167.1_Frame_Shift_Del_p.FLQ157fs|KLHL13_ENST00000545703.1_Frame_Shift_Del_p.FLQ131fs|KLHL13_ENST00000371882.1_Frame_Shift_Del_p.FLQ122fs	NM_033495.3	NP_277030.2	Q9P2N7	KLH13_HUMAN	kelch-like family member 13	173					cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						TGGCAGAATCTGTAGGAAACTGGCAGC	0.386																																					p.176_178del		Atlas-Indel,Pindel	.											.	KLHL13	87	.	0			c.528_534del						.																																			SO:0001589	frameshift_variant	90293	exon5			.	AB037730	CCDS14571.1, CCDS55479.1, CCDS55480.1, CCDS55481.1	Xq23-q24	2013-01-30	2013-01-30	2004-02-18	ENSG00000003096	ENSG00000003096		"""Kelch-like"", ""BTB/POZ domain containing"""	22931	protein-coding gene	gene with protein product		300655	"""BTB and kelch domain containing 2, KIAA1309"", ""kelch-like 13 (Drosophila)"""	BKLHD2, KIAA1309		10718198	Standard	NM_033495		Approved	FLJ10262	uc011mtp.2	Q9P2N7	OTTHUMG00000022252	ENST00000262820.3:c.518_524delTCCTACA	chrX.hg19:g.117053530_117053536delTGTAGGA	ENSP00000262820:p.Phe173fs	342.0	0.0		165.0	69.0	NM_001168299	B3KV78|B3KWM7|B7Z3S9|B7Z5P2|B7Z802|D3DWH6|Q6P2E3|Q96QI7|Q9UDN9	Frame_Shift_Del	DEL	ENST00000262820.3	hg19	CCDS14571.1																																																																																			.	.		0.386	KLHL13-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_033495	
IKBKG	8517	hgsc.bcm.edu	37	X	153770550	153770550	+	5'UTR	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chrX:153770550T>C	ENST00000369607.1	+	0	73				G6PD_ENST00000393564.2_Intron|G6PD_ENST00000497281.1_Intron|G6PD_ENST00000393562.2_Intron|G6PD_ENST00000369620.2_Intron|IKBKG_ENST00000369609.5_Silent_p.S24S			Q9Y6K9	NEMO_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma						activation of MAPK activity (GO:0000187)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|B cell homeostasis (GO:0001782)|cellular response to DNA damage stimulus (GO:0006974)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of neuron death (GO:1901215)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|response to virus (GO:0009615)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|intracellular (GO:0005622)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	linear polyubiquitin binding (GO:1990450)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)|ubiquitin protein ligase binding (GO:0031625)			endometrium(1)|lung(1)	2	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TCAATCCCAGTCTCTTCCCCT	0.577																																					p.S24S		Atlas-SNP	.											.	IKBKG	17	.	0			c.T72C						.						54.0	44.0	47.0					X																	153770550		1568	3578	5146	SO:0001623	5_prime_UTR_variant	8517	exon1			TCCCAGTCTCTTC	AF074382	CCDS14757.1, CCDS48196.1, CCDS48197.1	Xq28	2014-09-17			ENSG00000073009	ENSG00000269335		"""Zinc fingers, C2HC-type containing"""	5961	protein-coding gene	gene with protein product		300248	"""incontinentia pigmenti"""	IP2, IP1		9751060, 10087442, 11590134	Standard	NM_001099857		Approved	IKK-gamma, NEMO, Fip3p, FIP-3, FIP3, ZC2HC9	uc011mzr.2	Q9Y6K9	OTTHUMG00000024234	ENST00000369607.1:c.-68T>C	chrX.hg19:g.153770550T>C		112.0	0.0		79.0	5.0	NM_001099856	Q7LBY6|Q7Z7F1	Silent	SNP	ENST00000369607.1	hg19	CCDS14757.1																																																																																			.	.		0.577	IKBKG-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000061155.2	NM_003639	
COMMD5	28991	hgsc.bcm.edu	37	8	146076649	146076650	+	In_Frame_Ins	INS	-	-	AAGAAACTCACTCGGCCA			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr8:146076649_146076650insAAGAAACTCACTCGGCCA	ENST00000305103.3	-	2	326_327	c.74_75insTGGCCGAGTGAGTTTCTT	c.(73-75)ttg>ttTGGCCGAGTGAGTTTCTTg	p.24_25insFGRVSF	AF235103.1_ENST00000578937.1_RNA|COMMD5_ENST00000450361.2_In_Frame_Ins_p.24_25insFGRVSF|ZNF250_ENST00000543949.1_3'UTR|COMMD5_ENST00000402718.3_In_Frame_Ins_p.24_25insFGRVSF	NM_014066.3	NP_054785.2	Q9GZQ3	COMD5_HUMAN	COMM domain containing 5	24						nucleus (GO:0005634)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|ovary(1)|pancreas(1)	11	all_cancers(97;1.14e-11)|all_epithelial(106;7.74e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)			GCTGGGCCCCCAAGAAACTCAC	0.564																																					p.L25delinsFGRVSFL		Pindel	.											.	COMMD5	18	.	0			c.75_76insTGGCCGAGTGAGTTTCTT						.																																			SO:0001652	inframe_insertion	28991	exon2			.	AK023070	CCDS6436.1	8q24.3	2006-11-06				ENSG00000170619			17902	protein-coding gene	gene with protein product		608216				15799966, 10918053	Standard	NM_014066		Approved	HT002, FLJ13008, HCaRG	uc003zem.3	Q9GZQ3		ENST00000305103.3:c.57_74dupTGGCCGAGTGAGTTTCTT	chr8.hg19:g.146076649_146076650insAAGAAACTCACTCGGCCA	ENSP00000304544:p.Phe24_Leu25insPheGlyArgValSerPhe	92.0	0.0		71.0	16.0	NM_001081004	D3DWN7|Q9NVN6|Q9UHX5	In_Frame_Ins	INS	ENST00000305103.3	hg19	CCDS6436.1																																																																																			.	.		0.564	COMMD5-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000382962.1	NM_014066	
