#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
MMEL1	79258	hgsc.bcm.edu	37	1	2537745	2537745	+	Missense_Mutation	SNP	A	A	G			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr1:2537745A>G	ENST00000378412.3	-	8	853	c.692T>C	c.(691-693)gTc>gCc	p.V231A	MMEL1_ENST00000502556.1_Intron|MMEL1_ENST00000288709.6_Missense_Mutation_p.V222A			Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	231						endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		GTCGATGAGGACGCGCCTGTT	0.647																																					p.V231A		Atlas-SNP	.											.	MMEL1	64	.	0			c.T692C						.						65.0	59.0	61.0					1																	2537745		2203	4300	6503	SO:0001583	missense	79258	exon8			ATGAGGACGCGCC	AF336981	CCDS30569.1, CCDS30569.2	1p36	2008-02-05			ENSG00000142606	ENSG00000142606			14668	protein-coding gene	gene with protein product			"""membrane metallo-endopeptidase-like 2"""	MMEL2			Standard	NM_033467		Approved	SEP, NL1, NL2, NEPII	uc001ajy.2	Q495T6	OTTHUMG00000000846	ENST00000378412.3:c.692T>C	chr1.hg19:g.2537745A>G	ENSP00000367668:p.Val231Ala	130.0	0.0		95.0	4.0	NM_033467	B9DI79|Q495T7|Q495T8|Q5SZS6|Q96PH9	Missense_Mutation	SNP	ENST00000378412.3	hg19	CCDS30569.2	.	.	.	.	.	.	.	.	.	.	a	4.482	0.089316	0.08632	.	.	ENSG00000142606	ENST00000288709;ENST00000378412	T;T	0.75154	-0.91;-0.91	4.76	4.76	0.60689	Peptidase M13 (1);	0.495220	0.21506	N	0.073442	T	0.68210	0.2976	L	0.50919	1.6	0.26583	N	0.973333	B	0.19445	0.036	B	0.28465	0.09	T	0.54596	-0.8270	10	0.12103	T	0.63	-33.0256	13.4557	0.61197	1.0:0.0:0.0:0.0	.	231	Q495T6	MMEL1_HUMAN	A	222;231	ENSP00000288709:V222A;ENSP00000367668:V231A	ENSP00000288709:V222A	V	-	2	0	MMEL1	2527605	0.699000	0.27786	0.952000	0.39060	0.936000	0.57629	3.247000	0.51422	1.766000	0.52107	0.523000	0.50628	GTC	.	.		0.647	MMEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002395.2	NM_033467	
MEGF6	1953	hgsc.bcm.edu	37	1	3414980	3414980	+	Missense_Mutation	SNP	G	G	A			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr1:3414980G>A	ENST00000356575.4	-	26	3533	c.3307C>T	c.(3307-3309)Cgc>Tgc	p.R1103C	MEGF6_ENST00000294599.4_Missense_Mutation_p.R912C	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	1103	EGF-like 20. {ECO:0000255|PROSITE- ProRule:PRU00076}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		CAGAGGCAGCGGCCCGTGTGC	0.716																																					p.R1103C	Ovarian(73;978 3658)	Atlas-SNP	.											.	MEGF6	91	.	0			c.C3307T						.						4.0	6.0	5.0					1																	3414980		1677	3843	5520	SO:0001583	missense	1953	exon26			GGCAGCGGCCCGT	AB011539	CCDS41237.1	1p36.3	2008-02-05	2006-03-31	2006-03-31	ENSG00000162591	ENSG00000162591			3232	protein-coding gene	gene with protein product		604266	"""EGF-like-domain, multiple 3"""	EGFL3		9693030	Standard	NM_001409		Approved		uc001akl.3	O75095	OTTHUMG00000000611	ENST00000356575.4:c.3307C>T	chr1.hg19:g.3414980G>A	ENSP00000348982:p.Arg1103Cys	27.0	0.0		46.0	6.0	NM_001409	Q4AC86|Q5VV39	Missense_Mutation	SNP	ENST00000356575.4	hg19	CCDS41237.1	.	.	.	.	.	.	.	.	.	.	G	12.43	1.935285	0.34189	.	.	ENSG00000162591	ENST00000294599;ENST00000356575	T;T	0.63096	-0.02;1.41	3.8	-1.46	0.08800	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.675552	0.14231	U	0.332711	T	0.64649	0.2617	L	0.60845	1.875	0.18873	N	0.999981	D;D	0.62365	0.991;0.989	P;P	0.55615	0.701;0.78	T	0.57860	-0.7738	10	0.49607	T	0.09	-3.2323	8.6585	0.34077	0.0:0.241:0.5041:0.2548	.	1103;912	O75095;O75095-2	MEGF6_HUMAN;.	C	912;1103	ENSP00000294599:R912C;ENSP00000348982:R1103C	ENSP00000294599:R912C	R	-	1	0	MEGF6	3404840	0.002000	0.14202	0.005000	0.12908	0.113000	0.19764	1.208000	0.32345	-0.123000	0.11745	0.205000	0.17691	CGC	.	.		0.716	MEGF6-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354866.1	NM_001409	
ZNF684	127396	hgsc.bcm.edu	37	1	41012332	41012332	+	Missense_Mutation	SNP	A	A	G			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr1:41012332A>G	ENST00000372699.3	+	5	588	c.337A>G	c.(337-339)Atg>Gtg	p.M113V	ZNF684_ENST00000493756.1_3'UTR	NM_152373.3	NP_689586.3	Q5T5D7	ZN684_HUMAN	zinc finger protein 684	113					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(2)|kidney(2)|lung(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;5.42e-18)			AATTCTGACTATGGAGAGAAT	0.348																																					p.M113V		Atlas-SNP	.											.	ZNF684	37	.	0			c.A337G						.						54.0	55.0	55.0					1																	41012332		2203	4300	6503	SO:0001583	missense	127396	exon5			CTGACTATGGAGA		CCDS454.1	1p34.2	2013-01-08			ENSG00000117010	ENSG00000117010		"""Zinc fingers, C2H2-type"", ""-"""	28418	protein-coding gene	gene with protein product	"""hypothetical protein MGC27466"""					12477932	Standard	NM_152373		Approved	MGC27466	uc001cft.2	Q5T5D7	OTTHUMG00000007359	ENST00000372699.3:c.337A>G	chr1.hg19:g.41012332A>G	ENSP00000361784:p.Met113Val	88.0	0.0		76.0	32.0	NM_152373	Q2NKY4	Missense_Mutation	SNP	ENST00000372699.3	hg19	CCDS454.1	.	.	.	.	.	.	.	.	.	.	A	2.435	-0.329956	0.05314	.	.	ENSG00000117010	ENST00000372699	T	0.04603	3.59	4.21	0.651	0.17817	.	0.854707	0.09813	N	0.752507	T	0.04318	0.0119	L	0.41824	1.3	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48269	-0.9050	10	0.16896	T	0.51	.	6.743	0.23447	0.6716:0.0:0.3284:0.0	.	113	Q5T5D7	ZN684_HUMAN	V	113	ENSP00000361784:M113V	ENSP00000361784:M113V	M	+	1	0	ZNF684	40784919	0.032000	0.19561	0.004000	0.12327	0.960000	0.62799	0.531000	0.23052	0.015000	0.14971	0.533000	0.62120	ATG	.	.		0.348	ZNF684-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019260.3	NM_152373	
ZMYND12	84217	hgsc.bcm.edu	37	1	42914250	42914250	+	Silent	SNP	G	G	A			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr1:42914250G>A	ENST00000372565.3	-	3	581	c.312C>T	c.(310-312)caC>caT	p.H104H	ZMYND12_ENST00000433602.2_Intron	NM_032257.4	NP_115633.3	Q9H0C1	ZMY12_HUMAN	zinc finger, MYND-type containing 12	104						intracellular (GO:0005622)	metal ion binding (GO:0046872)			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|skin(2)	17	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CAGCATCTTCGTGTTTCCCTT	0.483																																					p.H104H		Atlas-SNP	.											.	ZMYND12	35	.	0			c.C312T						.						114.0	102.0	106.0					1																	42914250		2203	4300	6503	SO:0001819	synonymous_variant	84217	exon3			ATCTTCGTGTTTC	AK057384	CCDS467.1	1p34.1	2008-02-05			ENSG00000066185	ENSG00000066185		"""Zinc fingers, MYND-type"""	21192	protein-coding gene	gene with protein product						11230166	Standard	NM_032257		Approved	DKFZp434N2435	uc001chj.3	Q9H0C1	OTTHUMG00000007333	ENST00000372565.3:c.312C>T	chr1.hg19:g.42914250G>A		167.0	0.0		151.0	50.0	NM_032257	Q5VUS6|Q8TC87|Q96M51	Silent	SNP	ENST00000372565.3	hg19	CCDS467.1																																																																																			.	.		0.483	ZMYND12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019170.1	NM_032257	
SZT2	23334	hgsc.bcm.edu	37	1	43869391	43869391	+	Silent	SNP	T	T	G			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr1:43869391T>G	ENST00000562955.1	+	3	273	c.273T>G	c.(271-273)gcT>gcG	p.A91A	SZT2_ENST00000372450.4_Silent_p.A89A|SZT2_ENST00000310739.4_Silent_p.A91A	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	91					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						CCTTCCTGGCTTGGCAGTATC	0.562																																					p.A91A		Atlas-SNP	.											.	SZT2	383	.	0			c.T273G						.						171.0	146.0	154.0					1																	43869391		2203	4300	6503	SO:0001819	synonymous_variant	23334	exon3			CCTGGCTTGGCAG	AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"""seizure threshold 2 homolog A (mouse)"", ""seizure threshold 2 homolog B (mouse)"""	615463	"""chromosome 1 open reading frame 84"", ""KIAA0467"""	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.273T>G	chr1.hg19:g.43869391T>G		127.0	0.0		121.0	40.0	NM_015284	A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Silent	SNP	ENST00000562955.1	hg19	CCDS30694.2																																																																																			.	.		0.562	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284	
SZT2	23334	hgsc.bcm.edu	37	1	43896222	43896222	+	Silent	SNP	A	A	G			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr1:43896222A>G	ENST00000562955.1	+	31	4365	c.4365A>G	c.(4363-4365)gaA>gaG	p.E1455E	SZT2_ENST00000372442.1_Silent_p.E613E	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	1512					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						TAGAGGTAGAATACCGGGAGA	0.542																																					p.E1455E		Atlas-SNP	.											.	SZT2	383	.	0			c.A4365G						.						67.0	68.0	68.0					1																	43896222		2203	4300	6503	SO:0001819	synonymous_variant	23334	exon31			GGTAGAATACCGG	AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"""seizure threshold 2 homolog A (mouse)"", ""seizure threshold 2 homolog B (mouse)"""	615463	"""chromosome 1 open reading frame 84"", ""KIAA0467"""	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.4365A>G	chr1.hg19:g.43896222A>G		78.0	0.0		76.0	4.0	NM_015284	A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Silent	SNP	ENST00000562955.1	hg19	CCDS30694.2																																																																																			.	.		0.542	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284	
FAF1	11124	hgsc.bcm.edu	37	1	51210403	51210403	+	Missense_Mutation	SNP	A	A	G			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr1:51210403A>G	ENST00000396153.2	-	5	863	c.412T>C	c.(412-414)Tcc>Ccc	p.S138P	FAF1_ENST00000371778.4_Missense_Mutation_p.S138P	NM_007051.2	NP_008982.1	Q9UNN5	FAF1_HUMAN	Fas (TNFRSF6) associated factor 1	138					apoptotic process (GO:0006915)|cell death (GO:0008219)|cytoplasmic sequestering of NF-kappaB (GO:0007253)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of protein complex assembly (GO:0031334)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of cell adhesion (GO:0030155)|regulation of protein catabolic process (GO:0042176)|regulation of protein kinase activity (GO:0045859)	CD95 death-inducing signaling complex (GO:0031265)|Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	heat shock protein binding (GO:0031072)|NF-kappaB binding (GO:0051059)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)	p.0?(2)		breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)		AGCATTTTGGACACAGGTATC	0.313																																					p.S138P		Atlas-SNP	.											.	FAF1	64	.	2	Whole gene deletion(2)	thyroid(1)|haematopoietic_and_lymphoid_tissue(1)	c.T412C						.						142.0	137.0	139.0					1																	51210403		2203	4299	6502	SO:0001583	missense	11124	exon5			TTTTGGACACAGG	AF132938	CCDS554.1	1p32.3	2012-09-20			ENSG00000185104	ENSG00000185104		"""UBX domain containing"""	3578	protein-coding gene	gene with protein product	"""TNFRSF6-associated factor 1"", ""UBX domain protein 3A"""	604460				10462485	Standard	NM_007051		Approved	CGI-03, hFAF1, HFAF1s, UBXD12, UBXN3A	uc001cse.1	Q9UNN5	OTTHUMG00000007930	ENST00000396153.2:c.412T>C	chr1.hg19:g.51210403A>G	ENSP00000379457:p.Ser138Pro	58.0	0.0		66.0	4.0	NM_007051	Q549F0|Q9UF34|Q9UNT3|Q9Y2Z3	Missense_Mutation	SNP	ENST00000396153.2	hg19	CCDS554.1	.	.	.	.	.	.	.	.	.	.	A	15.26	2.779830	0.49891	.	.	ENSG00000185104	ENST00000396153;ENST00000371778;ENST00000371780;ENST00000543607	.	.	.	5.85	4.52	0.55395	.	0.056613	0.64402	N	0.000001	T	0.50446	0.1616	L	0.44542	1.39	0.80722	D	1	D	0.54601	0.967	P	0.49799	0.622	T	0.46596	-0.9180	9	0.45353	T	0.12	-15.6875	9.0605	0.36431	0.8859:0.0:0.1141:0.0	.	138	Q9UNN5	FAF1_HUMAN	P	138;138;130;138	.	ENSP00000360843:S138P	S	-	1	0	FAF1	50982991	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.853000	0.69496	0.837000	0.34925	0.533000	0.62120	TCC	.	.		0.313	FAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021807.1	NM_007051	
NRD1	4898	hgsc.bcm.edu	37	1	52306079	52306079	+	Missense_Mutation	SNP	T	T	A	rs62648104		TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr1:52306079T>A	ENST00000354831.7	-	2	638	c.449A>T	c.(448-450)gAg>gTg	p.E150V	NRD1_ENST00000544028.1_Missense_Mutation_p.E18V|NRD1_ENST00000539524.1_Missense_Mutation_p.E18V|NRD1_ENST00000352171.7_Missense_Mutation_p.E150V|NRD1_ENST00000485608.1_5'UTR	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	0	Asp/Glu-rich (highly acidic).|Poly-Glu.				cell migration (GO:0016477)|cell proliferation (GO:0008283)|neuromuscular junction development (GO:0007528)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|proteolysis (GO:0006508)|regulation of endopeptidase activity (GO:0052548)	cell surface (GO:0009986)|cytosol (GO:0005829)	epidermal growth factor binding (GO:0048408)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						ttcttcttcctccacctcctc	0.378																																					p.E150V		Atlas-SNP	.											.	NRD1	89	.	0			c.A449T						.						163.0	138.0	146.0					1																	52306079		2203	4300	6503	SO:0001583	missense	4898	exon2			TCTTCCTCCACCT	X93207	CCDS559.1, CCDS41335.1, CCDS55599.1	1p32.2-p32.1	2008-07-18			ENSG00000078618	ENSG00000078618			7995	protein-coding gene	gene with protein product		602651				9581555, 9479496	Standard	NM_002525		Approved	hNRD1, hNRD2	uc001ctc.4	O43847	OTTHUMG00000008278	ENST00000354831.7:c.449A>T	chr1.hg19:g.52306079T>A	ENSP00000346890:p.Glu150Val	216.0	0.0		205.0	19.0	NM_001101662	A6NI41|O15241|O15242|Q5VUL0|Q96HB2|Q9NU57	Missense_Mutation	SNP	ENST00000354831.7	hg19	CCDS559.1	.	.	.	.	.	.	.	.	.	.	T	3.056	-0.194350	0.06259	.	.	ENSG00000078618	ENST00000352171;ENST00000354831;ENST00000539524;ENST00000546169;ENST00000544028	T;T;T;T	0.38240	1.31;3.15;1.15;1.22	5.25	2.92	0.33932	Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.525899	0.19688	N	0.108344	T	0.18341	0.0440	N	0.14661	0.345	0.09310	N	1	B;B;B	0.23650	0.062;0.089;0.01	B;B;B	0.17098	0.017;0.007;0.007	T	0.14755	-1.0461	10	0.38643	T	0.18	-0.0317	5.1939	0.15225	0.0:0.1704:0.2022:0.6274	rs62648104	150;150;150	F5H6R2;O43847;B1AKJ5	.;NRDC_HUMAN;.	V	150;150;18;150;18	ENSP00000262679:E150V;ENSP00000346890:E150V;ENSP00000444416:E18V;ENSP00000442262:E18V	ENSP00000262679:E150V	E	-	2	0	NRD1	52078667	0.129000	0.22400	0.012000	0.15200	0.145000	0.21501	0.870000	0.28010	0.317000	0.23160	0.454000	0.30748	GAG	.	T|0.024;A|0.976		0.378	NRD1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023045.1	NM_002525	
USP24	23358	hgsc.bcm.edu	37	1	55603294	55603294	+	Missense_Mutation	SNP	A	A	G			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr1:55603294A>G	ENST00000294383.6	-	28	3094	c.3095T>C	c.(3094-3096)gTg>gCg	p.V1032A	USP24_ENST00000407756.1_Missense_Mutation_p.V872A	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	1032					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						AGAAGTCTTCACTGTAAGGAT	0.448																																					p.V1032A		Atlas-SNP	.											.	USP24	323	.	0			c.T3095C						.						63.0	63.0	63.0					1																	55603294		1861	4108	5969	SO:0001583	missense	23358	exon28			GTCTTCACTGTAA	AB028980	CCDS44154.1, CCDS44154.2	1p32.3	2008-04-11	2005-08-08		ENSG00000162402	ENSG00000162402		"""Ubiquitin-specific peptidases"""	12623	protein-coding gene	gene with protein product		610569	"""ubiquitin specific protease 24"""			12838346	Standard	NM_015306		Approved	KIAA1057	uc021onw.1	Q9UPU5	OTTHUMG00000008135	ENST00000294383.6:c.3095T>C	chr1.hg19:g.55603294A>G	ENSP00000294383:p.Val1032Ala	61.0	0.0		60.0	4.0	NM_015306	Q6ZSY2|Q8N2Y4|Q9NXD1	Missense_Mutation	SNP	ENST00000294383.6	hg19	CCDS44154.2	.	.	.	.	.	.	.	.	.	.	A	6.097	0.386217	0.11524	.	.	ENSG00000162402	ENST00000294383;ENST00000407756	T;T	0.49139	0.79;0.79	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.52338	0.1728	L	0.28556	0.865	0.58432	D	0.999998	D	0.67145	0.996	P	0.61070	0.883	T	0.44128	-0.9348	10	0.20519	T	0.43	.	15.9568	0.79893	1.0:0.0:0.0:0.0	.	872	B7WPF4	.	A	1032;872	ENSP00000294383:V1032A;ENSP00000385700:V872A	ENSP00000294383:V1032A	V	-	2	0	USP24	55375882	1.000000	0.71417	0.999000	0.59377	0.501000	0.33797	8.962000	0.93254	2.158000	0.67659	0.460000	0.39030	GTG	.	.		0.448	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022275.2		
C1orf168	199920	hgsc.bcm.edu	37	1	57207872	57207872	+	Silent	SNP	T	T	C			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr1:57207872T>C	ENST00000343433.6	-	12	1646	c.1566A>G	c.(1564-1566)gaA>gaG	p.E522E	C1orf168_ENST00000484327.1_5'UTR	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	522										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						TGTAGACATCTTCATACAGTT	0.313																																					p.E522E		Atlas-SNP	.											C1orf168,NS,carcinoma,0,1	C1orf168	102	.	0			c.A1566G						.						126.0	122.0	123.0					1																	57207872		2201	4300	6501	SO:0001819	synonymous_variant	199920	exon12			GACATCTTCATAC	BX648439	CCDS30729.1	1p32.2	2011-02-22			ENSG00000187889	ENSG00000187889			27295	protein-coding gene	gene with protein product						14702039	Standard	NM_001004303		Approved	RP4-758N20.2, FLJ43208	uc001cym.4	Q5VWT5	OTTHUMG00000008281	ENST00000343433.6:c.1566A>G	chr1.hg19:g.57207872T>C		58.0	0.0		46.0	2.0	NM_001004303	Q63HM3|Q6ZUY6	Silent	SNP	ENST00000343433.6	hg19	CCDS30729.1																																																																																			.	.		0.313	C1orf168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022751.2	NM_001004303	
LRRC7	57554	hgsc.bcm.edu	37	1	70509692	70509692	+	Missense_Mutation	SNP	T	T	C			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr1:70509692T>C	ENST00000035383.5	+	20	3941	c.3911T>C	c.(3910-3912)aTt>aCt	p.I1304T	LRRC7_ENST00000310961.5_Intron|LRRC7_ENST00000415775.2_Missense_Mutation_p.I588T	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1304						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						TATGGAGGTATTTCAGCAATG	0.413																																					p.I1304T		Atlas-SNP	.											.	LRRC7	400	.	0			c.T3911C						.						148.0	132.0	137.0					1																	70509692		2203	4300	6503	SO:0001583	missense	57554	exon20			GAGGTATTTCAGC		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.3911T>C	chr1.hg19:g.70509692T>C	ENSP00000035383:p.Ile1304Thr	102.0	0.0		97.0	4.0	NM_020794	Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	hg19	CCDS645.1	.	.	.	.	.	.	.	.	.	.	T	16.37	3.104198	0.56291	.	.	ENSG00000033122	ENST00000035383;ENST00000415775	T;T	0.35421	1.31;2.41	6.16	6.16	0.99307	.	0.091197	0.47852	D	0.000206	T	0.11836	0.0288	N	0.14661	0.345	0.38445	D	0.946813	B;B	0.26258	0.145;0.01	B;B	0.24006	0.05;0.013	T	0.11397	-1.0589	10	0.20519	T	0.43	.	15.9872	0.80168	0.0:0.0:0.0:1.0	.	588;1304	F8WE45;Q96NW7	.;LRRC7_HUMAN	T	1304;588	ENSP00000035383:I1304T;ENSP00000394867:I588T	ENSP00000035383:I1304T	I	+	2	0	LRRC7	70282280	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.700000	0.54786	2.367000	0.80283	0.528000	0.53228	ATT	.	.		0.413	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794	
ACADM	34	hgsc.bcm.edu	37	1	76198378	76198378	+	Silent	SNP	C	C	T			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr1:76198378C>T	ENST00000370841.4	+	3	605	c.168C>T	c.(166-168)gcC>gcT	p.A56A	ACADM_ENST00000543667.1_5'UTR|ACADM_ENST00000541113.1_Silent_p.A20A|ACADM_ENST00000420607.2_Silent_p.A60A|ACADM_ENST00000370834.5_Silent_p.A56A	NM_000016.4|NM_001127328.1	NP_000007.1|NP_001120800.1	P11310	ACADM_HUMAN	acyl-CoA dehydrogenase, C-4 to C-12 straight chain	56					cardiac muscle cell differentiation (GO:0055007)|carnitine biosynthetic process (GO:0045329)|carnitine metabolic process, CoA-linked (GO:0019254)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|glycogen biosynthetic process (GO:0005978)|liver development (GO:0001889)|medium-chain fatty acid catabolic process (GO:0051793)|medium-chain fatty acid metabolic process (GO:0051791)|oxidation-reduction process (GO:0055114)|post-embryonic development (GO:0009791)|regulation of gluconeogenesis (GO:0006111)|response to cold (GO:0009409)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	axon (GO:0030424)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|identical protein binding (GO:0042802)|medium-chain-acyl-CoA dehydrogenase activity (GO:0070991)			breast(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	18					Flavin adenine dinucleotide(DB03147)	GTAAATTTGCCAGAGAGGAAA	0.328																																					p.A60A		Atlas-SNP	.											.	ACADM	50	.	0			c.C180T						.						95.0	107.0	103.0					1																	76198378		2202	4300	6502	SO:0001819	synonymous_variant	34	exon3			ATTTGCCAGAGAG	M16827	CCDS668.1, CCDS44165.1, CCDS65562.1, CCDS72807.1	1p31	2014-09-17	2010-04-30		ENSG00000117054	ENSG00000117054	1.3.99.3		89	protein-coding gene	gene with protein product		607008	"""acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain"""			3035565	Standard	NM_000016		Approved	MCAD, MCADH, ACAD1	uc009wbp.3	P11310	OTTHUMG00000009784	ENST00000370841.4:c.168C>T	chr1.hg19:g.76198378C>T		154.0	0.0		122.0	35.0	NM_001127328	Q5T4U4|Q9NYF1	Silent	SNP	ENST00000370841.4	hg19	CCDS668.1																																																																																			.	.		0.328	ACADM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000026967.1		
COL24A1	255631	hgsc.bcm.edu	37	1	86340381	86340381	+	Missense_Mutation	SNP	T	T	C			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr1:86340381T>C	ENST00000370571.2	-	35	3455	c.3089A>G	c.(3088-3090)gAt>gGt	p.D1030G	COL24A1_ENST00000436319.1_Missense_Mutation_p.D1030G	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	1030	Collagen-like 9.				extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		AGTTCCAACATCTCCCTGAAG	0.478																																					p.D1030G		Atlas-SNP	.											.	COL24A1	202	.	0			c.A3089G						.						57.0	56.0	56.0					1																	86340381		1888	4110	5998	SO:0001583	missense	255631	exon35			CCAACATCTCCCT	AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"""Collagens"""	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.3089A>G	chr1.hg19:g.86340381T>C	ENSP00000359603:p.Asp1030Gly	115.0	0.0		102.0	6.0	NM_152890	C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Missense_Mutation	SNP	ENST00000370571.2	hg19	CCDS41353.1	.	.	.	.	.	.	.	.	.	.	T	12.29	1.893866	0.33442	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	D;D	0.93189	-3.18;-3.18	5.53	5.53	0.82687	.	0.326077	0.17100	N	0.187031	D	0.89431	0.6713	M	0.66439	2.03	0.80722	D	1	B;B	0.29862	0.095;0.259	B;B	0.36922	0.119;0.236	D	0.86591	0.1860	10	0.24483	T	0.36	.	12.0802	0.53667	0.0:0.0:0.0:1.0	.	1030;1030	Q17RW2;Q17RW2-2	COOA1_HUMAN;.	G	1030	ENSP00000359603:D1030G;ENSP00000392531:D1030G	ENSP00000359603:D1030G	D	-	2	0	COL24A1	86112969	0.994000	0.37717	0.997000	0.53966	0.856000	0.48823	2.760000	0.47581	2.100000	0.63781	0.533000	0.62120	GAT	.	.		0.478	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4	NM_152890	
KCNA10	3744	hgsc.bcm.edu	37	1	111060286	111060286	+	Nonsense_Mutation	SNP	A	A	T			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr1:111060286A>T	ENST00000369771.2	-	1	1511	c.1124T>A	c.(1123-1125)tTg>tAg	p.L375*		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	375					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|intracellular cyclic nucleotide activated cation channel activity (GO:0005221)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)	Dalfampridine(DB06637)	GAGCAACCCCAACTCCCGCAT	0.542																																					p.L375X		Atlas-SNP	.											.	KCNA10	92	.	0			c.T1124A						.						89.0	84.0	86.0					1																	111060286		2203	4300	6503	SO:0001587	stop_gained	3744	exon1			AACCCCAACTCCC	U96110	CCDS826.1	1p13.1	2012-07-05			ENSG00000143105	ENSG00000143105		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6219	protein-coding gene	gene with protein product		602420				16382104	Standard	NM_005549		Approved	Kv1.8	uc001dzt.1	Q16322	OTTHUMG00000022785	ENST00000369771.2:c.1124T>A	chr1.hg19:g.111060286A>T	ENSP00000358786:p.Leu375*	166.0	0.0		133.0	30.0	NM_005549		Nonsense_Mutation	SNP	ENST00000369771.2	hg19	CCDS826.1	.	.	.	.	.	.	.	.	.	.	A	40	8.092158	0.98648	.	.	ENSG00000143105	ENST00000369771	.	.	.	5.63	5.63	0.86233	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.7125	0.69244	1.0:0.0:0.0:0.0	.	.	.	.	X	375	.	ENSP00000358786:L375X	L	-	2	0	KCNA10	110861809	1.000000	0.71417	0.996000	0.52242	0.946000	0.59487	9.336000	0.96533	2.161000	0.67846	0.456000	0.33151	TTG	.	.		0.542	KCNA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059081.1	NM_005549	
RAP1A	5906	hgsc.bcm.edu	37	1	112247050	112247050	+	Missense_Mutation	SNP	A	A	G			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr1:112247050A>G	ENST00000369709.3	+	6	589	c.410A>G	c.(409-411)cAg>cGg	p.Q137R	RAP1A_ENST00000356415.1_Missense_Mutation_p.Q137R|RAP1A_ENST00000436150.2_Missense_Mutation_p.Q137R|RAP1A_ENST00000494982.1_3'UTR|RAP1A_ENST00000545460.1_Missense_Mutation_p.Q137R	NM_002884.2	NP_002875.1	P62834	RAP1A_HUMAN	RAP1A, member of RAS oncogene family	137					activation of MAPKK activity (GO:0000186)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to nerve growth factor stimulus (GO:1990090)|energy reserve metabolic process (GO:0006112)|establishment of endothelial barrier (GO:0061028)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of vasculogenesis (GO:2001214)|protein transport (GO:0015031)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|guanyl-nucleotide exchange factor complex (GO:0032045)|late endosome (GO:0005770)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|protein complex binding (GO:0032403)|protein transporter activity (GO:0008565)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)			endometrium(1)|large_intestine(2)|lung(3)	6		all_cancers(81;6.79e-06)|all_epithelial(167;2.42e-05)|all_lung(203;0.000105)|Lung NSC(277;0.00021)		Lung(183;0.0183)|Colorectal(144;0.0418)|LUSC - Lung squamous cell carcinoma(189;0.0966)|all cancers(265;0.098)|Epithelial(280;0.0981)|COAD - Colon adenocarcinoma(174;0.141)		TTAGCAAGACAGTGGTGTAAC	0.418																																					p.Q137R		Atlas-SNP	.											.	RAP1A	14	.	0			c.A410G						.						109.0	101.0	104.0					1																	112247050		2203	4300	6503	SO:0001583	missense	5906	exon7			CAAGACAGTGGTG	BC014086	CCDS840.1	1p13.3	2014-05-09			ENSG00000116473	ENSG00000116473			9855	protein-coding gene	gene with protein product		179520				3143720	Standard	XM_006710803		Approved	KREV-1, SMGP21	uc001ebl.3	P62834	OTTHUMG00000011959	ENST00000369709.3:c.410A>G	chr1.hg19:g.112247050A>G	ENSP00000358723:p.Gln137Arg	62.0	0.0		69.0	4.0	NM_001010935	P10113	Missense_Mutation	SNP	ENST00000369709.3	hg19	CCDS840.1	.	.	.	.	.	.	.	.	.	.	A	17.91	3.505479	0.64410	.	.	ENSG00000116473	ENST00000356415;ENST00000369709;ENST00000436150;ENST00000545460	T;T;T;T	0.76448	-1.02;-1.02;-1.02;-1.02	5.92	5.92	0.95590	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.55049	0.1896	N	0.20401	0.57	0.80722	D	1	B	0.02656	0.0	B	0.10450	0.005	T	0.57568	-0.7789	10	0.56958	D	0.05	.	16.0245	0.80532	1.0:0.0:0.0:0.0	.	137	P62834	RAP1A_HUMAN	R	137	ENSP00000348786:Q137R;ENSP00000358723:Q137R;ENSP00000394318:Q137R;ENSP00000443009:Q137R	ENSP00000348786:Q137R	Q	+	2	0	RAP1A	112048573	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.962000	0.93254	2.266000	0.75297	0.533000	0.62120	CAG	.	.		0.418	RAP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033071.1	NM_002884	
CD58	965	hgsc.bcm.edu	37	1	117087065	117087065	+	Nonsense_Mutation	SNP	T	T	A			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr1:117087065T>A	ENST00000369489.5	-	2	298	c.232A>T	c.(232-234)Aaa>Taa	p.K78*	CD58_ENST00000369487.3_Nonsense_Mutation_p.K78*|CD58_ENST00000457047.2_Nonsense_Mutation_p.K78*	NM_001779.2	NP_001770.1	P19256	LFA3_HUMAN	CD58 molecule	78	Ig-like.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular response to interferon-gamma (GO:0071346)|cellular response to tumor necrosis factor (GO:0071356)|heterotypic cell-cell adhesion (GO:0034113)|leukocyte migration (GO:0050900)|positive regulation of interleukin-8 secretion (GO:2000484)|single organismal cell-cell adhesion (GO:0016337)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(3)|urinary_tract(1)	9	Lung SC(450;0.225)	all_cancers(81;0.000363)|all_lung(203;0.000118)|all_epithelial(167;0.000149)|Lung NSC(69;0.000577)		Lung(183;0.0086)|LUSC - Lung squamous cell carcinoma(189;0.0528)|Colorectal(144;0.0775)|all cancers(265;0.109)|Epithelial(280;0.118)|COAD - Colon adenocarcinoma(174;0.121)		ACCCTATTTTTAAAAGATGAG	0.348																																					p.K78X		Atlas-SNP	.											.	CD58	40	.	0			c.A232T						.						77.0	80.0	79.0					1																	117087065		2203	4300	6503	SO:0001587	stop_gained	965	exon2			TATTTTTAAAAGA	BC005930	CCDS888.1, CCDS44199.1	1p13	2008-02-05	2006-03-28		ENSG00000116815	ENSG00000116815		"""CD molecules"""	1688	protein-coding gene	gene with protein product		153420	"""CD58 antigen, (lymphocyte function-associated antigen 3)"""	LFA3		9510189	Standard	NM_001144822		Approved		uc001egm.3	P19256	OTTHUMG00000022749	ENST00000369489.5:c.232A>T	chr1.hg19:g.117087065T>A	ENSP00000358501:p.Lys78*	163.0	0.0		183.0	68.0	NM_001144822	A8K7G5|Q5U053|Q6IB65|Q96KI9	Nonsense_Mutation	SNP	ENST00000369489.5	hg19	CCDS888.1	.	.	.	.	.	.	.	.	.	.	T	15.59	2.877464	0.51801	.	.	ENSG00000116815	ENST00000369489;ENST00000457047;ENST00000526981;ENST00000369487	.	.	.	3.71	-7.42	0.01388	.	3.724730	0.00780	N	0.001263	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.0431	0.09760	0.1173:0.4912:0.1476:0.2439	.	.	.	.	X	78;78;50;78	.	ENSP00000358499:K78X	K	-	1	0	CD58	116888588	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.690000	0.00831	-1.926000	0.01061	-0.496000	0.04628	AAA	.	.		0.348	CD58-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059036.1	NM_001779	
HIST2H2AB	317772	hgsc.bcm.edu	37	1	149859298	149859298	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr1:149859298C>A	ENST00000331128.3	-	1	168	c.169G>T	c.(169-171)Gag>Tag	p.E57*	HIST2H2BE_ENST00000369155.2_5'Flank|BOLA1_ENST00000369153.2_5'Flank	NM_175065.2	NP_778235.1	Q8IUE6	H2A2B_HUMAN	histone cluster 2, H2ab	57						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			GTCAGGTACTCGAGGACCGCC	0.662																																					p.E57X		Atlas-SNP	.											HIST2H2AB,NS,carcinoma,0,1	HIST2H2AB	49	.	0			c.G169T						.						44.0	49.0	47.0					1																	149859298		2203	4300	6503	SO:0001587	stop_gained	317772	exon1			GGTACTCGAGGAC	AY131972	CCDS938.1	1q21.2	2011-01-27	2006-10-11		ENSG00000184270	ENSG00000184270		"""Histones / Replication-dependent"""	20508	protein-coding gene	gene with protein product		615014	"""histone 2, H2ab"""			12408966	Standard	NM_175065		Approved		uc001ete.3	Q8IUE6	OTTHUMG00000012085	ENST00000331128.3:c.169G>T	chr1.hg19:g.149859298C>A	ENSP00000332790:p.Glu57*	208.0	0.0		349.0	73.0	NM_175065		Nonsense_Mutation	SNP	ENST00000331128.3	hg19	CCDS938.1	.	.	.	.	.	.	.	.	.	.	C	20.0	3.930053	0.73327	.	.	ENSG00000184270	ENST00000331128	.	.	.	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	14.7467	0.69494	0.0:1.0:0.0:0.0	.	.	.	.	X	57	.	ENSP00000332790:E57X	E	-	1	0	HIST2H2AB	148125922	1.000000	0.71417	0.999000	0.59377	0.676000	0.39594	4.977000	0.63792	2.621000	0.88768	0.655000	0.94253	GAG	.	.		0.662	HIST2H2AB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033440.1	NM_175065	
TARS2	80222	hgsc.bcm.edu	37	1	150471707	150471707	+	Missense_Mutation	SNP	C	C	G			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr1:150471707C>G	ENST00000369064.3	+	13	1589	c.1555C>G	c.(1555-1557)Ctg>Gtg	p.L519V	TARS2_ENST00000463555.1_3'UTR|TARS2_ENST00000438568.2_3'UTR|TARS2_ENST00000369054.2_Missense_Mutation_p.L389V|TARS2_ENST00000606933.1_Missense_Mutation_p.L437V	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	519					gene expression (GO:0010467)|mitochondrial threonyl-tRNA aminoacylation (GO:0070159)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|threonine-tRNA ligase activity (GO:0004829)			cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	TAAACAGGCCCTGAAGGAATT	0.453																																					p.L519V		Atlas-SNP	.											.	TARS2	91	.	0			c.C1555G						.						159.0	160.0	159.0					1																	150471707		2203	4300	6503	SO:0001583	missense	80222	exon13			CAGGCCCTGAAGG	BC007824	CCDS952.1, CCDS60251.1, CCDS60252.1	1q21.2	2012-10-26	2007-02-23	2007-02-23	ENSG00000143374	ENSG00000143374	6.1.1.3	"""Aminoacyl tRNA synthetases / Class II"""	30740	protein-coding gene	gene with protein product	"""threonine tRNA ligase 2, mitochondrial"""	612805	"""threonyl-tRNA synthetase-like 1"""	TARSL1			Standard	NM_001271895		Approved	FLJ12528	uc001euq.4	Q9BW92	OTTHUMG00000012809	ENST00000369064.3:c.1555C>G	chr1.hg19:g.150471707C>G	ENSP00000358060:p.Leu519Val	78.0	0.0		116.0	54.0	NM_025150	Q53GW7|Q96I50|Q9H9V2	Missense_Mutation	SNP	ENST00000369064.3	hg19	CCDS952.1	.	.	.	.	.	.	.	.	.	.	C	17.23	3.337235	0.60963	.	.	ENSG00000143374	ENST00000369054;ENST00000369064;ENST00000369051;ENST00000369052	.	.	.	5.28	2.24	0.28232	Aminoacyl-tRNA synthetase, class II (1);	0.000000	0.64402	D	0.000012	T	0.63153	0.2487	M	0.79475	2.455	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.83275	0.996;0.994;0.994	T	0.65602	-0.6128	9	0.87932	D	0	-10.6729	7.4539	0.27255	0.0:0.6927:0.0:0.3073	.	389;244;519	Q9H9V2;E7EVR9;Q9BW92	.;.;SYTM_HUMAN	V	389;519;244;244	.	ENSP00000358047:L244V	L	+	1	2	TARS2	148738331	1.000000	0.71417	0.998000	0.56505	0.640000	0.38277	1.380000	0.34351	0.296000	0.22592	0.655000	0.94253	CTG	.	.		0.453	TARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035847.1	NM_025150	
DENND4B	9909	hgsc.bcm.edu	37	1	153907287	153907287	+	Missense_Mutation	SNP	G	G	C	rs3835302|rs199597671		TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr1:153907287G>C	ENST00000361217.4	-	18	3140	c.2722C>G	c.(2722-2724)Cag>Gag	p.Q908E	DENND4B_ENST00000474386.1_5'Flank	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	908	Gln-rich.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			tcctgctgctgctgctgctgc	0.632																																					p.Q908E		Atlas-SNP	.											.	DENND4B	210	.	0			c.C2722G						.						23.0	27.0	26.0					1																	153907287		2184	4281	6465	SO:0001583	missense	9909	exon18			GCTGCTGCTGCTG	AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"""DENN/MADD domain containing"""	29044	protein-coding gene	gene with protein product			"""KIAA0476"""	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.2722C>G	chr1.hg19:g.153907287G>C	ENSP00000354597:p.Gln908Glu	48.0	0.0		122.0	18.0	NM_014856	Q5T4K0	Missense_Mutation	SNP	ENST00000361217.4	hg19	CCDS44228.1	.	.	.	.	.	.	.	.	.	.	G	1.785	-0.481073	0.04383	.	.	ENSG00000198837	ENST00000361217;ENST00000368646	T;T	0.06294	3.33;3.32	2.67	0.673	0.17941	.	5.053470	0.00166	N	0.000001	T	0.00815	0.0027	N	0.14661	0.345	0.19300	N	0.999977	B	0.02656	0.0	B	0.04013	0.001	T	0.26573	-1.0099	10	0.02654	T	1	-2.4288	3.3651	0.07201	0.1454:0.0:0.5849:0.2697	.	908	O75064	DEN4B_HUMAN	E	908;919	ENSP00000354597:Q908E;ENSP00000357635:Q919E	ENSP00000354597:Q908E	Q	-	1	0	DENND4B	152173911	0.943000	0.32029	0.986000	0.45419	0.760000	0.43138	0.537000	0.23144	0.194000	0.20326	0.271000	0.19318	CAG	.	.		0.632	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090278.2	XM_375806	
ATP8B2	57198	hgsc.bcm.edu	37	1	154319146	154319146	+	Missense_Mutation	SNP	G	G	T			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr1:154319146G>T	ENST00000368489.3	+	26	3174	c.3174G>T	c.(3172-3174)tgG>tgT	p.W1058C		NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	1044					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	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)		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TCTTCATCTGGGGAAGCCTTG	0.542																																					p.W1058C		Atlas-SNP	.											.	ATP8B2	158	.	0			c.G3174T						.						232.0	162.0	186.0					1																	154319146		2203	4300	6503	SO:0001583	missense	57198	exon26			CATCTGGGGAAGC	AB032963	CCDS1066.1, CCDS41405.1	1q21.3	2012-03-09	2012-03-09		ENSG00000143515	ENSG00000143515		"""ATPases / P-type"""	13534	protein-coding gene	gene with protein product		605867	"""ATPase, class I, type 8B, member 2"""			10574461, 11015572	Standard	NM_020452		Approved	ATPID, KIAA1137	uc001fex.3	P98198	OTTHUMG00000035979	ENST00000368489.3:c.3174G>T	chr1.hg19:g.154319146G>T	ENSP00000357475:p.Trp1058Cys	347.0	0.0		518.0	157.0	NM_020452	B4E3P4|Q6NT69|Q7Z486|Q96I43|Q96NQ7	Missense_Mutation	SNP	ENST00000368489.3	hg19	CCDS1066.1	.	.	.	.	.	.	.	.	.	.	G	17.97	3.519083	0.64634	.	.	ENSG00000143515	ENST00000368489	T	0.74526	-0.85	4.85	4.85	0.62838	.	0.000000	0.85682	D	0.000000	D	0.85004	0.5598	M	0.83012	2.62	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	D	0.87026	0.2132	10	0.72032	D	0.01	.	16.7081	0.85377	0.0:0.0:1.0:0.0	.	1058	P98198-3	.	C	1058	ENSP00000357475:W1058C	ENSP00000357475:W1058C	W	+	3	0	ATP8B2	152585770	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	7.799000	0.85936	2.512000	0.84698	0.655000	0.94253	TGG	.	.		0.542	ATP8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087658.2	NM_020452	
TRIM46	80128	hgsc.bcm.edu	37	1	155148089	155148089	+	Silent	SNP	C	C	A			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr1:155148089C>A	ENST00000334634.4	+	2	291	c.291C>A	c.(289-291)ccC>ccA	p.P97P	TRIM46_ENST00000368383.3_Silent_p.P97P|TRIM46_ENST00000545012.1_Intron|TRIM46_ENST00000392451.2_Silent_p.P97P|TRIM46_ENST00000368382.1_Silent_p.P74P|KRTCAP2_ENST00000490672.1_5'Flank|TRIM46_ENST00000368385.4_Silent_p.P97P|TRIM46_ENST00000543729.1_Silent_p.P104P|KRTCAP2_ENST00000295682.4_5'Flank|RP11-201K10.3_ENST00000473363.2_Intron|TRIM46_ENST00000468878.1_3'UTR	NM_001256601.1|NM_001282378.1	NP_001243530.1|NP_001269307.1	Q7Z4K8	TRI46_HUMAN	tripartite motif containing 46	97						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GAACTCTCCCCAAGCCAGACC	0.637																																					p.P97P		Atlas-SNP	.											.	TRIM46	79	.	0			c.C291A						.						36.0	42.0	40.0					1																	155148089		2178	4263	6441	SO:0001819	synonymous_variant	80128	exon2			TCTCCCCAAGCCA		CCDS1097.1, CCDS58033.1, CCDS60285.1, CCDS72932.1, CCDS72931.1	1q22	2013-01-09	2011-01-25		ENSG00000163462	ENSG00000163462		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19019	protein-coding gene	gene with protein product		600986	"""tripartite motif-containing 46"""				Standard	NM_025058		Approved	FLJ23229, TRIFIC	uc001fhs.2	Q7Z4K8	OTTHUMG00000035680	ENST00000334634.4:c.291C>A	chr1.hg19:g.155148089C>A		56.0	0.0		84.0	31.0	NM_025058	A0AVI6|B1AVQ4|Q5VT60|Q5VT62|Q6NT17|Q6NT41|Q6ZRL7|Q9H5P2	Silent	SNP	ENST00000334634.4	hg19	CCDS1097.1																																																																																			.	.		0.637	TRIM46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086728.1	NM_025058	
THBS3	7059	hgsc.bcm.edu	37	1	155167450	155167451	+	Splice_Site	DNP	CC	CC	AT	rs376682256		TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr1:155167450_155167451CC>AT	ENST00000368378.3	-	20	2323	c.2303_2303GG>AT	c.(2302-2304)gGGg>gATgg	p.G768D	RP11-263K19.4_ENST00000454348.1_RNA|THBS3_ENST00000541576.1_Splice_Site_p.G165D|THBS3_ENST00000486260.1_5'Flank|RP11-263K19.4_ENST00000453136.1_RNA|RP11-263K19.4_ENST00000447623.1_RNA|RP11-263K19.4_ENST00000436772.1_RNA|THBS3_ENST00000541990.1_Splice_Site_p.G297D|MIR92B_ENST00000607575.1_RNA|RP11-263K19.4_ENST00000422665.1_RNA|THBS3_ENST00000457183.2_Splice_Site_p.G648D	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	thrombospondin 3	768	TSP C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00635}.				bone trabecula formation (GO:0060346)|cell-matrix adhesion (GO:0007160)|growth plate cartilage development (GO:0003417)|ossification involved in bone maturation (GO:0043931)	extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GGCCGTGTATCCTGGGGTGGGG	0.525																																					p.G768V|.		Atlas-SNP	.											.	THBS3	70	.	0			c.G2303T|c.2303-1G>A						.																																			SO:0001630	splice_region_variant	7059	exon20|exon21			GTGTATCCTGGGG|TGTATCCTGGGGT	L38969	CCDS1099.1, CCDS58034.1, CCDS72937.1	1q21	2008-02-05			ENSG00000169231	ENSG00000169231			11787	protein-coding gene	gene with protein product		188062				1601886	Standard	NM_007112		Approved		uc001fix.3	P49746	OTTHUMG00000035710	ENST00000368378.3:c.2303_2303delinsAT	chr1.hg19:g.155167450_155167451delinsAT		107.0|110.0	0.0		156.0|158.0	18.0	NM_007112	B1AVR8|B4DQ20|Q8WV34	Missense_Mutation|Splice_Site	SNP	ENST00000368378.3	hg19	CCDS1099.1																																																																																			.	.		0.525	THBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086856.1	NM_007112	Missense_Mutation
GON4L	54856	hgsc.bcm.edu	37	1	155734765	155734765	+	Intron	SNP	A	A	G	rs199671178		TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr1:155734765A>G	ENST00000368331.1	-	21	4522				GON4L_ENST00000437809.1_Intron|GON4L_ENST00000361040.5_Missense_Mutation_p.V1500A|GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000271883.5_Intron	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)						regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					TCCACGAAATACTTGAGAATA	0.408																																					p.V1500A		Atlas-SNP	.											.	GON4L	392	.	0			c.T4499C						.						79.0	72.0	74.0					1																	155734765		2203	4300	6503	SO:0001627	intron_variant	54856	exon21			CGAAATACTTGAG	AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"""gon-4 homolog (C.elegans)"""	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.4473+25T>C	chr1.hg19:g.155734765A>G		259.0	0.0		377.0	63.0	NM_032292	B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Missense_Mutation	SNP	ENST00000368331.1	hg19		.	.	.	.	.	.	.	.	.	.	A	12.85	2.062987	0.36373	.	.	ENSG00000116580	ENST00000361040	T	0.14144	2.53	4.79	-2.37	0.06643	.	.	.	.	.	T	0.01489	0.0048	N	0.08118	0	0.09310	N	1	B	0.15930	0.015	B	0.16289	0.015	T	0.45920	-0.9228	9	0.87932	D	0	.	0.4695	0.00529	0.225:0.2692:0.1546:0.3512	.	1500	Q3T8J9-2	.	A	1500	ENSP00000354322:V1500A	ENSP00000354322:V1500A	V	-	2	0	GON4L	154001389	0.000000	0.05858	0.000000	0.03702	0.082000	0.17680	-0.175000	0.09825	-0.617000	0.05664	0.529000	0.55759	GTA	.	A|1.000;T|0.000		0.408	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_032292	
FCRL5	83416	hgsc.bcm.edu	37	1	157514336	157514336	+	Splice_Site	SNP	T	T	C			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr1:157514336T>C	ENST00000361835.3	-	5	717	c.560A>G	c.(559-561)gAg>gGg	p.E187G	FCRL5_ENST00000356953.4_Splice_Site_p.E187G|FCRL5_ENST00000368189.3_Splice_Site_p.E187G|FCRL5_ENST00000368191.3_Splice_Site_p.E102G|FCRL5_ENST00000368190.3_Splice_Site_p.E187G	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	187					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)				TGTAAATGGCTCTAGAGAGAA	0.527																																					p.E187G		Atlas-SNP	.											.	FCRL5	177	.	0			c.A560G						.						74.0	72.0	73.0					1																	157514336		2203	4300	6503	SO:0001630	splice_region_variant	83416	exon5			AATGGCTCTAGAG	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.560-1A>G	chr1.hg19:g.157514336T>C		61.0	0.0		110.0	57.0	NM_031281	A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	Missense_Mutation	SNP	ENST00000361835.3	hg19	CCDS1165.1	.	.	.	.	.	.	.	.	.	.	T	12.44	1.939090	0.34189	.	.	ENSG00000143297	ENST00000361835;ENST00000356953;ENST00000368190;ENST00000368191;ENST00000368189	T;T;T;T;T	0.55588	0.52;0.51;0.54;2.82;0.88	4.17	1.79	0.24919	Immunoglobulin-like fold (1);	.	.	.	.	T	0.49321	0.1550	M	0.79614	2.46	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;0.989;1.0;0.991	D;D;P;D;D	0.77557	0.988;0.979;0.659;0.99;0.937	T	0.55970	-0.8056	9	0.14252	T	0.57	.	4.3263	0.11041	0.1759:0.1008:0.0:0.7232	.	102;187;187;187;187	F5GXJ2;Q96RD9-3;A6NJE8;Q96RD9-4;Q96RD9	.;.;.;.;FCRL5_HUMAN	G	187;187;187;102;187	ENSP00000354691:E187G;ENSP00000349434:E187G;ENSP00000357173:E187G;ENSP00000357174:E102G;ENSP00000357172:E187G	ENSP00000349434:E187G	E	-	2	0	FCRL5	155780960	0.872000	0.30054	0.395000	0.26283	0.075000	0.17131	1.069000	0.30641	0.171000	0.19730	0.383000	0.25322	GAG	.	.		0.527	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046263.1	NM_031281	Missense_Mutation
MAEL	84944	hgsc.bcm.edu	37	1	166958707	166958707	+	Missense_Mutation	SNP	T	T	C			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr1:166958707T>C	ENST00000367872.4	+	1	362	c.118T>C	c.(118-120)Tcc>Ccc	p.S40P	MAEL_ENST00000367870.2_Missense_Mutation_p.S40P	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer	40					cell differentiation (GO:0030154)|cell morphogenesis (GO:0000902)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|male meiosis (GO:0007140)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|piRNA metabolic process (GO:0034587)|regulation of organ growth (GO:0046620)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	autosome (GO:0030849)|chromatin (GO:0000785)|chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|P granule (GO:0043186)|perinuclear region of cytoplasm (GO:0048471)|piP-body (GO:0071547)|XY body (GO:0001741)	DNA binding (GO:0003677)			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						CCCTTACTGCTCCTCAGACTG	0.637																																					p.S40P		Atlas-SNP	.											.	MAEL	95	.	0			c.T118C						.						37.0	33.0	34.0					1																	166958707		2201	4296	6497	SO:0001583	missense	84944	exon1			TACTGCTCCTCAG	AK027810, DQ076156	CCDS1257.1, CCDS65712.1, CCDS72975.1	1q24.1	2013-10-11	2012-12-18		ENSG00000143194	ENSG00000143194			25929	protein-coding gene	gene with protein product	"""cancer/testis antigen 128"", ""spermatogenesis associated 35"""	611368	"""maelstrom homolog (Drosophila)"""			19693694, 18694567	Standard	NM_001286378		Approved	FLJ14904, CT128, SPATA35	uc001gdy.1	Q96JY0	OTTHUMG00000034432	ENST00000367872.4:c.118T>C	chr1.hg19:g.166958707T>C	ENSP00000356846:p.Ser40Pro	62.0	0.0		120.0	7.0	NM_032858	B4DY43|E9JVC3|Q49AP9|Q5VZP8|Q9UIW6	Missense_Mutation	SNP	ENST00000367872.4	hg19	CCDS1257.1	.	.	.	.	.	.	.	.	.	.	T	16.40	3.112171	0.56398	.	.	ENSG00000143194	ENST00000367872;ENST00000367870;ENST00000447624	T;T;T	0.24538	1.85;1.85;1.85	5.49	5.49	0.81192	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (1);Domain of unknown function DUF1898 (1);	0.213636	0.33610	N	0.004731	T	0.25419	0.0618	N	0.19112	0.55	0.58432	D	0.999992	D;D	0.76494	0.999;0.999	D;D	0.71870	0.966;0.975	T	0.09930	-1.0652	10	0.56958	D	0.05	.	14.7155	0.69265	0.0:0.0:0.0:1.0	.	40;40	E9JVC3;Q96JY0	.;MAEL_HUMAN	P	40	ENSP00000356846:S40P;ENSP00000356844:S40P;ENSP00000402143:S40P	ENSP00000356844:S40P	S	+	1	0	MAEL	165225331	1.000000	0.71417	0.995000	0.50966	0.197000	0.23852	2.552000	0.45828	2.311000	0.77944	0.533000	0.62120	TCC	.	.		0.637	MAEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083239.1	NM_032858	
FMO3	2328	hgsc.bcm.edu	37	1	171072961	171072961	+	Silent	SNP	A	A	G			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr1:171072961A>G	ENST00000367755.4	+	3	279	c.168A>G	c.(166-168)aaA>aaG	p.K56K	FMO3_ENST00000538429.1_Intron|MIR1295A_ENST00000408463.1_RNA|FMO3_ENST00000542847.1_Silent_p.K36K|FMO3_ENST00000392085.2_Silent_p.K56K	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	56					drug metabolic process (GO:0017144)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	amino acid binding (GO:0016597)|flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)|trimethylamine monooxygenase activity (GO:0034899)			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)				Almotriptan(DB00918)|Cimetidine(DB00501)|Clozapine(DB00363)|Dapsone(DB00250)|Dasatinib(DB01254)|Olanzapine(DB00334)|Tamoxifen(DB00675)|Vandetanib(DB05294)|Voriconazole(DB00582)	GCATTTACAAATCAGTCTTTT	0.438																																					p.K56K		Atlas-SNP	.											.	FMO3	73	.	0			c.A168G						.						169.0	165.0	167.0					1																	171072961		2203	4300	6503	SO:0001819	synonymous_variant	2328	exon3			TTACAAATCAGTC	BC032016	CCDS1292.1	1q24.3	2013-10-01			ENSG00000007933	ENSG00000007933	2.6.1.16		3771	protein-coding gene	gene with protein product		136132				8486388, 9417913	Standard	NM_001002294		Approved		uc001ghh.3	P31513	OTTHUMG00000035505	ENST00000367755.4:c.168A>G	chr1.hg19:g.171072961A>G		169.0	0.0		288.0	153.0	NM_006894	B2R816|Q14854|Q8N5N5	Silent	SNP	ENST00000367755.4	hg19	CCDS1292.1																																																																																			.	.		0.438	FMO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086219.1	NM_006894	
PRRC2C	23215	hgsc.bcm.edu	37	1	171511217	171511217	+	Missense_Mutation	SNP	A	A	G			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr1:171511217A>G	ENST00000338920.4	+	16	4843	c.4606A>G	c.(4606-4608)Agg>Ggg	p.R1536G	PRRC2C_ENST00000426496.2_Missense_Mutation_p.R1536G|PRRC2C_ENST00000367742.3_Missense_Mutation_p.R1538G|PRRC2C_ENST00000392078.3_Missense_Mutation_p.R1538G	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	1536					hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)										ACCTCCAAAGAGGGAAATTGC	0.423																																					p.R1536G		Atlas-SNP	.											.	.	.	.	0			c.A4606G						.						52.0	54.0	54.0					1																	171511217		2203	4300	6503	SO:0001583	missense	23215	exon16			CCAAAGAGGGAAA	AL096857	CCDS1296.2	1q24.3	2012-07-18	2010-12-09	2010-12-09	ENSG00000117523	ENSG00000117523			24903	protein-coding gene	gene with protein product			"""BAT2 domain containing 1"", ""HLA-B associated transcript 2-like 2"""	BAT2D1, BAT2L2		10470851, 12443540	Standard	NM_015172		Approved	KIAA1096, XTP2	uc010pmg.2	Q9Y520	OTTHUMG00000034665	ENST00000338920.4:c.4606A>G	chr1.hg19:g.171511217A>G	ENSP00000343629:p.Arg1536Gly	65.0	0.0		96.0	4.0	NM_015172	Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Missense_Mutation	SNP	ENST00000338920.4	hg19	CCDS1296.2	.	.	.	.	.	.	.	.	.	.	A	6.726	0.502601	0.12822	.	.	ENSG00000117523	ENST00000392078;ENST00000451306;ENST00000426496;ENST00000367742;ENST00000338920;ENST00000392080	T;T;T;T	0.03496	3.92;3.91;3.91;3.92	5.87	3.5	0.40072	.	0.000000	0.52532	D	0.000079	T	0.08447	0.0210	M	0.73962	2.25	0.52501	D	0.999956	D	0.89917	1.0	D	0.85130	0.997	T	0.01266	-1.1401	10	0.87932	D	0	.	9.3876	0.38352	0.7512:0.1275:0.0:0.1213	.	1536	Q9Y520-4	.	G	1538;1537;1536;1538;1536;1293	ENSP00000375928:R1538G;ENSP00000410219:R1536G;ENSP00000356716:R1538G;ENSP00000343629:R1536G	ENSP00000343629:R1536G	R	+	1	2	PRRC2C	169777841	1.000000	0.71417	0.977000	0.42913	0.797000	0.45037	2.109000	0.41863	0.451000	0.26802	-0.320000	0.08662	AGG	.	.		0.423	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000314826.4	NM_015172	
SUCO	51430	hgsc.bcm.edu	37	1	172525148	172525148	+	Missense_Mutation	SNP	C	C	T			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr1:172525148C>T	ENST00000263688.3	+	4	647	c.428C>T	c.(427-429)cCa>cTa	p.P143L	SUCO_ENST00000367723.4_Missense_Mutation_p.P301L|SUCO_ENST00000608151.1_Missense_Mutation_p.P302L|SUCO_ENST00000610051.1_Missense_Mutation_p.P106L	NM_014283.3	NP_055098.1	Q9UBS9	SUCO_HUMAN	SUN domain containing ossification factor	143					multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of bone remodeling (GO:0046850)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)											GAAATCACTCCAATCTCAAAG	0.348																																					p.P143L		Atlas-SNP	.											.	.	.	.	0			c.C428T						.						60.0	56.0	58.0					1																	172525148		2203	4299	6502	SO:0001583	missense	51430	exon4			TCACTCCAATCTC	AF097535	CCDS1303.1, CCDS65726.1, CCDS65727.1, CCDS72984.1	1q24	2012-07-10	2012-07-10	2012-07-10	ENSG00000094975	ENSG00000094975			1240	protein-coding gene	gene with protein product	"""SUN-like protein 1"", ""osteopotentia"""		"""chromosome 1 open reading frame 9"""	C1orf9		10673381, 20440000	Standard	NM_001282750		Approved	CH1, SLP1, OPT	uc001giq.4	Q9UBS9	OTTHUMG00000034839	ENST00000263688.3:c.428C>T	chr1.hg19:g.172525148C>T	ENSP00000263688:p.Pro143Leu	54.0	0.0		96.0	4.0	NM_014283	B2RNU4|Q9BQB9|Q9BXQ2|Q9UL04	Missense_Mutation	SNP	ENST00000263688.3	hg19	CCDS1303.1	.	.	.	.	.	.	.	.	.	.	C	14.99	2.701198	0.48307	.	.	ENSG00000094975	ENST00000367723;ENST00000263688	.	.	.	5.76	4.83	0.62350	.	0.145724	0.48767	D	0.000164	T	0.28896	0.0717	L	0.32530	0.975	0.49213	D	0.999767	B;B;B;B	0.31318	0.319;0.005;0.012;0.005	B;B;B;B	0.26517	0.07;0.006;0.006;0.003	T	0.13124	-1.0521	9	0.28530	T	0.3	-5.8702	14.095	0.65016	0.1517:0.8482:0.0:0.0	.	106;143;302;143	B4DYM4;B4DZJ3;Q5H945;Q9UBS9	.;.;.;OSPT_HUMAN	L	302;143	.	ENSP00000263688:P143L	P	+	2	0	C1orf9	170791771	1.000000	0.71417	0.951000	0.38953	0.991000	0.79684	3.746000	0.55127	1.527000	0.49086	0.655000	0.94253	CCA	.	.		0.348	SUCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084273.1	NM_016227	
TNR	7143	hgsc.bcm.edu	37	1	175348689	175348689	+	Splice_Site	SNP	T	T	C			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr1:175348689T>C	ENST00000367674.2	-	9	2670	c.1962A>G	c.(1960-1962)acA>acG	p.T654T	TNR_ENST00000263525.2_Splice_Site_p.T654T			Q92752	TENR_HUMAN	tenascin R	654	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CTTACTCACCTGTCAGGGTGG	0.532																																					p.T654T		Atlas-SNP	.											.	TNR	399	.	0			c.A1962G						.						75.0	68.0	71.0					1																	175348689		2203	4300	6503	SO:0001630	splice_region_variant	7143	exon9			CTCACCTGTCAGG	X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.1963+1A>G	chr1.hg19:g.175348689T>C		95.0	0.0		169.0	24.0	NM_003285	C9J563|Q15568|Q5R3G0	Silent	SNP	ENST00000367674.2	hg19	CCDS1318.1																																																																																			.	.		0.532	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285	Silent
AXDND1	126859	hgsc.bcm.edu	37	1	179504037	179504037	+	Missense_Mutation	SNP	G	G	C	rs200097954|rs368406759|rs6425573	byFrequency	TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr1:179504037G>C	ENST00000367618.3	+	25	3358	c.2971G>C	c.(2971-2973)Gaa>Caa	p.E991Q		NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	991	Glu-rich.		E -> Q (in dbSNP:rs6425573).					p.E991_Q992delEQ(1)		NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						agaagaagaagaacaacaaga	0.318													G|||	14	0.00279553	0.0	0.0058	5008	,	,		17137	0.002		0.004	False		,,,				2504	0.0041				p.E991Q		Atlas-SNP	.											.	AXDND1	142	.	1	Deletion - In frame(1)	haematopoietic_and_lymphoid_tissue(1)	c.G2971C						.						49.0	51.0	50.0					1																	179504037		2152	4286	6438	SO:0001583	missense	126859	exon25			GAAGAAGAACAAC	BX647935	CCDS30948.1	1q25.2	2011-02-18	2011-02-18	2011-02-18	ENSG00000162779	ENSG00000162779			26564	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 125"""	C1orf125		14702039	Standard	NM_144696		Approved	FLJ32940	uc001gmo.3	Q5T1B0	OTTHUMG00000035266	ENST00000367618.3:c.2971G>C	chr1.hg19:g.179504037G>C	ENSP00000356590:p.Glu991Gln	193.0	0.0		242.0	10.0	NM_144696	Q6AWB2|Q96LJ3|Q96M01	Missense_Mutation	SNP	ENST00000367618.3	hg19	CCDS30948.1	.	.	.	.	.	.	.	.	.	.	G	9.300	1.052898	0.19907	.	.	ENSG00000162779	ENST00000367618;ENST00000360322;ENST00000434088	T;T	0.19105	2.17;2.17	4.89	-6.02	0.02192	.	0.508747	0.16499	N	0.211773	T	0.08980	0.0222	N	0.24115	0.695	0.09310	N	1	B;B	0.24186	0.099;0.099	B;B	0.10450	0.003;0.005	T	0.15838	-1.0423	10	0.28530	T	0.3	-2.8152	6.1976	0.20557	0.4456:0.3814:0.173:0.0	rs6425573	875;991	E9PCJ4;Q5T1B0	.;AXDN1_HUMAN	Q	991;875;851	ENSP00000356590:E991Q;ENSP00000391716:E851Q	ENSP00000353471:E875Q	E	+	1	0	AXDND1	177770660	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.365000	0.20348	-1.164000	0.02790	-1.047000	0.02352	GAA	.	G|1.000;|0.000		0.318	AXDND1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085312.1	NM_144696	
CACNA1E	777	hgsc.bcm.edu	37	1	181765974	181765974	+	Missense_Mutation	SNP	T	T	C			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr1:181765974T>C	ENST00000367573.2	+	47	6379	c.6379T>C	c.(6379-6381)Tca>Cca	p.S2127P	CACNA1E_ENST00000367567.4_Missense_Mutation_p.S1691P|CACNA1E_ENST00000358338.5_Missense_Mutation_p.S2016P|CACNA1E_ENST00000367570.1_Missense_Mutation_p.S2084P|CACNA1E_ENST00000357570.5_Missense_Mutation_p.S2078P|CACNA1E_ENST00000360108.3_Missense_Mutation_p.S2108P|CACNA1E_ENST00000526775.1_Missense_Mutation_p.S2065P	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	2127					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TGAGGGCAGGTCACAGACGCC	0.592																																					p.S2127P		Atlas-SNP	.											.	CACNA1E	778	.	0			c.T6379C						.						19.0	21.0	21.0					1																	181765974		2056	4189	6245	SO:0001583	missense	777	exon47			GGCAGGTCACAGA	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.6379T>C	chr1.hg19:g.181765974T>C	ENSP00000356545:p.Ser2127Pro	110.0	0.0		171.0	7.0	NM_001205293	B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	hg19	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	T	19.07	3.755297	0.69648	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.96265	-3.89;-3.89;-3.92;-3.89;-3.96;-3.92;-3.92	5.91	4.72	0.59763	.	0.636360	0.16141	N	0.227721	D	0.95249	0.8459	N	0.19112	0.55	0.38251	D	0.941591	D;P	0.71674	0.998;0.664	P;B	0.62649	0.905;0.277	D	0.94970	0.8116	10	0.51188	T	0.08	.	11.3122	0.49370	0.0:0.0:0.1518:0.8482	.	2065;2084	Q15878-2;Q15878-3	.;.	P	2084;2065;2078;2016;1691;2108;2127	ENSP00000356542:S2084P;ENSP00000434814:S2065P;ENSP00000350183:S2078P;ENSP00000351101:S2016P;ENSP00000356539:S1691P;ENSP00000353222:S2108P;ENSP00000356545:S2127P	ENSP00000350183:S2078P	S	+	1	0	CACNA1E	180032597	0.993000	0.37304	1.000000	0.80357	0.988000	0.76386	1.920000	0.40025	2.254000	0.74563	0.533000	0.62120	TCA	.	.		0.592	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721	
LAMC2	3918	hgsc.bcm.edu	37	1	183192335	183192335	+	Missense_Mutation	SNP	A	A	G			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr1:183192335A>G	ENST00000264144.4	+	7	894	c.829A>G	c.(829-831)Aga>Gga	p.R277G	LAMC2_ENST00000493293.1_Missense_Mutation_p.R277G	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	277	Laminin IV type A. {ECO:0000255|PROSITE- ProRule:PRU00458}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	cell cortex (GO:0005938)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-2 complex (GO:0005607)|laminin-5 complex (GO:0005610)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	heparin binding (GO:0008201)			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						CCGTGTGGACAGAGGAGGCAG	0.488																																					p.R277G		Atlas-SNP	.											.	LAMC2	113	.	0			c.A829G						.						113.0	109.0	110.0					1																	183192335		2203	4300	6503	SO:0001583	missense	3918	exon7			GTGGACAGAGGAG	Z15008	CCDS1352.1, CCDS44285.1	1q25-q31	2013-03-01	2002-08-29		ENSG00000058085	ENSG00000058085		"""Laminins"""	6493	protein-coding gene	gene with protein product		150292	"""laminin, gamma 2 (nicein (100kD), kalinin (105kD), BM600 (100kD), Herlitz junctional epidermolysis bullosa))"""	EBR2, LAMB2T, LAMNB2, EBR2A		1383240	Standard	NM_005562		Approved	nicein-100kDa, kalinin-105kDa, BM600-100kDa	uc001gqa.2	Q13753	OTTHUMG00000035520	ENST00000264144.4:c.829A>G	chr1.hg19:g.183192335A>G	ENSP00000264144:p.Arg277Gly	159.0	0.0		200.0	8.0	NM_005562	Q02536|Q02537|Q13752|Q14941|Q14DF7|Q2M1N2|Q5VYE8	Missense_Mutation	SNP	ENST00000264144.4	hg19	CCDS1352.1	.	.	.	.	.	.	.	.	.	.	A	19.75	3.886051	0.72410	.	.	ENSG00000058085	ENST00000493293;ENST00000537180;ENST00000264144	T;T	0.34072	1.38;1.38	5.0	1.26	0.21427	Laminin B type IV (2);Laminin B, subgroup (1);Growth factor, receptor (1);	0.000000	0.64402	D	0.000001	T	0.47930	0.1472	L	0.40543	1.245	0.51233	D	0.999912	D;D	0.89917	1.0;1.0	D;D	0.87578	0.99;0.998	T	0.32402	-0.9908	10	0.38643	T	0.18	.	14.284	0.66232	0.2784:0.7216:0.0:0.0	.	277;277	Q13753;Q13753-2	LAMC2_HUMAN;.	G	277	ENSP00000432063:R277G;ENSP00000264144:R277G	ENSP00000264144:R277G	R	+	1	2	LAMC2	181458958	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.028000	0.30128	0.222000	0.20900	0.459000	0.35465	AGA	.	.		0.488	LAMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086258.1	NM_005562	
IVNS1ABP	10625	hgsc.bcm.edu	37	1	185267396	185267396	+	Missense_Mutation	SNP	A	A	T			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr1:185267396A>T	ENST00000367498.3	-	15	2322	c.1700T>A	c.(1699-1701)tTt>tAt	p.F567Y	IVNS1ABP_ENST00000459929.1_5'UTR|IVNS1ABP_ENST00000392007.3_Missense_Mutation_p.F349Y	NM_006469.4	NP_006460.2	Q9Y6Y0	NS1BP_HUMAN	influenza virus NS1A binding protein	567					negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|response to virus (GO:0009615)|RNA splicing (GO:0008380)|transcription from RNA polymerase III promoter (GO:0006383)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|spliceosomal complex (GO:0005681)|transcription factor complex (GO:0005667)				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2)	29						AGAACCATCAAAGCCACCACA	0.388																																					p.F567Y		Atlas-SNP	.											.	IVNS1ABP	80	.	0			c.T1700A						.						124.0	108.0	114.0					1																	185267396		2203	4300	6503	SO:0001583	missense	10625	exon15			CCATCAAAGCCAC	AB020657	CCDS1368.1	1q25.1-q31.1	2013-01-30			ENSG00000116679	ENSG00000116679		"""Kelch-like"", ""BTB/POZ domain containing"""	16951	protein-coding gene	gene with protein product	"""kelch-like family member 39"""	609209				9696811, 10048485	Standard	NM_006469		Approved	NS1-BP, HSPC068, NS-1, KIAA0850, ND1, KLHL39	uc001grl.3	Q9Y6Y0	OTTHUMG00000035384	ENST00000367498.3:c.1700T>A	chr1.hg19:g.185267396A>T	ENSP00000356468:p.Phe567Tyr	153.0	0.0		170.0	97.0	NM_006469	A8K8R6|Q1G4T6|Q1G4T7|Q5TF75|Q6NW38|Q7LCG2|Q9NZX0|Q9Y480	Missense_Mutation	SNP	ENST00000367498.3	hg19	CCDS1368.1	.	.	.	.	.	.	.	.	.	.	A	15.07	2.724863	0.48833	.	.	ENSG00000116679	ENST00000367498;ENST00000392007	T;T	0.76839	-1.05;-1.05	5.38	5.38	0.77491	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	T	0.63570	0.2522	N	0.11106	0.095	0.80722	D	1	B;P	0.40398	0.397;0.716	B;B	0.42319	0.093;0.383	T	0.63225	-0.6685	10	0.16420	T	0.52	.	15.6903	0.77446	1.0:0.0:0.0:0.0	.	349;567	A8MVR0;Q9Y6Y0	.;NS1BP_HUMAN	Y	567;349	ENSP00000356468:F567Y;ENSP00000375864:F349Y	ENSP00000356468:F567Y	F	-	2	0	IVNS1ABP	183534019	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.118000	0.94355	2.163000	0.67991	0.460000	0.39030	TTT	.	.		0.388	IVNS1ABP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085774.1	NM_006469	
IVNS1ABP	10625	hgsc.bcm.edu	37	1	185267406	185267406	+	Missense_Mutation	SNP	A	A	C			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr1:185267406A>C	ENST00000367498.3	-	15	2312	c.1690T>G	c.(1690-1692)Tgt>Ggt	p.C564G	IVNS1ABP_ENST00000459929.1_5'UTR|IVNS1ABP_ENST00000392007.3_Missense_Mutation_p.C346G	NM_006469.4	NP_006460.2	Q9Y6Y0	NS1BP_HUMAN	influenza virus NS1A binding protein	564					negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|response to virus (GO:0009615)|RNA splicing (GO:0008380)|transcription from RNA polymerase III promoter (GO:0006383)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|spliceosomal complex (GO:0005681)|transcription factor complex (GO:0005667)				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2)	29						AAGCCACCACATACAAACAGT	0.368																																					p.C564G		Atlas-SNP	.											.	IVNS1ABP	80	.	0			c.T1690G						.						102.0	90.0	94.0					1																	185267406		2203	4300	6503	SO:0001583	missense	10625	exon15			CACCACATACAAA	AB020657	CCDS1368.1	1q25.1-q31.1	2013-01-30			ENSG00000116679	ENSG00000116679		"""Kelch-like"", ""BTB/POZ domain containing"""	16951	protein-coding gene	gene with protein product	"""kelch-like family member 39"""	609209				9696811, 10048485	Standard	NM_006469		Approved	NS1-BP, HSPC068, NS-1, KIAA0850, ND1, KLHL39	uc001grl.3	Q9Y6Y0	OTTHUMG00000035384	ENST00000367498.3:c.1690T>G	chr1.hg19:g.185267406A>C	ENSP00000356468:p.Cys564Gly	140.0	0.0		141.0	81.0	NM_006469	A8K8R6|Q1G4T6|Q1G4T7|Q5TF75|Q6NW38|Q7LCG2|Q9NZX0|Q9Y480	Missense_Mutation	SNP	ENST00000367498.3	hg19	CCDS1368.1	.	.	.	.	.	.	.	.	.	.	A	11.59	1.683858	0.29872	.	.	ENSG00000116679	ENST00000367498;ENST00000392007	T;T	0.78003	-1.14;-1.14	5.38	4.46	0.54185	Galactose oxidase, beta-propeller (1);	0.103773	0.64402	N	0.000004	T	0.77246	0.4102	M	0.73430	2.235	0.35887	D	0.82936	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.78021	-0.2367	10	0.36615	T	0.2	.	15.527	0.75919	0.1446:0.8554:0.0:0.0	.	346;564	A8MVR0;Q9Y6Y0	.;NS1BP_HUMAN	G	564;346	ENSP00000356468:C564G;ENSP00000375864:C346G	ENSP00000356468:C564G	C	-	1	0	IVNS1ABP	183534029	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.809000	0.62591	1.375000	0.46248	-0.445000	0.05633	TGT	.	.		0.368	IVNS1ABP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085774.1	NM_006469	
BRINP3	339479	hgsc.bcm.edu	37	1	190067205	190067205	+	Silent	SNP	C	C	T	rs562180986		TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr1:190067205C>T	ENST00000367462.3	-	8	2475	c.2244G>A	c.(2242-2244)gcG>gcA	p.A748A	BRINP3_ENST00000534846.1_Silent_p.A646A	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	748					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)											TGGCATTAAACGCCTGCAGAG	0.423																																					p.A748A		Atlas-SNP	.											.	FAM5C	343	.	0			c.G2244A						.						141.0	138.0	139.0					1																	190067205		2203	4300	6503	SO:0001819	synonymous_variant	339479	exon8			ATTAAACGCCTGC	AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member C"""	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.2244G>A	chr1.hg19:g.190067205C>T		131.0	0.0		192.0	24.0	NM_199051	B3KVP1|B7Z260|O95726|Q2M330	Silent	SNP	ENST00000367462.3	hg19	CCDS1373.1																																																																																			.	.		0.423	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051	
LAD1	3898	hgsc.bcm.edu	37	1	201356005	201356005	+	Missense_Mutation	SNP	C	C	A	rs552300739|rs386638482	byFrequency	TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr1:201356005C>A	ENST00000391967.2	-	3	785	c.484G>T	c.(484-486)Gtg>Ttg	p.V162L	LAD1_ENST00000367313.3_Missense_Mutation_p.V176L	NM_005558.3	NP_005549.2	O00515	LAD1_HUMAN	ladinin 1	162						basement membrane (GO:0005604)	structural molecule activity (GO:0005198)	p.V162M(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						TCCCTGCCCACCAAGCTCTCC	0.582																																					p.V162L		Atlas-SNP	.											LAD1,trunk,malignant_melanoma,0,1	LAD1	42	.	1	Substitution - Missense(1)	skin(1)	c.G484T						.						45.0	57.0	53.0					1																	201356005		2193	4299	6492	SO:0001583	missense	3898	exon3			TGCCCACCAAGCT	U42408	CCDS1410.1	1q25.1-q32.3	2008-02-05			ENSG00000159166	ENSG00000159166			6472	protein-coding gene	gene with protein product		602314				8618013, 9119369	Standard	NM_005558		Approved		uc001gwm.3	O00515	OTTHUMG00000035737	ENST00000391967.2:c.484G>T	chr1.hg19:g.201356005C>A	ENSP00000375829:p.Val162Leu	75.0	0.0		55.0	3.0	NM_005558	O95614|Q96GD8	Missense_Mutation	SNP	ENST00000391967.2	hg19	CCDS1410.1	.	.	.	.	.	.	.	.	.	.	C	9.310	1.055294	0.19907	.	.	ENSG00000159166	ENST00000391967;ENST00000367313	T;T	0.11930	2.74;2.73	5.3	2.34	0.29019	.	1.710450	0.02842	N	0.128020	T	0.09247	0.0228	N	0.08118	0	0.09310	N	1	B;B	0.15141	0.001;0.012	B;B	0.15484	0.003;0.013	T	0.36016	-0.9765	10	0.28530	T	0.3	-0.7378	9.7698	0.40582	0.0:0.8029:0.0:0.1971	.	176;162	E9PDI4;O00515	.;LAD1_HUMAN	L	162;176	ENSP00000375829:V162L;ENSP00000356282:V176L	ENSP00000356282:V176L	V	-	1	0	LAD1	199622628	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.268000	0.18571	0.197000	0.20387	-1.063000	0.02288	GTG	.	.		0.582	LAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086946.1	NM_005558	
DISP1	84976	hgsc.bcm.edu	37	1	223179204	223179204	+	Missense_Mutation	SNP	G	G	C			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr1:223179204G>C	ENST00000284476.6	+	8	4629	c.4465G>C	c.(4465-4467)Gtg>Ctg	p.V1489L		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	1489					determination of left/right symmetry (GO:0007368)|diaphragm development (GO:0060539)|dorsal/ventral pattern formation (GO:0009953)|embryonic pattern specification (GO:0009880)|patched ligand maturation (GO:0007225)|peptide transport (GO:0015833)|protein homotrimerization (GO:0070207)|regulation of protein secretion (GO:0050708)|smoothened signaling pathway (GO:0007224)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)|peptide transporter activity (GO:0015197)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		AATTGTGAGAGTGAAGTGCAA	0.398																																					p.V1489L		Atlas-SNP	.											.	DISP1	145	.	0			c.G4465C						.						64.0	61.0	62.0					1																	223179204		2203	4300	6503	SO:0001583	missense	84976	exon10			GTGAGAGTGAAGT	AK056569	CCDS1536.1	1q42.12	2008-02-05			ENSG00000154309	ENSG00000154309			19711	protein-coding gene	gene with protein product		607502				10619433	Standard	NM_032890		Approved	DISPA, MGC13130, DKFZP434I0428, MGC16796	uc001hnu.2	Q96F81	OTTHUMG00000037893	ENST00000284476.6:c.4465G>C	chr1.hg19:g.223179204G>C	ENSP00000284476:p.Val1489Leu	215.0	0.0		290.0	43.0	NM_032890	Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	Missense_Mutation	SNP	ENST00000284476.6	hg19	CCDS1536.1	.	.	.	.	.	.	.	.	.	.	G	10.27	1.304313	0.23736	.	.	ENSG00000154309	ENST00000284476	D	0.91686	-2.89	5.42	1.42	0.22433	.	0.763320	0.11881	N	0.520513	D	0.82857	0.5128	N	0.24115	0.695	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.69756	-0.5059	10	0.41790	T	0.15	-7.6849	3.09	0.06290	0.2012:0.1229:0.5493:0.1266	.	1489	Q96F81	DISP1_HUMAN	L	1489	ENSP00000284476:V1489L	ENSP00000284476:V1489L	V	+	1	0	DISP1	221245827	1.000000	0.71417	0.128000	0.21923	0.956000	0.61745	0.721000	0.25911	0.248000	0.21435	-0.137000	0.14449	GTG	.	.		0.398	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092512.1	NM_032890	
GUK1	2987	hgsc.bcm.edu	37	1	228336428	228336428	+	3'UTR	SNP	C	C	A			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr1:228336428C>A	ENST00000366718.1	+	0	1051				GUK1_ENST00000312726.4_3'UTR|GUK1_ENST00000366716.1_3'UTR|GUK1_ENST00000470040.1_3'UTR|GUK1_ENST00000366723.1_3'UTR|GUK1_ENST00000366721.1_3'UTR|GUK1_ENST00000391865.3_3'UTR|GUK1_ENST00000366730.1_3'UTR|GUK1_ENST00000366722.1_Missense_Mutation_p.A234D|GJC2_ENST00000366714.2_5'Flank|GUK1_ENST00000366726.1_3'UTR|GUK1_ENST00000366728.2_Missense_Mutation_p.P201T	NM_001159391.1	NP_001152863.1	Q16774	KGUA_HUMAN	guanylate kinase 1						ATP metabolic process (GO:0046034)|dATP metabolic process (GO:0046060)|dGDP biosynthetic process (GO:0006185)|dGMP metabolic process (GO:0046054)|drug metabolic process (GO:0017144)|GDP biosynthetic process (GO:0046711)|GDP-mannose metabolic process (GO:0019673)|glycoprotein transport (GO:0034436)|GMP metabolic process (GO:0046037)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleotide metabolic process (GO:0006163)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)			endometrium(2)|lung(5)|prostate(1)|soft_tissue(1)	9		Prostate(94;0.0405)				GCACCCCGGGCCCATACAGGA	0.617																																					p.P201T		Atlas-SNP	.											.	GUK1	34	.	0			c.C601A						.						35.0	33.0	34.0					1																	228336428		2203	4300	6503	SO:0001624	3_prime_UTR_variant	2987	exon7			CCCGGGCCCATAC	BC006249	CCDS1568.1, CCDS53481.1, CCDS55689.1	1q32-q41	2012-10-02			ENSG00000143774	ENSG00000143774	2.7.4.8		4693	protein-coding gene	gene with protein product		139270				8647247	Standard	NM_000858		Approved		uc021pkf.1	Q16774	OTTHUMG00000039503	ENST00000366718.1:c.*30C>A	chr1.hg19:g.228336428C>A		45.0	0.0		80.0	26.0	NM_001242840	B1ANH1	Missense_Mutation	SNP	ENST00000366718.1	hg19	CCDS1568.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	14.16|14.16	2.453364|2.453364	0.43531|0.43531	.|.	.|.	ENSG00000143774|ENSG00000143774	ENST00000366722|ENST00000366728;ENST00000435153	T|.	0.35605|.	1.3|.	3.41|3.41	-3.0|-3.0	0.05480|0.05480	.|.	.|.	.|.	.|.	.|.	T|T	0.18718|0.18718	0.0449|0.0449	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	0.999999|0.999999	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.27806|0.27806	-1.0063|-1.0063	7|6	0.87932|0.49607	D|T	0|0.09	.|.	8.3326|8.3326	0.32195|0.32195	0.0:0.3716:0.0:0.6284|0.0:0.3716:0.0:0.6284	.|.	.|.	.|.	.|.	D|T	234|201;246	ENSP00000355683:A234D|.	ENSP00000355683:A234D|ENSP00000355689:P201T	A|P	+|+	2|1	0|0	GUK1|GUK1	226403051|226403051	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.005000|0.005000	0.04900|0.04900	-0.899000|-0.899000	0.04101|0.04101	-0.889000|-0.889000	0.03950|0.03950	-0.461000|-0.461000	0.05368|0.05368	GCC|CCC	.	.		0.617	GUK1-021	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000095944.1	NM_000858	
OBSCN	84033	hgsc.bcm.edu	37	1	228564922	228564922	+	Missense_Mutation	SNP	A	A	G			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr1:228564922A>G	ENST00000422127.1	+	101	23253	c.23209A>G	c.(23209-23211)Agc>Ggc	p.S7737G	OBSCN_ENST00000366707.4_Missense_Mutation_p.S5371G|OBSCN_ENST00000570156.2_Missense_Mutation_p.S8694G	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	7737	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGCCTACCTCAGCCCCCGGCA	0.687																																					p.S8694G		Atlas-SNP	.											.	OBSCN	2142	.	0			c.A26080G						.						11.0	15.0	14.0					1																	228564922		2032	4173	6205	SO:0001583	missense	84033	exon112			TACCTCAGCCCCC	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.23209A>G	chr1.hg19:g.228564922A>G	ENSP00000409493:p.Ser7737Gly	34.0	0.0		79.0	4.0	NM_001271223	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	hg19	CCDS58065.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.3|24.3	4.516749|4.516749	0.85495|0.85495	.|.	.|.	ENSG00000154358|ENSG00000154358	ENST00000441106|ENST00000422127;ENST00000366707	.|T;T	.|0.66460	.|-0.21;-0.21	4.82|4.82	4.82|4.82	0.62117|0.62117	.|Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|.	.|.	.|.	.|.	T|T	0.75874|0.75874	0.3909|0.3909	L|L	0.61218|0.61218	1.895|1.895	0.80722|0.80722	D|D	1|1	.|D	.|0.56968	.|0.978	.|P	.|0.57911	.|0.829	T|T	0.79412|0.79412	-0.1814|-0.1814	5|9	.|0.87932	.|D	.|0	.|.	14.3791|14.3791	0.66900|0.66900	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|7737	.|Q5VST9	.|OBSCN_HUMAN	R|G	2353|7737;5371	.|ENSP00000409493:S7737G;ENSP00000355668:S5371G	.|ENSP00000355668:S5371G	Q|S	+|+	2|1	0|0	OBSCN|OBSCN	226631545|226631545	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.817000|0.817000	0.46193|0.46193	7.336000|7.336000	0.79245|0.79245	1.816000|1.816000	0.52996|0.52996	0.260000|0.260000	0.18958|0.18958	CAG|AGC	.	.		0.687	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843	
OR2W3	343171	hgsc.bcm.edu	37	1	248059354	248059355	+	Missense_Mutation	DNP	TC	TC	AT	rs147816311	byFrequency	TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T|C	T|C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr1:248059354_248059355TC>AT	ENST00000360358.3	+	1	466_467	c.466_467TC>AT	c.(466-468)TCc>ATc	p.S156I	OR2W3_ENST00000537741.1_Missense_Mutation_p.S156I	NM_001001957.2	NP_001001957.2	Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	156						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S156F(1)		breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GGTGGCCAACTCCTTGGCCATG	0.639																																					p.S156T|p.S156F		Atlas-SNP	.											.|OR2W3,scalp,carcinoma,0,6	OR2W3	113	.	1	Substitution - Missense(1)	skin(1)	c.T466A|c.C467T						.																																			SO:0001583	missense	343171	exon1			GCCAACTCCTTGG|CCAACTCCTTGGC	N75737	CCDS31099.1	1q44	2012-08-09		2004-03-10	ENSG00000238243	ENSG00000238243		"""GPCR / Class A : Olfactory receptors"""	15021	protein-coding gene	gene with protein product				OR2W8P, OR2W3P		14983052	Standard	NM_001001957		Approved	OST718	uc010pzb.2	Q7Z3T1	OTTHUMG00000040204	Exception_encountered	chr1.hg19:g.248059354_248059355delinsAT	ENSP00000353516:p.Ser156Ile	126.0|123.0	0.0		152.0|145.0	11.0|16.0	NM_001001957	Q6IF06|Q8NG86	Missense_Mutation	SNP	ENST00000360358.3	hg19	CCDS31099.1																																																																																			.	.		0.639	OR2W3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096861.1	NM_001001957	
OR2T33	391195	hgsc.bcm.edu	37	1	248436937	248436937	+	Silent	SNP	G	G	T			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr1:248436937G>T	ENST00000318021.2	-	1	201	c.180C>A	c.(178-180)ctC>ctA	p.L60L		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	60						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GTTGGCTCAGGAGGAAGTACA	0.537																																					p.L60L		Atlas-SNP	.											.	OR2T33	133	.	0			c.C180A						.						83.0	75.0	77.0					1																	248436937		2202	4300	6502	SO:0001819	synonymous_variant	391195	exon1			GCTCAGGAGGAAG		CCDS31109.1	1q44	2012-08-09			ENSG00000177212	ENSG00000177212		"""GPCR / Class A : Olfactory receptors"""	31255	protein-coding gene	gene with protein product							Standard	NM_001004695		Approved		uc010pzi.2	Q8NG76	OTTHUMG00000040458	ENST00000318021.2:c.180C>A	chr1.hg19:g.248436937G>T		640.0	0.0		1030.0	456.0	NM_001004695	B2RNN0	Silent	SNP	ENST00000318021.2	hg19	CCDS31109.1																																																																																			.	.		0.537	OR2T33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097354.1	NM_001004695	
FAM150B	285016	hgsc.bcm.edu	37	2	286308	286308	+	Missense_Mutation	SNP	A	A	G			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr2:286308A>G	ENST00000403610.4	-	3	629	c.289T>C	c.(289-291)Ttt>Ctt	p.F97L	FAM150B_ENST00000344414.5_Missense_Mutation_p.F5L|FAM150B_ENST00000405290.1_Missense_Mutation_p.F5L|AC079779.4_ENST00000427831.1_RNA|FAM150B_ENST00000401503.1_Missense_Mutation_p.F5L	NM_001002919.2	NP_001002919.2	Q6UX46	F150B_HUMAN	family with sequence similarity 150, member B	97						extracellular region (GO:0005576)				breast(1)|kidney(2)	3	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.00175)|Lung NSC(108;0.216)|all_epithelial(98;0.236)		all cancers(51;0.00091)|Epithelial(75;0.00656)|OV - Ovarian serous cystadenocarcinoma(76;0.00954)|GBM - Glioblastoma multiforme(21;0.128)		TGTTTTAGAAACTTGTCCTTC	0.388																																					p.F97L		Atlas-SNP	.											.	FAM150B	12	.	0			c.T289C						.						117.0	121.0	120.0					2																	286308		1868	4096	5964	SO:0001583	missense	285016	exon3			TTAGAAACTTGTC		CCDS46218.1	2p25.3	2008-05-02			ENSG00000189292	ENSG00000189292			27683	protein-coding gene	gene with protein product							Standard	NM_001002919		Approved		uc002qwi.4	Q6UX46	OTTHUMG00000151366	ENST00000403610.4:c.289T>C	chr2.hg19:g.286308A>G	ENSP00000384604:p.Phe97Leu	134.0	0.0		110.0	5.0	NM_001002919	B5MC76	Missense_Mutation	SNP	ENST00000403610.4	hg19	CCDS46218.1	.	.	.	.	.	.	.	.	.	.	A	28.1	4.894894	0.91962	.	.	ENSG00000189292	ENST00000436353;ENST00000403610;ENST00000401503;ENST00000405290;ENST00000344414;ENST00000452023	.	.	.	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.77184	0.4093	M	0.73217	2.22	0.51482	D	0.999923	D	0.71674	0.998	D	0.76071	0.987	T	0.79727	-0.1682	9	0.87932	D	0	.	12.7401	0.57246	1.0:0.0:0.0:0.0	.	97	Q6UX46	F150B_HUMAN	L	37;97;5;5;5;97	.	ENSP00000339565:F5L	F	-	1	0	FAM150B	276308	1.000000	0.71417	0.994000	0.49952	0.958000	0.62258	7.629000	0.83207	2.254000	0.74563	0.533000	0.62120	TTT	.	.		0.388	FAM150B-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322394.2	NM_001002919	
GREB1	9687	hgsc.bcm.edu	37	2	11750977	11750977	+	Missense_Mutation	SNP	T	T	C			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr2:11750977T>C	ENST00000381486.2	+	18	3130	c.2830T>C	c.(2830-2832)Tgc>Cgc	p.C944R	GREB1_ENST00000234142.5_Missense_Mutation_p.C944R|GREB1_ENST00000396123.1_5'Flank	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	944						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)		GCAGTGCCCCTGCGGCCACGG	0.687																																					p.C944R	Ovarian(39;850 945 2785 23371 33093)	Atlas-SNP	.											.	GREB1	308	.	0			c.T2830C						.						32.0	36.0	35.0					2																	11750977		2056	4196	6252	SO:0001583	missense	9687	exon18			TGCCCCTGCGGCC		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.2830T>C	chr2.hg19:g.11750977T>C	ENSP00000370896:p.Cys944Arg	98.0	0.0		100.0	4.0	NM_014668	A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Missense_Mutation	SNP	ENST00000381486.2	hg19	CCDS42655.1	.	.	.	.	.	.	.	.	.	.	T	9.421	1.082948	0.20309	.	.	ENSG00000196208	ENST00000381486;ENST00000234142	T;T	0.45276	0.9;0.9	5.32	4.16	0.48862	.	0.313960	0.30869	N	0.008715	T	0.30759	0.0775	L	0.40543	1.245	0.47819	D	0.999521	P	0.49090	0.919	B	0.42422	0.387	T	0.07233	-1.0783	10	0.40728	T	0.16	-37.7755	4.4534	0.11631	0.2981:0.0987:0.0:0.6032	.	944	Q4ZG55	GREB1_HUMAN	R	944	ENSP00000370896:C944R;ENSP00000234142:C944R	ENSP00000234142:C944R	C	+	1	0	GREB1	11668428	0.531000	0.26338	1.000000	0.80357	0.977000	0.68977	0.952000	0.29149	0.843000	0.35070	0.460000	0.39030	TGC	.	.		0.687	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	NM_014668	
NBAS	51594	hgsc.bcm.edu	37	2	15614223	15614223	+	Missense_Mutation	SNP	A	A	G			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr2:15614223A>G	ENST00000281513.5	-	15	1592	c.1567T>C	c.(1567-1569)Tcc>Ccc	p.S523P	NBAS_ENST00000441750.1_Missense_Mutation_p.S523P	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	523					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						GGTGTCGTGGAGCGCAAACTC	0.433																																					p.S523P		Atlas-SNP	.											.	NBAS	246	.	0			c.T1567C						.						136.0	132.0	133.0					2																	15614223		2203	4300	6503	SO:0001583	missense	51594	exon15			TCGTGGAGCGCAA	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.1567T>C	chr2.hg19:g.15614223A>G	ENSP00000281513:p.Ser523Pro	109.0	0.0		93.0	4.0	NM_015909	O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Missense_Mutation	SNP	ENST00000281513.5	hg19	CCDS1685.1	.	.	.	.	.	.	.	.	.	.	A	16.44	3.122537	0.56613	.	.	ENSG00000151779	ENST00000441750;ENST00000281513	T;T	0.12147	2.71;2.87	5.89	4.71	0.59529	.	0.052750	0.85682	D	0.000000	T	0.33265	0.0857	M	0.68593	2.085	0.32450	N	0.545564	D	0.76494	0.999	D	0.66196	0.942	T	0.49143	-0.8970	10	0.87932	D	0	.	13.1019	0.59224	0.866:0.134:0.0:0.0	.	523	A2RRP1	NBAS_HUMAN	P	523	ENSP00000413201:S523P;ENSP00000281513:S523P	ENSP00000281513:S523P	S	-	1	0	NBAS	15531674	1.000000	0.71417	0.921000	0.36526	0.712000	0.41017	7.484000	0.81180	1.020000	0.39573	0.533000	0.62120	TCC	.	.		0.433	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909	
ASXL2	55252	hgsc.bcm.edu	37	2	25967273	25967273	+	Missense_Mutation	SNP	A	A	G			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr2:25967273A>G	ENST00000435504.4	-	13	2226	c.1933T>C	c.(1933-1935)Tcc>Ccc	p.S645P	ASXL2_ENST00000336112.4_Missense_Mutation_p.S617P|ASXL2_ENST00000404843.1_Missense_Mutation_p.S385P|ASXL2_ENST00000272341.4_Missense_Mutation_p.S385P			Q76L83	ASXL2_HUMAN	additional sex combs like transcriptional regulator 2	645					adult heart development (GO:0007512)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone H3-K27 trimethylation (GO:1902466)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTAGTGATGGAGACTGGAAAA	0.532																																					p.S645P		Atlas-SNP	.											.	ASXL2	217	.	0			c.T1933C						.						59.0	58.0	58.0					2																	25967273		1906	4124	6030	SO:0001583	missense	55252	exon12			TGATGGAGACTGG			2p24.1	2014-06-17	2014-06-17		ENSG00000143970	ENSG00000143970			23805	protein-coding gene	gene with protein product		612991	"""additional sex combs like 2 (Drosophila)"""			12888926	Standard	NM_018263		Approved	ASXH2, FLJ10898, KIAA1685	uc002rgs.2	Q76L83	OTTHUMG00000152176	ENST00000435504.4:c.1933T>C	chr2.hg19:g.25967273A>G	ENSP00000391447:p.Ser645Pro	87.0	0.0		84.0	4.0	NM_018263	Q53TC9|Q5H9U4|Q76L81|Q86XM1|Q9C0H8|Q9NV67	Missense_Mutation	SNP	ENST00000435504.4	hg19		.	.	.	.	.	.	.	.	.	.	A	14.20	2.465102	0.43839	.	.	ENSG00000143970	ENST00000435504;ENST00000336112;ENST00000404843;ENST00000272341	T;T;T;T	0.54866	0.55;0.55;0.55;0.55	5.9	3.41	0.39046	.	0.241958	0.43416	N	0.000576	T	0.44519	0.1297	M	0.68952	2.095	0.47183	D	0.999347	B;B	0.17465	0.009;0.022	B;B	0.14578	0.009;0.011	T	0.34576	-0.9823	10	0.38643	T	0.18	-6.2615	3.4259	0.07410	0.6508:0.1406:0.0736:0.1349	.	385;645	Q76L83-2;Q76L83	.;ASXL2_HUMAN	P	645;617;385;385	ENSP00000391447:S645P;ENSP00000337250:S617P;ENSP00000383920:S385P;ENSP00000272341:S385P	ENSP00000272341:S385P	S	-	1	0	ASXL2	25820777	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	1.359000	0.34113	0.422000	0.26005	0.460000	0.39030	TCC	.	.		0.532	ASXL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000325593.3	NM_018263	
NRBP1	29959	hgsc.bcm.edu	37	2	27656275	27656275	+	Missense_Mutation	SNP	A	A	T			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr2:27656275A>T	ENST00000233557.3	+	3	967	c.135A>T	c.(133-135)gaA>gaT	p.E45D	NRBP1_ENST00000379863.3_Missense_Mutation_p.E45D|NRBP1_ENST00000379852.3_Missense_Mutation_p.E45D			Q9UHY1	NRBP_HUMAN	nuclear receptor binding protein 1	45					ER to Golgi vesicle-mediated transport (GO:0006888)|gene expression (GO:0010467)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell projection (GO:0042995)|endomembrane system (GO:0012505)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					CCCCAGAGGAAGAAGAAGAAA	0.517																																					p.E45D		Atlas-SNP	.											.	NRBP1	40	.	0			c.A135T						.						82.0	73.0	76.0					2																	27656275		2203	4300	6503	SO:0001583	missense	29959	exon2			AGAGGAAGAAGAA	AF113249	CCDS1753.1	2p23	2008-02-05	2005-12-22	2005-12-22	ENSG00000115216	ENSG00000115216			7993	protein-coding gene	gene with protein product		606010	"""nuclear receptor binding protein"""	NRBP		10843813, 11956649	Standard	NM_013392		Approved	BCON3, MUDPNP, MADM	uc002rkp.3	Q9UHY1	OTTHUMG00000097789	ENST00000233557.3:c.135A>T	chr2.hg19:g.27656275A>T	ENSP00000233557:p.Glu45Asp	141.0	0.0		115.0	40.0	NM_013392	B3KV40|D6W558|Q53FZ5|Q96SU3	Missense_Mutation	SNP	ENST00000233557.3	hg19	CCDS1753.1	.	.	.	.	.	.	.	.	.	.	A	16.93	3.257682	0.59321	.	.	ENSG00000115216	ENST00000233557;ENST00000421823;ENST00000379852;ENST00000379863;ENST00000419281;ENST00000356442	D;D;D;D;D	0.99176	-5.52;-5.52;-5.52;-5.52;-5.52	5.27	2.9	0.33743	.	0.053822	0.64402	D	0.000001	D	0.96411	0.8829	L	0.45581	1.43	0.42989	D	0.994486	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.001	D	0.91797	0.5448	10	0.22706	T	0.39	-7.7005	5.947	0.19223	0.7643:0.0:0.2357:0.0	.	45;45	F8W6G1;Q9UHY1	.;NRBP_HUMAN	D	45;25;45;45;45;45	ENSP00000233557:E45D;ENSP00000369181:E45D;ENSP00000369192:E45D;ENSP00000403916:E45D;ENSP00000415406:E45D	ENSP00000233557:E45D	E	+	3	2	NRBP1	27509779	0.887000	0.30362	1.000000	0.80357	0.997000	0.91878	-0.003000	0.12901	0.355000	0.24131	0.460000	0.39030	GAA	.	.		0.517	NRBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215033.1	NM_013392	
SPAST	6683	hgsc.bcm.edu	37	2	32379552	32379552	+	Missense_Mutation	SNP	A	A	G			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr2:32379552A>G	ENST00000315285.3	+	17	1963	c.1838A>G	c.(1837-1839)gAt>gGt	p.D613G	SPAST_ENST00000345662.1_Missense_Mutation_p.D581G	NM_014946.3	NP_055761.2			spastin											breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					GACTTTGGAGATACCACTGTT	0.383																																					p.D613G		Atlas-SNP	.											.	SPAST	61	.	0			c.A1838G						.						91.0	88.0	89.0					2																	32379552		2203	4300	6503	SO:0001583	missense	6683	exon17			TTGGAGATACCAC	AJ246001	CCDS1778.1, CCDS1779.1	2p24-p21	2014-09-17	2005-03-15	2005-03-17	ENSG00000021574	ENSG00000021574		"""ATPases / AAA-type"""	11233	protein-coding gene	gene with protein product		604277	"""spastic paraplegia 4 (autosomal dominant; spastin)"""	SPG4		10493830, 10610178	Standard	NM_014946		Approved	FSP2, ADPSP, KIAA1083	uc002roc.3	Q9UBP0	OTTHUMG00000128455	ENST00000315285.3:c.1838A>G	chr2.hg19:g.32379552A>G	ENSP00000320885:p.Asp613Gly	59.0	0.0		85.0	4.0	NM_014946		Missense_Mutation	SNP	ENST00000315285.3	hg19	CCDS1778.1	.	.	.	.	.	.	.	.	.	.	A	19.08	3.757842	0.69648	.	.	ENSG00000021574	ENST00000345662;ENST00000315285	D;D	0.93604	-3.2;-3.25	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	D	0.95532	0.8548	L	0.56340	1.77	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.992	D	0.95184	0.8302	10	0.45353	T	0.12	-5.2438	16.0308	0.80577	1.0:0.0:0.0:0.0	.	581;613	E5KRP6;Q9UBP0	.;SPAST_HUMAN	G	581;613	ENSP00000340817:D581G;ENSP00000320885:D613G	ENSP00000320885:D613G	D	+	2	0	SPAST	32233056	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.336000	0.79245	2.315000	0.78130	0.533000	0.62120	GAT	.	.		0.383	SPAST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250253.1	NM_199436	
BIRC6	57448	hgsc.bcm.edu	37	2	32660588	32660588	+	Missense_Mutation	SNP	A	A	G			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr2:32660588A>G	ENST00000421745.2	+	14	3568	c.3434A>G	c.(3433-3435)aAt>aGt	p.N1145S		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	1145					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					GTGGAACAAAATGGGAAACCG	0.378																																					p.N1145S	Pancreas(94;175 1509 16028 18060 45422)	Atlas-SNP	.											.	BIRC6	838	.	0			c.A3434G						.						59.0	59.0	59.0					2																	32660588		2186	4258	6444	SO:0001583	missense	57448	exon14			AACAAAATGGGAA	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.3434A>G	chr2.hg19:g.32660588A>G	ENSP00000393596:p.Asn1145Ser	83.0	0.0		72.0	4.0	NM_016252	Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	hg19	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	A	11.70	1.715464	0.30413	.	.	ENSG00000115760	ENST00000421745	T	0.73681	-0.77	5.12	5.12	0.69794	.	0.125895	0.52532	D	0.000067	T	0.60248	0.2254	N	0.24115	0.695	0.51012	D	0.999907	B	0.14012	0.009	B	0.12156	0.007	T	0.55774	-0.8088	10	0.13470	T	0.59	.	14.9376	0.70970	1.0:0.0:0.0:0.0	.	1145	Q9NR09	BIRC6_HUMAN	S	1145	ENSP00000393596:N1145S	ENSP00000393596:N1145S	N	+	2	0	BIRC6	32514092	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.920000	0.75799	1.926000	0.55796	0.460000	0.39030	AAT	.	.		0.378	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252	
OXER1	165140	hgsc.bcm.edu	37	2	42991186	42991186	+	Missense_Mutation	SNP	A	A	G			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr2:42991186A>G	ENST00000378661.2	-	1	215	c.134T>C	c.(133-135)cTg>cCg	p.L45P		NM_148962.4	NP_683765.1	Q8TDS5	OXER1_HUMAN	oxoeicosanoid (OXE) receptor 1	45					G-protein coupled receptor signaling pathway (GO:0007186)|regulation of cAMP biosynthetic process (GO:0030817)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	5(S)-hydroxyperoxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding (GO:0050648)|5-hydroxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding (GO:0050647)|5-oxo-6E,8Z,11Z,14Z-icosatetraenoic acid binding (GO:0050646)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	10						tggagagCTCAGGTTATGAAG	0.587																																					p.L45P		Atlas-SNP	.											.	OXER1	33	.	0			c.T134C						.						78.0	66.0	70.0					2																	42991186		2203	4300	6503	SO:0001583	missense	165140	exon1			GAGCTCAGGTTAT	AB083055	CCDS1810.1	2p22.1	2012-08-10			ENSG00000162881	ENSG00000162881		"""GPCR / Class A : Leukotriene receptors"""	24884	protein-coding gene	gene with protein product	"""5-oxo-ETE acid G-protein-coupled receptor 1"""					12065583, 15001665	Standard	NM_148962		Approved	GPCR, TG1019, GPR170	uc002rss.3	Q8TDS5	OTTHUMG00000128643	ENST00000378661.2:c.134T>C	chr2.hg19:g.42991186A>G	ENSP00000367930:p.Leu45Pro	121.0	0.0		98.0	4.0	NM_148962	Q86WP7|Q8NGW4	Missense_Mutation	SNP	ENST00000378661.2	hg19	CCDS1810.1	.	.	.	.	.	.	.	.	.	.	A	13.55	2.269394	0.40095	.	.	ENSG00000162881	ENST00000378661	T	0.61859	0.07	2.7	0.177	0.15054	.	.	.	.	.	T	0.29914	0.0748	N	0.08118	0	0.42125	D	0.991441	B	0.24963	0.115	B	0.23419	0.046	T	0.09079	-1.0691	9	0.66056	D	0.02	.	2.0564	0.03582	0.5874:0.0:0.1525:0.2601	.	45	Q8TDS5	OXER1_HUMAN	P	45	ENSP00000367930:L45P	ENSP00000367930:L45P	L	-	2	0	OXER1	42844690	0.002000	0.14202	0.327000	0.25402	0.199000	0.23934	0.265000	0.18515	0.031000	0.15407	0.454000	0.30748	CTG	.	.		0.587	OXER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250514.1	NM_148962	
KIAA1841	84542	hgsc.bcm.edu	37	2	61304085	61304085	+	Silent	SNP	A	A	G			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr2:61304085A>G	ENST00000402291.1	+	6	703	c.462A>G	c.(460-462)gaA>gaG	p.E154E	KIAA1841_ENST00000356719.2_Silent_p.E154E|KIAA1841_ENST00000295031.5_Silent_p.E154E|KIAA1841_ENST00000453873.1_Silent_p.E154E|KIAA1841_ENST00000482513.1_3'UTR	NM_001129993.1	NP_001123465.1	Q6NSI8	K1841_HUMAN	KIAA1841	154										breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25			Epithelial(17;0.193)			TGTGTGATGAAGCAAAAAACT	0.348																																					p.E154E		Atlas-SNP	.											.	KIAA1841	95	.	0			c.A462G						.						59.0	61.0	60.0					2																	61304085		2203	4300	6503	SO:0001819	synonymous_variant	84542	exon6			TGATGAAGCAAAA	BC070104	CCDS1867.1, CCDS46296.1	2p15	2010-06-22			ENSG00000162929	ENSG00000162929			29387	protein-coding gene	gene with protein product						11347906	Standard	NM_032506		Approved		uc002saw.4	Q6NSI8	OTTHUMG00000129421	ENST00000402291.1:c.462A>G	chr2.hg19:g.61304085A>G		137.0	0.0		97.0	4.0	NM_032506	Q49AF0|Q6ZND0|Q96JI6	Silent	SNP	ENST00000402291.1	hg19	CCDS46296.1																																																																																			.	.		0.348	KIAA1841-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325477.1	NM_032506	
ETAA1	54465	hgsc.bcm.edu	37	2	67630454	67630454	+	Missense_Mutation	SNP	A	A	G			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr2:67630454A>G	ENST00000272342.5	+	5	770	c.640A>G	c.(640-642)Agg>Ggg	p.R214G	ETAA1_ENST00000462772.1_Intron	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	214						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						GCAAAACAAGAGGAATTATGA	0.289																																					p.R214G		Atlas-SNP	.											.	ETAA1	88	.	0			c.A640G						.						35.0	43.0	40.0					2																	67630454		2190	4280	6470	SO:0001583	missense	54465	exon5			AACAAGAGGAATT	AJ242682	CCDS1882.1	2p14	2014-02-12	2007-10-04		ENSG00000143971	ENSG00000143971			24648	protein-coding gene	gene with protein product		613196	"""Ewing's tumor-associated antigen 1"""			16003559	Standard	XM_005264374		Approved	ETAA16	uc002sdz.1	Q9NY74	OTTHUMG00000129545	ENST00000272342.5:c.640A>G	chr2.hg19:g.67630454A>G	ENSP00000272342:p.Arg214Gly	81.0	0.0		70.0	4.0	NM_019002	Q05BT7|Q53SC4	Missense_Mutation	SNP	ENST00000272342.5	hg19	CCDS1882.1	.	.	.	.	.	.	.	.	.	.	A	11.15	1.554375	0.27739	.	.	ENSG00000143971	ENST00000272342	T	0.21734	1.99	6.16	3.84	0.44239	.	0.958429	0.08683	N	0.909222	T	0.21186	0.0510	L	0.57536	1.79	0.09310	N	1	B	0.11235	0.004	B	0.14023	0.01	T	0.29458	-1.0011	10	0.54805	T	0.06	-13.0862	3.7484	0.08556	0.5661:0.2128:0.2211:0.0	.	214	Q9NY74	ETAA1_HUMAN	G	214	ENSP00000272342:R214G	ENSP00000272342:R214G	R	+	1	2	ETAA1	67483958	0.001000	0.12720	0.012000	0.15200	0.510000	0.34073	1.199000	0.32235	1.155000	0.42497	0.528000	0.53228	AGG	.	.		0.289	ETAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251735.1	NM_019002	
AAK1	22848	hgsc.bcm.edu	37	2	69741744	69741744	+	Silent	SNP	T	T	C			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr2:69741744T>C	ENST00000409085.4	-	13	2011	c.1635A>G	c.(1633-1635)caA>caG	p.Q545Q	AAK1_ENST00000406297.3_Silent_p.Q545Q|RN7SL604P_ENST00000492589.2_RNA|AAK1_ENST00000409068.1_Silent_p.Q545Q	NM_014911.3	NP_055726	Q2M2I8	AAK1_HUMAN	AP2 associated kinase 1	545	Gln-rich.				endocytosis (GO:0006897)|positive regulation of Notch signaling pathway (GO:0045747)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of clathrin-mediated endocytosis (GO:2000369)|regulation of protein localization (GO:0032880)	cell leading edge (GO:0031252)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extrinsic component of plasma membrane (GO:0019897)|terminal bouton (GO:0043195)	AP-2 adaptor complex binding (GO:0035612)|ATP binding (GO:0005524)|Notch binding (GO:0005112)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)	17						TGGCCAgctgttgctgttgct	0.562																																					p.Q545Q		Atlas-SNP	.											.	AAK1	121	.	0			c.A1635G						.						33.0	35.0	34.0					2																	69741744		2198	4296	6494	SO:0001819	synonymous_variant	22848	exon13			CAGCTGTTGCTGT	AB028971	CCDS1893.2	2p13.3	2012-07-10			ENSG00000115977	ENSG00000115977			19679	protein-coding gene	gene with protein product						11877461, 12471243	Standard	NM_014911		Approved	KIAA1048, DKFZp686K16132	uc002sfp.2	Q2M2I8	OTTHUMG00000129648	ENST00000409085.4:c.1635A>G	chr2.hg19:g.69741744T>C		80.0	0.0		98.0	5.0	NM_014911	Q4ZFZ3|Q53RX6|Q9UPV4	Silent	SNP	ENST00000409085.4	hg19	CCDS1893.2																																																																																			.	.		0.562	AAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251847.4	NM_014911	
AAK1	22848	hgsc.bcm.edu	37	2	69741753	69741753	+	Silent	SNP	C	C	T	rs66931661|rs3832159	byFrequency	TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr2:69741753C>T	ENST00000409085.4	-	13	2002	c.1626G>A	c.(1624-1626)caG>caA	p.Q542Q	AAK1_ENST00000406297.3_Silent_p.Q542Q|RN7SL604P_ENST00000492589.2_RNA|AAK1_ENST00000409068.1_Silent_p.Q542Q	NM_014911.3	NP_055726	Q2M2I8	AAK1_HUMAN	AP2 associated kinase 1	542	Gln-rich.				endocytosis (GO:0006897)|positive regulation of Notch signaling pathway (GO:0045747)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of clathrin-mediated endocytosis (GO:2000369)|regulation of protein localization (GO:0032880)	cell leading edge (GO:0031252)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extrinsic component of plasma membrane (GO:0019897)|terminal bouton (GO:0043195)	AP-2 adaptor complex binding (GO:0035612)|ATP binding (GO:0005524)|Notch binding (GO:0005112)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)	17						gttgctgttgctgttgttgtt	0.552																																					p.Q542Q		Atlas-SNP	.											.	AAK1	121	.	0			c.G1626A						.						33.0	35.0	34.0					2																	69741753		2192	4296	6488	SO:0001819	synonymous_variant	22848	exon13			CTGTTGCTGTTGT	AB028971	CCDS1893.2	2p13.3	2012-07-10			ENSG00000115977	ENSG00000115977			19679	protein-coding gene	gene with protein product						11877461, 12471243	Standard	NM_014911		Approved	KIAA1048, DKFZp686K16132	uc002sfp.2	Q2M2I8	OTTHUMG00000129648	ENST00000409085.4:c.1626G>A	chr2.hg19:g.69741753C>T		74.0	0.0		100.0	8.0	NM_014911	Q4ZFZ3|Q53RX6|Q9UPV4	Silent	SNP	ENST00000409085.4	hg19	CCDS1893.2																																																																																			.	.		0.552	AAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251847.4	NM_014911	
DYSF	8291	hgsc.bcm.edu	37	2	71708030	71708030	+	Nonsense_Mutation	SNP	A	A	T	rs398123764		TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr2:71708030A>T	ENST00000258104.3	+	2	383	c.106A>T	c.(106-108)Aaa>Taa	p.K36*	DYSF_ENST00000409582.3_Nonsense_Mutation_p.K36*|DYSF_ENST00000409651.1_Nonsense_Mutation_p.K37*|DYSF_ENST00000409366.1_Nonsense_Mutation_p.K37*|DYSF_ENST00000394120.2_Nonsense_Mutation_p.K37*|DYSF_ENST00000409744.1_Nonsense_Mutation_p.K37*|DYSF_ENST00000410020.3_Nonsense_Mutation_p.K37*|DYSF_ENST00000429174.2_Nonsense_Mutation_p.K36*|DYSF_ENST00000413539.2_Nonsense_Mutation_p.K36*|DYSF_ENST00000410041.1_Nonsense_Mutation_p.K37*|DYSF_ENST00000409762.1_Nonsense_Mutation_p.K36*	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	36	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GAAGAGAACCAAAGTCATCAA	0.488																																					p.K37X		Atlas-SNP	.											.	DYSF	536	.	0			c.A109T						.						253.0	194.0	214.0					2																	71708030		2203	4300	6503	SO:0001587	stop_gained	8291	exon2			AGAACCAAAGTCA	AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.106A>T	chr2.hg19:g.71708030A>T	ENSP00000258104:p.Lys36*	272.0	0.0		224.0	85.0	NM_001130984	A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Nonsense_Mutation	SNP	ENST00000258104.3	hg19	CCDS1918.1	.	.	.	.	.	.	.	.	.	.	A	40	8.153172	0.98680	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	.	.	.	4.43	4.43	0.53597	.	0.195281	0.41396	D	0.000888	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.4719	11.9148	0.52759	1.0:0.0:0.0:0.0	.	.	.	.	X	36;36;36;36;36;37;37;37;37;37;37	.	ENSP00000258104:K36X	K	+	1	0	DYSF	71561538	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.232000	0.78116	1.771000	0.52183	0.454000	0.30748	AAA	.	.		0.488	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494	
SMYD5	10322	hgsc.bcm.edu	37	2	73449933	73449933	+	Silent	SNP	A	A	G			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr2:73449933A>G	ENST00000389501.4	+	7	738	c.693A>G	c.(691-693)gaA>gaG	p.E231E		NM_006062.2	NP_006053.2	Q6GMV2	SMYD5_HUMAN	SMYD family member 5	231	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						TCTATGAGGAAGCAGTCAGCC	0.552																																					p.E231E		Atlas-SNP	.											.	SMYD5	58	.	0			c.A693G						.						47.0	42.0	44.0					2																	73449933		2203	4300	6503	SO:0001819	synonymous_variant	10322	exon7			TGAGGAAGCAGTC	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.693A>G	chr2.hg19:g.73449933A>G		83.0	0.0		119.0	6.0	NM_006062	D6W5H3|Q13558	Silent	SNP	ENST00000389501.4	hg19	CCDS33221.2																																																																																			.	.		0.552	SMYD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318301.1	NM_006062	
C2orf78	388960	hgsc.bcm.edu	37	2	74043271	74043271	+	Missense_Mutation	SNP	G	G	T			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr2:74043271G>T	ENST00000409561.1	+	3	2042	c.1921G>T	c.(1921-1923)Ggg>Tgg	p.G641W		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	641								p.G641W(1)|p.G611W(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						CCATGCACTCGGGAAAAAGAT	0.493																																					p.G641W		Atlas-SNP	.											.	C2orf78	150	.	2	Substitution - Missense(2)	lung(2)	c.G1921T						.						59.0	58.0	58.0					2																	74043271		1870	4102	5972	SO:0001583	missense	388960	exon3			GCACTCGGGAAAA	AC092653, AC136006, AK125975	CCDS46338.1	2p13.2	2008-07-18			ENSG00000187833	ENSG00000187833			34349	protein-coding gene	gene with protein product							Standard	NM_001080474		Approved	FLJ43987, hCG1989538, COG5373	uc002sjr.1	A6NCI8	OTTHUMG00000152819	ENST00000409561.1:c.1921G>T	chr2.hg19:g.74043271G>T	ENSP00000387124:p.Gly641Trp	64.0	0.0		53.0	4.0	NM_001080474		Missense_Mutation	SNP	ENST00000409561.1	hg19	CCDS46338.1	.	.	.	.	.	.	.	.	.	.	G	11.28	1.591505	0.28357	.	.	ENSG00000187833	ENST00000409561;ENST00000342345	.	.	.	5.13	3.26	0.37387	.	0.000000	0.49916	D	0.000139	T	0.75064	0.3799	M	0.82323	2.585	0.33274	D	0.561361	D	0.89917	1.0	D	0.97110	1.0	T	0.82061	-0.0644	9	0.87932	D	0	-25.3562	10.6486	0.45634	0.0:0.0:0.6508:0.3492	.	641	A6NCI8	CB078_HUMAN	W	641;611	.	ENSP00000340692:G611W	G	+	1	0	C2orf78	73896779	1.000000	0.71417	0.401000	0.26359	0.002000	0.02628	4.198000	0.58419	0.623000	0.30267	-0.311000	0.09066	GGG	.	.		0.493	C2orf78-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000328083.1	NM_001080474	
ZC3H8	84524	hgsc.bcm.edu	37	2	112989436	112989436	+	Silent	SNP	T	T	C			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr2:112989436T>C	ENST00000409573.2	-	7	951	c.822A>G	c.(820-822)gaA>gaG	p.E274E	ZC3H8_ENST00000272570.5_Silent_p.E274E|ZC3H8_ENST00000476902.1_5'UTR			Q8N5P1	ZC3H8_HUMAN	zinc finger CCCH-type containing 8	274					apoptotic process (GO:0006915)|negative regulation of T cell differentiation in thymus (GO:0033085)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|response to antibiotic (GO:0046677)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)|T cell homeostasis (GO:0043029)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)	7						ATTCTTGTGTTTCAGGAGTCA	0.308																																					p.E274E		Atlas-SNP	.											.	ZC3H8	17	.	0			c.A822G						.						101.0	95.0	97.0					2																	112989436		1910	4170	6080	SO:0001819	synonymous_variant	84524	exon7			TTGTGTTTCAGGA	AF334161	CCDS46392.1	2q13	2012-07-05	2005-06-02	2005-06-02	ENSG00000144161	ENSG00000144161		"""Zinc fingers, CCCH-type domain containing"""	30941	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 8"""	ZC3HDC8		12477932	Standard	NM_032494		Approved	Fliz1	uc021vmw.1	Q8N5P1	OTTHUMG00000153270	ENST00000409573.2:c.822A>G	chr2.hg19:g.112989436T>C		43.0	0.0		41.0	4.0	NM_032494	Q9BZ75	Silent	SNP	ENST00000409573.2	hg19	CCDS46392.1																																																																																			.	.		0.308	ZC3H8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330521.3	NM_032494	
GCA	25801	hgsc.bcm.edu	37	2	163216022	163216022	+	Missense_Mutation	SNP	A	A	G			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr2:163216022A>G	ENST00000437150.2	+	7	748	c.587A>G	c.(586-588)gAc>gGc	p.D196G	GCA_ENST00000233612.4_Missense_Mutation_p.D177G|GCA_ENST00000429691.2_Intron	NM_012198.3	NP_036330.1	P28676	GRAN_HUMAN	grancalcin, EF-hand calcium binding protein	196					membrane fusion (GO:0061025)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(1)	9						AGGAAAAGAGACCACTTGCAA	0.294																																					p.D196G		Atlas-SNP	.											.	GCA	15	.	0			c.A587G						.						72.0	76.0	75.0					2																	163216022		2202	4293	6495	SO:0001583	missense	25801	exon7			AAAGAGACCACTT	M81637	CCDS2218.1	2q24.2	2013-01-10	2001-11-28		ENSG00000115271	ENSG00000115271		"""EF-hand domain containing"""	15990	protein-coding gene	gene with protein product		607030	"""grancalcin, EF-hand calcium-binding protein"""			1737748, 1530588, 12804766	Standard	NM_012198		Approved	GCL	uc002ucg.3	P28676	OTTHUMG00000132057	ENST00000437150.2:c.587A>G	chr2.hg19:g.163216022A>G	ENSP00000394842:p.Asp196Gly	105.0	0.0		93.0	4.0	NM_012198	B2R5X3|Q53TB5|Q59EP3	Missense_Mutation	SNP	ENST00000437150.2	hg19	CCDS2218.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	22.2|22.2	4.264476|4.264476	0.80358|0.80358	.|.	.|.	ENSG00000115271|ENSG00000115271	ENST00000437150;ENST00000233612|ENST00000414723	T;T|.	0.55234|.	0.53;0.53|.	5.12|5.12	5.12|5.12	0.69794|0.69794	EF-hand-like domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.87458|0.87458	0.6182|0.6182	H|H	0.96720|0.96720	3.87|3.87	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	D|D	0.91498|0.91498	0.5217|0.5217	10|5	0.87932|.	D|.	0|.	.|.	14.193|14.193	0.65652|0.65652	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	196|.	P28676|.	GRAN_HUMAN|.	G|A	196;177|109	ENSP00000394842:D196G;ENSP00000233612:D177G|.	ENSP00000233612:D177G|.	D|T	+|+	2|1	0|0	GCA|GCA	162924268|162924268	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	7.907000|7.907000	0.87430|0.87430	2.050000|2.050000	0.60909|0.60909	0.374000|0.374000	0.22700|0.22700	GAC|ACC	.	.		0.294	GCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255080.3	NM_012198	
GRB14	2888	hgsc.bcm.edu	37	2	165383605	165383605	+	Silent	SNP	T	T	C			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr2:165383605T>C	ENST00000263915.3	-	4	1060	c.522A>G	c.(520-522)ctA>ctG	p.L174L	GRB14_ENST00000543549.1_Silent_p.L87L	NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14	174	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				blood coagulation (GO:0007596)|leukocyte migration (GO:0050900)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)			breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						CCCAGTTGGATAGCACTTCAA	0.308																																					p.L174L		Atlas-SNP	.											.	GRB14	73	.	0			c.A522G						.						98.0	96.0	97.0					2																	165383605		2202	4296	6498	SO:0001819	synonymous_variant	2888	exon4			GTTGGATAGCACT		CCDS2222.1	2q22-q24	2013-02-14			ENSG00000115290	ENSG00000115290		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	4565	protein-coding gene	gene with protein product		601524				8812444	Standard	XM_005246477		Approved		uc002ucl.3	Q14449	OTTHUMG00000132135	ENST00000263915.3:c.522A>G	chr2.hg19:g.165383605T>C		64.0	0.0		84.0	4.0	NM_004490	B7Z7F9|Q7Z6I1	Silent	SNP	ENST00000263915.3	hg19	CCDS2222.1																																																																																			.	.		0.308	GRB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255180.2		
SCN1A	6323	hgsc.bcm.edu	37	2	166911151	166911151	+	Missense_Mutation	SNP	A	A	G			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr2:166911151A>G	ENST00000303395.4	-	4	598	c.599T>C	c.(598-600)tTt>tCt	p.F200S	SCN1A_ENST00000375405.3_Missense_Mutation_p.F200S|SCN1A_ENST00000409050.1_Missense_Mutation_p.F200S|AC010127.3_ENST00000595268.1_RNA|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000423058.2_Missense_Mutation_p.F200S			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	200					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CACTTACGCAAATGTAATGAC	0.338																																					p.F200S		Atlas-SNP	.											.	SCN1A	641	.	0			c.T599C						.						64.0	66.0	65.0					2																	166911151		2203	4299	6502	SO:0001583	missense	6323	exon4			TACGCAAATGTAA	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.599T>C	chr2.hg19:g.166911151A>G	ENSP00000303540:p.Phe200Ser	83.0	0.0		76.0	4.0	NM_001165964	E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	hg19	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	A	29.4	5.004521	0.93287	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.97378	-4.36;-4.36;-4.36;-4.36	5.24	5.24	0.73138	Ion transport (1);	0.000000	0.64402	D	0.000002	D	0.96907	0.8990	L	0.27944	0.81	0.46725	D	0.999176	D;D;D	0.59357	0.972;0.967;0.985	P;P;D	0.74674	0.805;0.866;0.984	D	0.98196	1.0465	10	0.87932	D	0	.	15.4223	0.75022	1.0:0.0:0.0:0.0	.	200;200;200	P35498-2;E9PG49;P35498	.;.;SCN1A_HUMAN	S	200	ENSP00000407030:F200S;ENSP00000303540:F200S;ENSP00000364554:F200S;ENSP00000386312:F200S	ENSP00000303540:F200S	F	-	2	0	SCN1A	166619397	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.226000	0.95229	2.099000	0.63709	0.459000	0.35465	TTT	.	.		0.338	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920	
LRP2	4036	hgsc.bcm.edu	37	2	170013995	170013995	+	Missense_Mutation	SNP	T	T	C			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr2:170013995T>C	ENST00000263816.3	-	64	12190	c.11905A>G	c.(11905-11907)Aca>Gca	p.T3969A		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3969	EGF-like 14. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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)"""	TCAGCACATGTTCTTTCTTTT	0.378																																					p.T3969A		Atlas-SNP	.											.	LRP2	751	.	0			c.A11905G						.						135.0	129.0	131.0					2																	170013995		2203	4300	6503	SO:0001583	missense	4036	exon64			CACATGTTCTTTC		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.11905A>G	chr2.hg19:g.170013995T>C	ENSP00000263816:p.Thr3969Ala	124.0	0.0		66.0	4.0	NM_004525	O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	hg19	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	T	15.26	2.781527	0.49891	.	.	ENSG00000081479	ENST00000263816	D	0.82081	-1.57	5.88	0.246	0.15516	Growth factor, receptor (1);Epidermal growth factor-like (1);	0.220701	0.45361	D	0.000372	T	0.66906	0.2837	N	0.19112	0.55	0.80722	D	1	B	0.31581	0.329	B	0.27380	0.079	T	0.56703	-0.7935	10	0.12103	T	0.63	.	14.6101	0.68510	0.1427:0.0:0.0:0.8573	.	3969	P98164	LRP2_HUMAN	A	3969	ENSP00000263816:T3969A	ENSP00000263816:T3969A	T	-	1	0	LRP2	169722241	1.000000	0.71417	0.922000	0.36590	0.925000	0.55904	1.775000	0.38584	0.092000	0.17331	0.533000	0.62120	ACA	.	.		0.378	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525	
PPIG	9360	hgsc.bcm.edu	37	2	170487422	170487422	+	Missense_Mutation	SNP	A	A	G			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr2:170487422A>G	ENST00000260970.3	+	10	906	c.686A>G	c.(685-687)aAa>aGa	p.K229R	PPIG_ENST00000448752.2_Missense_Mutation_p.K229R|PPIG_ENST00000409714.3_Missense_Mutation_p.K214R|PPIG_ENST00000462903.1_Missense_Mutation_p.K229R|PPIG_ENST00000482772.1_3'UTR	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	229	Arg/Lys-rich (basic).				protein folding (GO:0006457)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	AAATCAAAGAAAAGAAAAAAG	0.363																																					p.K229R		Atlas-SNP	.											.	PPIG	100	.	0			c.A686G						.						47.0	54.0	52.0					2																	170487422		2172	4242	6414	SO:0001583	missense	9360	exon10			CAAAGAAAAGAAA	X99717	CCDS2235.1	2q31.1	2010-07-23	2006-01-12		ENSG00000138398	ENSG00000138398	6.1.1.16		14650	protein-coding gene	gene with protein product	"""SR-related CTD-associated factor 10"""	606093	"""peptidyl-prolyl isomerase G (cyclophilin G)"""			8973360, 9153302	Standard	NM_004792		Approved	CARS-Cyp, SRCyp, SCAF10	uc002uez.3	Q13427	OTTHUMG00000132206	ENST00000260970.3:c.686A>G	chr2.hg19:g.170487422A>G	ENSP00000260970:p.Lys229Arg	133.0	0.0		95.0	4.0	NM_004792	D3DPC5|D3DPC6|O00706|Q53R40|Q53SN4|Q96DG9	Missense_Mutation	SNP	ENST00000260970.3	hg19	CCDS2235.1	.	.	.	.	.	.	.	.	.	.	A	14.63	2.592316	0.46214	.	.	ENSG00000138398	ENST00000260970;ENST00000530133;ENST00000433207;ENST00000409714;ENST00000462903;ENST00000448752;ENST00000414307	T;T;T;T;T;T	0.30182	2.18;1.72;2.18;1.54;2.18;1.88	5.74	5.74	0.90152	.	0.422127	0.26507	N	0.023984	T	0.46718	0.1407	L	0.46614	1.455	0.58432	D	0.999996	D;D;D;D;D	0.69078	0.997;0.993;0.993;0.996;0.993	D;D;D;D;D	0.75020	0.985;0.978;0.978;0.981;0.978	T	0.22977	-1.0201	10	0.17832	T	0.49	-4.4455	15.7137	0.77652	1.0:0.0:0.0:0.0	.	225;214;214;229;229	C9JM79;E9PG73;Q2NKQ6;Q13427-2;Q13427	.;.;.;.;PPIG_HUMAN	R	229;229;225;214;229;229;229	ENSP00000260970:K229R;ENSP00000408683:K225R;ENSP00000386245:K214R;ENSP00000435987:K229R;ENSP00000407083:K229R;ENSP00000402222:K229R	ENSP00000260970:K229R	K	+	2	0	PPIG	170195668	1.000000	0.71417	0.990000	0.47175	0.263000	0.26337	7.416000	0.80143	2.168000	0.68352	0.533000	0.62120	AAA	.	.		0.363	PPIG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255264.2		
TTN	7273	hgsc.bcm.edu	37	2	179399440	179399440	+	Missense_Mutation	SNP	G	G	A			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr2:179399440G>A	ENST00000591111.1	-	308	97203	c.96979C>T	c.(96979-96981)Cca>Tca	p.P32327S	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P25028S|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P25095S|TTN_ENST00000460472.2_Missense_Mutation_p.P24903S|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P31400S|TTN-AS1_ENST00000585358.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.P33968S|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000591466.1_RNA			Q8WZ42	TITIN_HUMAN	titin	32327	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)			TTGTCCCCTGGTTTCAGCTGA	0.438																																					p.P33968S		Atlas-SNP	.											.	TTN	18412	.	0			c.C101902T						.						64.0	62.0	63.0					2																	179399440		1891	4122	6013	SO:0001583	missense	7273	exon358			CCCCTGGTTTCAG	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.96979C>T	chr2.hg19:g.179399440G>A	ENSP00000465570:p.Pro32327Ser	77.0	0.0		90.0	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		.	.	.	.	.	.	.	.	.	.	G	19.24	3.788809	0.70337	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03	6.02	6.02	0.97574	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.72550	0.3474	L	0.31371	0.925	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	T	0.73994	-0.3807	9	0.87932	D	0	.	20.1323	0.98003	0.0:0.0:1.0:0.0	.	24903;25028;25095;32327	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	S	31400;24903;25095;25028;24900	ENSP00000343764:P31400S;ENSP00000434586:P24903S;ENSP00000340554:P25095S;ENSP00000352154:P25028S	ENSP00000340554:P25095S	P	-	1	0	TTN	179107686	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.837000	0.99465	2.857000	0.98124	0.650000	0.86243	CCA	.	.		0.438	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	hgsc.bcm.edu	37	2	179585665	179585665	+	Missense_Mutation	SNP	G	G	A			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr2:179585665G>A	ENST00000591111.1	-	77	22354	c.22130C>T	c.(22129-22131)aCa>aTa	p.T7377I	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.T6450I|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.T7694I			Q8WZ42	TITIN_HUMAN	titin	12937	Ig-like 55.				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)			TGTCAACGCTGTGCTGCAGCT	0.433																																					p.T7694I		Atlas-SNP	.											.	TTN	18412	.	0			c.C23081T						.						61.0	61.0	61.0					2																	179585665		2026	4203	6229	SO:0001583	missense	7273	exon79			AACGCTGTGCTGC	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.22130C>T	chr2.hg19:g.179585665G>A	ENSP00000465570:p.Thr7377Ile	98.0	0.0		99.0	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		.	.	.	.	.	.	.	.	.	.	G	10.33	1.319538	0.23994	.	.	ENSG00000155657	ENST00000342992	T	0.65178	-0.14	6.16	6.16	0.99307	Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.65260	0.2674	N	0.25426	0.745	0.80722	D	1	P	0.40282	0.711	P	0.49301	0.606	T	0.65865	-0.6064	9	0.87932	D	0	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	7377	Q8WZ42	TITIN_HUMAN	I	6450	ENSP00000343764:T6450I	ENSP00000343764:T6450I	T	-	2	0	TTN	179293910	0.997000	0.39634	1.000000	0.80357	0.970000	0.65996	2.662000	0.46766	2.937000	0.99478	0.650000	0.86243	ACA	.	.		0.433	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
SSFA2	6744	hgsc.bcm.edu	37	2	182780346	182780346	+	Missense_Mutation	SNP	A	A	G			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr2:182780346A>G	ENST00000431877.2	+	11	2158	c.1979A>G	c.(1978-1980)cAc>cGc	p.H660R	SSFA2_ENST00000409001.1_Missense_Mutation_p.H660R|SSFA2_ENST00000320370.7_Missense_Mutation_p.H660R|SSFA2_ENST00000428267.2_Missense_Mutation_p.H507R|SSFA2_ENST00000409136.1_Missense_Mutation_p.H169R	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	660						cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			TATACCACACACCATATTCTG	0.413																																					p.H660R		Atlas-SNP	.											.	SSFA2	130	.	0			c.A1979G						.						80.0	76.0	77.0					2																	182780346		2203	4300	6503	SO:0001583	missense	6744	exon11			CCACACACCATAT	M61199	CCDS2284.1, CCDS46467.1, CCDS74611.1	2q32.1	2012-02-01			ENSG00000138434	ENSG00000138434			11319	protein-coding gene	gene with protein product	"""cleavage signal-1 protein"", ""KRAS-induced actin-interacting protein"", ""sperm associated antigen 13"""	118990				1555770	Standard	XM_005246812		Approved	CS-1, SPAG13, KRAP, KIAA1927	uc002uoh.3	P28290	OTTHUMG00000132584	ENST00000431877.2:c.1979A>G	chr2.hg19:g.182780346A>G	ENSP00000388731:p.His660Arg	108.0	0.0		106.0	6.0	NM_001130445	A8K6T0|Q68DA6|Q7Z7L2|Q8N1L3|Q8N263|Q8N7H2|Q8NEN5|Q96E36|Q96PW1	Missense_Mutation	SNP	ENST00000431877.2	hg19	CCDS46467.1	.	.	.	.	.	.	.	.	.	.	A	16.82	3.227509	0.58668	.	.	ENSG00000138434	ENST00000431877;ENST00000320370;ENST00000409001;ENST00000428267;ENST00000409136	T;T;T;T;T	0.16743	2.59;2.35;2.58;2.59;2.32	5.54	5.54	0.83059	.	0.177650	0.50627	D	0.000110	T	0.43612	0.1255	M	0.73598	2.24	0.45415	D	0.998398	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.85130	0.997;0.996;0.996;0.996;0.996	T	0.41070	-0.9529	10	0.72032	D	0.01	-10.7804	15.683	0.77388	1.0:0.0:0.0:0.0	.	507;169;660;660;660	E7END2;E7EUL7;E9PHV5;P28290;P28290-3	.;.;.;SSFA2_HUMAN;.	R	660;660;660;507;169	ENSP00000388731:H660R;ENSP00000314669:H660R;ENSP00000387319:H660R;ENSP00000409867:H507R;ENSP00000386916:H169R	ENSP00000314669:H660R	H	+	2	0	SSFA2	182488591	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	4.143000	0.58051	2.119000	0.64992	0.454000	0.30748	CAC	.	.		0.413	SSFA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255793.2	NM_006751	
ZNF804A	91752	hgsc.bcm.edu	37	2	185802216	185802216	+	Missense_Mutation	SNP	T	T	C			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr2:185802216T>C	ENST00000302277.6	+	4	2687	c.2093T>C	c.(2092-2094)aTa>aCa	p.I698T		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	698							metal ion binding (GO:0046872)			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						AAGAACACAATACTTTTAAAT	0.294																																					p.I698T		Atlas-SNP	.											.	ZNF804A	322	.	0			c.T2093C						.						73.0	67.0	69.0					2																	185802216		2194	4291	6485	SO:0001583	missense	91752	exon4			ACACAATACTTTT	AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.2093T>C	chr2.hg19:g.185802216T>C	ENSP00000303252:p.Ile698Thr	37.0	0.0		47.0	5.0	NM_194250	A7E253|Q6ZN26	Missense_Mutation	SNP	ENST00000302277.6	hg19	CCDS2291.1	.	.	.	.	.	.	.	.	.	.	T	3.795	-0.042847	0.07452	.	.	ENSG00000170396	ENST00000302277	T	0.05258	3.47	5.63	0.374	0.16183	.	1.826620	0.02817	N	0.125135	T	0.04227	0.0117	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40776	-0.9545	10	0.27082	T	0.32	-0.3078	8.4113	0.32644	0.0:0.5963:0.0:0.4037	.	698	Q7Z570	Z804A_HUMAN	T	698	ENSP00000303252:I698T	ENSP00000303252:I698T	I	+	2	0	ZNF804A	185510461	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	0.483000	0.22292	0.077000	0.16863	0.533000	0.62120	ATA	.	.		0.294	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250	
ITGAV	3685	hgsc.bcm.edu	37	2	187531442	187531442	+	Silent	SNP	T	T	C			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr2:187531442T>C	ENST00000261023.3	+	22	2452	c.2178T>C	c.(2176-2178)ggT>ggC	p.G726G	AC017101.10_ENST00000453665.1_RNA|ITGAV_ENST00000374907.3_Silent_p.G690G|ITGAV_ENST00000433736.2_Silent_p.G680G	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V	726					angiogenesis (GO:0001525)|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)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|apoptotic cell clearance (GO:0043277)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|endodermal cell differentiation (GO:0035987)|entry of symbiont into host cell by promotion of host phagocytosis (GO:0052066)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|negative chemotaxis (GO:0050919)|negative regulation of entry of bacterium into host cell (GO:2000536)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast proliferation (GO:0033690)|regulation of apoptotic cell clearance (GO:2000425)|regulation of phagocytosis (GO:0050764)|substrate adhesion-dependent cell spreading (GO:0034446)|viral entry into host cell (GO:0046718)	alphav-beta3 integrin-IGF-1-IGF1R complex (GO:0035867)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin alphav-beta5 complex (GO:0034684)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	extracellular matrix binding (GO:0050840)|extracellular matrix protein binding (GO:1990430)|fibronectin binding (GO:0001968)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|transforming growth factor beta binding (GO:0050431)|virus receptor activity (GO:0001618)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	Antithymocyte globulin(DB00098)	TCTTAGCTGGTCTTCGTTTCA	0.323																																					p.G726G	Melanoma(58;108 1995 6081)	Atlas-SNP	.											.	ITGAV	124	.	0			c.T2178C						.						100.0	95.0	97.0					2																	187531442		2203	4300	6503	SO:0001819	synonymous_variant	3685	exon22			AGCTGGTCTTCGT		CCDS2292.1, CCDS46470.1, CCDS46471.1	2q31-q32	2012-04-20	2012-04-20		ENSG00000138448	ENSG00000138448		"""CD molecules"", ""Integrins"""	6150	protein-coding gene	gene with protein product		193210	"""antigen identified by monoclonal antibody L230"", ""vitronectin receptor"", ""integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51)"""	VNRA, MSK8, VTNR		2454952	Standard	NM_001144999		Approved	CD51	uc002upq.4	P06756	OTTHUMG00000132635	ENST00000261023.3:c.2178T>C	chr2.hg19:g.187531442T>C		73.0	0.0		76.0	4.0	NM_002210	A0AV67|B0LPF4|B7Z883|B7ZLX0|D3DPG8|E7EWZ6|Q53SK4|Q59EB7|Q6LD15	Silent	SNP	ENST00000261023.3	hg19	CCDS2292.1																																																																																			.	.		0.323	ITGAV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255882.2	NM_002210	
MOB4	25843	hgsc.bcm.edu	37	2	198405093	198405093	+	Missense_Mutation	SNP	A	A	G			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr2:198405093A>G	ENST00000323303.4	+	5	541	c.286A>G	c.(286-288)Act>Gct	p.T96A	MOB4_ENST00000497443.1_3'UTR|MOB4_ENST00000233892.4_Missense_Mutation_p.T64A|HSPE1-MOB4_ENST00000604458.1_Missense_Mutation_p.T132A|MOB4_ENST00000409916.1_5'UTR|MOB4_ENST00000409360.1_Missense_Mutation_p.T64A|MOB4_ENST00000448447.2_Missense_Mutation_p.T75A	NM_001202485.1|NM_015387.4	NP_001189414.1|NP_056202.2	Q9Y3A3	PHOCN_HUMAN	MOB family member 4, phocein	96					transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	metal ion binding (GO:0046872)										CCATCCAGATACTTGCACTCA	0.274																																					p.T132A		Atlas-SNP	.											.	.	.	.	0			c.A394G						.						33.0	33.0	33.0					2																	198405093		2202	4291	6493	SO:0001583	missense	0	exon6			CCAGATACTTGCA	AF151853	CCDS2321.1, CCDS2322.1, CCDS46480.1	2q33.1	2011-09-28	2011-09-28	2011-09-28	ENSG00000115540	ENSG00000115540		"""MOB kinase activators"""	17261	protein-coding gene	gene with protein product	"""phocein"", ""phocein, Mob-like protein"""	609361	"""preimplantation protein 3"", ""MOB1, Mps One Binder kinase activator-like 3 (yeast)"""	PREI3, MOBKL3		17853115, 10810093, 11230166, 11319234	Standard	NM_199482		Approved	MOB3, DKFZP564M112, CGI-95, 2C4D, PHOCN		Q9Y3A3	OTTHUMG00000132748	ENST00000323303.4:c.286A>G	chr2.hg19:g.198405093A>G	ENSP00000315702:p.Thr96Ala	131.0	0.0		99.0	4.0	NM_001202485	B4DML0|Q53SE0|Q7Z4Y6|Q9H2P3|Q9H5J1|Q9Y4T8	Missense_Mutation	SNP	ENST00000323303.4	hg19	CCDS2321.1	.	.	.	.	.	.	.	.	.	.	A	18.54	3.645165	0.67358	.	.	ENSG00000115540	ENST00000233892;ENST00000323303;ENST00000448447;ENST00000409360	.	.	.	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.79581	0.4470	M	0.92122	3.275	0.80722	D	1	B;B	0.20988	0.04;0.05	B;B	0.25987	0.039;0.065	T	0.79841	-0.1633	9	0.72032	D	0.01	.	15.8317	0.78757	1.0:0.0:0.0:0.0	.	75;96	Q9Y3A3-3;Q9Y3A3	.;PHOCN_HUMAN	A	64;96;75;64	.	ENSP00000233892:T64A	T	+	1	0	PHOCN	198113338	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.248000	0.95456	2.136000	0.66102	0.533000	0.62120	ACT	.	.		0.274	MOB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256110.4	NM_015387	
CFLAR	8837	hgsc.bcm.edu	37	2	202025503	202025503	+	Missense_Mutation	SNP	A	A	G			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr2:202025503A>G	ENST00000309955.3	+	9	1657	c.1142A>G	c.(1141-1143)aAg>aGg	p.K381R	CFLAR_ENST00000423241.2_Missense_Mutation_p.K381R|CFLAR_ENST00000479953.2_Missense_Mutation_p.K285R|CFLAR_ENST00000443227.1_Missense_Mutation_p.K285R|CFLAR_ENST00000340870.5_Missense_Mutation_p.K381R|CFLAR_ENST00000355558.4_Intron|CFLAR_ENST00000341582.6_Missense_Mutation_p.K346R|CFLAR-AS1_ENST00000415011.2_RNA|CFLAR_ENST00000457277.1_Missense_Mutation_p.K381R	NM_001202515.1|NM_003879.5	NP_001189444.1|NP_003870.4	O15519	CFLAR_HUMAN	CASP8 and FADD-like apoptosis regulator	381	Interaction with TRAF1 and TRAF2.|Interaction with caspase-3.|Interaction with caspase-8 subunits p18 and p10.|Interaction with caspase-8.|Not proteolytically processed and involved in apoptosis inhibition.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of myoblast fusion (GO:1901740)|positive regulation of catalytic activity (GO:0043085)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of necroptotic process (GO:0060544)|regulation of satellite cell proliferation (GO:0014842)|skeletal muscle atrophy (GO:0014732)|skeletal muscle tissue development (GO:0007519)|skeletal muscle tissue regeneration (GO:0043403)|skeletal myofibril assembly (GO:0014866)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|ripoptosome (GO:0097342)	cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|enzyme activator activity (GO:0008047)|protease binding (GO:0002020)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|stomach(1)	13						CCAGCGATGAAGAATGTGGAA	0.537																																					p.K381R	Pancreas(16;548 657 22190 32864 42338)	Atlas-SNP	.											.	CFLAR	37	.	0			c.A1142G						.						48.0	50.0	49.0					2																	202025503		2203	4300	6503	SO:0001583	missense	8837	exon9			CGATGAAGAATGT	AF005774	CCDS2337.1, CCDS46487.1, CCDS56157.1, CCDS56158.1, CCDS59436.1	2q33-q34	2014-01-30			ENSG00000003402	ENSG00000003402		"""Endogenous ligands"""	1876	protein-coding gene	gene with protein product		603599		CASP8AP1		9208847, 9217161	Standard	NM_003879		Approved	CASH, Casper, CLARP, FLAME, FLIP, I-FLICE, MRIT, c-FLIP	uc002uxb.4	O15519	OTTHUMG00000132819	ENST00000309955.3:c.1142A>G	chr2.hg19:g.202025503A>G	ENSP00000312455:p.Lys381Arg	101.0	0.0		89.0	4.0	NM_003879	B4DJE0|B7Z9F9|O14673|O14674|O14675|O15137|O15138|O15356|O15510|O43618|O43619|O43620|O60458|O60459|Q53TS6|Q54AF1|Q96TE4|Q9UEW1	Missense_Mutation	SNP	ENST00000309955.3	hg19	CCDS2337.1	.	.	.	.	.	.	.	.	.	.	A	12.73	2.025136	0.35701	.	.	ENSG00000003402	ENST00000309955;ENST00000443227;ENST00000340870;ENST00000343375;ENST00000341582;ENST00000423241;ENST00000457277	T;T;T;T;T;T	0.22539	1.95;1.95;1.95;1.95;1.95;1.95	5.19	-5.55	0.02536	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (1);	1.496790	0.03221	N	0.177577	T	0.23886	0.0578	M	0.67953	2.075	0.09310	N	1	B;P;P;P	0.39920	0.134;0.646;0.589;0.695	B;B;B;B	0.43331	0.041;0.292;0.167;0.416	T	0.30563	-0.9974	10	0.21540	T	0.41	-0.0209	6.252	0.20852	0.332:0.358:0.3101:0.0	.	285;381;346;381	O15519-3;O15519-11;O15519-8;O15519	.;.;.;CFLAR_HUMAN	R	381;285;381;267;346;381;381	ENSP00000312455:K381R;ENSP00000413270:K285R;ENSP00000339326:K381R;ENSP00000345807:K346R;ENSP00000399420:K381R;ENSP00000411535:K381R	ENSP00000312455:K381R	K	+	2	0	CFLAR	201733748	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.439000	0.06897	-1.242000	0.02523	-0.375000	0.07067	AAG	.	.		0.537	CFLAR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256276.3	NM_003879	
CDK5R2	8941	hgsc.bcm.edu	37	2	219825610	219825610	+	Silent	SNP	C	C	T			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr2:219825610C>T	ENST00000302625.4	+	1	1234	c.1068C>T	c.(1066-1068)gcC>gcT	p.A356A	AC097468.7_ENST00000429343.1_RNA	NM_003936.4	NP_003927.1	Q13319	CD5R2_HUMAN	cyclin-dependent kinase 5, regulatory subunit 2 (p39)	356					cerebellum development (GO:0021549)|hippocampus development (GO:0021766)|layer formation in cerebral cortex (GO:0021819)|neuron migration (GO:0001764)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|superior olivary nucleus maturation (GO:0021722)	cyclin-dependent protein kinase 5 holoenzyme complex (GO:0016533)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	cyclin-dependent protein kinase 5 activator activity (GO:0016534)|lipid binding (GO:0008289)			central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	8		Renal(207;0.0474)		Epithelial(149;9.77e-07)|all cancers(144;0.000167)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCTGCGCGGCCGGAACCAAGC	0.751																																					p.A356A		Atlas-SNP	.											CDK5R2,right_lower_lobe,carcinoma,0,1	CDK5R2	17	.	0			c.C1068T						.						5.0	5.0	5.0					2																	219825610		1151	2692	3843	SO:0001819	synonymous_variant	8941	exon1			CGCGGCCGGAACC	U34051	CCDS2427.1	2q35	2008-05-22			ENSG00000171450	ENSG00000171450			1776	protein-coding gene	gene with protein product	"""neuronal CDK5 activator isoform"""	603764				7592934	Standard	NM_003936		Approved	p39nck5ai, P39, NCK5AI	uc002vjf.4	Q13319	OTTHUMG00000133083	ENST00000302625.4:c.1068C>T	chr2.hg19:g.219825610C>T		13.0	0.0		25.0	2.0	NM_003936	Q4ZFW6	Silent	SNP	ENST00000302625.4	hg19	CCDS2427.1																																																																																			.	.		0.751	CDK5R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256728.1	NM_003936	
CCDC140	151278	hgsc.bcm.edu	37	2	223169002	223169002	+	Silent	SNP	T	T	C			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr2:223169002T>C	ENST00000295226.1	+	2	765	c.381T>C	c.(379-381)acT>acC	p.T127T		NM_153038.1	NP_694583.1	Q96MF4	CC140_HUMAN	coiled-coil domain containing 140	127										endometrium(4)|large_intestine(1)|prostate(1)	6		Renal(207;0.0376)		Epithelial(121;4.03e-10)|all cancers(144;1.8e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGACACGTACTCTCCCGACCC	0.547																																					p.T127T		Atlas-SNP	.											.	CCDC140	20	.	0			c.T381C						.						23.0	27.0	26.0					2																	223169002		2203	4300	6503	SO:0001819	synonymous_variant	151278	exon2			ACGTACTCTCCCG	AK057009	CCDS2452.1	2q36.1	2008-02-05			ENSG00000163081	ENSG00000163081			26514	protein-coding gene	gene with protein product							Standard	NM_153038		Approved	FLJ32447	uc002vnb.1	Q96MF4	OTTHUMG00000133154	ENST00000295226.1:c.381T>C	chr2.hg19:g.223169002T>C		92.0	0.0		84.0	4.0	NM_153038		Silent	SNP	ENST00000295226.1	hg19	CCDS2452.1																																																																																			.	.		0.547	CCDC140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256854.1	NM_153038	
SP110	3431	hgsc.bcm.edu	37	2	231048350	231048350	+	Missense_Mutation	SNP	T	T	C			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr2:231048350T>C	ENST00000358662.4	-	12	1364	c.1286A>G	c.(1285-1287)aAa>aGa	p.K429R	SP110_ENST00000540870.1_Missense_Mutation_p.K435R|SP110_ENST00000392048.3_Missense_Mutation_p.K427R|SP110_ENST00000338556.3_Missense_Mutation_p.K131R|SP110_ENST00000258381.6_Missense_Mutation_p.K429R|SP110_ENST00000258382.5_Missense_Mutation_p.K429R	NM_004509.3	NP_004500	Q9HB58	SP110_HUMAN	SP110 nuclear body protein	429					regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)		TTTCTCCTTTTTCTTTTCTAA	0.363																																					p.K435R		Atlas-SNP	.											.	SP110	105	.	0			c.A1304G						.						141.0	146.0	144.0					2																	231048350		2203	4300	6503	SO:0001583	missense	3431	exon13			TCCTTTTTCTTTT	L22343	CCDS2474.1, CCDS2475.1, CCDS2476.1, CCDS54435.1	2q37.1	2014-09-17	2001-12-19	2001-12-20	ENSG00000135899	ENSG00000135899			5401	protein-coding gene	gene with protein product		604457	"""interferon-induced protein 41, 30kD"""	IFI41, IFI75		7693701, 10388521	Standard	NM_080424		Approved		uc002vqg.3	Q9HB58	OTTHUMG00000133204	ENST00000358662.4:c.1286A>G	chr2.hg19:g.231048350T>C	ENSP00000351488:p.Lys429Arg	102.0	0.0		76.0	4.0	NM_001185015	B4DVI4|F5H1M1|Q14976|Q14977|Q53TG2|Q8WUZ6|Q9HCT8	Missense_Mutation	SNP	ENST00000358662.4	hg19	CCDS2474.1	.	.	.	.	.	.	.	.	.	.	T	3.923	-0.017702	0.07681	.	.	ENSG00000135899	ENST00000258381;ENST00000358662;ENST00000392048;ENST00000258382;ENST00000540870;ENST00000338556	T;T;T;T;T;T	0.69175	0.87;0.76;-0.38;-0.36;-0.36;2.32	2.56	-3.31	0.04988	.	3.290600	0.01509	N	0.017822	T	0.42653	0.1212	N	0.11427	0.14	0.09310	N	1	B;B;B;B;B	0.14805	0.011;0.001;0.011;0.006;0.011	B;B;B;B;B	0.12837	0.008;0.001;0.008;0.003;0.005	T	0.13229	-1.0517	10	0.25106	T	0.35	.	3.2332	0.06756	0.202:0.3928:0.0:0.4052	.	427;131;435;429;429	G5E9C0;E7ER70;F5H1M1;Q9HB58;Q9HB58-6	.;.;.;SP110_HUMAN;.	R	429;429;427;429;435;131	ENSP00000258381:K429R;ENSP00000351488:K429R;ENSP00000375902:K427R;ENSP00000258382:K429R;ENSP00000439558:K435R;ENSP00000344049:K131R	ENSP00000258381:K429R	K	-	2	0	SP110	230756594	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	-0.875000	0.04205	-0.740000	0.04803	-0.388000	0.06559	AAA	.	.		0.363	SP110-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000332414.1	NM_080424	
EFHD1	80303	hgsc.bcm.edu	37	2	233546307	233546307	+	Missense_Mutation	SNP	T	T	C			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr2:233546307T>C	ENST00000264059.3	+	4	1075	c.598T>C	c.(598-600)Tca>Cca	p.S200P	snoU13_ENST00000459149.1_RNA|EFHD1_ENST00000410095.1_Missense_Mutation_p.S88P|EFHD1_ENST00000409613.1_Missense_Mutation_p.S104P|EFHD1_ENST00000409708.1_Missense_Mutation_p.S88P	NM_025202.3	NP_079478.1	Q9BUP0	EFHD1_HUMAN	EF-hand domain family, member D1	200					neuron projection development (GO:0031175)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|large_intestine(2)|lung(3)	7		all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Breast(86;0.0199)|Renal(207;0.025)		Epithelial(121;2.08e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00825)|Lung(119;0.0101)		CCAAGCCTTGTCATCGGCCAG	0.562																																					p.S200P		Atlas-SNP	.											.	EFHD1	28	.	0			c.T598C						.						162.0	147.0	152.0					2																	233546307		2203	4300	6503	SO:0001583	missense	80303	exon4			GCCTTGTCATCGG		CCDS2497.1, CCDS58755.1	2q37.1	2014-07-01	2005-01-25		ENSG00000115468	ENSG00000115468		"""EF-hand domain containing"""	29556	protein-coding gene	gene with protein product	"""swiprosin-2"""	611617	"""EF hand domain containing 1"""			21244694	Standard	NM_025202		Approved	FLJ13612	uc002vtc.3	Q9BUP0	OTTHUMG00000133263	ENST00000264059.3:c.598T>C	chr2.hg19:g.233546307T>C	ENSP00000264059:p.Ser200Pro	97.0	0.0		112.0	5.0	NM_025202	B2RD83|E9PFH3|Q9BTF8|Q9H8I2|Q9HBQ0	Missense_Mutation	SNP	ENST00000264059.3	hg19	CCDS2497.1	.	.	.	.	.	.	.	.	.	.	.	14.90	2.674626	0.47781	.	.	ENSG00000115468	ENST00000409613;ENST00000264059;ENST00000540187;ENST00000409708;ENST00000410095	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	5.65	-2.08	0.07254	.	0.172007	0.52532	D	0.000062	T	0.45756	0.1358	M	0.80183	2.485	0.51233	D	0.999912	B;P	0.48016	0.181;0.904	B;P	0.46362	0.092;0.514	T	0.50039	-0.8874	10	0.49607	T	0.09	-1.359	10.6429	0.45602	0.1084:0.0:0.5185:0.3731	.	104;200	E9PFH3;Q9BUP0	.;EFHD1_HUMAN	P	104;200;103;88;88	ENSP00000386556:S104P;ENSP00000264059:S200P;ENSP00000386243:S88P;ENSP00000386685:S88P	ENSP00000264059:S200P	S	+	1	0	EFHD1	233254551	0.943000	0.32029	0.148000	0.22405	0.658000	0.38924	0.416000	0.21198	-0.616000	0.05671	0.477000	0.44152	TCA	.	.		0.562	EFHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257040.2	NM_025202	
USP40	55230	hgsc.bcm.edu	37	2	234436105	234436105	+	Missense_Mutation	SNP	A	A	G			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr2:234436105A>G	ENST00000427112.2	-	12	1705	c.1670T>C	c.(1669-1671)tTg>tCg	p.L557S	USP40_ENST00000251722.6_Missense_Mutation_p.L557S|USP40_ENST00000450966.1_Missense_Mutation_p.L569S			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	557					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		ATCAAAGGTCAAATCCCACAC	0.423																																					p.L569S		Atlas-SNP	.											.	USP40	174	.	0			c.T1706C						.						87.0	81.0	83.0					2																	234436105		1856	4100	5956	SO:0001583	missense	55230	exon12			AAGGTCAAATCCC	AK001647	CCDS46547.1	2q37.1	2005-08-08	2005-08-08		ENSG00000085982	ENSG00000085982		"""Ubiquitin-specific peptidases"""	20069	protein-coding gene	gene with protein product		610570	"""ubiquitin specific protease 40"""			12838346	Standard	NM_018218		Approved	FLJ10785	uc010zmr.2	Q9NVE5	OTTHUMG00000153199	ENST00000427112.2:c.1670T>C	chr2.hg19:g.234436105A>G	ENSP00000387898:p.Leu557Ser	82.0	0.0		69.0	4.0	NM_018218	Q6NX38|Q70EL0	Missense_Mutation	SNP	ENST00000427112.2	hg19	CCDS46547.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.296956	0.81025	.	.	ENSG00000085982	ENST00000450966;ENST00000251722;ENST00000427112	T;T;T	0.07908	3.15;3.16;3.16	4.96	4.96	0.65561	.	0.642393	0.14271	N	0.330148	T	0.29355	0.0731	M	0.71581	2.175	0.46437	D	0.999042	D;D	0.89917	1.0;1.0	D;D	0.79108	0.981;0.992	T	0.01185	-1.1425	10	0.87932	D	0	.	14.9203	0.70832	1.0:0.0:0.0:0.0	.	557;569	Q9NVE5;Q9NVE5-3	UBP40_HUMAN;.	S	569;557;557	ENSP00000415434:L569S;ENSP00000251722:L557S;ENSP00000387898:L557S	ENSP00000251722:L557S	L	-	2	0	USP40	234100844	1.000000	0.71417	0.966000	0.40874	0.939000	0.58152	7.015000	0.76387	1.995000	0.58328	0.482000	0.46254	TTG	.	.		0.423	USP40-017	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397235.1	XM_114294	
MTERF4	130916	hgsc.bcm.edu	37	2	242035461	242035461	+	Missense_Mutation	SNP	G	G	C	rs548736677|rs112664190|rs376381853	byFrequency	TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr2:242035461G>C	ENST00000391980.2	-	4	1156	c.1098C>G	c.(1096-1098)gaC>gaG	p.D366E	MTERFD2_ENST00000495694.1_Intron|MTERFD2_ENST00000406593.1_Missense_Mutation_p.D178E|MTERFD2_ENST00000464344.2_Intron	NM_182501.3	NP_872307.2	Q7Z6M4	MTEF4_HUMAN		366					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)	rRNA binding (GO:0019843)			endometrium(3)|large_intestine(6)|lung(5)|ovary(1)|skin(2)|urinary_tract(3)	20		all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886)		cctccgcctcgtcgtcgtcct	0.498																																					p.D366E		Atlas-SNP	.											MTERFD2,NS,carcinoma,0,1	MTERFD2	33	.	0			c.C1098G						.						315.0	235.0	262.0					2																	242035461		2203	4300	6503	SO:0001583	missense	130916	exon4			CGCCTCGTCGTCG																												ENST00000391980.2:c.1098C>G	chr2.hg19:g.242035461G>C	ENSP00000375840:p.Asp366Glu	86.0	0.0		111.0	10.0	NM_182501	A8K6K0|Q9P0E0	Missense_Mutation	SNP	ENST00000391980.2	hg19	CCDS2544.1	.	.	.	.	.	.	.	.	.	.	G	4.181	0.032249	0.08101	.	.	ENSG00000122085	ENST00000391980;ENST00000406593	T;T	0.21543	2.0;2.0	1.45	-2.91	0.05631	.	.	.	.	.	T	0.08268	0.0206	N	0.08118	0	0.18873	N	0.999987	B	0.02656	0.0	B	0.01281	0.0	T	0.27673	-1.0067	9	0.87932	D	0	.	1.4038	0.02276	0.1914:0.4333:0.2001:0.1752	.	366	Q7Z6M4	MTER2_HUMAN	E	366;178	ENSP00000375840:D366E;ENSP00000384998:D178E	ENSP00000241527:D366E	D	-	3	2	MTERFD2	241684134	0.000000	0.05858	0.004000	0.12327	0.006000	0.05464	-1.757000	0.01811	-1.172000	0.02762	-1.398000	0.01145	GAC	.	.		0.498	MTERFD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323798.4		
ATP2B2	491	hgsc.bcm.edu	37	3	10443863	10443863	+	Silent	SNP	T	T	C			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr3:10443863T>C	ENST00000352432.4	-	3	636	c.567A>G	c.(565-567)gaA>gaG	p.E189E	ATP2B2_ENST00000397077.1_Silent_p.E189E|ATP2B2_ENST00000343816.4_Silent_p.E189E|ATP2B2_ENST00000360273.2_Silent_p.E189E|ATP2B2_ENST00000383800.4_Silent_p.E189E			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	189					auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						TAAATTTCTGTTCCTGCTCGA	0.557																																					p.E189E	Ovarian(125;1619 1709 15675 19819 38835)	Atlas-SNP	.											.	ATP2B2	304	.	0			c.A567G						.						138.0	150.0	146.0					3																	10443863		2203	4300	6503	SO:0001819	synonymous_variant	491	exon4			TTTCTGTTCCTGC	X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"""ATPases / P-type"""	815	protein-coding gene	gene with protein product	"""plasma membrane Ca2+ pump 2"", ""plasma membrane calcium-transporting ATPase 2"""	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.567A>G	chr3.hg19:g.10443863T>C		98.0	0.0		85.0	4.0	NM_001683	O00766|Q12994|Q16818	Silent	SNP	ENST00000352432.4	hg19	CCDS33701.1																																																																																			.	.		0.557	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250576.2	NM_001683	
ANKRD28	23243	hgsc.bcm.edu	37	3	15727529	15727529	+	Missense_Mutation	SNP	T	T	C			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr3:15727529T>C	ENST00000399451.2	-	20	2426	c.2059A>G	c.(2059-2061)Agg>Ggg	p.R687G	ANKRD28_ENST00000383777.1_Missense_Mutation_p.R720G|ANKRD28_ENST00000497037.1_5'UTR	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN	ankyrin repeat domain 28	687						nucleus (GO:0005634)				breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						AACGCTGTCCTTCCCCACTTA	0.418																																					p.R687G		Atlas-SNP	.											.	ANKRD28	121	.	0			c.A2059G						.						129.0	117.0	121.0					3																	15727529		2000	4193	6193	SO:0001583	missense	23243	exon20			CTGTCCTTCCCCA	AY367056	CCDS46769.1, CCDS74908.1	3p25.1	2013-01-10			ENSG00000206560	ENSG00000206560		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	29024	protein-coding gene	gene with protein product	"""phosphatase interactor targeting K protein"", ""protein phosphatase 6 ankyrin repeat subunit A"", ""protein phosphatase 1, regulatory subunit 65"""	611122				9205841	Standard	NM_015199		Approved	KIAA0379, PITK, PP6-ARS-A, PPP1R65	uc003caj.1	O15084	OTTHUMG00000155379	ENST00000399451.2:c.2059A>G	chr3.hg19:g.15727529T>C	ENSP00000382379:p.Arg687Gly	99.0	0.0		99.0	4.0	NM_015199	B4DES5|Q1WWL4|Q29RW6|Q3B857|Q6ULS0|Q6ZT57	Missense_Mutation	SNP	ENST00000399451.2	hg19	CCDS46769.1	.	.	.	.	.	.	.	.	.	.	T	15.07	2.723080	0.48728	.	.	ENSG00000206560	ENST00000399451;ENST00000383777;ENST00000412318	T;T;T	0.16073	2.37;2.37;2.37	5.61	3.17	0.36434	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.15435	0.0372	L	0.41492	1.28	0.58432	D	0.999998	P;P;P	0.49783	0.851;0.928;0.714	B;B;B	0.42959	0.359;0.403;0.28	T	0.02232	-1.1191	10	0.26408	T	0.33	.	12.9998	0.58667	0.0:0.0:0.4107:0.5893	.	720;717;687	O15084-1;O15084-4;O15084	.;.;ANR28_HUMAN	G	687;720;687	ENSP00000382379:R687G;ENSP00000373287:R720G;ENSP00000397341:R687G	ENSP00000373287:R720G	R	-	1	2	ANKRD28	15702533	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	1.532000	0.36029	0.379000	0.24794	0.460000	0.39030	AGG	.	.		0.418	ANKRD28-003	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339758.1	NM_015199	
SATB1	6304	hgsc.bcm.edu	37	3	18438761	18438761	+	Missense_Mutation	SNP	T	T	C			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr3:18438761T>C	ENST00000338745.6	-	6	2395	c.661A>G	c.(661-663)Aac>Gac	p.N221D	SATB1_ENST00000475083.1_5'UTR|SATB1_ENST00000417717.2_Missense_Mutation_p.N221D|TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000454909.2_Missense_Mutation_p.N221D	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	221					activated T cell proliferation (GO:0050798)|apoptotic process (GO:0006915)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|epidermis development (GO:0008544)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|reflex (GO:0060004)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						TAAGTACTGTTCACAATGGAA	0.373																																					p.N221D		Atlas-SNP	.											.	SATB1	96	.	0			c.A661G						.						167.0	153.0	157.0					3																	18438761		2203	4300	6503	SO:0001583	missense	6304	exon6			TACTGTTCACAAT		CCDS2631.1, CCDS56242.1	3p24.3	2011-07-19	2007-02-15		ENSG00000182568	ENSG00000182568		"""Homeoboxes / CUT class"""	10541	protein-coding gene	gene with protein product		602075	"""special AT-rich sequence binding protein 1 (binds to nuclear matrix/scaffold-associating DNA)"""			1505028	Standard	NM_002971		Approved		uc003cbj.3	Q01826	OTTHUMG00000129890	ENST00000338745.6:c.661A>G	chr3.hg19:g.18438761T>C	ENSP00000341024:p.Asn221Asp	112.0	0.0		96.0	5.0	NM_002971	B3KXF1|C9JTR6|Q59EQ0	Missense_Mutation	SNP	ENST00000338745.6	hg19	CCDS2631.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.337018	0.81801	.	.	ENSG00000182568	ENST00000338745;ENST00000454909;ENST00000417717;ENST00000440737	D;D;D;D	0.82526	-1.62;-1.62;-1.62;-1.62	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	D	0.89904	0.6850	M	0.61703	1.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.90461	0.4446	10	0.62326	D	0.03	-16.4015	16.3291	0.83001	0.0:0.0:0.0:1.0	.	221;221	Q01826-2;Q01826	.;SATB1_HUMAN	D	221	ENSP00000341024:N221D;ENSP00000399708:N221D;ENSP00000399518:N221D;ENSP00000402982:N221D	ENSP00000341024:N221D	N	-	1	0	SATB1	18413765	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.013000	0.88655	2.257000	0.74773	0.528000	0.53228	AAC	.	.		0.373	SATB1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252138.4	NM_001131010	
SGOL1	151648	hgsc.bcm.edu	37	3	20219761	20219761	+	Splice_Site	SNP	A	A	G			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr3:20219761A>G	ENST00000263753.4	-	4	556		c.e4+1		SGOL1_ENST00000421451.1_Splice_Site|SGOL1_ENST00000417364.1_Splice_Site|SGOL1_ENST00000425061.1_Splice_Site|SGOL1_ENST00000443724.1_Splice_Site|SGOL1_ENST00000412868.1_Splice_Site|SGOL1_ENST00000452020.1_Splice_Site|SGOL1_ENST00000437051.1_Splice_Site|SGOL1-AS1_ENST00000448208.1_RNA|SGOL1-AS1_ENST00000441442.1_RNA|SGOL1_ENST00000419233.2_Splice_Site|SGOL1_ENST00000442720.1_Splice_Site|SGOL1_ENST00000383774.1_Splice_Site|SGOL1_ENST00000412997.1_Splice_Site|SGOL1_ENST00000306698.2_Splice_Site|SGOL1_ENST00000429446.3_Splice_Site	NM_001012410.3|NM_001199252.1	NP_001012410.1|NP_001186181.1	Q5FBB7	SGOL1_HUMAN	shugoshin-like 1 (S. pombe)						attachment of spindle microtubules to kinetochore (GO:0008608)|centriole-centriole cohesion (GO:0010457)|chromosome segregation (GO:0007059)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|chromosome, centromeric region (GO:0000775)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)|spindle pole (GO:0000922)	kinase binding (GO:0019900)			kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2)	14						TTTGATACTAACGGTAAATCC	0.303																																					.		Atlas-SNP	.											SGOL1,NS,carcinoma,0,1	SGOL1	55	.	0			c.416+2T>C						.						75.0	78.0	77.0					3																	20219761		2202	4297	6499	SO:0001630	splice_region_variant	151648	exon5			ATACTAACGGTAA	BC001339	CCDS2635.1, CCDS33716.1, CCDS46771.1, CCDS46772.1, CCDS46773.1, CCDS46774.1, CCDS56243.1	3p24.3	2005-07-27			ENSG00000129810	ENSG00000129810			25088	protein-coding gene	gene with protein product		609168				12747765	Standard	NM_001199251		Approved	NY-BR-85	uc003cbu.3	Q5FBB7	OTTHUMG00000130479	ENST00000263753.4:c.416+1T>C	chr3.hg19:g.20219761A>G		44.0	0.0		49.0	2.0	NM_001199254	Q588H5|Q5FBB4|Q5FBB5|Q5FBB6|Q5FBB8|Q8N579|Q8WVL0|Q9BVA8|Q9H275	Splice_Site	SNP	ENST00000263753.4	hg19	CCDS33716.1	.	.	.	.	.	.	.	.	.	.	A	19.45	3.829127	0.71258	.	.	ENSG00000129810	ENST00000306698;ENST00000419233;ENST00000263753;ENST00000383774;ENST00000425061;ENST00000443724;ENST00000421451;ENST00000452020;ENST00000442720;ENST00000412997;ENST00000437051;ENST00000412868;ENST00000429446;ENST00000417364	.	.	.	5.93	5.93	0.95920	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.7684	0.57405	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SGOL1	20194765	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	4.247000	0.58750	2.263000	0.75096	0.533000	0.62120	.	.	.		0.303	SGOL1-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000340498.1	NM_138484	Intron
OXSR1	9943	hgsc.bcm.edu	37	3	38289195	38289195	+	Missense_Mutation	SNP	A	A	G			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr3:38289195A>G	ENST00000446845.1	+	14	1666	c.1294A>G	c.(1294-1296)Atc>Gtc	p.I432V	OXSR1_ENST00000311806.3_Missense_Mutation_p.I432V					oxidative stress responsive 1											skin(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		AGAAACCAAGATCCCAATCAG	0.368																																					p.I432V		Atlas-SNP	.											.	OXSR1	74	.	0			c.A1294G						.						134.0	118.0	124.0					3																	38289195		2203	4300	6503	SO:0001583	missense	9943	exon14			ACCAAGATCCCAA	AB017642	CCDS2675.1	3p22.2	2013-05-17	2013-05-17	2004-11-26	ENSG00000172939	ENSG00000172939			8508	protein-coding gene	gene with protein product		604046	"""oxidative-stress responsive 1"""	OSR1		10083736	Standard	XM_005265638		Approved	KIAA1101	uc003chy.3	O95747	OTTHUMG00000131084	ENST00000446845.1:c.1294A>G	chr3.hg19:g.38289195A>G	ENSP00000415851:p.Ile432Val	149.0	0.0		113.0	5.0	NM_005109		Missense_Mutation	SNP	ENST00000446845.1	hg19		.	.	.	.	.	.	.	.	.	.	A	2.398	-0.338163	0.05278	.	.	ENSG00000172939	ENST00000446845;ENST00000311806	T;T	0.70749	-0.51;-0.51	5.57	-1.02	0.10135	.	0.501569	0.23489	N	0.047639	T	0.47358	0.1441	N	0.14661	0.345	0.32268	N	0.569284	B	0.02656	0.0	B	0.04013	0.001	T	0.39941	-0.9589	10	0.27082	T	0.32	-4.8448	10.0221	0.42048	0.5459:0.0:0.4541:0.0	.	432	O95747	OXSR1_HUMAN	V	432	ENSP00000415851:I432V;ENSP00000311713:I432V	ENSP00000311713:I432V	I	+	1	0	OXSR1	38264199	0.998000	0.40836	0.998000	0.56505	0.981000	0.71138	0.357000	0.20199	-0.074000	0.12820	-0.256000	0.11100	ATC	.	.		0.368	OXSR1-004	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000342708.1	NM_005109	
TMEM42	131616	hgsc.bcm.edu	37	3	44906569	44906569	+	Missense_Mutation	SNP	A	A	G			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr3:44906569A>G	ENST00000302392.4	+	3	433	c.377A>G	c.(376-378)gAg>gGg	p.E126G		NM_144638.1	NP_653239.1	Q69YG0	TMM42_HUMAN	transmembrane protein 42	126						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	8				BRCA - Breast invasive adenocarcinoma(193;0.00839)|KIRC - Kidney renal clear cell carcinoma(197;0.0461)|Kidney(197;0.0576)		GAGTGCCAGGAGGTCTTGTGG	0.567																																					p.E126G		Atlas-SNP	.											.	TMEM42	15	.	0			c.A377G						.						210.0	163.0	179.0					3																	44906569		2203	4300	6503	SO:0001583	missense	131616	exon3			GCCAGGAGGTCTT	AL834253	CCDS2722.1	3p21.31	2005-01-19			ENSG00000169964	ENSG00000169964			28444	protein-coding gene	gene with protein product						12477932	Standard	NM_144638		Approved	MGC29956	uc003cnz.3	Q69YG0	OTTHUMG00000133092	ENST00000302392.4:c.377A>G	chr3.hg19:g.44906569A>G	ENSP00000306564:p.Glu126Gly	127.0	0.0		143.0	6.0	NM_144638	Q8WUQ6	Missense_Mutation	SNP	ENST00000302392.4	hg19	CCDS2722.1	.	.	.	.	.	.	.	.	.	.	A	12.33	1.906398	0.33628	.	.	ENSG00000169964	ENST00000302392	T	0.67345	-0.26	4.6	0.693	0.18056	.	0.428373	0.21492	N	0.073670	T	0.40979	0.1139	N	0.14661	0.345	0.09310	N	0.999997	B	0.26195	0.144	B	0.21546	0.035	T	0.16276	-1.0408	10	0.25106	T	0.35	-7.2232	5.7447	0.18114	0.4421:0.4541:0.1037:0.0	.	126	Q69YG0	TMM42_HUMAN	G	126	ENSP00000306564:E126G	ENSP00000306564:E126G	E	+	2	0	TMEM42	44881573	1.000000	0.71417	0.948000	0.38648	0.997000	0.91878	2.575000	0.46025	0.267000	0.21916	0.459000	0.35465	GAG	.	.		0.567	TMEM42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256750.2	NM_144638	
BSN	8927	hgsc.bcm.edu	37	3	49693795	49693795	+	Missense_Mutation	SNP	T	T	C			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr3:49693795T>C	ENST00000296452.4	+	5	6920	c.6806T>C	c.(6805-6807)aTt>aCt	p.I2269T		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	2269					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		AGATTTCCCATTGCTTCCAGT	0.607																																					p.I2269T		Atlas-SNP	.											.	BSN	272	.	0			c.T6806C						.						79.0	81.0	80.0					3																	49693795		2203	4300	6503	SO:0001583	missense	8927	exon5			TTCCCATTGCTTC	AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"""zinc finger protein 231"", ""neuronal double zinc finger protein"""	604020	"""bassoon (presynaptic cytomatrix protein)"""	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.6806T>C	chr3.hg19:g.49693795T>C	ENSP00000296452:p.Ile2269Thr	111.0	0.0		85.0	4.0	NM_003458	O43161|Q7LGH3	Missense_Mutation	SNP	ENST00000296452.4	hg19	CCDS2800.1	.	.	.	.	.	.	.	.	.	.	T	3.789	-0.044123	0.07452	.	.	ENSG00000164061	ENST00000296452	T	0.16897	2.31	5.86	4.9	0.64082	.	0.584497	0.18802	N	0.130746	T	0.05135	0.0137	N	0.01352	-0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38329	-0.9666	10	0.14252	T	0.57	-0.0012	6.8536	0.24028	0.0:0.834:0.0:0.166	.	2269	Q9UPA5	BSN_HUMAN	T	2269	ENSP00000296452:I2269T	ENSP00000296452:I2269T	I	+	2	0	BSN	49668799	0.021000	0.18746	0.003000	0.11579	0.973000	0.67179	2.188000	0.42612	1.280000	0.44463	0.533000	0.62120	ATT	.	.		0.607	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458	
ITIH1	3697	hgsc.bcm.edu	37	3	52818435	52818435	+	Missense_Mutation	SNP	A	A	G			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr3:52818435A>G	ENST00000273283.2	+	11	1373	c.1349A>G	c.(1348-1350)gAg>gGg	p.E450G	ITIH1_ENST00000537050.1_Missense_Mutation_p.E162G|ITIH1_ENST00000542827.1_Missense_Mutation_p.E450G|ITIH1_ENST00000540715.1_Missense_Mutation_p.E308G	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	450	Hyaluronan-binding.|VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				hyaluronan metabolic process (GO:0030212)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		ATGTCCATGGAGAACAACGGA	0.572																																					p.E450G		Atlas-SNP	.											.	ITIH1	108	.	0			c.A1349G						.						115.0	105.0	108.0					3																	52818435		2203	4300	6503	SO:0001583	missense	3697	exon11			CCATGGAGAACAA		CCDS2864.1, CCDS54595.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055957	ENSG00000055957			6166	protein-coding gene	gene with protein product		147270	"""inter-alpha (globulin) inhibitor, H1 polypeptide"""			1385302, 10100603	Standard	NM_002215		Approved	H1P, IATIH, ITIH	uc003dfs.3	P19827	OTTHUMG00000150312	ENST00000273283.2:c.1349A>G	chr3.hg19:g.52818435A>G	ENSP00000273283:p.Glu450Gly	133.0	0.0		102.0	5.0	NM_002215	A8K9N5|B2RAH9|B7Z558|B7Z8C0|F5H165|F5H7Y8|P78455|Q01746|Q562G1	Missense_Mutation	SNP	ENST00000273283.2	hg19	CCDS2864.1	.	.	.	.	.	.	.	.	.	.	A	28.0	4.886160	0.91814	.	.	ENSG00000055957	ENST00000542827;ENST00000273283;ENST00000540715;ENST00000537050;ENST00000428133	D;D;D;D;T	0.83755	-1.76;-1.76;-1.76;-1.76;3.65	5.19	5.19	0.71726	von Willebrand factor, type A (3);	0.101985	0.64402	D	0.000003	D	0.91610	0.7349	M	0.86178	2.8	0.41792	D	0.989877	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.85130	0.996;0.96;0.997	D	0.93136	0.6537	10	0.87932	D	0	-46.9039	14.8792	0.70519	1.0:0.0:0.0:0.0	.	308;51;450	F5H165;Q9P1C5;P19827	.;.;ITIH1_HUMAN	G	450;450;308;162;3	ENSP00000442584:E450G;ENSP00000273283:E450G;ENSP00000443973:E308G;ENSP00000443847:E162G;ENSP00000395836:E3G	ENSP00000273283:E450G	E	+	2	0	ITIH1	52793475	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.245000	0.89825	2.187000	0.69744	0.482000	0.46254	GAG	.	.		0.572	ITIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317522.1	NM_002215	
DCP1A	55802	hgsc.bcm.edu	37	3	53324825	53324825	+	Missense_Mutation	SNP	C	C	A	rs201612547|rs527572883|rs147183966|rs71087075|rs66506434	byFrequency	TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr3:53324825C>A	ENST00000607628.1	-	8	1554	c.1445G>T	c.(1444-1446)aGt>aTt	p.S482I	RN7SL821P_ENST00000579907.1_RNA|DCP1A_ENST00000606822.1_Missense_Mutation_p.S444I|Y_RNA_ENST00000384175.1_RNA|DCP1A_ENST00000480258.1_5'UTR|DCP1A_ENST00000294241.6_Splice_Site	NM_018403.5	NP_060873.4	Q9NPI6	DCP1A_HUMAN	decapping mRNA 1A	480					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)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.000164)|KIRC - Kidney renal clear cell carcinoma(197;0.00525)|Kidney(197;0.00579)|OV - Ovarian serous cystadenocarcinoma(275;0.0647)		CGGGATGGCACTGGCACTGGA	0.363																																					.		Atlas-SNP	.											.	DCP1A	30	.	0			c.1444+1G>T						.						8.0	7.0	7.0					3																	53324825		1557	3442	4999	SO:0001583	missense	55802	exon9			ATGGCACTGGCAC	AJ275986	CCDS74946.1	3p21.1	2013-05-02	2013-05-02		ENSG00000162290	ENSG00000272886			18714	protein-coding gene	gene with protein product		607010	"""DCP1 decapping enzyme homolog A (S. cerevisiae)"""				Standard	XM_005278360		Approved	HSA275986, SMIF, SMAD4IP1	uc021wzi.1	Q9NPI6	OTTHUMG00000158193	ENST00000607628.1:c.1445G>T	chr3.hg19:g.53324825C>A	ENSP00000475920:p.Ser482Ile	7.0	0.0		21.0	8.0	NM_018403	B4DHN9|U3KQM8	Splice_Site	SNP	ENST00000607628.1	hg19																																																																																				.	.		0.363	DCP1A-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_018403	
MAGI1	9223	hgsc.bcm.edu	37	3	65376936	65376936	+	Missense_Mutation	SNP	A	A	G	rs201132775		TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr3:65376936A>G	ENST00000497477.2	-	14	2296	c.2297T>C	c.(2296-2298)gTg>gCg	p.V766A	MAGI1_ENST00000483466.1_Missense_Mutation_p.V766A|MAGI1_ENST00000402939.2_Missense_Mutation_p.V766A|MAGI1_ENST00000330909.8_Missense_Mutation_p.V766A			Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	766					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|neuron death (GO:0070997)|protein complex assembly (GO:0006461)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	alpha-actinin binding (GO:0051393)|ATP binding (GO:0005524)|protein C-terminus binding (GO:0008022)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		CTCGGGGAGCACCTGTGTGCT	0.547																																					p.V766A		Atlas-SNP	.											.	MAGI1	481	.	0			c.T2297C						.						120.0	105.0	110.0					3																	65376936		2203	4300	6503	SO:0001583	missense	9223	exon14			GGGAGCACCTGTG	AB010894	CCDS33780.1, CCDS33781.1, CCDS2904.1	3p14.1	2009-10-06	2005-05-10	2005-05-10	ENSG00000151276	ENSG00000151276			946	protein-coding gene	gene with protein product		602625	"""BAI1-associated protein 1"""	BAIAP1		9647739, 9225980	Standard	XM_005265563		Approved	BAP1, MAGI-1, TNRC19, AIP3, WWP3	uc003dmn.3	Q96QZ7	OTTHUMG00000157554	ENST00000497477.2:c.2297T>C	chr3.hg19:g.65376936A>G	ENSP00000424369:p.Val766Ala	129.0	0.0		107.0	5.0	NM_001033057	A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Missense_Mutation	SNP	ENST00000497477.2	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	4.578|4.578	0.107360|0.107360	0.08780|0.08780	.|.	.|.	ENSG00000151276|ENSG00000151276	ENST00000460329|ENST00000402939;ENST00000330909;ENST00000422949;ENST00000463103;ENST00000483466;ENST00000497477;ENST00000472257	.|T;T;T;T;T;T	.|0.16597	.|2.84;2.44;2.45;2.44;2.33;2.46	5.98|5.98	3.29|3.29	0.37713|0.37713	.|.	.|0.294450	.|0.37178	.|N	.|0.002203	T|T	0.06600|0.06600	0.0169|0.0169	N|N	0.11427|0.11427	0.14|0.14	0.42028|0.42028	D|D	0.991014|0.991014	.|B;B;B;B;B	.|0.09022	.|0.0;0.0;0.001;0.002;0.0	.|B;B;B;B;B	.|0.06405	.|0.001;0.0;0.002;0.002;0.001	T|T	0.22730|0.22730	-1.0208|-1.0208	5|10	.|0.02654	.|T	.|1	-6.8575|-6.8575	7.2112|7.2112	0.25935|0.25935	0.7306:0.1254:0.144:0.0|0.7306:0.1254:0.144:0.0	.|.	.|766;766;766;766;766	.|A8K188;Q96QZ7-4;Q96QZ7-3;Q96QZ7-2;Q96QZ7-5	.|.;.;.;.;.	R|A	647|766;766;662;641;766;766;552	.|ENSP00000385450:V766A;ENSP00000331157:V766A;ENSP00000418177:V641A;ENSP00000420323:V766A;ENSP00000424369:V766A;ENSP00000420796:V552A	.|ENSP00000331157:V766A	C|V	-|-	1|2	0|0	MAGI1|MAGI1	65351976|65351976	0.984000|0.984000	0.35163|0.35163	1.000000|1.000000	0.80357|0.80357	0.946000|0.946000	0.59487|0.59487	0.851000|0.851000	0.27751|0.27751	1.094000|1.094000	0.41399|0.41399	-0.296000|-0.296000	0.09543|0.09543	TGC|GTG	.	A|0.999;C|0.001		0.547	MAGI1-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000349132.2	NM_004742	
ROBO1	6091	hgsc.bcm.edu	37	3	78648068	78648068	+	Missense_Mutation	SNP	T	T	C			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr3:78648068T>C	ENST00000464233.1	-	31	5064	c.4951A>G	c.(4951-4953)Agc>Ggc	p.S1651G	ROBO1_ENST00000466906.1_5'Flank|ROBO1_ENST00000436010.2_Missense_Mutation_p.S1612G|ROBO1_ENST00000495273.1_Missense_Mutation_p.S1606G|ROBO1_ENST00000467549.1_Missense_Mutation_p.S1551G	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	1651					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		TGTCTTCAGCTTTCAGTTTCC	0.318																																					p.S1651G		Atlas-SNP	.											.	ROBO1	833	.	0			c.A4951G						.						185.0	175.0	178.0					3																	78648068		1847	4102	5949	SO:0001583	missense	6091	exon31			TTCAGCTTTCAGT	AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10249	protein-coding gene	gene with protein product		602430	"""roundabout (axon guidance receptor, Drosophila) homolog 1"""			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.4951A>G	chr3.hg19:g.78648068T>C	ENSP00000420321:p.Ser1651Gly	129.0	0.0		95.0	4.0	NM_002941	B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Missense_Mutation	SNP	ENST00000464233.1	hg19	CCDS54611.1	.	.	.	.	.	.	.	.	.	.	T	13.85	2.358983	0.41801	.	.	ENSG00000169855	ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000467549	T;T;T;T	0.62232	0.13;0.09;0.1;0.04	5.58	5.58	0.84498	.	.	.	.	.	T	0.66396	0.2785	N	0.19112	0.55	0.47547	D	0.999453	P;P;P;P	0.52577	0.924;0.924;0.924;0.954	P;P;P;D	0.63597	0.827;0.827;0.827;0.916	T	0.71689	-0.4517	9	0.87932	D	0	.	15.7552	0.78018	0.0:0.0:0.0:1.0	.	1651;1606;1551;1612	Q9Y6N7;B2RXI1;E9PD49;Q9Y6N7-4	ROBO1_HUMAN;.;.;.	G	1612;1606;1651;1606;1551	ENSP00000406043:S1612G;ENSP00000420321:S1651G;ENSP00000420637:S1606G;ENSP00000417992:S1551G	ENSP00000381449:S1606G	S	-	1	0	ROBO1	78730758	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.505000	0.66981	2.123000	0.65237	0.454000	0.30748	AGC	.	.		0.318	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1	NM_002941	
OR5H1	26341	hgsc.bcm.edu	37	3	97852336	97852336	+	Silent	SNP	G	G	A	rs138973744		TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr3:97852336G>A	ENST00000354565.2	+	1	795	c.795G>A	c.(793-795)ccG>ccA	p.P265P	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	265						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(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						CTGCATCTCCGCAAGCAGATG	0.438																																					p.P265P		Atlas-SNP	.											.	OR5H1	71	.	0			c.G795A						.	G		0,4404		0,0,2202	107.0	115.0	112.0		795	-7.1	0.0	3	dbSNP_134	112	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	OR5H1	NM_001005338.1		0,1,6500	AA,AG,GG		0.0116,0.0,0.0077		265/314	97852336	1,13001	2202	4299	6501	SO:0001819	synonymous_variant	26341	exon1			ATCTCCGCAAGCA	X64988	CCDS33797.1	3q12.1	2012-08-09			ENSG00000231192	ENSG00000231192		"""GPCR / Class A : Olfactory receptors"""	8346	protein-coding gene	gene with protein product						1370859	Standard	NM_001005338		Approved	HTPCRX14, HSHTPCRX14	uc011bgt.2	A6NKK0	OTTHUMG00000160070	ENST00000354565.2:c.795G>A	chr3.hg19:g.97852336G>A		238.0	0.0		208.0	54.0	NM_001005338		Silent	SNP	ENST00000354565.2	hg19	CCDS33797.1																																																																																			.	G|1.000;A|0.000		0.438	OR5H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359100.2	NM_001005338	
ALCAM	214	hgsc.bcm.edu	37	3	105268982	105268982	+	Silent	SNP	T	T	C			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr3:105268982T>C	ENST00000306107.5	+	12	1886	c.1386T>C	c.(1384-1386)tcT>tcC	p.S462S	ALCAM_ENST00000486979.2_Silent_p.S411S|ALCAM_ENST00000472644.2_Silent_p.S462S|ALCAM_ENST00000389927.4_Silent_p.S184S	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule	462	Ig-like C2-type 3.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|motor neuron axon guidance (GO:0008045)|signal transduction (GO:0007165)	axon (GO:0030424)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	receptor binding (GO:0005102)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						CAGAGGAATCTCCTTATATTA	0.343																																					p.S462S		Atlas-SNP	.											.	ALCAM	71	.	0			c.T1386C						.						97.0	120.0	112.0					3																	105268982		2197	4293	6490	SO:0001819	synonymous_variant	214	exon12			GGAATCTCCTTAT	AK054632	CCDS33810.1, CCDS58841.1	3q13.1	2013-01-29	2002-08-08		ENSG00000170017	ENSG00000170017		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	400	protein-coding gene	gene with protein product		601662	"""activated leucocyte cell adhesion molecule"""			7760007	Standard	NM_001627		Approved	CD166, MEMD	uc003dvx.3	Q13740	OTTHUMG00000159192	ENST00000306107.5:c.1386T>C	chr3.hg19:g.105268982T>C		71.0	0.0		71.0	4.0	NM_001627	B2RNS3|B4DTU0|O60892|Q1HGM8|Q1HGM9|Q6PEY4|Q6ZS95	Silent	SNP	ENST00000306107.5	hg19	CCDS33810.1	.	.	.	.	.	.	.	.	.	.	T	9.035	0.988369	0.18966	.	.	ENSG00000170017	ENST00000465413	T	0.12361	2.69	5.92	2.23	0.28157	.	0.139656	0.64402	D	0.000008	T	0.16811	0.0404	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.03043	-1.1079	7	0.49607	T	0.09	-15.8998	3.6072	0.08046	0.2623:0.2994:0.0:0.4383	.	.	.	.	P	223	ENSP00000418937:S223P	ENSP00000418937:S223P	S	+	1	0	ALCAM	106751672	0.996000	0.38824	1.000000	0.80357	0.999000	0.98932	0.143000	0.16115	0.489000	0.27749	0.528000	0.53228	TCC	.	.		0.343	ALCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353764.1	NM_001627	
PHLDB2	90102	hgsc.bcm.edu	37	3	111671430	111671430	+	Silent	SNP	T	T	C			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr3:111671430T>C	ENST00000431670.2	+	11	3054	c.2643T>C	c.(2641-2643)agT>agC	p.S881S	PHLDB2_ENST00000495180.1_Intron|PHLDB2_ENST00000481953.1_Silent_p.S838S|PHLDB2_ENST00000412622.1_Silent_p.S838S|PHLDB2_ENST00000393925.3_Silent_p.S881S|PHLDB2_ENST00000393923.3_Silent_p.S865S	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	881						cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						ACTTTAGAAGTCTGGAAGAAA	0.363																																					p.S881S		Atlas-SNP	.											.	PHLDB2	449	.	0			c.T2643C						.						105.0	106.0	106.0					3																	111671430		2203	4300	6503	SO:0001819	synonymous_variant	90102	exon11			TAGAAGTCTGGAA		CCDS2962.1, CCDS46885.1, CCDS46886.1	3q13.13	2013-01-10			ENSG00000144824	ENSG00000144824		"""Pleckstrin homology (PH) domain containing"""	29573	protein-coding gene	gene with protein product		610298				12376540	Standard	NM_145753		Approved	LL5beta, FLJ21791, LL5b	uc003dyg.3	Q86SQ0	OTTHUMG00000159282	ENST00000431670.2:c.2643T>C	chr3.hg19:g.111671430T>C		47.0	0.0		50.0	4.0	NM_001134439	A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Silent	SNP	ENST00000431670.2	hg19	CCDS46886.1																																																																																			.	.		0.363	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354337.1	NM_145753	
TIGIT	201633	hgsc.bcm.edu	37	3	114018526	114018526	+	Silent	SNP	C	C	A			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr3:114018526C>A	ENST00000486257.1	+	4	731	c.474C>A	c.(472-474)atC>atA	p.I158I	TIGIT_ENST00000383671.3_Silent_p.I158I|TIGIT_ENST00000481065.1_Silent_p.I225I			Q495A1	TIGIT_HUMAN	T cell immunoreceptor with Ig and ITIM domains	158					negative regulation of interleukin-12 production (GO:0032695)|negative regulation of T cell activation (GO:0050868)|positive regulation of interleukin-10 production (GO:0032733)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(1)	17						CAGCAGTCATCGTGGTGGTCG	0.597																																					p.I158I		Atlas-SNP	.											.	TIGIT	42	.	0			c.C474A						.						79.0	65.0	70.0					3																	114018526		2203	4300	6503	SO:0001819	synonymous_variant	201633	exon3			AGTCATCGTGGTG	AK097192	CCDS2980.1	3q13.31	2013-01-11	2008-10-13	2008-10-13	ENSG00000181847	ENSG00000181847		"""Immunoglobulin superfamily / V-set domain containing"""	26838	protein-coding gene	gene with protein product		612859	"""V-set and immunoglobulin domain containing 9"", ""V-set and transmembrane domain containing 3"""	VSIG9, VSTM3		19011627	Standard	NM_173799		Approved	FLJ39873, DKFZp667A205	uc003ebg.2	Q495A1	OTTHUMG00000159331	ENST00000486257.1:c.474C>A	chr3.hg19:g.114018526C>A		75.0	0.0		73.0	5.0	NM_173799	Q495A3|Q5JPD8|Q6MZS2|Q8N877	Silent	SNP	ENST00000486257.1	hg19	CCDS2980.1																																																																																			.	.		0.597	TIGIT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354690.1	NM_173799	
GOLGB1	2804	hgsc.bcm.edu	37	3	121411031	121411031	+	Missense_Mutation	SNP	A	A	G			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr3:121411031A>G	ENST00000340645.5	-	14	7290	c.7165T>C	c.(7165-7167)Tct>Cct	p.S2389P	GOLGB1_ENST00000393667.3_Missense_Mutation_p.S2394P	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	2389					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TCCTTGCCAGAAAGCAGGCTT	0.428																																					p.S2394P		Atlas-SNP	.											.	GOLGB1	319	.	0			c.T7180C						.						76.0	77.0	76.0					3																	121411031		2203	4300	6503	SO:0001583	missense	2804	exon14			TGCCAGAAAGCAG	X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.7165T>C	chr3.hg19:g.121411031A>G	ENSP00000341848:p.Ser2389Pro	107.0	0.0		80.0	4.0	NM_001256486	B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	ENST00000340645.5	hg19	CCDS3004.1	.	.	.	.	.	.	.	.	.	.	A	12.28	1.891885	0.33442	.	.	ENSG00000173230	ENST00000340645;ENST00000393667	T;T	0.30448	1.53;1.53	5.9	4.68	0.58851	.	0.000000	0.64402	D	0.000008	T	0.46268	0.1384	M	0.62723	1.935	0.41423	D	0.98781	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.83275	0.951;0.951;0.996	T	0.41088	-0.9528	10	0.35671	T	0.21	.	6.3569	0.21406	0.6807:0.1631:0.0:0.1562	.	2394;2394;2389	E7EP74;B2ZZ91;Q14789	.;.;GOGB1_HUMAN	P	2389;2394	ENSP00000341848:S2389P;ENSP00000377275:S2394P	ENSP00000341848:S2389P	S	-	1	0	GOLGB1	122893721	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.026000	0.49689	2.254000	0.74563	0.460000	0.39030	TCT	.	.		0.428	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487	
SMC4	10051	hgsc.bcm.edu	37	3	160148405	160148405	+	Silent	SNP	A	A	G			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr3:160148405A>G	ENST00000357388.3	+	19	3265	c.2814A>G	c.(2812-2814)caA>caG	p.Q938Q	SMC4_ENST00000360111.2_Silent_p.Q938Q|RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000344722.5_Silent_p.Q938Q|SMC4_ENST00000462787.1_Silent_p.Q938Q|SMC4_ENST00000469762.1_Silent_p.Q913Q	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	938					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)|mitotic sister chromatid segregation (GO:0000070)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			AAAAGGCACAAGACTCTGTCT	0.378																																					p.Q938Q		Atlas-SNP	.											.	SMC4	135	.	0			c.A2814G						.						76.0	80.0	78.0					3																	160148405		2203	4300	6503	SO:0001819	synonymous_variant	10051	exon18			GGCACAAGACTCT	AF092564	CCDS3189.1, CCDS75046.1	3q26.1	2006-07-06	2006-07-06	2006-07-06	ENSG00000113810	ENSG00000113810		"""Structural maintenance of chromosomes proteins"""	14013	protein-coding gene	gene with protein product		605575	"""SMC4 (structural maintenance of chromosomes 4, yeast)-like 1"", ""SMC4 structural maintenance of chromosomes 4-like 1 (yeast)"""	SMC4L1		9789013, 10319587	Standard	NM_005496		Approved	hCAP-C, CAP-C	uc003fdh.3	Q9NTJ3	OTTHUMG00000159006	ENST00000357388.3:c.2814A>G	chr3.hg19:g.160148405A>G		109.0	0.0		78.0	28.0	NM_005496	A6NLT9|D3DNL8|O95752|Q8NDL4|Q9UNT9	Silent	SNP	ENST00000357388.3	hg19	CCDS3189.1																																																																																			.	.		0.378	SMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352862.1		
GOLIM4	27333	hgsc.bcm.edu	37	3	167728183	167728183	+	Silent	SNP	T	T	C			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr3:167728183T>C	ENST00000470487.1	-	16	2654	c.1965A>G	c.(1963-1965)ggA>ggG	p.G655G	GOLIM4_ENST00000309027.4_Silent_p.G627G	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	655	Glu-rich.				transport (GO:0006810)	cis-Golgi network (GO:0005801)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CTTGCTCTTCTCCATCATTAT	0.388																																					p.G655G		Atlas-SNP	.											.	GOLIM4	71	.	0			c.A1965G						.						107.0	107.0	107.0					3																	167728183		2203	4300	6503	SO:0001819	synonymous_variant	27333	exon16			CTCTTCTCCATCA	U55853	CCDS3204.1	3q26	2007-07-30	2007-07-30	2007-07-30	ENSG00000173905	ENSG00000173905			15448	protein-coding gene	gene with protein product		606805	"""golgi phosphoprotein 4"""	GOLPH4		9201717, 15004235	Standard	NM_014498		Approved	GPP130, GIMPC, P138	uc003ffe.2	O00461	OTTHUMG00000158554	ENST00000470487.1:c.1965A>G	chr3.hg19:g.167728183T>C		77.0	0.0		71.0	4.0	NM_014498		Silent	SNP	ENST00000470487.1	hg19	CCDS3204.1																																																																																			.	.		0.388	GOLIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351278.2		
EHHADH	1962	hgsc.bcm.edu	37	3	184910635	184910635	+	Silent	SNP	T	T	C			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr3:184910635T>C	ENST00000231887.3	-	7	1626	c.1551A>G	c.(1549-1551)ggA>ggG	p.G517G	EHHADH_ENST00000456310.1_Silent_p.G421G|EHHADH-AS1_ENST00000417720.1_RNA	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	517	3-hydroxyacyl-CoA dehydrogenase.				fatty acid beta-oxidation (GO:0006635)|internal protein amino acid acetylation (GO:0006475)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisome (GO:0005777)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|coenzyme binding (GO:0050662)|dodecenoyl-CoA delta-isomerase activity (GO:0004165)|enoyl-CoA hydratase activity (GO:0004300)|enzyme binding (GO:0019899)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)			CTCTAAAAGGTCCCATTTTAA	0.458																																					p.G517G		Atlas-SNP	.											.	EHHADH	73	.	0			c.A1551G						.						71.0	69.0	70.0					3																	184910635		2203	4300	6503	SO:0001819	synonymous_variant	1962	exon7			AAAAGGTCCCATT	L07077	CCDS33901.1, CCDS54694.1	3q26.3-q28	2012-07-13	2010-04-30		ENSG00000113790	ENSG00000113790	4.2.1.17, 1.1.1.35, 5.3.3.8		3247	protein-coding gene	gene with protein product		607037	"""enoyl-Coenzyme A, hydratase/3-hydroxyacyl Coenzyme A dehydrogenase"""	ECHD		8188243	Standard	NM_001966		Approved		uc003fpf.3	Q08426	OTTHUMG00000156698	ENST00000231887.3:c.1551A>G	chr3.hg19:g.184910635T>C		154.0	0.0		143.0	6.0	NM_001966	A8K6Y3|B4DWG3|D3DNU0|Q58EZ5	Silent	SNP	ENST00000231887.3	hg19	CCDS33901.1																																																																																			.	.		0.458	EHHADH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345326.1		
MAP3K13	9175	hgsc.bcm.edu	37	3	185146486	185146486	+	Silent	SNP	T	T	C			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr3:185146486T>C	ENST00000265026.3	+	2	451	c.117T>C	c.(115-117)tcT>tcC	p.S39S	MAP3K13_ENST00000443863.1_Intron|MAP3K13_ENST00000535426.1_Intron|MAP3K13_ENST00000446828.1_Intron|MAP3K13_ENST00000424227.1_Silent_p.S39S	NM_004721.4	NP_004712.1			mitogen-activated protein kinase kinase kinase 13											NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			ACCACCCTTCTCCCAAGCTGC	0.532																																					p.S39S		Atlas-SNP	.											.	MAP3K13	209	.	0			c.T117C						.						80.0	73.0	75.0					3																	185146486		2203	4300	6503	SO:0001819	synonymous_variant	9175	exon2			CCCTTCTCCCAAG	BC031677	CCDS3270.1, CCDS56298.1	3q27	2011-06-09			ENSG00000073803	ENSG00000073803		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6852	protein-coding gene	gene with protein product	"""leucine zipper-bearing kinase"""	604915				9353328	Standard	NM_004721		Approved	LZK, MEKK13	uc003fpi.3	O43283	OTTHUMG00000156673	ENST00000265026.3:c.117T>C	chr3.hg19:g.185146486T>C		98.0	0.0		85.0	4.0	NM_004721		Silent	SNP	ENST00000265026.3	hg19	CCDS3270.1																																																																																			.	.		0.532	MAP3K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345268.1	NM_004721	
MUC4	4585	hgsc.bcm.edu	37	3	195518119	195518119	+	Missense_Mutation	SNP	A	A	T	rs201789760		TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr3:195518119A>T	ENST00000463781.3	-	2	791	c.332T>A	c.(331-333)aTg>aAg	p.M111K	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.M111K	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	111					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AGCTGTCTCCATCACATTGTG	0.463																																					p.M111K		Atlas-SNP	.											.	MUC4	1505	.	0			c.T332A						.						173.0	151.0	158.0					3																	195518119		2001	4135	6136	SO:0001583	missense	4585	exon2			GTCTCCATCACAT	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.332T>A	chr3.hg19:g.195518119A>T	ENSP00000417498:p.Met111Lys	147.0	0.0		150.0	6.0	NM_018406	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	hg19	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	-	3.439	-0.114540	0.06881	.	.	ENSG00000145113	ENST00000463781;ENST00000475231;ENST00000392409	T;T	0.32023	1.47;1.47	3.35	-0.681	0.11342	.	2.861300	0.01499	N	0.017426	T	0.13372	0.0324	N	0.08118	0	0.09310	N	1	B	0.27997	0.197	B	0.27500	0.08	T	0.14035	-1.0487	10	0.05959	T	0.93	0.0033	3.9454	0.09346	0.3204:0.1801:0.4995:0.0	.	111	E7ESK3	.	K	111;111;85	ENSP00000417498:M111K;ENSP00000420243:M111K	ENSP00000376209:M85K	M	-	2	0	MUC4	197002514	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.773000	0.01786	-0.150000	0.11195	-1.819000	0.00600	ATG	.	.		0.463	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406	
ADD1	118	hgsc.bcm.edu	37	4	2906529	2906529	+	Silent	SNP	G	G	T			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr4:2906529G>T	ENST00000398129.1	+	9	1220	c.1200G>T	c.(1198-1200)ctG>ctT	p.L400L	ADD1_ENST00000398123.2_Silent_p.L400L|ADD1_ENST00000503455.2_Silent_p.L400L|ADD1_ENST00000264758.7_Silent_p.L400L|ADD1_ENST00000513328.2_Silent_p.L400L|ADD1_ENST00000398125.1_Silent_p.L400L|ADD1_ENST00000355842.3_Silent_p.L400L|ADD1_ENST00000446856.1_Silent_p.L400L			P35611	ADDA_HUMAN	adducin 1 (alpha)	400					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|apoptotic process (GO:0006915)|barbed-end actin filament capping (GO:0051016)|cell morphogenesis (GO:0000902)|cell volume homeostasis (GO:0006884)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular protein metabolic process (GO:0044267)|cellular response to retinoic acid (GO:0071300)|endoplasmic reticulum unfolded protein response (GO:0030968)|erythrocyte differentiation (GO:0030218)|hemoglobin metabolic process (GO:0020027)|homeostasis of number of cells within a tissue (GO:0048873)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endocytosis (GO:0045807)|positive regulation of protein binding (GO:0032092)	cytosol (GO:0005829)|dendritic spine (GO:0043197)|F-actin capping protein complex (GO:0008290)|focal adhesion (GO:0005925)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)|transcription factor binding (GO:0008134)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		ACCCTGCTCTGAGAGAGAAGT	0.478																																					p.L400L	Esophageal Squamous(71;505 1201 20414 34538 37449)	Atlas-SNP	.											.	ADD1	56	.	0			c.G1200T						.						110.0	105.0	106.0					4																	2906529		2203	4300	6503	SO:0001819	synonymous_variant	118	exon10			TGCTCTGAGAGAG	L07261	CCDS3363.1, CCDS3364.1, CCDS43205.1, CCDS75094.1	4p16.3	2009-04-22			ENSG00000087274	ENSG00000087274			243	protein-coding gene	gene with protein product		102680				1840603	Standard	NM_001119		Approved		uc003gfq.3	P35611	OTTHUMG00000122080	ENST00000398129.1:c.1200G>T	chr4.hg19:g.2906529G>T		174.0	0.0		188.0	40.0	NM_014190	A2A3N8|A2A3P0|B4DI79|D3DVR3|D3DVR4|D3DVR5|Q13734|Q14729|Q16156|Q86XM2|Q9UJB6	Silent	SNP	ENST00000398129.1	hg19	CCDS43205.1	.	.	.	.	.	.	.	.	.	.	G	9.854	1.194444	0.22037	.	.	ENSG00000087274	ENST00000514940	.	.	.	5.35	5.35	0.76521	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-17.542	19.0717	0.93140	0.0:0.0:1.0:0.0	.	.	.	.	L	106	.	.	X	+	2	2	ADD1	2876327	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.705000	0.74644	2.506000	0.84524	0.655000	0.94253	TGA	.	.		0.478	ADD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242840.1	NM_014189	
ARAP2	116984	hgsc.bcm.edu	37	4	36085011	36085011	+	Missense_Mutation	SNP	T	T	C			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr4:36085011T>C	ENST00000303965.4	-	29	4976	c.4487A>G	c.(4486-4488)aAg>aGg	p.K1496R		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	1496	PH 5. {ECO:0000255|PROSITE- ProRule:PRU00145}.				regulation of ARF GTPase activity (GO:0032312)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						CTTCATTTTCTTTTTCACTCC	0.323																																					p.K1496R		Atlas-SNP	.											.	ARAP2	210	.	0			c.A4487G						.						80.0	75.0	77.0					4																	36085011		2201	4298	6499	SO:0001583	missense	116984	exon29			ATTTTCTTTTTCA	AF411982	CCDS3441.1	4p15.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000047365	ENSG00000047365		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16924	protein-coding gene	gene with protein product		606645	"""centaurin, delta 1"""	CENTD1			Standard	NM_015230		Approved	PARX	uc003gsq.2	Q8WZ64	OTTHUMG00000097811	ENST00000303965.4:c.4487A>G	chr4.hg19:g.36085011T>C	ENSP00000302895:p.Lys1496Arg	111.0	0.0		95.0	4.0	NM_015230	Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Missense_Mutation	SNP	ENST00000303965.4	hg19	CCDS3441.1	.	.	.	.	.	.	.	.	.	.	T	18.68	3.675896	0.67928	.	.	ENSG00000047365	ENST00000303965	T	0.30182	1.54	5.62	5.62	0.85841	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.054333	0.64402	D	0.000001	T	0.31765	0.0807	L	0.51853	1.615	0.35926	D	0.832182	P	0.47034	0.889	B	0.43658	0.426	T	0.38672	-0.9650	10	0.30078	T	0.28	.	13.3428	0.60555	0.0:0.0:0.0:1.0	.	1496	Q8WZ64	ARAP2_HUMAN	R	1496	ENSP00000302895:K1496R	ENSP00000302895:K1496R	K	-	2	0	ARAP2	35761406	1.000000	0.71417	0.999000	0.59377	0.962000	0.63368	4.529000	0.60588	2.132000	0.65825	0.528000	0.53228	AAG	.	.		0.323	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215074.2	NM_015230	
UBE2K	3093	hgsc.bcm.edu	37	4	39747379	39747379	+	Missense_Mutation	SNP	A	A	T			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr4:39747379A>T	ENST00000261427.5	+	3	449	c.165A>T	c.(163-165)agA>agT	p.R55S	UBE2K_ENST00000438068.2_3'UTR|UBE2K_ENST00000295963.6_Missense_Mutation_p.R55S|UBE2K_ENST00000503368.1_Intron|UBE2K_ENST00000445950.2_Missense_Mutation_p.R55S	NM_001111112.1|NM_005339.4	NP_001104582.1|NP_005330.1	P61086	UBE2K_HUMAN	ubiquitin-conjugating enzyme E2K	55					intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|protein K48-linked ubiquitination (GO:0070936)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)			large_intestine(1)|lung(1)|ovary(2)	4						TAGGAGGAAGATACCAACTAG	0.299																																					p.R55S	NSCLC(101;689 1592 16105 29682 31745)	Atlas-SNP	.											.	UBE2K	16	.	0			c.A165T						.						65.0	66.0	66.0					4																	39747379		2202	4292	6494	SO:0001583	missense	3093	exon3			AGGAAGATACCAA	U58522	CCDS33976.1, CCDS47043.1, CCDS47044.1	4p14	2011-05-19	2011-05-19	2007-12-04	ENSG00000078140	ENSG00000078140		"""Ubiquitin-conjugating enzymes E2"""	4914	protein-coding gene	gene with protein product		602846	"""huntingtin interacting protein 2"", ""ubiquitin-conjugating enzyme E2K (UBC1 homolog, yeast)"""	HIP2		8702625, 17873885	Standard	NM_005339		Approved	HYPG, UBC1	uc003guu.4	P61086	OTTHUMG00000160543	ENST00000261427.5:c.165A>T	chr4.hg19:g.39747379A>T	ENSP00000261427:p.Arg55Ser	269.0	1.0		172.0	75.0	NM_005339	A6NJC1|A8K5Y9|B2RDF8|C9JGP1|O54806|P27924|Q16721|Q9CVV9|Q9Y2D3	Missense_Mutation	SNP	ENST00000261427.5	hg19	CCDS33976.1	.	.	.	.	.	.	.	.	.	.	A	11.47	1.647704	0.29336	.	.	ENSG00000078140	ENST00000261427;ENST00000295963;ENST00000510934;ENST00000445950	T;T;T;T	0.36699	1.24;1.24;1.24;1.24	5.57	5.57	0.84162	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.217561	0.56097	D	0.000029	T	0.21468	0.0517	N	0.11313	0.125	0.80722	D	1	B;B;B	0.22983	0.078;0.032;0.055	B;B;B	0.28385	0.089;0.025;0.022	T	0.11891	-1.0569	10	0.22109	T	0.4	-5.8763	11.6249	0.51139	0.9287:0.0:0.0713:0.0	.	55;55;55	B4DIZ2;P61086;C9JGP1	.;UBE2K_HUMAN;.	S	55	ENSP00000261427:R55S;ENSP00000295963:R55S;ENSP00000425301:R55S;ENSP00000390483:R55S	ENSP00000261427:R55S	R	+	3	2	UBE2K	39423774	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	3.554000	0.53720	2.093000	0.63338	0.533000	0.62120	AGA	.	.		0.299	UBE2K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361061.1	NM_005339	
CWH43	80157	hgsc.bcm.edu	37	4	48990546	48990546	+	Silent	SNP	T	T	C			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr4:48990546T>C	ENST00000226432.4	+	2	279	c.96T>C	c.(94-96)ttT>ttC	p.F32F	CWH43_ENST00000513409.1_Silent_p.F5F	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	32					GPI anchor biosynthetic process (GO:0006506)	integral component of membrane (GO:0016021)				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						TCTATTACTTTCCTTTGCAAA	0.353																																					p.F32F		Atlas-SNP	.											.	CWH43	101	.	0			c.T96C						.						126.0	124.0	125.0					4																	48990546		2203	4300	6503	SO:0001819	synonymous_variant	80157	exon2			TTACTTTCCTTTG		CCDS3486.1, CCDS68697.1	4p12-p11	2010-09-21			ENSG00000109182	ENSG00000109182			26133	protein-coding gene	gene with protein product						17714445, 17761529	Standard	NM_025087		Approved	FLJ21511, CWH43-C	uc003gyv.3	Q9H720	OTTHUMG00000128627	ENST00000226432.4:c.96T>C	chr4.hg19:g.48990546T>C		66.0	0.0		91.0	4.0	NM_025087	B2RPD7	Silent	SNP	ENST00000226432.4	hg19	CCDS3486.1																																																																																			.	.		0.353	CWH43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250496.2	NM_025087	
CXCL5	6374	hgsc.bcm.edu	37	4	74864222	74864222	+	Missense_Mutation	SNP	A	A	G			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr4:74864222A>G	ENST00000296027.4	-	1	274	c.77T>C	c.(76-78)cTg>cCg	p.L26P		NM_002994.3	NP_002985.1	P42830	CXCL5_HUMAN	chemokine (C-X-C motif) ligand 5	26					cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|chemotaxis (GO:0006935)|immune response (GO:0006955)|positive regulation of cell proliferation (GO:0008284)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)			endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(1)	9	Breast(15;0.00136)		all cancers(17;0.00273)|Lung(101;0.196)			CGTCAGCAGCAGCAGCAGCAC	0.701																																					p.L26P		Atlas-SNP	.											.	CXCL5	15	.	0			c.T77C						.						14.0	18.0	16.0					4																	74864222		2197	4288	6485	SO:0001583	missense	6374	exon1			AGCAGCAGCAGCA	X78686	CCDS34006.1	4q13.3	2013-02-25	2002-08-22	2002-08-23		ENSG00000163735		"""Endogenous ligands"""	10642	protein-coding gene	gene with protein product		600324	"""small inducible cytokine subfamily B (Cys-X-Cys), member 5 (epithelial-derived neutrophil-activating peptide 78)"""	SCYB5		7929219	Standard	NM_002994		Approved	ENA-78	uc003hhk.4	P42830		ENST00000296027.4:c.77T>C	chr4.hg19:g.74864222A>G	ENSP00000296027:p.Leu26Pro	94.0	0.0		144.0	30.0	NM_002994	Q96QE1	Missense_Mutation	SNP	ENST00000296027.4	hg19	CCDS34006.1	.	.	.	.	.	.	.	.	.	.	A	14.14	2.445430	0.43429	.	.	ENSG00000163735	ENST00000296027	.	.	.	3.51	3.51	0.40186	Chemokine interleukin-8-like domain (1);	0.559011	0.17541	N	0.170552	T	0.76948	0.4059	M	0.82056	2.57	0.58432	D	0.999998	D	0.76494	0.999	D	0.85130	0.997	T	0.77653	-0.2507	9	0.72032	D	0.01	.	8.381	0.32472	1.0:0.0:0.0:0.0	.	26	P42830	CXCL5_HUMAN	P	26	.	ENSP00000296027:L26P	L	-	2	0	CXCL5	75083086	0.997000	0.39634	1.000000	0.80357	0.167000	0.22549	1.548000	0.36201	1.470000	0.48102	0.254000	0.18369	CTG	.	.		0.701	CXCL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362749.1	NM_002994	
BTC	685	hgsc.bcm.edu	37	4	75673278	75673278	+	Silent	SNP	T	T	C			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr4:75673278T>C	ENST00000395743.3	-	5	870	c.510A>G	c.(508-510)gaA>gaG	p.E170E		NM_001729.2	NP_001720.1	P35070	BTC_HUMAN	betacellulin	170					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)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mitosis (GO:0045840)|positive regulation of urine volume (GO:0035810)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	10			Lung(101;0.219)			CTTCAATATCTTCATTGATAG	0.348																																					p.E170E		Atlas-SNP	.											.	BTC	23	.	0			c.A510G						.						148.0	150.0	149.0					4																	75673278		2201	4299	6500	SO:0001819	synonymous_variant	685	exon5			AATATCTTCATTG	S55606	CCDS3566.1	4q13.3	2012-09-20			ENSG00000174808	ENSG00000174808			1121	protein-coding gene	gene with protein product		600345				8439318, 11522793	Standard	NM_001729		Approved		uc003hig.2	P35070	OTTHUMG00000130107	ENST00000395743.3:c.510A>G	chr4.hg19:g.75673278T>C		93.0	0.0		94.0	4.0	NM_001729	Q96F48	Silent	SNP	ENST00000395743.3	hg19	CCDS3566.1	.	.	.	.	.	.	.	.	.	.	T	0.686	-0.796451	0.02862	.	.	ENSG00000174808	ENST00000512743	.	.	.	4.84	2.39	0.29439	.	.	.	.	.	T	0.46308	0.1386	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33548	-0.9864	4	.	.	.	-35.4688	3.5545	0.07860	0.2117:0.1029:0.0:0.6854	.	.	.	.	R	100	.	.	K	-	2	0	BTC	75892302	1.000000	0.71417	1.000000	0.80357	0.090000	0.18270	0.867000	0.27968	0.885000	0.36088	0.533000	0.62120	AAG	.	.		0.348	BTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252413.1		
RCHY1	25898	hgsc.bcm.edu	37	4	76415820	76415820	+	Missense_Mutation	SNP	G	G	A			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr4:76415820G>A	ENST00000324439.5	-	8	1026	c.628C>T	c.(628-630)Cca>Tca	p.P210S	RCHY1_ENST00000514021.1_5'Flank|RCHY1_ENST00000513257.1_Missense_Mutation_p.P201S|RCHY1_ENST00000512706.1_Missense_Mutation_p.P188S|RCHY1_ENST00000380840.2_Missense_Mutation_p.P170S|RCHY1_ENST00000451788.1_3'UTR	NM_001278536.1|NM_001278538.1|NM_001278539.1	NP_001265465.1|NP_001265467.1|NP_001265468.1	Q96PM5	ZN363_HUMAN	ring finger and CHY zinc finger domain containing 1, E3 ubiquitin protein ligase	210					positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|p53 binding (GO:0002039)|protein homodimerization activity (GO:0042803)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			large_intestine(2)|pancreas(1)	3			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			TATTCTGATGGCATAGGAGTC	0.413																																					p.P210S		Atlas-SNP	.											.	RCHY1	17	.	0			c.C628T						.						183.0	162.0	169.0					4																	76415820		2203	4300	6503	SO:0001583	missense	25898	exon8			CTGATGGCATAGG	AF255666	CCDS3567.1, CCDS34012.1, CCDS63990.1, CCDS63991.1, CCDS63992.1	4q21.1-q21.3	2014-02-17	2012-02-23	2004-03-30	ENSG00000163743	ENSG00000163743		"""RING-type (C3HC4) zinc fingers"""	17479	protein-coding gene	gene with protein product	"""androgen-receptor N-terminal-interacting protein"", ""p53-induced protein with a RING-H2 domain"", ""zinc finger, CHY-type"""	607680	"""zinc finger protein 363"", ""ring finger and CHY zinc finger domain containing 1"""	ZNF363		12654245	Standard	NM_015436		Approved	CHIMP, DKFZp586C1620, PRO1996, RNF199, ARNIP, PIRH2, ZCHY	uc003hik.3	Q96PM5	OTTHUMG00000130105	ENST00000324439.5:c.628C>T	chr4.hg19:g.76415820G>A	ENSP00000321239:p.Pro210Ser	185.0	0.0		155.0	70.0	NM_015436	B3KRG3|C7E541|C7E542|C7E543|D3YRV2|E7EMC8|E7ETW5|J3KPI0|Q2KN33|Q59GN7|Q86X26|Q96PR5	Missense_Mutation	SNP	ENST00000324439.5	hg19	CCDS3567.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.715220	0.89112	.	.	ENSG00000163743	ENST00000324439;ENST00000380840;ENST00000512706;ENST00000513257;ENST00000507014	T;T;T	0.34072	1.42;1.38;1.42	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.65133	0.2662	M	0.82716	2.605	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.998	D;D;D;P	0.87578	0.998;0.996;0.998;0.788	T	0.67604	-0.5628	10	0.62326	D	0.03	-21.5011	17.7022	0.88298	0.0:0.0:1.0:0.0	.	161;188;201;210	E7EMC8;E7ETW5;Q96PM5-2;Q96PM5	.;.;.;ZN363_HUMAN	S	210;170;188;201;161	ENSP00000321239:P210S;ENSP00000370220:P170S;ENSP00000423976:P188S	ENSP00000321239:P210S	P	-	1	0	RCHY1	76634844	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.767000	0.85331	2.774000	0.95407	0.650000	0.86243	CCA	.	.		0.413	RCHY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252411.2	NM_015436	
FRAS1	80144	hgsc.bcm.edu	37	4	79387588	79387588	+	Splice_Site	SNP	A	A	G			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr4:79387588A>G	ENST00000264895.6	+	50	7696	c.7256A>G	c.(7255-7257)gAg>gGg	p.E2419G		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	2419					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GGGGGAAAAGAGGTGAGGGGT	0.502																																					p.E2419G		Atlas-SNP	.											.	FRAS1	779	.	0			c.A7256G						.						38.0	38.0	38.0					4																	79387588		2014	4194	6208	SO:0001630	splice_region_variant	80144	exon50			GAAAAGAGGTGAG	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.7257+1A>G	chr4.hg19:g.79387588A>G		125.0	0.0		143.0	6.0	NM_025074	A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000264895.6	hg19	CCDS54771.1	.	.	.	.	.	.	.	.	.	.	A	17.59	3.427987	0.62733	.	.	ENSG00000138759	ENST00000264895	T	0.43688	0.94	4.86	4.86	0.63082	.	0.233432	0.43260	D	0.000584	T	0.37839	0.1018	M	0.68952	2.095	0.80722	D	1	P	0.44627	0.839	B	0.33196	0.159	T	0.39981	-0.9587	10	0.34782	T	0.22	.	14.89	0.70600	1.0:0.0:0.0:0.0	.	2419	E9PHH6	.	G	2419	ENSP00000264895:E2419G	ENSP00000264895:E2419G	E	+	2	0	FRAS1	79606612	1.000000	0.71417	1.000000	0.80357	0.749000	0.42624	8.816000	0.91979	2.174000	0.68829	0.477000	0.44152	GAG	.	.		0.502	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			Missense_Mutation
SMARCAD1	56916	hgsc.bcm.edu	37	4	95197544	95197544	+	Silent	SNP	A	A	G			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr4:95197544A>G	ENST00000354268.4	+	15	1936	c.1863A>G	c.(1861-1863)aaA>aaG	p.K621K	SMARCAD1_ENST00000509418.1_Silent_p.K191K|SMARCAD1_ENST00000457823.2_Silent_p.K621K			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	621	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|chromosome separation (GO:0051304)|DNA double-strand break processing (GO:0000729)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|nucleotide metabolic process (GO:0009117)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|regulation of DNA recombination (GO:0000018)	heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		GACGGCTGAAACTTAATTACG	0.388																																					p.K621K		Atlas-SNP	.											.	SMARCAD1	97	.	0			c.A1863G						.						104.0	96.0	99.0					4																	95197544		2203	4300	6503	SO:0001819	synonymous_variant	56916	exon15			GCTGAAACTTAAT	AB032948	CCDS3639.1, CCDS47101.1, CCDS58914.1	4q22-q23	2008-02-05			ENSG00000163104	ENSG00000163104			18398	protein-coding gene	gene with protein product		612761				11031099	Standard	NM_001128430		Approved	ETL1, DKFZP762K2015, KIAA1122, DKFZp762K2015	uc003htb.4	Q9H4L7	OTTHUMG00000130971	ENST00000354268.4:c.1863A>G	chr4.hg19:g.95197544A>G		87.0	0.0		73.0	5.0	NM_001128429	B7Z799|Q05D56|Q96SX1|Q9H017|Q9H860|Q9NPU9|Q9ULU7	Silent	SNP	ENST00000354268.4	hg19	CCDS3639.1																																																																																			.	.		0.388	SMARCAD1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253583.1	NM_020159	
USP53	54532	hgsc.bcm.edu	37	4	120188512	120188512	+	Missense_Mutation	SNP	T	T	C			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr4:120188512T>C	ENST00000274030.6	+	13	2189	c.1010T>C	c.(1009-1011)aTt>aCt	p.I337T	USP53_ENST00000450251.1_Missense_Mutation_p.I337T	NM_019050.2	NP_061923.2			ubiquitin specific peptidase 53											breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						TCCAAATGCATTCGATGCCAC	0.383																																					p.I337T		Atlas-SNP	.											.	USP53	69	.	0			c.T1010C						.						114.0	107.0	110.0					4																	120188512		1935	4144	6079	SO:0001583	missense	54532	exon12			AATGCATTCGATG	BC017382	CCDS43265.1	4q26	2010-05-12	2005-08-08		ENSG00000145390	ENSG00000145390		"""Ubiquitin-specific peptidases"""	29255	protein-coding gene	gene with protein product			"""ubiquitin specific protease 53"""			10718198, 14715245	Standard	NM_019050		Approved	KIAA1350	uc003ics.4	Q70EK8	OTTHUMG00000161331	ENST00000274030.6:c.1010T>C	chr4.hg19:g.120188512T>C	ENSP00000274030:p.Ile337Thr	110.0	0.0		97.0	4.0	NM_019050		Missense_Mutation	SNP	ENST00000274030.6	hg19	CCDS43265.1	.	.	.	.	.	.	.	.	.	.	T	9.648	1.140787	0.21205	.	.	ENSG00000145390	ENST00000274030;ENST00000450251	T;T	0.05513	3.43;3.43	6.02	3.32	0.38043	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.241859	0.47852	N	0.000211	T	0.11110	0.0271	L	0.56769	1.78	0.30548	N	0.765736	P	0.39737	0.685	P	0.45406	0.479	T	0.01652	-1.1303	10	0.46703	T	0.11	-4.6224	11.1821	0.48633	0.0:0.143:0.0:0.857	.	337	Q70EK8	UBP53_HUMAN	T	337	ENSP00000274030:I337T;ENSP00000409906:I337T	ENSP00000274030:I337T	I	+	2	0	USP53	120407960	0.996000	0.38824	0.345000	0.25642	0.882000	0.50991	2.977000	0.49297	1.113000	0.41760	0.533000	0.62120	ATT	.	.		0.383	USP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364564.2	XM_052597	
ADAD1	132612	hgsc.bcm.edu	37	4	123332460	123332460	+	Missense_Mutation	SNP	C	C	T			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr4:123332460C>T	ENST00000296513.2	+	9	1117	c.932C>T	c.(931-933)tCt>tTt	p.S311F	ADAD1_ENST00000388724.2_Missense_Mutation_p.S300F|ADAD1_ENST00000388725.2_Missense_Mutation_p.S293F	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)	311	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				multicellular organismal development (GO:0007275)|RNA processing (GO:0006396)|spermatid development (GO:0007286)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						GAACCAACTTCTAATCTACTC	0.323																																					p.S311F		Atlas-SNP	.											ADAD1,NS,carcinoma,0,2	ADAD1	94	.	0			c.C932T						.						86.0	85.0	85.0					4																	123332460		2203	4300	6503	SO:0001583	missense	132612	exon9			CAACTTCTAATCT	AK057303	CCDS34058.1, CCDS54800.1, CCDS54801.1	4q27	2007-05-31			ENSG00000164113	ENSG00000164113			30713	protein-coding gene	gene with protein product		614130				7543294, 9541871	Standard	NM_139243		Approved	Tenr	uc003iep.3	Q96M93	OTTHUMG00000150128	ENST00000296513.2:c.932C>T	chr4.hg19:g.123332460C>T	ENSP00000296513:p.Ser311Phe	344.0	0.0		287.0	35.0	NM_139243	A6NKN4|B7WPB0|D3DNX2|Q8IWG6|Q8NA06	Missense_Mutation	SNP	ENST00000296513.2	hg19	CCDS34058.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.304288	0.81136	.	.	ENSG00000164113	ENST00000296513;ENST00000388724;ENST00000388725	D;D;D	0.93859	-3.3;-3.3;-3.3	5.74	5.74	0.90152	Adenosine deaminase/editase (3);	0.187202	0.47852	D	0.000214	D	0.96194	0.8759	M	0.61703	1.905	0.49051	D	0.999744	D;D	0.76494	0.985;0.999	P;D	0.71870	0.905;0.975	D	0.96120	0.9084	10	0.72032	D	0.01	-22.2588	19.9151	0.97057	0.0:1.0:0.0:0.0	.	300;311	Q96M93-2;Q96M93	.;ADAD1_HUMAN	F	311;300;293	ENSP00000296513:S311F;ENSP00000373376:S300F;ENSP00000373377:S293F	ENSP00000296513:S311F	S	+	2	0	ADAD1	123551910	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.698000	0.74608	2.716000	0.92895	0.591000	0.81541	TCT	.	.		0.323	ADAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316452.1	NM_139243	
PRSS48	345062	hgsc.bcm.edu	37	4	152201018	152201018	+	Missense_Mutation	SNP	G	G	T	rs148861921|rs77216366	byFrequency	TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr4:152201018G>T	ENST00000455694.2	+	2	125	c.123G>T	c.(121-123)tgG>tgT	p.W41C	PRSS48_ENST00000441586.2_Intron|SH3D19_ENST00000604030.1_Intron	NM_183375.2	NP_899231.2	Q7RTY5	PRS48_HUMAN	protease, serine, 48	41	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			kidney(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8						GCTGGCCTTGGCAGGTCAGCC	0.532																																					p.W41C		Atlas-SNP	.											.	PRSS48	91	.	0			c.G123T						.						120.0	109.0	113.0					4																	152201018		2010	4172	6182	SO:0001583	missense	345062	exon2			GCCTTGGCAGGTC	BN000134	CCDS47145.1	4q31.3	2010-05-07			ENSG00000189099	ENSG00000189099		"""Serine peptidases / Serine peptidases"""	24635	protein-coding gene	gene with protein product						12838346	Standard	NM_183375		Approved	ESSPL	uc011cif.2	Q7RTY5	OTTHUMG00000161673	ENST00000455694.2:c.123G>T	chr4.hg19:g.152201018G>T	ENSP00000401328:p.Trp41Cys	128.0	0.0		135.0	7.0	NM_183375	Q08E82|Q0VAD4	Missense_Mutation	SNP	ENST00000455694.2	hg19	CCDS47145.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	15.45|15.45	2.836560|2.836560	0.50951|0.50951	.|.	.|.	ENSG00000189099|ENSG00000189099	ENST00000530477|ENST00000455694	.|T	.|0.50001	.|0.76	5.01|5.01	5.01|5.01	0.66863|0.66863	.|Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.|0.000000	.|0.30920	.|N	.|0.008611	T|T	0.81513|0.81513	0.4838|0.4838	H|H	0.98965|0.98965	4.385|4.385	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	D|D	0.88620|0.88620	0.3162|0.3162	5|10	.|0.87932	.|D	.|0	.|.	16.2008|16.2008	0.82071|0.82071	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|41	.|Q7RTY5	.|PRS48_HUMAN	V|C	24|41	.|ENSP00000401328:W41C	.|ENSP00000401328:W41C	G|W	+|+	2|3	0|0	PRSS48|PRSS48	152420468|152420468	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.426000|0.426000	0.31534|0.31534	8.605000|8.605000	0.90883|0.90883	2.774000|2.774000	0.95407|0.95407	0.585000|0.585000	0.79938|0.79938	GGC|TGG	.	.		0.532	PRSS48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365685.3	NM_183375	
PRSS48	345062	hgsc.bcm.edu	37	4	152212524	152212524	+	Silent	SNP	A	A	G			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr4:152212524A>G	ENST00000455694.2	+	5	908	c.906A>G	c.(904-906)agA>agG	p.R302R	PRSS48_ENST00000441586.2_Silent_p.R159R|SH3D19_ENST00000604030.1_Intron	NM_183375.2	NP_899231.2	Q7RTY5	PRS48_HUMAN	protease, serine, 48	302						extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			kidney(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8						CTATACACAGAGTAGGCACTG	0.507																																					p.R302R		Atlas-SNP	.											.	PRSS48	91	.	0			c.A906G						.						128.0	115.0	119.0					4																	152212524		1964	4164	6128	SO:0001819	synonymous_variant	345062	exon5			ACACAGAGTAGGC	BN000134	CCDS47145.1	4q31.3	2010-05-07			ENSG00000189099	ENSG00000189099		"""Serine peptidases / Serine peptidases"""	24635	protein-coding gene	gene with protein product						12838346	Standard	NM_183375		Approved	ESSPL	uc011cif.2	Q7RTY5	OTTHUMG00000161673	ENST00000455694.2:c.906A>G	chr4.hg19:g.152212524A>G		175.0	0.0		149.0	6.0	NM_183375	Q08E82|Q0VAD4	Silent	SNP	ENST00000455694.2	hg19	CCDS47145.1	.	.	.	.	.	.	.	.	.	.	A	3.321	-0.138803	0.06669	.	.	ENSG00000189099	ENST00000530477	.	.	.	3.56	2.36	0.29203	.	.	.	.	.	T	0.27278	0.0669	.	.	.	0.21220	N	0.99976	.	.	.	.	.	.	T	0.19484	-1.0304	4	.	.	.	.	5.6283	0.17495	0.8743:0.0:0.1257:0.0	.	.	.	.	G	281	.	.	E	+	2	0	PRSS48	152431974	0.125000	0.22332	0.022000	0.16811	0.653000	0.38743	4.048000	0.57390	0.732000	0.32470	0.260000	0.18958	GAG	.	.		0.507	PRSS48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365685.3	NM_183375	
GATB	5188	hgsc.bcm.edu	37	4	152593987	152593987	+	Missense_Mutation	SNP	T	T	A			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr4:152593987T>A	ENST00000515812.1	-	11	1365	c.1349A>T	c.(1348-1350)cAg>cTg	p.Q450L	PET112_ENST00000263985.6_Missense_Mutation_p.Q491L|RP11-164P12.3_ENST00000514269.1_RNA|PET112_ENST00000507592.1_5'UTR|RP11-164P12.4_ENST00000508664.1_RNA																breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	23						CAGTTCAAGCTGCTTTTCTGA	0.547																																					p.Q491L		Atlas-SNP	.											.	PET112	43	.	0			c.A1472T						.						104.0	93.0	97.0					4																	152593987		2203	4300	6503	SO:0001583	missense	5188	exon12			TCAAGCTGCTTTT																												ENST00000515812.1:c.1349A>T	chr4.hg19:g.152593987T>A	ENSP00000426859:p.Gln450Leu	168.0	0.0		215.0	40.0	NM_004564		Missense_Mutation	SNP	ENST00000515812.1	hg19		.	.	.	.	.	.	.	.	.	.	T	10.85	1.465695	0.26335	.	.	ENSG00000059691	ENST00000263985;ENST00000515812	T;T	0.43688	0.94;0.94	5.84	3.43	0.39272	Asn/Gln amidotransferase (2);	0.769939	0.12567	N	0.457637	T	0.34571	0.0902	L	0.44542	1.39	0.80722	D	1	B	0.27316	0.175	B	0.22152	0.038	T	0.10543	-1.0625	10	0.87932	D	0	-1.5785	8.6127	0.33813	0.0:0.1512:0.0:0.8488	.	491	O75879	GATB_HUMAN	L	491;450	ENSP00000263985:Q491L;ENSP00000426859:Q450L	ENSP00000263985:Q491L	Q	-	2	0	PET112	152813437	0.578000	0.26717	0.773000	0.31616	0.633000	0.38033	1.128000	0.31369	0.478000	0.27488	0.533000	0.62120	CAG	.	.		0.547	PET112-002	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000365672.1		
FGB	2244	hgsc.bcm.edu	37	4	155490755	155490755	+	Missense_Mutation	SNP	G	G	A			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr4:155490755G>A	ENST00000302068.4	+	7	1111	c.1048G>A	c.(1048-1050)Gac>Aac	p.D350N	FGB_ENST00000502545.1_Intron|FGB_ENST00000509493.1_Missense_Mutation_p.D131N	NM_005141.4	NP_005132.2	P02675	FIBB_HUMAN	fibrinogen beta chain	350	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|cellular response to interleukin-1 (GO:0071347)|cellular response to leptin stimulus (GO:0044320)|extracellular matrix organization (GO:0030198)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	chaperone binding (GO:0051087)|structural molecule activity (GO:0005198)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	CTGGAAAGGAGACAAAGTAAA	0.413																																					p.D350N	NSCLC(106;1133 1613 21870 46110 52656)	Atlas-SNP	.											.	FGB	71	.	0			c.G1048A						.						104.0	100.0	101.0					4																	155490755		2203	4300	6503	SO:0001583	missense	2244	exon7			AAAGGAGACAAAG		CCDS3786.1	4q28	2014-09-17			ENSG00000171564	ENSG00000171564		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3662	protein-coding gene	gene with protein product		134830	"""fibrinogen, B beta polypeptide"""				Standard	NM_005141		Approved		uc003ioa.4	P02675	OTTHUMG00000150331	ENST00000302068.4:c.1048G>A	chr4.hg19:g.155490755G>A	ENSP00000306099:p.Asp350Asn	91.0	0.0		94.0	5.0	NM_005141	A0JLR9|B2R7G3|Q32Q65|Q3KPF2	Missense_Mutation	SNP	ENST00000302068.4	hg19	CCDS3786.1	.	.	.	.	.	.	.	.	.	.	G	4.258	0.046899	0.08243	.	.	ENSG00000171564	ENST00000302068;ENST00000537843;ENST00000509493	T;T	0.80738	-1.41;-1.41	5.53	5.53	0.82687	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.259259	0.43747	D	0.000540	T	0.70868	0.3273	N	0.05441	-0.05	0.38293	D	0.942754	P;B	0.37636	0.603;0.003	B;B	0.43680	0.427;0.011	T	0.69247	-0.5195	10	0.15499	T	0.54	.	19.8195	0.96586	0.0:0.0:1.0:0.0	.	333;350	B4E1D3;P02675	.;FIBB_HUMAN	N	350;333;131	ENSP00000306099:D350N;ENSP00000426757:D131N	ENSP00000306099:D350N	D	+	1	0	FGB	155710205	0.004000	0.15560	0.835000	0.33067	0.629000	0.37895	1.548000	0.36201	2.756000	0.94617	0.655000	0.94253	GAC	.	.		0.413	FGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317595.1	NM_005141	
TKTL2	84076	hgsc.bcm.edu	37	4	164393283	164393283	+	Missense_Mutation	SNP	A	A	T			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr4:164393283A>T	ENST00000280605.3	-	1	1764	c.1604T>A	c.(1603-1605)gTc>gAc	p.V535D		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	535						cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|transketolase activity (GO:0004802)			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TGGGTCGATGACACGGACAGA	0.488																																					p.V535D		Atlas-SNP	.											.	TKTL2	130	.	0			c.T1604A						.						155.0	151.0	152.0					4																	164393283		2203	4300	6503	SO:0001583	missense	84076	exon1			TCGATGACACGGA	BC028707	CCDS3805.1	4q32.2	2009-10-06			ENSG00000151005	ENSG00000151005			25313	protein-coding gene	gene with protein product	"""similar to transketolase"""					11230166	Standard	NM_032136		Approved	FLJ32975, DKFZP434L1717	uc003iqp.4	Q9H0I9	OTTHUMG00000161527	ENST00000280605.3:c.1604T>A	chr4.hg19:g.164393283A>T	ENSP00000280605:p.Val535Asp	108.0	0.0		144.0	38.0	NM_032136	A4FVB4|Q8NCT0|Q96M82	Missense_Mutation	SNP	ENST00000280605.3	hg19	CCDS3805.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.053049	0.75960	.	.	ENSG00000151005	ENST00000280605	D	0.94687	-3.49	4.39	4.39	0.52855	Transketolase, C-terminal (1);Transketolase, C-terminal/Pyruvate-ferredoxin oxidoreductase, domain II (1);Transketolase-like, C-terminal (1);	0.073322	0.53938	D	0.000060	D	0.98349	0.9452	H	0.99325	4.515	0.80722	D	1	D	0.76494	0.999	D	0.74674	0.984	D	0.98604	1.0660	10	0.87932	D	0	-20.8496	12.2228	0.54443	1.0:0.0:0.0:0.0	.	535	Q9H0I9	TKTL2_HUMAN	D	535	ENSP00000280605:V535D	ENSP00000280605:V535D	V	-	2	0	TKTL2	164612733	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	8.557000	0.90700	2.216000	0.71823	0.528000	0.53228	GTC	.	.		0.488	TKTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365207.1	NM_032136	
TRIM60	166655	hgsc.bcm.edu	37	4	165962541	165962541	+	Silent	SNP	T	T	C			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr4:165962541T>C	ENST00000512596.1	+	3	1533	c.1317T>C	c.(1315-1317)acT>acC	p.T439T	TRIM60_ENST00000341062.5_Silent_p.T439T|TRIM60_ENST00000508504.1_Silent_p.T439T	NM_152620.2	NP_689833.1	Q495X7	TRI60_HUMAN	tripartite motif containing 60	439	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.T439T(1)		NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	29	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0844)		TTCTCTATACTTTTAACGATT	0.343																																					p.T439T		Atlas-SNP	.											TRIM60,caecum,carcinoma,0,1	TRIM60	73	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1317C						.						65.0	71.0	69.0					4																	165962541		2203	4300	6503	SO:0001819	synonymous_variant	166655	exon4			CTATACTTTTAAC	AK093201	CCDS3808.1	4q32.3	2013-01-09	2011-01-25	2004-11-17	ENSG00000176979	ENSG00000176979		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	21162	protein-coding gene	gene with protein product			"""ring finger protein 129"", ""tripartite motif-containing 60"""	RNF129, RNF33			Standard	NM_152620		Approved	FLJ35882	uc003iqy.1	Q495X7	OTTHUMG00000161262	ENST00000512596.1:c.1317T>C	chr4.hg19:g.165962541T>C		60.0	0.0		49.0	2.0	NM_001258025	Q8NA35	Silent	SNP	ENST00000512596.1	hg19	CCDS3808.1																																																																																			.	.		0.343	TRIM60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364325.1	NM_152620	
NEK1	4750	hgsc.bcm.edu	37	4	170502055	170502055	+	Splice_Site	SNP	T	T	C			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr4:170502055T>C	ENST00000439128.2	-	10	1448		c.e10-2		NEK1_ENST00000511633.1_Splice_Site|NEK1_ENST00000510533.1_Splice_Site|NEK1_ENST00000512193.1_Splice_Site|NEK1_ENST00000507142.1_Splice_Site	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1						cellular response to DNA damage stimulus (GO:0006974)|cilium assembly (GO:0042384)|mitotic nuclear division (GO:0007067)|response to ionizing radiation (GO:0010212)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		TGCAATAAGCTGAGATTGAAA	0.294																																					.		Atlas-SNP	.											.	NEK1	203	.	0			c.808-2A>G						.						48.0	42.0	44.0					4																	170502055		1697	3824	5521	SO:0001630	splice_region_variant	4750	exon12			ATAAGCTGAGATT	AB067488	CCDS47162.1, CCDS56348.1, CCDS56349.1, CCDS56350.1, CCDS56351.1	4q32.3	2012-11-15	2012-11-15		ENSG00000137601	ENSG00000137601			7744	protein-coding gene	gene with protein product		604588	"""NIMA (never in mitosis gene a)-related kinase 1"""			1382974, 8274451	Standard	NM_012224		Approved	NY-REN-55, KIAA1901	uc003isd.2	Q96PY6	OTTHUMG00000160963	ENST00000439128.2:c.808-2A>G	chr4.hg19:g.170502055T>C		88.0	0.0		90.0	4.0	NM_001199397	G5E9Z3|Q05DG5|Q14CB7|Q5H9T1|Q6PIB8|Q96SS2|Q9H6P7|Q9Y594	Splice_Site	SNP	ENST00000439128.2	hg19	CCDS47162.1	.	.	.	.	.	.	.	.	.	.	T	15.68	2.906121	0.52333	.	.	ENSG00000137601	ENST00000439128;ENST00000511633;ENST00000510533;ENST00000507142;ENST00000512193;ENST00000505119	.	.	.	4.9	4.9	0.64082	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.3834	0.60783	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	NEK1	170738630	1.000000	0.71417	0.991000	0.47740	0.714000	0.41099	5.038000	0.64177	1.968000	0.57251	0.528000	0.53228	.	.	.		0.294	NEK1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000363157.3		Intron
HPGD	3248	hgsc.bcm.edu	37	4	175443546	175443546	+	Silent	SNP	T	T	C			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr4:175443546T>C	ENST00000296522.6	-	1	503	c.57A>G	c.(55-57)agA>agG	p.R19R	HPGD_ENST00000296521.7_Silent_p.R19R|HPGD_ENST00000542498.1_Silent_p.R19R|HPGD_ENST00000541923.1_5'UTR|HPGD_ENST00000504433.1_Silent_p.R19R|RP11-440I14.2_ENST00000515178.1_lincRNA|HPGD_ENST00000422112.2_Silent_p.R19R|HPGD_ENST00000510901.1_Intron	NM_000860.5|NM_001145816.2|NM_001256301.1|NM_001256307.1	NP_000851.2|NP_001139288.1|NP_001243230.1|NP_001243236.1	P15428	PGDH_HUMAN	hydroxyprostaglandin dehydrogenase 15-(NAD)	19					arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|ductus arteriosus closure (GO:0097070)|female pregnancy (GO:0007565)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|negative regulation of cell cycle (GO:0045786)|ovulation (GO:0030728)|parturition (GO:0007567)|prostaglandin metabolic process (GO:0006693)|small molecule metabolic process (GO:0044281)|thrombin receptor signaling pathway (GO:0070493)|transforming growth factor beta receptor signaling pathway (GO:0007179)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	15-hydroxyprostaglandin dehydrogenase (NAD+) activity (GO:0016404)|catalytic activity (GO:0003824)|NAD binding (GO:0051287)|NAD+ binding (GO:0070403)|prostaglandin E receptor activity (GO:0004957)|protein homodimerization activity (GO:0042803)			kidney(1)|lung(3)|prostate(3)	7		Prostate(90;0.00763)|Melanoma(52;0.0179)|Renal(120;0.0376)|Breast(14;0.0991)|all_hematologic(60;0.124)|all_neural(102;0.196)		all cancers(43;2.6e-18)|Epithelial(43;4.19e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.23e-09)|GBM - Glioblastoma multiforme(59;0.00176)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.0253)		CTGCAAAGGCTCTGCCTATGC	0.692																																					p.R19R		Atlas-SNP	.											.	HPGD	19	.	0			c.A57G						.						9.0	10.0	10.0					4																	175443546		2188	4271	6459	SO:0001819	synonymous_variant	3248	exon1			AAAGGCTCTGCCT		CCDS3821.1, CCDS54821.1, CCDS58933.1, CCDS58934.1, CCDS58935.1	4q34-q35	2011-09-14			ENSG00000164120	ENSG00000164120	1.1.1.141	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	5154	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 36C, member 1"""	601688				19027726	Standard	NM_000860		Approved	SDR36C1	uc003itu.3	P15428	OTTHUMG00000160772	ENST00000296522.6:c.57A>G	chr4.hg19:g.175443546T>C		75.0	0.0		120.0	5.0	NM_000860	B4DTA4|B4DU74|B4DV57|D3DP43|E7EV11|O00749|Q06F08|Q12998	Silent	SNP	ENST00000296522.6	hg19	CCDS3821.1																																																																																			.	.		0.692	HPGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362228.3		
PLEKHG4B	153478	hgsc.bcm.edu	37	5	155484	155484	+	Missense_Mutation	SNP	T	T	A			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr5:155484T>A	ENST00000283426.6	+	7	1116	c.1066T>A	c.(1066-1068)Tgt>Agt	p.C356S		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	356							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		CGCTGCAAACTGTGAAGAAGC	0.468																																					p.C356S		Atlas-SNP	.											.	PLEKHG4B	167	.	0			c.T1066A						.						93.0	89.0	90.0					5																	155484		2203	4300	6503	SO:0001583	missense	153478	exon7			GCAAACTGTGAAG	BC008352	CCDS34124.1	5p15.33	2013-01-11			ENSG00000153404	ENSG00000153404		"""Pleckstrin homology (PH) domain containing"""	29399	protein-coding gene	gene with protein product						11572484	Standard	NM_052909		Approved	KIAA1909	uc003jak.2	Q96PX9	OTTHUMG00000161570	ENST00000283426.6:c.1066T>A	chr5.hg19:g.155484T>A	ENSP00000283426:p.Cys356Ser	170.0	0.0		168.0	68.0	NM_052909		Missense_Mutation	SNP	ENST00000283426.6	hg19	CCDS34124.1	.	.	.	.	.	.	.	.	.	.	.	11.06	1.528261	0.27299	.	.	ENSG00000153404	ENST00000283426;ENST00000502646	T;T	0.35421	1.31;2.87	3.65	3.65	0.41850	.	.	.	.	.	T	0.55705	0.1937	M	0.72894	2.215	0.26823	N	0.968753	D	0.89917	1.0	D	0.85130	0.997	T	0.42682	-0.9437	9	0.54805	T	0.06	.	8.7019	0.34332	0.0:0.0:0.0:1.0	.	356	Q96PX9	PKH4B_HUMAN	S	356;270	ENSP00000283426:C356S;ENSP00000422493:C270S	ENSP00000283426:C356S	C	+	1	0	PLEKHG4B	208484	1.000000	0.71417	0.019000	0.16419	0.012000	0.07955	3.648000	0.54410	1.291000	0.44653	0.383000	0.25322	TGT	.	.		0.468	PLEKHG4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365359.1	NM_052909	
PLEKHG4B	153478	hgsc.bcm.edu	37	5	174118	174118	+	Missense_Mutation	SNP	A	A	G			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr5:174118A>G	ENST00000283426.6	+	16	3289	c.3239A>G	c.(3238-3240)gAc>gGc	p.D1080G		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	1080	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		AAATCTCAGGACACCTACATT	0.567																																					p.D1080G		Atlas-SNP	.											.	PLEKHG4B	167	.	0			c.A3239G						.						83.0	68.0	74.0					5																	174118		2202	4300	6502	SO:0001583	missense	153478	exon16			CTCAGGACACCTA	BC008352	CCDS34124.1	5p15.33	2013-01-11			ENSG00000153404	ENSG00000153404		"""Pleckstrin homology (PH) domain containing"""	29399	protein-coding gene	gene with protein product						11572484	Standard	NM_052909		Approved	KIAA1909	uc003jak.2	Q96PX9	OTTHUMG00000161570	ENST00000283426.6:c.3239A>G	chr5.hg19:g.174118A>G	ENSP00000283426:p.Asp1080Gly	107.0	0.0		95.0	4.0	NM_052909		Missense_Mutation	SNP	ENST00000283426.6	hg19	CCDS34124.1	.	.	.	.	.	.	.	.	.	.	A	14.54	2.564941	0.45694	.	.	ENSG00000153404	ENST00000283426	T	0.11277	2.79	3.38	3.38	0.38709	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	.	.	.	.	T	0.30634	0.0771	M	0.84326	2.69	0.40391	D	0.979545	D	0.63880	0.993	D	0.64506	0.926	T	0.10154	-1.0642	9	0.72032	D	0.01	.	9.7664	0.40563	1.0:0.0:0.0:0.0	.	1080	Q96PX9	PKH4B_HUMAN	G	1080	ENSP00000283426:D1080G	ENSP00000283426:D1080G	D	+	2	0	PLEKHG4B	227118	1.000000	0.71417	0.994000	0.49952	0.903000	0.53119	7.351000	0.79395	1.171000	0.42768	0.383000	0.25322	GAC	.	.		0.567	PLEKHG4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365359.1	NM_052909	
CDH18	1016	hgsc.bcm.edu	37	5	19503117	19503117	+	Silent	SNP	A	A	G			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr5:19503117A>G	ENST00000507958.1	-	13	2604	c.1614T>C	c.(1612-1614)acT>acC	p.T538T	CDH18_ENST00000511273.1_Silent_p.T538T|CDH18_ENST00000382275.1_Silent_p.T538T|CDH18_ENST00000274170.4_Silent_p.T538T|CDH18_ENST00000506372.1_Silent_p.T538T|CDH18_ENST00000502796.1_Silent_p.T538T			Q13634	CAD18_HUMAN	cadherin 18, type 2	538	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TGTCCTTCAGAGTGAAGTTTG	0.348																																					p.T538T		Atlas-SNP	.											.	CDH18	561	.	0			c.T1614C						.						113.0	105.0	108.0					5																	19503117		2203	4300	6503	SO:0001819	synonymous_variant	1016	exon11			CTTCAGAGTGAAG	U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"""Cadherins / Major cadherins"""	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.1614T>C	chr5.hg19:g.19503117A>G		63.0	0.0		73.0	4.0	NM_001167667	A8K0I2|B4DHG6|Q8N5Z2	Silent	SNP	ENST00000507958.1	hg19	CCDS3889.1																																																																																			.	.		0.348	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934	
ADAMTS12	81792	hgsc.bcm.edu	37	5	33684042	33684042	+	Silent	SNP	C	C	A			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr5:33684042C>A	ENST00000504830.1	-	4	1088	c.753G>T	c.(751-753)ctG>ctT	p.L251L	ADAMTS12_ENST00000352040.3_Silent_p.L251L|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	251	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CGGCCACCACCAGTGTCTCCA	0.532										HNSCC(64;0.19)																											p.L251L		Atlas-SNP	.											.	ADAMTS12	464	.	0			c.G753T						.						136.0	125.0	129.0					5																	33684042		2203	4300	6503	SO:0001819	synonymous_variant	81792	exon4			CACCACCAGTGTC	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.753G>T	chr5.hg19:g.33684042C>A		84.0	0.0		127.0	70.0	NM_030955	A2RRN9|A5D6V6|Q6UWL3	Silent	SNP	ENST00000504830.1	hg19	CCDS34140.1																																																																																			.	.		0.532	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955	
GIN1	54826	hgsc.bcm.edu	37	5	102444410	102444410	+	Start_Codon_SNP	SNP	A	A	G			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr5:102444410A>G	ENST00000399004.2	-	2	96	c.2T>C	c.(1-3)aTg>aCg	p.M1T	GIN1_ENST00000508629.1_Start_Codon_SNP_p.M1T	NM_017676.2	NP_060146.2	Q9NXP7	GIN1_HUMAN	gypsy retrotransposon integrase 1	1					DNA integration (GO:0015074)		nucleic acid binding (GO:0003676)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(142;3.23e-07)|all_epithelial(76;3.64e-10)|Prostate(80;0.00914)|Ovarian(225;0.0139)|Lung NSC(167;0.0212)|Colorectal(57;0.0249)|all_lung(232;0.0283)		Epithelial(69;3.57e-14)|COAD - Colon adenocarcinoma(37;0.00794)		ACTACGGACCATTGTGAACCT	0.318																																					p.M1T		Atlas-SNP	.											.	GIN1	53	.	0			c.T2C						.						118.0	107.0	110.0					5																	102444410		1828	4090	5918	SO:0001582	initiator_codon_variant	54826	exon2			CGGACCATTGTGA	BC015325	CCDS43349.1	5q21.1	2008-02-11	2007-06-13	2007-06-13		ENSG00000145723			25959	protein-coding gene	gene with protein product	"""gypsy integrase 1"", ""Ty3/Gypsy integrase 1"""		"""zinc finger, H2C2 domain containing"""	ZH2C2		11470852	Standard	NM_017676		Approved	FLJ20125, GIN-1, TGIN1	uc003koa.1	Q9NXP7		ENST00000399004.2:c.2T>C	chr5.hg19:g.102444410A>G	ENSP00000381970:p.Met1Thr	58.0	0.0		61.0	4.0	NM_017676	B2RXF7|B4DIV4|Q6AI03|Q96BR2	Missense_Mutation	SNP	ENST00000399004.2	hg19	CCDS43349.1	.	.	.	.	.	.	.	.	.	.	A	11.83	1.755684	0.31046	.	.	ENSG00000145723	ENST00000399004;ENST00000508629	T;T	0.23950	1.88;1.95	5.92	5.92	0.95590	.	0.000000	0.64402	D	0.000001	T	0.52581	0.1743	.	.	.	0.80722	D	1	D;D	0.71674	0.981;0.998	D;D	0.72338	0.962;0.977	T	0.57033	-0.7880	9	0.87932	D	0	-65.0824	14.9315	0.70919	1.0:0.0:0.0:0.0	.	1;1	Q9NXP7-3;Q9NXP7	.;GIN1_HUMAN	T	1	ENSP00000381970:M1T;ENSP00000427162:M1T	ENSP00000381970:M1T	M	-	2	0	GIN1	102472309	1.000000	0.71417	0.995000	0.50966	0.970000	0.65996	5.701000	0.68325	2.260000	0.74910	0.528000	0.53228	ATG	.	.		0.318	GIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370478.3	NM_017676	Missense_Mutation
SLC4A9	83697	hgsc.bcm.edu	37	5	139739997	139739997	+	Missense_Mutation	SNP	A	A	G			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr5:139739997A>G	ENST00000230993.6	+	1	211	c.176A>G	c.(175-177)cAg>cGg	p.Q59R	SLC4A9_ENST00000507527.1_Missense_Mutation_p.Q59R|CTC-329D1.3_ENST00000520443.1_RNA|SLC4A9_ENST00000506757.2_Missense_Mutation_p.Q59R|SLC4A9_ENST00000506545.1_Missense_Mutation_p.Q59R|SLC4A9_ENST00000432095.2_Missense_Mutation_p.Q59R	NM_001258428.1	NP_001245357.1	Q96Q91	B3A4_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 9	59					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)			endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCTTCATTCAGCTGAATGAG	0.612																																					p.Q59R		Atlas-SNP	.											.	SLC4A9	125	.	0			c.A176G						.						20.0	24.0	23.0					5																	139739997		1964	4143	6107	SO:0001583	missense	83697	exon1			TCATTCAGCTGAA	AF313465	CCDS47278.1, CCDS58973.1, CCDS58974.1, CCDS58975.1	5q31.3	2013-05-22			ENSG00000113073	ENSG00000113073		"""Solute carriers"""	11035	protein-coding gene	gene with protein product		610207				11305939	Standard	NM_031467		Approved	AE4	uc003lfk.2	Q96Q91	OTTHUMG00000163352	ENST00000230993.6:c.176A>G	chr5.hg19:g.139739997A>G	ENSP00000230993:p.Gln59Arg	70.0	0.0		76.0	5.0	NM_001258428	B7ZL63|D3DQD4|D3DQD5|D3DQD6|E9PDK1|Q96RM5|Q9BXF2|Q9BXN3	Missense_Mutation	SNP	ENST00000230993.6	hg19	CCDS58973.1	.	.	.	.	.	.	.	.	.	.	A	24.7	4.561322	0.86335	.	.	ENSG00000113073	ENST00000230993;ENST00000506757;ENST00000432095;ENST00000506545;ENST00000507527	T;T;T;T;T	0.79845	-1.31;-1.31;-1.31;-1.31;-1.31	5.18	5.18	0.71444	Bicarbonate transporter, cytoplasmic (1);Phosphotransferase/anion transporter (1);	0.178836	0.38663	N	0.001612	D	0.83815	0.5336	L	0.32530	0.975	0.43222	D	0.995104	D;D;D;D	0.71674	0.993;0.997;0.998;0.998	D;D;D;D	0.80764	0.968;0.983;0.994;0.994	D	0.85599	0.1251	10	0.87932	D	0	.	12.9136	0.58192	1.0:0.0:0.0:0.0	.	59;59;59;59	E9PDK1;Q96Q91;Q96Q91-2;Q96Q91-3	.;B3A4_HUMAN;.;.	R	59	ENSP00000230993:Q59R;ENSP00000424424:Q59R;ENSP00000410056:Q59R;ENSP00000422855:Q59R;ENSP00000427661:Q59R	ENSP00000230993:Q59R	Q	+	2	0	SLC4A9	139720181	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.747000	0.74872	2.171000	0.68590	0.533000	0.62120	CAG	.	.		0.612	SLC4A9-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000372823.1	NM_031467	
PCDHB10	56126	hgsc.bcm.edu	37	5	140572961	140572961	+	Missense_Mutation	SNP	A	A	G			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr5:140572961A>G	ENST00000239446.4	+	1	1020	c.836A>G	c.(835-837)tAt>tGt	p.Y279C		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	279	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAAGTATCCTATTCATTTTTT	0.403																																					p.Y279C		Atlas-SNP	.											.	PCDHB10	177	.	0			c.A836G						.						79.0	84.0	82.0					5																	140572961		2203	4300	6503	SO:0001583	missense	56126	exon1			TATCCTATTCATT	AF152489	CCDS4252.1	5q31.3	2010-06-15			ENSG00000120324	ENSG00000120324		"""Cadherins / Protocadherins : Clustered"""	8681	other	protocadherin		606336				10380929	Standard	NM_018930		Approved		uc003lix.3	Q9UN67	OTTHUMG00000129626	ENST00000239446.4:c.836A>G	chr5.hg19:g.140572961A>G	ENSP00000239446:p.Tyr279Cys	82.0	0.0		80.0	6.0	NM_018930	Q96T99	Missense_Mutation	SNP	ENST00000239446.4	hg19	CCDS4252.1	.	.	.	.	.	.	.	.	.	.	A	12.72	2.021846	0.35701	.	.	ENSG00000120324	ENST00000239446	T	0.63255	-0.03	3.41	3.41	0.39046	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.84906	0.5576	H	0.97732	4.065	0.48236	D	0.999617	D	0.89917	1.0	D	0.97110	1.0	D	0.89190	0.3550	9	0.87932	D	0	.	12.0382	0.53438	1.0:0.0:0.0:0.0	.	279	Q9UN67	PCDBA_HUMAN	C	279	ENSP00000239446:Y279C	ENSP00000239446:Y279C	Y	+	2	0	PCDHB10	140553145	1.000000	0.71417	0.991000	0.47740	0.174000	0.22865	6.827000	0.75303	1.572000	0.49736	0.454000	0.30748	TAT	.	.		0.403	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1	NM_018930	
PCDHGC3	5098	hgsc.bcm.edu	37	5	140857641	140857641	+	Missense_Mutation	SNP	A	A	G			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr5:140857641A>G	ENST00000308177.3	+	1	2062	c.1958A>G	c.(1957-1959)gAg>gGg	p.E653G	PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGB1_ENST00000523390.1_Intron|RN7SL68P_ENST00000488078.2_RNA|PCDHGB4_ENST00000519479.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA9_ENST00000573521.1_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1	Q9UN70	PCDGK_HUMAN	protocadherin gamma subfamily C, 3	653	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACAATGGGGAGCCTTCGCTC	0.592											OREG0016865	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.E653G		Atlas-SNP	.											.	PCDHGC3	173	.	0			c.A1958G						.						80.0	87.0	85.0					5																	140857641		2203	4300	6503	SO:0001583	missense	5098	exon1			ATGGGGAGCCTTC	AF152337	CCDS4261.1, CCDS75347.1, CCDS75348.1	5q31	2010-01-26			ENSG00000240184	ENSG00000240184		"""Cadherins / Protocadherins : Clustered"""	8716	other	protocadherin	"""cadherin-like 2"", ""protocadherin 2"", ""protocadherin 43"""	603627		PCDH2		9360932, 8508762	Standard	NM_032402		Approved	PC-43, PC43, PCDH-GAMMA-C3		Q9UN70	OTTHUMG00000129613	ENST00000308177.3:c.1958A>G	chr5.hg19:g.140857641A>G	ENSP00000312070:p.Glu653Gly	64.0	0.0	1659	71.0	4.0	NM_032402	O60622|Q08192|Q9Y5C4	Missense_Mutation	SNP	ENST00000308177.3	hg19	CCDS4261.1	.	.	.	.	.	.	.	.	.	.	A	18.35	3.604889	0.66445	.	.	ENSG00000240184	ENST00000308177	T	0.51071	0.72	5.55	2.99	0.34606	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.57829	0.2080	L	0.49126	1.545	0.22435	N	0.999103	D;P	0.64830	0.994;0.493	D;B	0.64595	0.927;0.116	T	0.43814	-0.9368	9	0.87932	D	0	.	8.7518	0.34620	0.8047:0.128:0.0673:0.0	.	653;653	Q9UN70;Q9UN70-2	PCDGK_HUMAN;.	G	653	ENSP00000312070:E653G	ENSP00000312070:E653G	E	+	2	0	PCDHGC3	140837825	0.017000	0.18338	0.988000	0.46212	0.759000	0.43091	2.606000	0.46291	1.082000	0.41137	0.533000	0.62120	GAG	.	.		0.592	PCDHGC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251808.2	NM_002588	
FBXO38	81545	hgsc.bcm.edu	37	5	147788757	147788757	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr5:147788757C>A	ENST00000340253.5	+	8	1107	c.939C>A	c.(937-939)taC>taA	p.Y313*	FBXO38_ENST00000296701.6_Nonsense_Mutation_p.Y313*|FBXO38_ENST00000513826.1_Nonsense_Mutation_p.Y313*|FBXO38_ENST00000509699.2_3'UTR|FBXO38_ENST00000394370.3_Nonsense_Mutation_p.Y313*			Q6PIJ6	FBX38_HUMAN	F-box protein 38	313					cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)			ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCTTGGTTACCTCATCATTA	0.358																																					p.Y313X		Atlas-SNP	.											.	FBXO38	115	.	0			c.C939A						.						253.0	244.0	247.0					5																	147788757		2203	4300	6503	SO:0001587	stop_gained	81545	exon8			TGGTTACCTCATC	BC005873	CCDS43384.1, CCDS64285.1	5q33.1	2008-02-05			ENSG00000145868	ENSG00000145868		"""F-boxes /  ""other"""""	28844	protein-coding gene	gene with protein product		608533				12477932	Standard	NM_030793		Approved	MOKA, SP329, FLJ13962, Fbx38	uc003lpg.2	Q6PIJ6	OTTHUMG00000129929	ENST00000340253.5:c.939C>A	chr5.hg19:g.147788757C>A	ENSP00000342023:p.Tyr313*	242.0	0.0		276.0	70.0	NM_001271723	Q6PK72|Q7Z2U0|Q86VN3|Q9BXY6|Q9H837|Q9HC40	Nonsense_Mutation	SNP	ENST00000340253.5	hg19		.	.	.	.	.	.	.	.	.	.	C	34	5.409339	0.96072	.	.	ENSG00000145868	ENST00000340253;ENST00000296701;ENST00000394370;ENST00000513826	.	.	.	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.3216	18.0666	0.89392	0.0:1.0:0.0:0.0	.	.	.	.	X	313	.	ENSP00000296701:Y313X	Y	+	3	2	FBXO38	147768950	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.655000	0.61476	2.674000	0.91012	0.655000	0.94253	TAC	.	.		0.358	FBXO38-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000252185.2	NM_030793	
AFAP1L1	134265	hgsc.bcm.edu	37	5	148699221	148699221	+	Missense_Mutation	SNP	C	C	T			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr5:148699221C>T	ENST00000296721.4	+	13	1654	c.1556C>T	c.(1555-1557)gCg>gTg	p.A519V	AFAP1L1_ENST00000515000.1_Missense_Mutation_p.A519V	NM_001146337.1|NM_152406.2	NP_001139809.1|NP_689619.1	Q8TED9	AF1L1_HUMAN	actin filament associated protein 1-like 1	519						cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTCCGGAGGCGCTGCACTAT	0.597																																					p.A519V		Atlas-SNP	.											AFAP1L1,NS,carcinoma,0,1	AFAP1L1	86	.	0			c.C1556T						.						80.0	76.0	77.0					5																	148699221		2203	4300	6503	SO:0001583	missense	134265	exon13			CGGAGGCGCTGCA	AK094067	CCDS34274.1, CCDS54932.1	5q33.1	2013-01-10			ENSG00000157510	ENSG00000157510		"""Pleckstrin homology (PH) domain containing"""	26714	protein-coding gene	gene with protein product		614410					Standard	NM_152406		Approved	FLJ36748	uc003lqh.3	Q8TED9	OTTHUMG00000163441	ENST00000296721.4:c.1556C>T	chr5.hg19:g.148699221C>T	ENSP00000296721:p.Ala519Val	88.0	0.0		111.0	25.0	NM_001146337	Q08AN4|Q08AN5|Q8IW82|Q8N8Z5|Q8N9Q4	Missense_Mutation	SNP	ENST00000296721.4	hg19	CCDS34274.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.908963	0.92107	.	.	ENSG00000157510	ENST00000296721;ENST00000515000	T;T	0.17370	2.28;2.28	5.98	5.98	0.97165	.	0.227351	0.43919	D	0.000516	T	0.42268	0.1195	M	0.68593	2.085	0.80722	D	1	D;D	0.76494	0.997;0.999	D;P	0.64410	0.925;0.883	T	0.05971	-1.0853	10	0.56958	D	0.05	-17.9497	20.4581	0.99154	0.0:1.0:0.0:0.0	.	519;519	Q8TED9-2;Q8TED9	.;AF1L1_HUMAN	V	519	ENSP00000296721:A519V;ENSP00000424427:A519V	ENSP00000296721:A519V	A	+	2	0	AFAP1L1	148679414	1.000000	0.71417	0.968000	0.41197	0.421000	0.31385	7.818000	0.86416	2.835000	0.97688	0.650000	0.86243	GCG	.	.		0.597	AFAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373443.1	NM_152406	
NMUR2	56923	hgsc.bcm.edu	37	5	151784407	151784407	+	Missense_Mutation	SNP	A	A	T			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr5:151784407A>T	ENST00000255262.3	-	1	433	c.268T>A	c.(268-270)Tct>Act	p.S90T	NMUR2_ENST00000518933.1_Intron	NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	90					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|arachidonic acid secretion (GO:0050482)|calcium ion transport (GO:0006816)|calcium-mediated signaling (GO:0019722)|cell-cell signaling (GO:0007267)|central nervous system development (GO:0007417)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|feeding behavior (GO:0007631)|grooming behavior (GO:0007625)|inositol phosphate-mediated signaling (GO:0048016)|neuropeptide signaling pathway (GO:0007218)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|reduction of food intake in response to dietary excess (GO:0002023)|regulation of smooth muscle contraction (GO:0006940)|response to pain (GO:0048265)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|GTP binding (GO:0005525)|intracellular calcium activated chloride channel activity (GO:0005229)|neuromedin U binding (GO:0042924)|neuromedin U receptor activity (GO:0001607)			breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			AGGAGGTCAGAGACCGCCAGG	0.577																																					p.S90T		Atlas-SNP	.											.	NMUR2	111	.	0			c.T268A						.						103.0	105.0	105.0					5																	151784407		2203	4300	6503	SO:0001583	missense	56923	exon1			GGTCAGAGACCGC	AF242874	CCDS4321.1	5q33.1	2012-08-08		2004-05-28	ENSG00000132911	ENSG00000132911		"""GPCR / Class A : Neuromedin U receptors"""	16454	protein-coding gene	gene with protein product		605108		NMU2R		8940772, 10894543	Standard	NM_020167		Approved		uc003luv.2	Q9GZQ4	OTTHUMG00000130131	ENST00000255262.3:c.268T>A	chr5.hg19:g.151784407A>T	ENSP00000255262:p.Ser90Thr	100.0	0.0		109.0	56.0	NM_020167	Q7LC54|Q96AM5|Q9NRA6	Missense_Mutation	SNP	ENST00000255262.3	hg19	CCDS4321.1	.	.	.	.	.	.	.	.	.	.	A	16.64	3.179685	0.57800	.	.	ENSG00000132911	ENST00000255262	T	0.72725	-0.68	5.54	5.54	0.83059	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000001	D	0.85427	0.5694	M	0.84846	2.72	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.87908	0.2695	10	0.87932	D	0	-17.1613	14.8781	0.70510	1.0:0.0:0.0:0.0	.	90	Q9GZQ4	NMUR2_HUMAN	T	90	ENSP00000255262:S90T	ENSP00000255262:S90T	S	-	1	0	NMUR2	151764600	1.000000	0.71417	0.316000	0.25252	0.145000	0.21501	8.999000	0.93557	2.108000	0.64289	0.533000	0.62120	TCT	.	.		0.577	NMUR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252439.1	NM_020167	
SH3PXD2B	285590	hgsc.bcm.edu	37	5	171780994	171780994	+	Missense_Mutation	SNP	A	A	G			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr5:171780994A>G	ENST00000311601.5	-	9	853	c.683T>C	c.(682-684)gTc>gCc	p.V228A	SH3PXD2B_ENST00000519643.1_Missense_Mutation_p.V228A	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	228	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				adipose tissue development (GO:0060612)|bone development (GO:0060348)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|eye development (GO:0001654)|heart development (GO:0007507)|podosome assembly (GO:0071800)|positive regulation of fat cell differentiation (GO:0045600)|protein localization to membrane (GO:0072657)|skeletal system development (GO:0001501)|superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|SH2 domain binding (GO:0042169)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CGGGTAGATGACTGTGTACTT	0.562																																					p.V228A		Atlas-SNP	.											.	SH3PXD2B	91	.	0			c.T683C						.						94.0	82.0	86.0					5																	171780994		2203	4300	6503	SO:0001583	missense	285590	exon9			TAGATGACTGTGT	AK095834	CCDS34291.1	5q35.2	2008-02-05	2006-02-13	2006-02-13	ENSG00000174705	ENSG00000174705			29242	protein-coding gene	gene with protein product		613293	"""KIAA1295"""	KIAA1295		10718198	Standard	NM_001017995		Approved	FLJ20831	uc003mbr.3	A1X283	OTTHUMG00000163280	ENST00000311601.5:c.683T>C	chr5.hg19:g.171780994A>G	ENSP00000309714:p.Val228Ala	65.0	0.0		108.0	5.0	NM_001017995	B6F0V2|Q9P2Q1	Missense_Mutation	SNP	ENST00000311601.5	hg19	CCDS34291.1	.	.	.	.	.	.	.	.	.	.	A	13.93	2.384861	0.42308	.	.	ENSG00000174705	ENST00000519643;ENST00000311601	T;T	0.09073	3.02;3.02	5.85	5.85	0.93711	Src homology-3 domain (4);	0.065948	0.64402	D	0.000009	T	0.06690	0.0171	N	0.05050	-0.12	0.58432	D	0.999996	B	0.28400	0.21	B	0.37091	0.241	T	0.49960	-0.8883	10	0.39692	T	0.17	-31.9998	14.1823	0.65583	1.0:0.0:0.0:0.0	.	228	A1X283	SPD2B_HUMAN	A	228	ENSP00000430890:V228A;ENSP00000309714:V228A	ENSP00000309714:V228A	V	-	2	0	SH3PXD2B	171713599	1.000000	0.71417	0.997000	0.53966	0.909000	0.53808	4.209000	0.58493	2.233000	0.73108	0.533000	0.62120	GTC	.	.		0.562	SH3PXD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372449.1	NM_017963	
ZNF354C	30832	hgsc.bcm.edu	37	5	178506491	178506491	+	Missense_Mutation	SNP	A	A	G			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr5:178506491A>G	ENST00000315475.6	+	5	1364	c.1058A>G	c.(1057-1059)gAg>gGg	p.E353G		NM_014594.1	NP_055409.1	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	353					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(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)		CATACAGGTGAGAAACCCTAT	0.418																																					p.E353G		Atlas-SNP	.											.	ZNF354C	77	.	0			c.A1058G						.						125.0	134.0	131.0					5																	178506491		2203	4300	6503	SO:0001583	missense	30832	exon5			CAGGTGAGAAACC		CCDS4443.1	5q35	2013-01-08			ENSG00000177932	ENSG00000177932		"""Zinc fingers, C2H2-type"", ""-"""	16736	protein-coding gene	gene with protein product						10786630	Standard	NM_014594		Approved	KID3	uc003mju.3	Q86Y25	OTTHUMG00000130888	ENST00000315475.6:c.1058A>G	chr5.hg19:g.178506491A>G	ENSP00000324064:p.Glu353Gly	48.0	0.0		82.0	4.0	NM_014594	Q6P4P9|Q8NFX1	Missense_Mutation	SNP	ENST00000315475.6	hg19	CCDS4443.1	.	.	.	.	.	.	.	.	.	.	A	19.90	3.913573	0.72983	.	.	ENSG00000177932	ENST00000315475	T	0.27557	1.66	4.04	4.04	0.47022	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.48960	0.1529	L	0.60957	1.885	0.44745	D	0.997748	D	0.89917	1.0	D	0.77004	0.989	T	0.51100	-0.8748	9	0.87932	D	0	-17.7393	11.2691	0.49127	1.0:0.0:0.0:0.0	.	353	Q86Y25	Z354C_HUMAN	G	353	ENSP00000324064:E353G	ENSP00000324064:E353G	E	+	2	0	ZNF354C	178439097	1.000000	0.71417	0.996000	0.52242	0.865000	0.49528	8.743000	0.91592	1.808000	0.52836	0.482000	0.46254	GAG	.	.		0.418	ZNF354C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253473.2		
CNOT6	57472	hgsc.bcm.edu	37	5	179956371	179956371	+	Missense_Mutation	SNP	C	C	G			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr5:179956371C>G	ENST00000393356.1	+	4	519	c.95C>G	c.(94-96)gCa>gGa	p.A32G	CNOT6_ENST00000502447.1_3'UTR|CNOT6_ENST00000261951.4_Missense_Mutation_p.A32G			Q9ULM6	CNOT6_HUMAN	CCR4-NOT transcription complex, subunit 6	32					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|gene silencing by miRNA (GO:0035195)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of ligand-dependent nuclear receptor transcription coactivator activity (GO:2000327)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	exoribonuclease activity (GO:0004532)|metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|skin(1)	23	all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.023)		TCCCACTGGGCAGAGCTTGAA	0.408																																					p.A32G		Atlas-SNP	.											.	CNOT6	47	.	0			c.C95G						.						70.0	81.0	77.0					5																	179956371		2203	4300	6503	SO:0001583	missense	57472	exon2			ACTGGGCAGAGCT	AB033020	CCDS4455.1	5q35.3	2014-06-17			ENSG00000113300	ENSG00000113300			14099	protein-coding gene	gene with protein product		608951				11889047	Standard	XM_005265953		Approved	CCR4, KIAA1194, Ccr4a	uc003mlx.3	Q9ULM6	OTTHUMG00000130935	ENST00000393356.1:c.95C>G	chr5.hg19:g.179956371C>G	ENSP00000377024:p.Ala32Gly	202.0	0.0		179.0	39.0	NM_015455	A7MD46|D3DWR0	Missense_Mutation	SNP	ENST00000393356.1	hg19	CCDS4455.1	.	.	.	.	.	.	.	.	.	.	C	15.50	2.853025	0.51270	.	.	ENSG00000113300	ENST00000261951;ENST00000393356;ENST00000504343	T;T;T	0.45668	1.49;1.49;0.89	5.91	4.05	0.47172	.	0.050944	0.85682	D	0.000000	T	0.29524	0.0736	L	0.36672	1.1	0.58432	D	0.999999	B	0.20550	0.046	B	0.23275	0.045	T	0.06588	-1.0818	9	.	.	.	-1.465	7.2312	0.26043	0.1344:0.7203:0.0:0.1453	.	32	Q9ULM6	CNOT6_HUMAN	G	32	ENSP00000261951:A32G;ENSP00000377024:A32G;ENSP00000422087:A32G	.	A	+	2	0	CNOT6	179888977	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	2.985000	0.49362	0.757000	0.33036	-0.136000	0.14681	GCA	.	.		0.408	CNOT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253532.1	NM_015455	
RIOK1	83732	hgsc.bcm.edu	37	6	7405545	7405545	+	Missense_Mutation	SNP	A	A	G			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr6:7405545A>G	ENST00000379834.2	+	12	1667	c.1160A>G	c.(1159-1161)gAt>gGt	p.D387G		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	387	Protein kinase.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					TTTGTCACAGATCCATCCATT	0.418																																					p.D387G		Atlas-SNP	.											.	RIOK1	36	.	0			c.A1160G						.						96.0	81.0	86.0					6																	7405545		2203	4300	6503	SO:0001583	missense	83732	exon12			TCACAGATCCATC	BC006104	CCDS4500.1	6p24.3	2012-12-10	2012-12-10		ENSG00000124784	ENSG00000124784			18656	protein-coding gene	gene with protein product			"""RIO kinase 1 (yeast)"""				Standard	NM_031480		Approved	AD034, FLJ30006, bA288G3.1, RRP10	uc003mxn.3	Q9BRS2	OTTHUMG00000014207	ENST00000379834.2:c.1160A>G	chr6.hg19:g.7405545A>G	ENSP00000369162:p.Asp387Gly	92.0	0.0		93.0	4.0	NM_031480	B2RB28|Q8NDC8|Q96NV9	Missense_Mutation	SNP	ENST00000379834.2	hg19	CCDS4500.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.164814	0.78339	.	.	ENSG00000124784	ENST00000379834	T	0.07021	3.23	5.57	5.57	0.84162	RIO kinase (1);	0.000000	0.85682	D	0.000000	T	0.05547	0.0146	L	0.46157	1.445	0.80722	D	1	P	0.36282	0.546	B	0.40602	0.334	T	0.39742	-0.9599	10	0.27785	T	0.31	-27.8533	14.9078	0.70733	1.0:0.0:0.0:0.0	.	387	Q9BRS2	RIOK1_HUMAN	G	387	ENSP00000369162:D387G	ENSP00000369162:D387G	D	+	2	0	RIOK1	7350544	1.000000	0.71417	0.949000	0.38748	0.989000	0.77384	8.546000	0.90661	2.114000	0.64651	0.455000	0.32223	GAT	.	.		0.418	RIOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039780.2	NM_031480	
PRSS16	10279	hgsc.bcm.edu	37	6	27220676	27220676	+	Silent	SNP	T	T	C			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr6:27220676T>C	ENST00000230582.3	+	9	1113	c.1098T>C	c.(1096-1098)tcT>tcC	p.S366S	PRSS16_ENST00000377456.2_Intron|PRSS16_ENST00000421826.2_Silent_p.S109S	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN	protease, serine, 16 (thymus)	366					protein catabolic process (GO:0030163)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|lysosome (GO:0005764)	serine-type peptidase activity (GO:0008236)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						CTCAACTGTCTGGTGTGGGTG	0.507																																					p.S366S	NSCLC(178;1118 2105 17078 23587 44429)	Atlas-SNP	.											.	PRSS16	66	.	0			c.T1098C						.						228.0	184.0	199.0					6																	27220676		2203	4300	6503	SO:0001819	synonymous_variant	10279	exon9			ACTGTCTGGTGTG	AF052514	CCDS4623.1	6p21	2010-05-07			ENSG00000112812	ENSG00000112812		"""Serine peptidases / Serine peptidases"""	9480	protein-coding gene	gene with protein product		607169				10527559	Standard	NM_005865		Approved	TSSP	uc003nja.3	Q9NQE7	OTTHUMG00000016167	ENST00000230582.3:c.1098T>C	chr6.hg19:g.27220676T>C		201.0	0.0		215.0	83.0	NM_005865	O75416	Silent	SNP	ENST00000230582.3	hg19	CCDS4623.1	.	.	.	.	.	.	.	.	.	.	T	7.642	0.681097	0.14907	.	.	ENSG00000112812	ENST00000485993;ENST00000475106	.	.	.	4.26	-8.51	0.00923	.	.	.	.	.	T	0.27559	0.0677	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.53809	-0.8386	5	0.87932	D	0	-2.633	12.6885	0.56962	0.0:0.118:0.1712:0.7107	.	.	.	.	R	119;145	.	ENSP00000396589:W143R	W	+	1	0	PRSS16	27328655	0.000000	0.05858	0.000000	0.03702	0.069000	0.16628	-2.284000	0.01154	-2.793000	0.00355	-2.020000	0.00432	TGG	.	.		0.507	PRSS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043418.2		
GTF2H4	2968	hgsc.bcm.edu	37	6	30880224	30880224	+	Missense_Mutation	SNP	A	A	G			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr6:30880224A>G	ENST00000259895.4	+	11	1301	c.1078A>G	c.(1078-1080)Aca>Gca	p.T360A	VARS2_ENST00000416670.2_5'Flank|GTF2H4_ENST00000376316.2_Missense_Mutation_p.T360A|VARS2_ENST00000542001.1_5'Flank|VARS2_ENST00000541562.1_5'Flank|VARS2_ENST00000321897.5_5'Flank	NM_001517.4	NP_001508.1	Q92759	TF2H4_HUMAN	general transcription factor IIH, polypeptide 4, 52kDa	360					7-methylguanosine mRNA capping (GO:0006370)|ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|gene expression (GO:0010467)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|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)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	core TFIIH complex (GO:0000439)|holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)	ATP-dependent DNA helicase activity (GO:0004003)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						CAGTGGCATCACAGCCCAGCA	0.597								Nucleotide excision repair (NER)																													p.T360A		Atlas-SNP	.											.	GTF2H4	38	.	0			c.A1078G						.						94.0	90.0	92.0					6																	30880224		1511	2709	4220	SO:0001583	missense	2968	exon11			GGCATCACAGCCC	Y07595	CCDS34386.1	6p21.3	2012-11-05	2002-08-29		ENSG00000213780	ENSG00000213780		"""General transcription factors"", ""General transcription factor IIH complex subunits"""	4658	protein-coding gene	gene with protein product		601760	"""general transcription factor IIH, polypeptide 4 (52kD subunit)"""			9118947	Standard	NM_001517		Approved	TFB2, TFIIH, P52	uc003nsa.1	Q92759	OTTHUMG00000031043	ENST00000259895.4:c.1078A>G	chr6.hg19:g.30880224A>G	ENSP00000259895:p.Thr360Ala	82.0	0.0		85.0	4.0	NM_001517	B4DTJ5|Q76KU4	Missense_Mutation	SNP	ENST00000259895.4	hg19	CCDS34386.1	.	.	.	.	.	.	.	.	.	.	A	22.4	4.283593	0.80803	.	.	ENSG00000213780	ENST00000259895;ENST00000376316	T;T	0.53857	0.6;0.6	5.31	5.31	0.75309	.	0.000000	0.85682	U	0.000000	T	0.64811	0.2632	M	0.85041	2.73	0.80722	D	1	D;D	0.58620	0.983;0.971	P;P	0.60286	0.832;0.872	T	0.71404	-0.4603	10	0.56958	D	0.05	-16.9388	13.2225	0.59896	1.0:0.0:0.0:0.0	.	366;360	B4DNU0;Q92759	.;TF2H4_HUMAN	A	360	ENSP00000259895:T360A;ENSP00000365493:T360A	ENSP00000259895:T360A	T	+	1	0	GTF2H4	30988203	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.692000	0.91284	2.023000	0.59567	0.482000	0.46254	ACA	.	.		0.597	GTF2H4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076044.3	NM_001517	
DPCR1	135656	hgsc.bcm.edu	37	6	30917315	30917315	+	Silent	SNP	A	A	G			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr6:30917315A>G	ENST00000462446.1	+	2	1102	c.1074A>G	c.(1072-1074)ccA>ccG	p.P358P	DPCR1_ENST00000304311.2_5'UTR|HCG21_ENST00000419481.1_RNA			Q3MIW9	DPCR1_HUMAN	diffuse panbronchiolitis critical region 1	349	Thr-rich.					integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)	10						CACTATTCCCAGCAGAGCCTA	0.478																																					p.P358P		Atlas-SNP	.											.	DPCR1	99	.	0			c.A1074G						.						153.0	135.0	141.0					6																	30917315		692	1591	2283	SO:0001819	synonymous_variant	135656	exon2			ATTCCCAGCAGAG	AB064272	CCDS4692.1, CCDS4692.2	6p21.32	2008-02-05			ENSG00000168631	ENSG00000168631			21666	protein-coding gene	gene with protein product		613928				12185533, 10677310	Standard	NM_080870		Approved	PBLT, bCX105N19.6	uc003nsg.2	Q3MIW9	OTTHUMG00000031104	ENST00000462446.1:c.1074A>G	chr6.hg19:g.30917315A>G		108.0	0.0		98.0	4.0	NM_080870	C9IZC0|Q658M7|Q8WYN2	Silent	SNP	ENST00000462446.1	hg19	CCDS4692.2																																																																																			.	.		0.478	DPCR1-001	NOVEL	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076173.3	NM_080870	
PSORS1C1	170679	hgsc.bcm.edu	37	6	31084902	31084902	+	Intron	SNP	T	T	C			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr6:31084902T>C	ENST00000259881.9	+	1	61				CDSN_ENST00000376288.2_Missense_Mutation_p.S164G|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						CTGCTGCTGCTGAACTGAAAG	0.562																																					p.S164G		Atlas-SNP	.											.	CDSN	48	.	0			c.A490G						.						47.0	50.0	49.0					6																	31084902		2203	4300	6503	SO:0001627	intron_variant	1041	exon2			TGCTGCTGAACTG	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+2234T>C	chr6.hg19:g.31084902T>C		74.0	0.0		98.0	4.0	NM_001264	B0V083|Q5ST21|Q86WJ8|Q86WJ9|Q96QC3	Missense_Mutation	SNP	ENST00000259881.9	hg19	CCDS34390.1	.	.	.	.	.	.	.	.	.	.	T	0.907	-0.720404	0.03182	.	.	ENSG00000204539	ENST00000376288	T	0.06768	3.26	2.38	-3.88	0.04205	.	.	.	.	.	T	0.01156	0.0038	L	0.38175	1.15	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48068	-0.9067	9	0.07990	T	0.79	.	2.8449	0.05540	0.2082:0.3125:0.0:0.4793	.	164	Q15517	CDSN_HUMAN	G	164	ENSP00000365465:S164G	ENSP00000365465:S164G	S	-	1	0	CDSN	31192881	0.455000	0.25736	0.000000	0.03702	0.001000	0.01503	0.273000	0.18662	-0.510000	0.06523	-0.474000	0.04947	AGC	.	.		0.562	PSORS1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076110.3	NM_014068	
FGD2	221472	hgsc.bcm.edu	37	6	36982465	36982465	+	Silent	SNP	A	A	G			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr6:36982465A>G	ENST00000274963.8	+	7	1038	c.867A>G	c.(865-867)gcA>gcG	p.A289A		NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2	289	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|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)			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						ACTCCAATGCAGCCATCACTG	0.612																																					p.A289A		Atlas-SNP	.											.	FGD2	65	.	0			c.A867G						.						69.0	67.0	68.0					6																	36982465		2203	4300	6503	SO:0001819	synonymous_variant	221472	exon7			CAATGCAGCCATC	AK097230	CCDS4829.1	6p21.2	2013-01-10	2004-08-24		ENSG00000146192	ENSG00000146192		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	3664	protein-coding gene	gene with protein product		605091	"""FGD1 family, member 2"""			10458911	Standard	NM_173558		Approved	ZFYVE4	uc010jwp.1	Q7Z6J4	OTTHUMG00000014616	ENST00000274963.8:c.867A>G	chr6.hg19:g.36982465A>G		102.0	0.0		94.0	4.0	NM_173558	Q5T8I1|Q6P6A8|Q6ZNL5|Q8IZ32|Q8N868|Q9H7M2	Silent	SNP	ENST00000274963.8	hg19	CCDS4829.1																																																																																			.	.		0.612	FGD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040398.2	NM_173558	
KIF6	221458	hgsc.bcm.edu	37	6	39513359	39513359	+	Splice_Site	SNP	C	C	T			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr6:39513359C>T	ENST00000287152.7	-	11	1381	c.1287G>A	c.(1285-1287)aaG>aaA	p.K429K	KIF6_ENST00000373216.3_Splice_Site_p.K429K|KIF6_ENST00000538893.1_Splice_Site_p.K429K|KIF6_ENST00000373215.3_Splice_Site_p.K429K|KIF6_ENST00000373213.4_Splice_Site_p.K268K	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	429					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|male germ cell nucleus (GO:0001673)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						TTAAGTTTACCTTTAAATGAT	0.378																																					p.K429K		Atlas-SNP	.											.	KIF6	233	.	0			c.G1287A						.						77.0	74.0	75.0					6																	39513359		2203	4300	6503	SO:0001630	splice_region_variant	221458	exon11			GTTTACCTTTAAA	AL832634	CCDS4844.1, CCDS75449.1	6p21.2	2010-03-30			ENSG00000164627	ENSG00000164627		"""Kinesins"""	21202	protein-coding gene	gene with protein product		613919	"""chromosome 6 open reading frame 102"""	C6orf102			Standard	NM_145027		Approved	dJ1043E3.1, MGC33317, dJ137F1.4, dJ188D3.1, DKFZp451I2418	uc003oot.2	Q6ZMV9	OTTHUMG00000014648	ENST00000287152.7:c.1287+1G>A	chr6.hg19:g.39513359C>T		81.0	0.0		54.0	21.0	NM_145027	Q2MDE3|Q2MDE4|Q5T8J6|Q6ZWE3|Q86T87|Q8WTV4	Silent	SNP	ENST00000287152.7	hg19	CCDS4844.1	.	.	.	.	.	.	.	.	.	.	C	13.97	2.396884	0.42512	.	.	ENSG00000164627	ENST00000458470	.	.	.	5.56	5.56	0.83823	.	.	.	.	.	T	0.64170	0.2574	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63075	-0.6718	4	.	.	.	.	15.0307	0.71705	0.0:1.0:0.0:0.0	.	.	.	.	K	321	.	.	R	-	2	0	KIF6	39621337	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	4.095000	0.57728	2.609000	0.88269	0.561000	0.74099	AGA	.	.		0.378	KIF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040455.2	NM_145027	Silent
XPO5	57510	hgsc.bcm.edu	37	6	43530011	43530011	+	Silent	SNP	C	C	T			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr6:43530011C>T	ENST00000265351.7	-	9	1194	c.984G>A	c.(982-984)gcG>gcA	p.A328A	RP3-337H4.10_ENST00000607635.1_RNA	NM_020750.2	NP_065801.1	Q9HAV4	XPO5_HUMAN	exportin 5	328					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|RNA binding (GO:0003723)|tRNA binding (GO:0000049)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	34	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)			GATTGCCCAGCGCACACAACA	0.453																																					p.A328A		Atlas-SNP	.											.	XPO5	79	.	0			c.G984A						.						77.0	88.0	84.0					6																	43530011		2097	4247	6344	SO:0001819	synonymous_variant	57510	exon9			GCCCAGCGCACAC	AB033117	CCDS47430.1	6p21.1	2011-04-13			ENSG00000124571	ENSG00000124571		"""Exportins"""	17675	protein-coding gene	gene with protein product		607845				11777942, 12426392	Standard	NM_020750		Approved	KIAA1291	uc003ovp.3	Q9HAV4	OTTHUMG00000014742	ENST00000265351.7:c.984G>A	chr6.hg19:g.43530011C>T		98.0	0.0		96.0	4.0	NM_020750	Q5JTE6|Q96G48|Q96HN3|Q9BWM6|Q9BZV5|Q9H9M4|Q9NT89|Q9NW39|Q9ULC9	Silent	SNP	ENST00000265351.7	hg19	CCDS47430.1																																																																																			.	.		0.453	XPO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040657.2	NM_020750	
PAQR8	85315	hgsc.bcm.edu	37	6	52268756	52268756	+	Missense_Mutation	SNP	A	A	G			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr6:52268756A>G	ENST00000442253.2	+	2	919	c.745A>G	c.(745-747)Acc>Gcc	p.T249A	PAQR8_ENST00000360726.3_Missense_Mutation_p.T249A	NM_133367.4	NP_588608.1	Q8TEZ7	MPRB_HUMAN	progestin and adipoQ receptor family member VIII	249					multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|response to steroid hormone (GO:0048545)|steroid hormone mediated signaling pathway (GO:0043401)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)			endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(2)	17	Lung NSC(77;0.0875)					CTGGTACCACACCCTCCAGAT	0.592																																					p.T249A		Atlas-SNP	.											.	PAQR8	31	.	0			c.A745G						.						109.0	101.0	103.0					6																	52268756		2203	4300	6503	SO:0001583	missense	85315	exon2			TACCACACCCTCC	AF347029	CCDS4941.1	6p12	2012-08-10	2005-05-20	2005-05-20	ENSG00000170915	ENSG00000170915			15708	protein-coding gene	gene with protein product		607780	"""chromosome 6 open reading frame 33"""	C6orf33		11676489, 12574519	Standard	NM_133367		Approved	LMPB1, MPRB	uc003pao.4	Q8TEZ7	OTTHUMG00000014846	ENST00000442253.2:c.745A>G	chr6.hg19:g.52268756A>G	ENSP00000406197:p.Thr249Ala	105.0	0.0		126.0	6.0	NM_133367	B2RCF6|Q86WL0|Q8N6D3|Q9HD02	Missense_Mutation	SNP	ENST00000442253.2	hg19	CCDS4941.1	.	.	.	.	.	.	.	.	.	.	A	7.385	0.629660	0.14257	.	.	ENSG00000170915	ENST00000442253;ENST00000360726	T;T	0.27720	1.65;1.65	5.64	3.25	0.37280	.	0.267638	0.38663	N	0.001608	T	0.02727	0.0082	N	0.01493	-0.835	0.36975	D	0.894039	B	0.02656	0.0	B	0.06405	0.002	T	0.33548	-0.9864	9	.	.	.	-9.288	4.4167	0.11459	0.7039:0.0:0.1478:0.1483	.	249	Q8TEZ7	MPRB_HUMAN	A	249	ENSP00000406197:T249A;ENSP00000353953:T249A	.	T	+	1	0	PAQR8	52376715	0.867000	0.29959	1.000000	0.80357	0.998000	0.95712	1.213000	0.32407	0.948000	0.37687	0.533000	0.62120	ACC	.	.		0.592	PAQR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040903.2	NM_133367	
COL12A1	1303	hgsc.bcm.edu	37	6	75893787	75893787	+	Silent	SNP	A	A	G			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr6:75893787A>G	ENST00000322507.8	-	9	1380	c.1071T>C	c.(1069-1071)tcT>tcC	p.S357S	COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000416123.2_Silent_p.S357S|COL12A1_ENST00000483888.2_Silent_p.S357S	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	357	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						CTGGACTAGGAGATGGATTCC	0.458																																					p.S357S		Atlas-SNP	.											.	COL12A1	385	.	0			c.T1071C						.						72.0	69.0	70.0					6																	75893787		1942	4151	6093	SO:0001819	synonymous_variant	1303	exon9			ACTAGGAGATGGA	U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.1071T>C	chr6.hg19:g.75893787A>G		125.0	0.0		90.0	4.0	NM_004370	O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Silent	SNP	ENST00000322507.8	hg19	CCDS43482.1																																																																																			.	.		0.458	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370	
SENP6	26054	hgsc.bcm.edu	37	6	76380428	76380428	+	Missense_Mutation	SNP	C	C	T			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr6:76380428C>T	ENST00000447266.2	+	11	1862	c.1384C>T	c.(1384-1386)Cct>Tct	p.P462S	SENP6_ENST00000370014.3_Missense_Mutation_p.P462S|SENP6_ENST00000541192.1_Missense_Mutation_p.P58S|SENP6_ENST00000370010.2_Missense_Mutation_p.P455S|SENP6_ENST00000327284.8_Missense_Mutation_p.P455S	NM_015571.2	NP_056386.2	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	462					protein desumoylation (GO:0016926)|protein modification by small protein removal (GO:0070646)|protein sumoylation (GO:0016925)|regulation of kinetochore assembly (GO:0090234)|regulation of spindle assembly (GO:0090169)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	SUMO-specific protease activity (GO:0016929)			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				GTTAATAGAGCCTGTAATTGT	0.313																																					p.P462S		Atlas-SNP	.											SENP6_ENST00000447266,caecum,carcinoma,0,2	SENP6	189	.	0			c.C1384T						.						59.0	49.0	52.0					6																	76380428		1813	4077	5890	SO:0001583	missense	26054	exon11			ATAGAGCCTGTAA		CCDS43483.1, CCDS47454.1	6q13-q14.3	2008-02-05	2005-08-17		ENSG00000112701	ENSG00000112701			20944	protein-coding gene	gene with protein product		605003	"""SUMO1/sentrin specific protease 6"""				Standard	NM_015571		Approved	SUSP1, KIAA0797	uc003pid.4	Q9GZR1	OTTHUMG00000015060	ENST00000447266.2:c.1384C>T	chr6.hg19:g.76380428C>T	ENSP00000402527:p.Pro462Ser	28.0	0.0		29.0	3.0	NM_015571	A6NNY9|O94891|Q5VUL3|Q5VUL4|Q8TBY4|Q9UJV5	Missense_Mutation	SNP	ENST00000447266.2	hg19	CCDS47454.1	.	.	.	.	.	.	.	.	.	.	C	17.82	3.482375	0.63962	.	.	ENSG00000112701	ENST00000370010;ENST00000370014;ENST00000538088;ENST00000327284;ENST00000447266;ENST00000424947;ENST00000541192	T;T;T;T;T;T	0.32515	2.62;2.65;1.45;2.63;1.46;1.47	5.79	5.79	0.91817	.	0.050110	0.85682	D	0.000000	T	0.45637	0.1352	M	0.67953	2.075	0.48511	D	0.999664	P;D;D	0.76494	0.908;0.999;0.998	P;D;D	0.69142	0.465;0.931;0.962	T	0.08006	-1.0743	10	0.24483	T	0.36	-11.7436	20.0411	0.97590	0.0:1.0:0.0:0.0	.	455;462;455	Q9GZR1-2;Q9GZR1;F8W6D9	.;SENP6_HUMAN;.	S	455;462;311;455;462;352;58	ENSP00000359027:P455S;ENSP00000359031:P462S;ENSP00000321820:P455S;ENSP00000402527:P462S;ENSP00000391426:P352S;ENSP00000441715:P58S	ENSP00000321820:P455S	P	+	1	0	SENP6	76437148	1.000000	0.71417	0.998000	0.56505	0.788000	0.44548	5.356000	0.66052	2.739000	0.93911	0.655000	0.94253	CCT	.	.		0.313	SENP6-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041272.2	NM_015571	
ASCC3	10973	hgsc.bcm.edu	37	6	101095306	101095306	+	Missense_Mutation	SNP	C	C	T			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr6:101095306C>T	ENST00000369162.2	-	21	3618	c.3274G>A	c.(3274-3276)Gct>Act	p.A1092T		NM_006828.2	NP_006819.2	Q8N3C0	ASCC3_HUMAN	activating signal cointegrator 1 complex subunit 3	1092	SEC63 1.				cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA duplex unwinding (GO:0032508)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		TCAAAAAGAGCACGGACAATT	0.388																																					p.A1092T		Atlas-SNP	.											ASCC3,NS,carcinoma,0,1	ASCC3	205	.	0			c.G3274A						.						76.0	75.0	76.0					6																	101095306		2203	4300	6503	SO:0001583	missense	10973	exon21			AAAGAGCACGGAC	AJ223948	CCDS5046.1, CCDS5047.1, CCDS75497.1	6q16	2008-02-05		2004-07-28	ENSG00000112249	ENSG00000112249			18697	protein-coding gene	gene with protein product	"""RNA helicase family"""	614217	"""helicase, ATP binding 1"""	HELIC1		10218103	Standard	NM_006828		Approved	RNAH, ASC1p200, dJ121G13.4, dJ467N11.1	uc003pqk.3	Q8N3C0	OTTHUMG00000015279	ENST00000369162.2:c.3274G>A	chr6.hg19:g.101095306C>T	ENSP00000358159:p.Ala1092Thr	71.0	0.0		64.0	3.0	NM_006828	E7EW23|O43738|Q4G1A0|Q5VTN2|Q9H1I9|Q9H5A2|Q9NTR0	Missense_Mutation	SNP	ENST00000369162.2	hg19	CCDS5046.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.891861	0.91889	.	.	ENSG00000112249	ENST00000369162	T	0.68624	-0.34	5.83	5.83	0.93111	Sec63 domain (3);	0.000000	0.85682	D	0.000000	D	0.82733	0.5101	M	0.85777	2.775	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.84347	0.0530	10	0.87932	D	0	.	20.1208	0.97960	0.0:1.0:0.0:0.0	.	1092	Q8N3C0	HELC1_HUMAN	T	1092	ENSP00000358159:A1092T	ENSP00000358159:A1092T	A	-	1	0	ASCC3	101202027	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.869000	0.69613	2.758000	0.94735	0.655000	0.94253	GCT	.	.		0.388	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041632.2	NM_006828	
AIM1	202	hgsc.bcm.edu	37	6	106967638	106967638	+	Missense_Mutation	SNP	T	T	C			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr6:106967638T>C	ENST00000369066.3	+	2	1818	c.1331T>C	c.(1330-1332)aTg>aCg	p.M444T		NM_001624.2	NP_001615	Q9UMX9	S45A2_HUMAN	absent in melanoma 1	0					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		CCAACGGCCATGCCAAAGCCA	0.517																																					p.M444T		Atlas-SNP	.											.	AIM1	161	.	0			c.T1331C						.						111.0	102.0	105.0					6																	106967638		2203	4300	6503	SO:0001583	missense	202	exon2			CGGCCATGCCAAA	U83115	CCDS34506.1	6q21	2014-01-29			ENSG00000112297	ENSG00000112297			356	protein-coding gene	gene with protein product	"""suppression of tumorigenicity 4"", ""beta-gamma crystallin domain containing 1"""	601797	"""suppression of tumorigenicity 4 (malignant melanoma)"""	ST4		1680551, 12693952	Standard	NM_001624		Approved	CRYBG1	uc003prh.3	Q9Y4K1	OTTHUMG00000015302	ENST00000369066.3:c.1331T>C	chr6.hg19:g.106967638T>C	ENSP00000358062:p.Met444Thr	80.0	0.0		92.0	4.0	NM_001624	Q6P2P0|Q9BTM3	Missense_Mutation	SNP	ENST00000369066.3	hg19	CCDS34506.1	.	.	.	.	.	.	.	.	.	.	T	1.192	-0.634926	0.03584	.	.	ENSG00000112297	ENST00000285105;ENST00000369066	T	0.70164	-0.46	5.16	-10.3	0.00346	.	2.220720	0.02065	N	0.051066	T	0.14657	0.0354	N	0.02011	-0.69	0.09310	N	0.999996	B	0.02656	0.0	B	0.01281	0.0	T	0.10847	-1.0612	10	0.15499	T	0.54	.	15.7313	0.77807	0.0:0.7598:0.1025:0.1377	.	444	Q9Y4K1	AIM1_HUMAN	T	852;444	ENSP00000358062:M444T	ENSP00000285105:M852T	M	+	2	0	AIM1	107074331	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.641000	0.02007	-2.477000	0.00525	-1.054000	0.02325	ATG	.	.		0.517	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041669.1		
REV3L	5980	hgsc.bcm.edu	37	6	111711382	111711382	+	Splice_Site	SNP	A	A	G			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr6:111711382A>G	ENST00000358835.3	-	7	1118	c.664T>C	c.(664-666)Tct>Cct	p.S222P	REV3L_ENST00000368802.3_Splice_Site_p.S222P|REV3L_ENST00000435970.1_Splice_Site_p.S144P|REV3L_ENST00000368805.1_Splice_Site_p.S222P			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	222					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)		AATATTAAAGAGCTGCAATTA	0.318								DNA polymerases (catalytic subunits)																													p.S222P		Atlas-SNP	.											.	REV3L	386	.	0			c.T664C						.						84.0	82.0	83.0					6																	111711382		2203	4300	6503	SO:0001630	splice_region_variant	5980	exon6			TTAAAGAGCTGCA	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.663-1T>C	chr6.hg19:g.111711382A>G		134.0	0.0		104.0	6.0	NM_002912	O43214|Q5TC33	Missense_Mutation	SNP	ENST00000358835.3	hg19	CCDS5091.2	.	.	.	.	.	.	.	.	.	.	A	16.91	3.252267	0.59212	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970	T;T;T;T	0.01804	4.75;4.75;4.75;4.63	4.85	4.85	0.62838	Ribonuclease H-like (1);	1.343540	0.04556	N	0.390814	T	0.02267	0.0070	L	0.45581	1.43	0.43698	D	0.996156	P	0.46395	0.877	P	0.48524	0.58	T	0.48091	-0.9065	10	0.42905	T	0.14	-10.0183	14.7192	0.69294	1.0:0.0:0.0:0.0	.	222	O60673	DPOLZ_HUMAN	P	222;222;222;144	ENSP00000357792:S222P;ENSP00000357795:S222P;ENSP00000351697:S222P;ENSP00000402003:S144P	ENSP00000351697:S222P	S	-	1	0	REV3L	111818075	1.000000	0.71417	1.000000	0.80357	0.428000	0.31595	6.103000	0.71492	1.939000	0.56221	0.377000	0.23210	TCT	.	.		0.318	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	NM_002912	Missense_Mutation
VNN1	8876	hgsc.bcm.edu	37	6	133035128	133035128	+	Missense_Mutation	SNP	A	A	G			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr6:133035128A>G	ENST00000367928.4	-	1	60	c.47T>C	c.(46-48)gTc>gCc	p.V16A		NM_004666.2	NP_004657.2	O95497	VNN1_HUMAN	vanin 1	16					acute inflammatory response (GO:0002526)|cellular component movement (GO:0006928)|chronic inflammatory response (GO:0002544)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|pantothenate metabolic process (GO:0015939)|positive regulation of T cell differentiation in thymus (GO:0033089)|response to oxidative stress (GO:0006979)|single organismal cell-cell adhesion (GO:0016337)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	GPI anchor binding (GO:0034235)|pantetheine hydrolase activity (GO:0017159)			NS(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	31	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189)		GGCTCTTGAGACATAGAAAAG	0.473																																					p.V16A		Atlas-SNP	.											.	VNN1	69	.	0			c.T47C						.						66.0	59.0	61.0					6																	133035128		2203	4300	6503	SO:0001583	missense	8876	exon1			CTTGAGACATAGA	AJ132099	CCDS5159.1	6q23-q24	2013-02-13			ENSG00000112299	ENSG00000112299	3.5.1.92	"""Vanins"""	12705	protein-coding gene	gene with protein product		603570				9790769	Standard	NM_004666		Approved	Tiff66	uc003qdo.3	O95497	OTTHUMG00000015587	ENST00000367928.4:c.47T>C	chr6.hg19:g.133035128A>G	ENSP00000356905:p.Val16Ala	80.0	0.0		48.0	4.0	NM_004666	A8K310|Q4JFW6|Q4VAS7|Q4VAS8|Q4VAS9|Q9UF16|Q9UJF4	Missense_Mutation	SNP	ENST00000367928.4	hg19	CCDS5159.1	.	.	.	.	.	.	.	.	.	.	A	3.015	-0.202955	0.06219	.	.	ENSG00000112299	ENST00000367928	D	0.87809	-2.3	5.38	2.67	0.31697	Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase (1);	0.481828	0.20504	N	0.091031	T	0.56077	0.1961	L	0.35414	1.06	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.43814	-0.9368	10	0.09338	T	0.73	-12.464	4.7387	0.13001	0.6418:0.166:0.1922:0.0	.	16	O95497	VNN1_HUMAN	A	16	ENSP00000356905:V16A	ENSP00000356905:V16A	V	-	2	0	VNN1	133076821	0.001000	0.12720	0.004000	0.12327	0.006000	0.05464	0.605000	0.24179	0.898000	0.36418	0.454000	0.30748	GTC	.	.		0.473	VNN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042263.1		
BCLAF1	9774	hgsc.bcm.edu	37	6	136599813	136599813	+	Missense_Mutation	SNP	C	C	A			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr6:136599813C>A	ENST00000531224.1	-	4	458	c.206G>T	c.(205-207)cGa>cTa	p.R69L	BCLAF1_ENST00000527759.1_Missense_Mutation_p.R67L|BCLAF1_ENST00000353331.4_Missense_Mutation_p.R67L|BCLAF1_ENST00000527536.1_Missense_Mutation_p.R69L|BCLAF1_ENST00000392348.2_Missense_Mutation_p.R67L|BCLAF1_ENST00000530767.1_Missense_Mutation_p.R69L	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	69					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		CCCATAAGGTCGTCTCATTCC	0.433																																					p.R69L	Colon(142;1534 1789 5427 7063 28491)	Atlas-SNP	.											BCLAF1_ENST00000531224,colon,carcinoma,0,1	BCLAF1	203	.	0			c.G206T						.						85.0	82.0	83.0					6																	136599813		2203	4300	6503	SO:0001583	missense	9774	exon4			TAAGGTCGTCTCA	AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.206G>T	chr6.hg19:g.136599813C>A	ENSP00000435210:p.Arg69Leu	149.0	0.0		106.0	25.0	NM_014739	A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Missense_Mutation	SNP	ENST00000531224.1	hg19	CCDS5177.1	.	.	.	.	.	.	.	.	.	.	C	16.29	3.082433	0.55861	.	.	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000530767;ENST00000527759;ENST00000392348;ENST00000529826	T;T;T;T;T;T;T	0.55588	0.87;0.62;0.67;0.51;0.81;0.62;0.54	5.64	4.78	0.61160	.	0.000000	0.52532	D	0.000064	T	0.39835	0.1093	M	0.64997	1.995	0.80722	D	1	P;B;P;P	0.38455	0.491;0.275;0.491;0.632	B;B;B;B	0.37833	0.204;0.134;0.204;0.259	T	0.50363	-0.8837	10	0.87932	D	0	-4.5909	14.4744	0.67537	0.0:0.9293:0.0:0.0707	.	67;67;69;69	Q9NYF8-2;Q9NYF8-3;Q9NYF8;Q9NYF8-4	.;.;BCLF1_HUMAN;.	L	69;67;69;69;67;67;69	ENSP00000435210:R69L;ENSP00000229446:R67L;ENSP00000435441:R69L;ENSP00000436501:R69L;ENSP00000434826:R67L;ENSP00000376159:R67L;ENSP00000431734:R69L	ENSP00000229446:R67L	R	-	2	0	BCLAF1	136641506	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.655000	0.67981	1.392000	0.46585	0.557000	0.71058	CGA	.	.		0.433	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739	
C6orf211	79624	hgsc.bcm.edu	37	6	151775692	151775692	+	Silent	SNP	A	A	G			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr6:151775692A>G	ENST00000367294.3	+	2	310	c.51A>G	c.(49-51)gcA>gcG	p.A17A	C6orf211_ENST00000483931.1_3'UTR|RMND1_ENST00000367303.4_5'Flank|C6orf211_ENST00000545879.1_Intron	NM_024573.1	NP_078849.1	Q9H993	CF211_HUMAN	chromosome 6 open reading frame 211	17										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)		GATCATTTGCATATCTTACAA	0.318																																					p.A17A		Atlas-SNP	.											C6orf211,NS,carcinoma,0,1	C6orf211	30	.	0			c.A51G						.						98.0	97.0	97.0					6																	151775692		2203	4289	6492	SO:0001819	synonymous_variant	79624	exon2			ATTTGCATATCTT	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.51A>G	chr6.hg19:g.151775692A>G		100.0	0.0		85.0	4.0	NM_024573	Q96FC6|Q9UFY5	Silent	SNP	ENST00000367294.3	hg19	CCDS5233.1																																																																																			.	.		0.318	C6orf211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042724.1	NM_024573	
CCDC170	80129	hgsc.bcm.edu	37	6	151917535	151917535	+	Missense_Mutation	SNP	A	A	G	rs549058340		TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr6:151917535A>G	ENST00000239374.7	+	9	1632	c.1533A>G	c.(1531-1533)atA>atG	p.I511M	CCDC170_ENST00000367290.5_Missense_Mutation_p.I511M	NM_025059.3	NP_079335.2	Q8IYT3	CC170_HUMAN	coiled-coil domain containing 170	511																	GGCAGAAAATAGCCCAGCTGG	0.493																																					p.I511M		Atlas-SNP	.											.	.	.	.	0			c.A1533G						.						53.0	59.0	57.0					6																	151917535		2113	4253	6366	SO:0001583	missense	80129	exon9			GAAAATAGCCCAG	AK026958	CCDS43515.1	6q25.1	2012-03-26	2012-03-26	2012-03-26	ENSG00000120262	ENSG00000120262			21177	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 97"""	C6orf97			Standard	NM_025059		Approved	FLJ23305, bA282P11.1	uc003qol.3	Q8IYT3	OTTHUMG00000015839	ENST00000239374.7:c.1533A>G	chr6.hg19:g.151917535A>G	ENSP00000239374:p.Ile511Met	80.0	0.0		51.0	4.0	NM_025059	Q5VXB7|Q6P9E4|Q96KA9|Q9H5M3	Missense_Mutation	SNP	ENST00000239374.7	hg19	CCDS43515.1	.	.	.	.	.	.	.	.	.	.	A	13.54	2.267457	0.40095	.	.	ENSG00000120262	ENST00000239374;ENST00000367290	T;T	0.09445	2.98;2.98	5.63	-7.73	0.01245	.	0.275715	0.35772	N	0.002990	T	0.04407	0.0121	M	0.76574	2.34	0.24200	N	0.995517	P	0.42692	0.787	B	0.42522	0.39	T	0.01185	-1.1425	10	0.48119	T	0.1	-7.639	8.7763	0.34765	0.1923:0.2769:0.0:0.5308	.	511	Q8IYT3	CF097_HUMAN	M	511	ENSP00000239374:I511M;ENSP00000356259:I511M	ENSP00000239374:I511M	I	+	3	3	C6orf97	151959228	0.000000	0.05858	0.144000	0.22314	0.955000	0.61496	-0.645000	0.05409	-1.709000	0.01399	-0.291000	0.09656	ATA	.	.		0.493	CCDC170-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042727.2	NM_025059	
PLG	5340	hgsc.bcm.edu	37	6	161158038	161158038	+	Splice_Site	SNP	A	A	C			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr6:161158038A>C	ENST00000308192.9	+	14	1864	c.1801A>C	c.(1801-1803)Agg>Cgg	p.R601R		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	601	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of fibrinolysis (GO:0051918)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of fibrinolysis (GO:0051919)|tissue remodeling (GO:0048771)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	apolipoprotein binding (GO:0034185)|protein domain specific binding (GO:0019904)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Aprotinin(DB06692)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	TCTTAGAACAAGGTAAGAACA	0.512																																					p.R601R		Atlas-SNP	.											.	PLG	150	.	0			c.A1801C						.						68.0	66.0	66.0					6																	161158038		2203	4300	6503	SO:0001630	splice_region_variant	5340	exon14			AGAACAAGGTAAG	M74220	CCDS5279.1, CCDS55074.1	6q26	2012-10-02			ENSG00000122194	ENSG00000122194			9071	protein-coding gene	gene with protein product		173350					Standard	NM_000301		Approved		uc003qtm.4	P00747	OTTHUMG00000015957	ENST00000308192.9:c.1802+1A>C	chr6.hg19:g.161158038A>C		89.0	0.0		60.0	45.0	NM_000301	Q15146|Q5TEH4|Q6PA00	Silent	SNP	ENST00000308192.9	hg19	CCDS5279.1																																																																																			.	.		0.512	PLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042959.2	NM_000301	Silent
GPNMB	10457	hgsc.bcm.edu	37	7	23313776	23313776	+	Missense_Mutation	SNP	T	T	C			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr7:23313776T>C	ENST00000381990.2	+	11	1813	c.1652T>C	c.(1651-1653)gTg>gCg	p.V551A	GPNMB_ENST00000539136.1_Missense_Mutation_p.V440A|GPNMB_ENST00000258733.4_Missense_Mutation_p.V539A|GPNMB_ENST00000478451.1_3'UTR|GPNMB_ENST00000453162.2_Missense_Mutation_p.V493A	NM_001005340.1|NM_002510.2	NP_001005340.1|NP_002501.1	Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb	551					bone mineralization (GO:0030282)|cell adhesion (GO:0007155)|negative regulation of cell proliferation (GO:0008285)|osteoblast differentiation (GO:0001649)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41			GBM - Glioblastoma multiforme(13;0.154)			GCAAAAGCCGTGTTCTTCCCG	0.418																																					p.V551A		Atlas-SNP	.											.	GPNMB	88	.	0			c.T1652C						.						90.0	92.0	91.0					7																	23313776		2203	4300	6503	SO:0001583	missense	10457	exon11			AAGCCGTGTTCTT	X76534	CCDS5380.1, CCDS34610.1	7p	2008-07-18			ENSG00000136235	ENSG00000136235			4462	protein-coding gene	gene with protein product	"""transmembrane glycoprotein"", ""glycoprotein NMB"", ""glycoprotein nmb-like protein"", ""osteoactivin"""	604368				7814155	Standard	NM_002510		Approved	NMB, HGFIN	uc003swc.3	Q14956	OTTHUMG00000022811	ENST00000381990.2:c.1652T>C	chr7.hg19:g.23313776T>C	ENSP00000371420:p.Val551Ala	98.0	0.0		117.0	5.0	NM_001005340	A4D155|Q6UVX1|Q8N1A1	Missense_Mutation	SNP	ENST00000381990.2	hg19	CCDS34610.1	.	.	.	.	.	.	.	.	.	.	T	6.390	0.440007	0.12104	.	.	ENSG00000136235	ENST00000258733;ENST00000435486;ENST00000381990;ENST00000425903;ENST00000539136;ENST00000453162	T;T;T;T	0.14391	2.51;2.54;2.51;2.55	6.07	-6.49	0.01890	.	1.456020	0.04090	N	0.311192	T	0.08088	0.0202	L	0.38175	1.15	0.09310	N	1	B;B;B;B	0.10296	0.002;0.003;0.001;0.001	B;B;B;B	0.11329	0.005;0.006;0.002;0.001	T	0.33879	-0.9851	10	0.13108	T	0.6	0.7629	2.908	0.05727	0.094:0.325:0.1921:0.3888	.	440;493;551;539	F6SKP1;F5GY20;Q14956;Q14956-2	.;.;GPNMB_HUMAN;.	A	539;586;551;434;440;493	ENSP00000258733:V539A;ENSP00000371420:V551A;ENSP00000445266:V440A;ENSP00000405586:V493A	ENSP00000258733:V539A	V	+	2	0	GPNMB	23280301	0.000000	0.05858	0.000000	0.03702	0.067000	0.16453	0.086000	0.14935	-1.241000	0.02526	0.533000	0.62120	GTG	.	.		0.418	GPNMB-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327152.1	NM_001005340	
UPP1	7378	hgsc.bcm.edu	37	7	48147063	48147063	+	Missense_Mutation	SNP	C	C	T			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr7:48147063C>T	ENST00000331803.4	+	9	1375	c.752C>T	c.(751-753)tCc>tTc	p.S251F	UPP1_ENST00000429491.2_Missense_Mutation_p.S114F|UPP1_ENST00000482015.1_3'UTR|UPP1_ENST00000395564.4_Missense_Mutation_p.S251F|UPP1_ENST00000341253.4_Missense_Mutation_p.S251F			Q16831	UPP1_HUMAN	uridine phosphorylase 1	251					cellular response to glucose starvation (GO:0042149)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide catabolic process (GO:0009166)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|pyrimidine nucleoside salvage (GO:0043097)|small molecule metabolic process (GO:0044281)|UMP salvage (GO:0044206)|uridine metabolic process (GO:0046108)	cytosol (GO:0005829)	uridine phosphorylase activity (GO:0004850)			breast(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	18					Fluorouracil(DB00544)	GAGATGGAGTCCTCGGTGTTT	0.632																																					p.S251F		Atlas-SNP	.											.	UPP1	35	.	0			c.C752T						.						73.0	67.0	69.0					7																	48147063		2203	4300	6503	SO:0001583	missense	7378	exon8			TGGAGTCCTCGGT	AK096167	CCDS5507.1	7p12.3	2012-10-02	2003-08-28	2003-08-29	ENSG00000183696	ENSG00000183696	2.4.2.3		12576	protein-coding gene	gene with protein product		191730	"""uridine phosphorylase"""	UP		752472, 11807789	Standard	NM_003364		Approved	UPASE, UPP, UDRPASE	uc003toj.3	Q16831	OTTHUMG00000129253	ENST00000331803.4:c.752C>T	chr7.hg19:g.48147063C>T	ENSP00000330032:p.Ser251Phe	102.0	0.0		143.0	31.0	NM_003364	D3DVM4|Q15362	Missense_Mutation	SNP	ENST00000331803.4	hg19	CCDS5507.1	.	.	.	.	.	.	.	.	.	.	C	19.32	3.804604	0.70682	.	.	ENSG00000183696	ENST00000331803;ENST00000341253;ENST00000395564;ENST00000429491	D;D;D;D	0.88586	-2.4;-2.4;-2.4;-2.4	5.59	5.59	0.84812	Nucleoside phosphorylase domain (1);	0.052450	0.85682	D	0.000000	D	0.95953	0.8682	M	0.92219	3.285	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.79784	0.993;0.989	D	0.96640	0.9473	10	0.87932	D	0	-24.6892	18.5698	0.91130	0.0:1.0:0.0:0.0	.	114;251	Q86Y75;Q16831	.;UPP1_HUMAN	F	251;251;251;114	ENSP00000330032:S251F;ENSP00000342878:S251F;ENSP00000378931:S251F;ENSP00000406224:S114F	ENSP00000330032:S251F	S	+	2	0	UPP1	48113588	1.000000	0.71417	0.437000	0.26809	0.114000	0.19823	7.462000	0.80851	2.608000	0.88229	0.650000	0.86243	TCC	.	.		0.632	UPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251360.1	NM_003364	
ABCA13	154664	hgsc.bcm.edu	37	7	48317894	48317894	+	Missense_Mutation	SNP	C	C	A			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr7:48317894C>A	ENST00000435803.1	+	18	7127	c.7103C>A	c.(7102-7104)gCc>gAc	p.A2368D		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2368					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TTATTTAATGCCCTTCTCAGG	0.308																																					p.A2368D		Atlas-SNP	.											.	ABCA13	1192	.	0			c.C7103A						.						40.0	40.0	40.0					7																	48317894		1803	4069	5872	SO:0001583	missense	154664	exon18			TTAATGCCCTTCT	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.7103C>A	chr7.hg19:g.48317894C>A	ENSP00000411096:p.Ala2368Asp	86.0	0.0		70.0	29.0	NM_152701	K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	hg19	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	C	10.76	1.440374	0.25900	.	.	ENSG00000179869	ENST00000435803	T	0.55760	0.5	4.75	1.32	0.21799	.	1.533400	0.04221	N	0.333578	T	0.44095	0.1277	L	0.44542	1.39	0.09310	N	1	B	0.20052	0.041	B	0.19391	0.025	T	0.39840	-0.9594	10	0.72032	D	0.01	.	2.659	0.05020	0.2212:0.501:0.0:0.2778	.	2368	Q86UQ4	ABCAD_HUMAN	D	2368	ENSP00000411096:A2368D	ENSP00000411096:A2368D	A	+	2	0	ABCA13	48288440	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.498000	0.06420	0.517000	0.28361	0.561000	0.74099	GCC	.	.		0.308	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701	
COBL	23242	hgsc.bcm.edu	37	7	51097117	51097117	+	Missense_Mutation	SNP	T	T	C	rs376884962		TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr7:51097117T>C	ENST00000265136.7	-	10	1841	c.1676A>G	c.(1675-1677)aAt>aGt	p.N559S	COBL_ENST00000395542.2_Missense_Mutation_p.N641S	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	559					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)					GTTGTTTCTATTGGAAAACAA	0.527																																					p.N559S	NSCLC(189;2119 2138 12223 30818 34679)	Atlas-SNP	.											.	COBL	167	.	0			c.A1676G						.	T	SER/ASN	0,4406		0,0,2203	71.0	64.0	66.0		1676	4.7	0.1	7		66	1,8599	1.2+/-3.3	0,1,4299	no	missense	COBL	NM_015198.3	46	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	benign	559/1262	51097117	1,13005	2203	4300	6503	SO:0001583	missense	23242	exon10			TTTCTATTGGAAA	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.1676A>G	chr7.hg19:g.51097117T>C	ENSP00000265136:p.Asn559Ser	102.0	0.0		142.0	30.0	NM_015198	A4D257|A7E2B0|B7ZLW9|B9EGF8|Q2T9J3|Q504Y4|Q86XA7|Q8N304|Q8TCM1	Missense_Mutation	SNP	ENST00000265136.7	hg19	CCDS34637.1	.	.	.	.	.	.	.	.	.	.	T	8.495	0.863008	0.17178	0.0	1.16E-4	ENSG00000106078	ENST00000265136;ENST00000445054;ENST00000431948;ENST00000395542;ENST00000457306	T;T;T;T	0.26660	1.72;1.72;1.72;1.72	5.82	4.68	0.58851	.	0.136517	0.33875	N	0.004466	T	0.24084	0.0583	L	0.36672	1.1	0.20074	N	0.999933	P;P;B;B;P	0.49358	0.923;0.923;0.18;0.312;0.791	P;B;B;B;B	0.47470	0.548;0.397;0.054;0.067;0.181	T	0.06752	-1.0809	10	0.29301	T	0.29	.	9.0662	0.36465	0.0:0.0838:0.0:0.9162	.	559;616;559;641;101	O75128-3;O75128-7;O75128;O75128-2;O75128-6	.;.;COBL_HUMAN;.;.	S	559;451;444;641;57	ENSP00000265136:N559S;ENSP00000401204:N451S;ENSP00000413498:N444S;ENSP00000378912:N641S	ENSP00000265136:N559S	N	-	2	0	COBL	51064611	0.997000	0.39634	0.126000	0.21872	0.051000	0.14879	3.135000	0.50546	1.043000	0.40175	0.528000	0.53228	AAT	.	.		0.527	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000342682.1	NM_015198	
PCLO	27445	hgsc.bcm.edu	37	7	82581498	82581498	+	Missense_Mutation	SNP	A	A	T			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr7:82581498A>T	ENST00000333891.9	-	5	9108	c.8771T>A	c.(8770-8772)aTa>aAa	p.I2924K	PCLO_ENST00000437081.1_5'Flank|PCLO_ENST00000423517.2_Missense_Mutation_p.I2924K	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						TTCATCTTCTATTATTTTGGT	0.433																																					p.I2924K		Atlas-SNP	.											Q9Y6V0-3,colon,carcinoma,-1,3	PCLO	1506	.	0			c.T8771A						.						145.0	142.0	143.0					7																	82581498		1909	4123	6032	SO:0001583	missense	27445	exon5			TCTTCTATTATTT	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.8771T>A	chr7.hg19:g.82581498A>T	ENSP00000334319:p.Ile2924Lys	44.0	0.0		69.0	4.0	NM_014510		Missense_Mutation	SNP	ENST00000333891.9	hg19	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	A	12.71	2.018568	0.35606	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.19394	2.15;2.16	5.68	5.68	0.88126	.	.	.	.	.	T	0.30696	0.0773	L	0.50333	1.59	0.80722	D	1	P;P	0.46220	0.874;0.874	P;P	0.48227	0.447;0.571	T	0.02758	-1.1114	9	0.87932	D	0	.	15.9242	0.79603	1.0:0.0:0.0:0.0	.	2924;2924	Q9Y6V0-5;Q9Y6V0-6	.;.	K	2855;2924;2924	ENSP00000334319:I2924K;ENSP00000388393:I2924K	ENSP00000334319:I2924K	I	-	2	0	PCLO	82419434	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	6.606000	0.74159	2.152000	0.67230	0.460000	0.39030	ATA	.	.		0.433	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510	
CCDC132	55610	hgsc.bcm.edu	37	7	92888896	92888896	+	Missense_Mutation	SNP	T	T	C			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr7:92888896T>C	ENST00000305866.5	+	9	739	c.611T>C	c.(610-612)cTt>cCt	p.L204P	CCDC132_ENST00000251739.5_Missense_Mutation_p.L204P|CCDC132_ENST00000541136.1_Missense_Mutation_p.L15P|CCDC132_ENST00000535481.1_Intron|CCDC132_ENST00000317751.6_5'UTR|CCDC132_ENST00000544910.1_Missense_Mutation_p.L174P	NM_017667.3	NP_060137.2	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	204						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			CAGTTGTGCCTTGAATGTCAA	0.348																																					p.L204P		Atlas-SNP	.											.	CCDC132	136	.	0			c.T611C						.						88.0	88.0	88.0					7																	92888896		2203	4300	6503	SO:0001583	missense	55610	exon9			TGTGCCTTGAATG	AL833112, AK055965, AL832393	CCDS5630.1, CCDS43617.1, CCDS59065.1	7q21.3	2007-07-23			ENSG00000004766	ENSG00000004766			25956	protein-coding gene	gene with protein product						11347906	Standard	NM_024553		Approved	KIAA1861, FLJ20097, DKFZp313I2429	uc003umo.4	Q96JG6	OTTHUMG00000131733	ENST00000305866.5:c.611T>C	chr7.hg19:g.92888896T>C	ENSP00000307666:p.Leu204Pro	56.0	0.0		65.0	4.0	NM_024553	B3KX22|D1MQ00|F5H5U7|Q75N07|Q8WVK3|Q9H5C6	Missense_Mutation	SNP	ENST00000305866.5	hg19	CCDS43617.1	.	.	.	.	.	.	.	.	.	.	T	25.1	4.602384	0.87157	.	.	ENSG00000004766	ENST00000251739;ENST00000305866;ENST00000544910;ENST00000541136	T	0.31769	1.48	5.25	5.25	0.73442	Vacuolar protein sorting-associated protein 54 (1);	0.000000	0.85682	D	0.000000	T	0.53932	0.1827	M	0.74881	2.28	0.80722	D	1	D;D;D	0.71674	0.986;0.998;0.992	P;D;P	0.70016	0.862;0.967;0.898	T	0.52109	-0.8619	10	0.30078	T	0.28	-2.7577	15.4567	0.75321	0.0:0.0:0.0:1.0	.	174;204;204	F5H5U7;Q96JG6;Q96JG6-2	.;CC132_HUMAN;.	P	204;204;174;15	ENSP00000251739:L204P	ENSP00000251739:L204P	L	+	2	0	CCDC132	92726832	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.040000	0.89188	2.109000	0.64355	0.533000	0.62120	CTT	.	.		0.348	CCDC132-019	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341687.1	NM_017667	
CASD1	64921	hgsc.bcm.edu	37	7	94167114	94167114	+	Missense_Mutation	SNP	A	A	G			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr7:94167114A>G	ENST00000297273.4	+	9	1461	c.1174A>G	c.(1174-1176)Aag>Gag	p.K392E		NM_022900.4	NP_075051.4	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1	392						integral component of membrane (GO:0016021)				NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			TCTGTTCATGAAGGAAAACAA	0.308																																					p.K392E		Atlas-SNP	.											.	CASD1	70	.	0			c.A1174G						.						85.0	95.0	91.0					7																	94167114		2202	4300	6502	SO:0001583	missense	64921	exon9			TTCATGAAGGAAA	AF355594	CCDS5636.1	7q22	2006-03-09			ENSG00000127995	ENSG00000127995			16014	protein-coding gene	gene with protein product	"""chromosome 7 open reading frame 12"""	611686				11703667, 11528394	Standard	NM_022900		Approved	FLJ21213, FLJ21879, C7orf12	uc003uni.4	Q96PB1	OTTHUMG00000023356	ENST00000297273.4:c.1174A>G	chr7.hg19:g.94167114A>G	ENSP00000297273:p.Lys392Glu	68.0	0.0		76.0	4.0	NM_022900	B3KW13|O14574|Q3LIE2|Q6P4R4|Q9H6T9|Q9H770	Missense_Mutation	SNP	ENST00000297273.4	hg19	CCDS5636.1	.	.	.	.	.	.	.	.	.	.	A	26.0	4.692976	0.88735	.	.	ENSG00000127995	ENST00000297273	T	0.61742	0.08	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.72374	0.3452	L	0.54323	1.7	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.996	T	0.75150	-0.3419	10	0.87932	D	0	.	15.9173	0.79531	1.0:0.0:0.0:0.0	.	392;392	Q8WZ77;Q96PB1	.;CASD1_HUMAN	E	392	ENSP00000297273:K392E	ENSP00000297273:K392E	K	+	1	0	CASD1	94005050	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.093000	0.94163	2.226000	0.72624	0.477000	0.44152	AAG	.	.		0.308	CASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255216.1	NM_022900	
PTCD1	26024	hgsc.bcm.edu	37	7	99021532	99021532	+	Missense_Mutation	SNP	C	C	A			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr7:99021532C>A	ENST00000292478.4	-	7	2036	c.1786G>T	c.(1786-1788)Gcg>Tcg	p.A596S	PTCD1_ENST00000555673.1_Missense_Mutation_p.A645S|ATP5J2-PTCD1_ENST00000413834.1_Missense_Mutation_p.A645S	NM_015545.3	NP_056360.2	O75127	PTCD1_HUMAN	pentatricopeptide repeat domain 1	596					tRNA 3'-end processing (GO:0042780)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|tRNA binding (GO:0000049)			endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			CTGATGGCCGCGTTGATGAGG	0.532																																					p.A645S		Atlas-SNP	.											.	.	.	.	0			c.G1933T						.						172.0	130.0	145.0					7																	99021532		2203	4300	6503	SO:0001583	missense	100526740	exon8			TGGCCGCGTTGAT	AB014532	CCDS34691.1	7q22.1	2006-01-27				ENSG00000106246			22198	protein-coding gene	gene with protein product		614774					Standard	NM_015545		Approved	KIAA0632		O75127		ENST00000292478.4:c.1786G>T	chr7.hg19:g.99021532C>A	ENSP00000292478:p.Ala596Ser	216.0	0.0		304.0	132.0	NM_001198879	Q3ZB78|Q66K60|Q9UDV2	Missense_Mutation	SNP	ENST00000292478.4	hg19	CCDS34691.1	.	.	.	.	.	.	.	.	.	.	C	9.888	1.203380	0.22121	.	.	ENSG00000106246;ENSG00000106246;ENSG00000106246;ENSG00000248919	ENST00000292478;ENST00000438524;ENST00000555673;ENST00000413834	T;T;T	0.68025	-0.3;-0.3;-0.3	6.03	4.22	0.49857	.	0.224693	0.47093	D	0.000256	T	0.64994	0.2649	M	0.65975	2.015	0.24711	N	0.993205	P;P	0.47841	0.901;0.589	B;B	0.42495	0.389;0.094	T	0.61242	-0.7102	10	0.39692	T	0.17	-10.651	13.0953	0.59188	0.0:0.8692:0.0:0.1308	.	645;596	G3V325;O75127	.;PTCD1_HUMAN	S	596;378;645;645	ENSP00000292478:A596S;ENSP00000450995:A645S;ENSP00000400168:A645S	ENSP00000400168:A645S	A	-	1	0	ATP5J2-PTCD1;PTCD1	98859468	0.821000	0.29204	0.402000	0.26371	0.013000	0.08279	3.387000	0.52501	1.563000	0.49615	0.655000	0.94253	GCG	.	.		0.532	PTCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336391.1	NM_015545	
CNPY4	245812	hgsc.bcm.edu	37	7	99722198	99722198	+	Missense_Mutation	SNP	A	A	G	rs569434978		TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr7:99722198A>G	ENST00000262932.3	+	5	659	c.527A>G	c.(526-528)gAg>gGg	p.E176G	MBLAC1_ENST00000398075.2_5'Flank|RP11-506M12.1_ENST00000494221.1_RNA|CNPY4_ENST00000480692.1_3'UTR	NM_152755.1	NP_689968.1	Q8N129	CNPY4_HUMAN	canopy FGF signaling regulator 4	176	Glu-rich.					extracellular region (GO:0005576)				breast(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CACCATCAGGAGCAGCCCCTA	0.507													A|||	1	0.000199681	0.0	0.0	5008	,	,		19696	0.0		0.0	False		,,,				2504	0.001				p.E176G		Atlas-SNP	.											.	CNPY4	18	.	0			c.A527G						.						100.0	98.0	99.0					7																	99722198		2203	4300	6503	SO:0001583	missense	245812	exon5			ATCAGGAGCAGCC	AK075537	CCDS34701.1	7q22.1	2013-07-23	2013-07-23		ENSG00000166997	ENSG00000166997			28631	protein-coding gene	gene with protein product	"""protein associated with TLR4"""	610047	"""canopy 4 homolog (zebrafish)"""			12975309	Standard	NM_152755		Approved	MGC40499, PRAT4B	uc003uto.3	Q8N129	OTTHUMG00000154817	ENST00000262932.3:c.527A>G	chr7.hg19:g.99722198A>G	ENSP00000262932:p.Glu176Gly	99.0	0.0		99.0	5.0	NM_152755	Q8WUN9	Missense_Mutation	SNP	ENST00000262932.3	hg19	CCDS34701.1	.	.	.	.	.	.	.	.	.	.	A	16.82	3.229893	0.58777	.	.	ENSG00000166997	ENST00000262932	T	0.37752	1.18	5.94	4.8	0.61643	.	0.155039	0.56097	D	0.000024	T	0.23330	0.0564	N	0.21097	0.63	0.45056	D	0.99807	B	0.10296	0.003	B	0.16289	0.015	T	0.06409	-1.0828	10	0.44086	T	0.13	-17.9226	7.972	0.30132	0.9112:0.0:0.0888:0.0	.	176	Q8N129	CNPY4_HUMAN	G	176	ENSP00000262932:E176G	ENSP00000262932:E176G	E	+	2	0	CNPY4	99560134	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	5.600000	0.67599	2.279000	0.76181	0.459000	0.35465	GAG	.	.		0.507	CNPY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337224.4	NM_152755	
MUC17	140453	hgsc.bcm.edu	37	7	100684024	100684024	+	Silent	SNP	T	T	C			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr7:100684024T>C	ENST00000306151.4	+	3	9391	c.9327T>C	c.(9325-9327)ggT>ggC	p.G3109G		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3109	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CATTAACAGGTGTGCCTGTCA	0.502																																					p.G3109G		Atlas-SNP	.											.	MUC17	804	.	0			c.T9327C						.						278.0	281.0	280.0					7																	100684024		2203	4300	6503	SO:0001819	synonymous_variant	140453	exon3			AACAGGTGTGCCT	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.9327T>C	chr7.hg19:g.100684024T>C		77.0	0.0		87.0	4.0	NM_001040105	O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	hg19	CCDS34711.1																																																																																			.	.		0.502	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105	
LRRC17	10234	hgsc.bcm.edu	37	7	102575002	102575002	+	Missense_Mutation	SNP	A	A	T	rs3832497|rs77576273|rs531650613	byFrequency	TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr7:102575002A>T	ENST00000339431.4	+	2	937	c.642A>T	c.(640-642)gaA>gaT	p.E214D	FBXL13_ENST00000456695.1_Intron|FBXL13_ENST00000455112.2_Intron|FBXL13_ENST00000379308.3_Intron|FBXL13_ENST00000313221.4_Intron|FBXL13_ENST00000379306.3_Intron|FBXL13_ENST00000436908.1_Intron|FBXL13_ENST00000379305.3_Intron|FBXL13_ENST00000393772.2_Intron|LRRC17_ENST00000249377.4_Missense_Mutation_p.E214D	NM_001031692.2	NP_001026862.1	Q8N6Y2	LRC17_HUMAN	leucine rich repeat containing 17	214	LRRCT 1.			Missing (in Ref. 2; AAQ89248). {ECO:0000305}.	bone marrow development (GO:0048539)|negative regulation of osteoclast differentiation (GO:0045671)|ossification (GO:0001503)	extracellular space (GO:0005615)				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	17						TGTGTAATGAAGAAGAAAAGG	0.438																																					p.E214D		Atlas-SNP	.											.	LRRC17	45	.	0			c.A642T						.						19.0	11.0	14.0					7																	102575002		1944	3733	5677	SO:0001583	missense	10234	exon2			TAATGAAGAAGAA	U32907	CCDS5727.1, CCDS34721.1	7q22.1	2009-05-26			ENSG00000128606	ENSG00000128606			16895	protein-coding gene	gene with protein product						8982252, 19336404	Standard	NM_005824		Approved	P37NB, H_RG318M05.3	uc003vau.3	Q8N6Y2	OTTHUMG00000157210	ENST00000339431.4:c.642A>T	chr7.hg19:g.102575002A>T	ENSP00000344242:p.Glu214Asp	3.0	0.0		9.0	4.0	NM_005824	Q13288|Q6UWA7|Q75MG5	Missense_Mutation	SNP	ENST00000339431.4	hg19	CCDS34721.1	.	.	.	.	.	.	.	.	.	.	A	10.68	1.419589	0.25552	.	.	ENSG00000128606	ENST00000339431;ENST00000249377	T;T	0.62639	0.22;0.01	5.28	2.92	0.33932	.	0.000000	0.56097	D	0.000026	T	0.46190	0.1380	L	0.37850	1.14	0.37180	D	0.903456	B;B	0.18013	0.015;0.025	B;B	0.20184	0.012;0.028	T	0.36648	-0.9739	10	0.34782	T	0.22	-31.8822	4.9104	0.13820	0.7178:0.0:0.1465:0.1357	.	214;214	Q8N6Y2;Q8N6Y2-2	LRC17_HUMAN;.	D	214	ENSP00000344242:E214D;ENSP00000249377:E214D	ENSP00000249377:E214D	E	+	3	2	LRRC17	102362238	1.000000	0.71417	0.874000	0.34290	0.990000	0.78478	2.097000	0.41748	0.416000	0.25844	0.460000	0.39030	GAA	.	.		0.438	LRRC17-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347930.1	NM_005824	
ING3	54556	hgsc.bcm.edu	37	7	120607679	120607679	+	Missense_Mutation	SNP	A	A	G			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr7:120607679A>G	ENST00000315870.5	+	7	681	c.533A>G	c.(532-534)gAt>gGt	p.D178G	ING3_ENST00000431467.1_Missense_Mutation_p.D163G	NM_019071.2	NP_061944.2	Q9NXR8	ING3_HUMAN	inhibitor of growth family, member 3	178					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|positive regulation of apoptotic process (GO:0043065)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Piccolo NuA4 histone acetyltransferase complex (GO:0032777)|Swr1 complex (GO:0000812)	methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	12	all_neural(327;0.117)					CTTACGTCAGATGCCTCTAAG	0.323																																					p.D178G		Atlas-SNP	.											.	ING3	36	.	0			c.A533G						.						75.0	80.0	79.0					7																	120607679		2203	4294	6497	SO:0001583	missense	54556	exon7			CGTCAGATGCCTC	AF074968	CCDS5778.1, CCDS35497.1	7q31	2013-01-28			ENSG00000071243	ENSG00000071243		"""Zinc fingers, PHD-type"""	14587	protein-coding gene	gene with protein product		607493				12080476	Standard	NM_019071		Approved	p47ING3, FLJ20089, Eaf4, MEAF4	uc003vjn.3	Q9NXR8	OTTHUMG00000141270	ENST00000315870.5:c.533A>G	chr7.hg19:g.120607679A>G	ENSP00000320566:p.Asp178Gly	87.0	0.0		73.0	4.0	NM_019071	A8K790|O60394|Q567P3|Q6GMT3|Q7Z762|Q969G0|Q96DT4|Q9HC99|Q9P081	Missense_Mutation	SNP	ENST00000315870.5	hg19	CCDS5778.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.294899	0.81025	.	.	ENSG00000071243	ENST00000315870;ENST00000431467	D;D	0.95238	-3.63;-3.65	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.96327	0.8802	M	0.68317	2.08	0.80722	D	1	D;D	0.63880	0.993;0.993	D;D	0.74674	0.984;0.956	D	0.94999	0.8141	10	0.19147	T	0.46	-28.0763	16.0084	0.80380	1.0:0.0:0.0:0.0	.	178;178	Q5GRH6;Q9NXR8	.;ING3_HUMAN	G	178;163	ENSP00000320566:D178G;ENSP00000388506:D163G	ENSP00000320566:D178G	D	+	2	0	ING3	120394915	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	8.850000	0.92190	2.180000	0.69256	0.460000	0.39030	GAT	.	.		0.323	ING3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280453.2	NM_019071	
GPR37	2861	hgsc.bcm.edu	37	7	124387043	124387043	+	Missense_Mutation	SNP	T	T	C	rs553797830		TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr7:124387043T>C	ENST00000303921.2	-	2	2028	c.1378A>G	c.(1378-1380)Acc>Gcc	p.T460A		NM_005302.3	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	460					dopamine biosynthetic process (GO:0042416)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotion involved in locomotory behavior (GO:0031987)|positive regulation of dopamine metabolic process (GO:0045964)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ubiquitin ligase complex (GO:0000151)	G-protein coupled receptor activity (GO:0004930)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						AGAGAGCAGGTGATGGTGAAA	0.478																																					p.T460A		Atlas-SNP	.											.	GPR37	89	.	0			c.A1378G						.						135.0	119.0	125.0					7																	124387043		2203	4300	6503	SO:0001583	missense	2861	exon2			AGCAGGTGATGGT		CCDS5792.1	7q31	2012-08-21			ENSG00000170775	ENSG00000170775		"""GPCR / Class A : Orphans"""	4494	protein-coding gene	gene with protein product		602583				9339362	Standard	NM_005302		Approved	EDNRBL, hET(B)R-LP, PAELR	uc003vli.4	O15354	OTTHUMG00000157197	ENST00000303921.2:c.1378A>G	chr7.hg19:g.124387043T>C	ENSP00000306449:p.Thr460Ala	59.0	0.0		92.0	4.0	NM_005302	A4D0Y6|O00348|O14768|Q8TD39	Missense_Mutation	SNP	ENST00000303921.2	hg19	CCDS5792.1	.	.	.	.	.	.	.	.	.	.	T	12.05	1.822233	0.32237	.	.	ENSG00000170775	ENST00000303921	T	0.36699	1.24	5.73	5.73	0.89815	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000004	T	0.32675	0.0837	N	0.14661	0.345	0.38511	D	0.948465	B	0.28470	0.213	B	0.41174	0.349	T	0.36237	-0.9756	10	0.42905	T	0.14	-33.7917	15.205	0.73173	0.0:0.0:0.0:1.0	.	460	O15354	GPR37_HUMAN	A	460	ENSP00000306449:T460A	ENSP00000306449:T460A	T	-	1	0	GPR37	124174279	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.958000	0.40402	2.179000	0.69175	0.533000	0.62120	ACC	.	.		0.478	GPR37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347873.1	NM_005302	
CCDC136	64753	hgsc.bcm.edu	37	7	128445480	128445480	+	Missense_Mutation	SNP	A	A	G			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr7:128445480A>G	ENST00000297788.4	+	6	1217	c.850A>G	c.(850-852)Act>Gct	p.T284A	CCDC136_ENST00000378685.4_Missense_Mutation_p.T322A|CCDC136_ENST00000487361.1_Missense_Mutation_p.T284A|CCDC136_ENST00000464832.1_Missense_Mutation_p.T334A	NM_022742.4	NP_073579	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	284	Glu-rich.					integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						AGAGTCTCAGACTTCAGAAAT	0.488																																					p.T322A		Atlas-SNP	.											.	CCDC136	170	.	0			c.A964G						.						87.0	89.0	88.0					7																	128445480		1994	4183	6177	SO:0001583	missense	64753	exon7			TCTCAGACTTCAG		CCDS47704.1, CCDS56510.1	7q33	2007-08-01			ENSG00000128596	ENSG00000128596			22225	protein-coding gene	gene with protein product		611902				15112360	Standard	NM_022742		Approved	KIAA1793, NAG6, DKFZP434G156	uc003vnv.2	Q96JN2	OTTHUMG00000158310	ENST00000297788.4:c.850A>G	chr7.hg19:g.128445480A>G	ENSP00000297788:p.Thr284Ala	65.0	0.0		87.0	5.0	NM_001201372	A4D1K1|A7MCY7|A8MYA7|Q6ZVK7|Q9H8M3|Q9UFE1	Missense_Mutation	SNP	ENST00000297788.4	hg19	CCDS47704.1	.	.	.	.	.	.	.	.	.	.	A	17.54	3.414507	0.62511	.	.	ENSG00000128596	ENST00000378685;ENST00000464832;ENST00000487361;ENST00000297788;ENST00000397697;ENST00000320524	T;T;T;T	0.77750	0.91;0.9;-1.12;1.44	5.65	4.51	0.55191	.	0.483051	0.24282	N	0.039893	T	0.80628	0.4659	L	0.55834	1.745	0.40537	D	0.980982	P;D;D	0.71674	0.506;0.998;0.996	B;D;D	0.80764	0.319;0.994;0.987	T	0.76495	-0.2938	10	0.09843	T	0.71	-10.6722	7.5478	0.27777	0.9066:0.0:0.0934:0.0	.	284;284;322	C9JE17;Q96JN2;Q96JN2-3	.;CC136_HUMAN;.	A	322;334;284;284;284;284	ENSP00000367956:T322A;ENSP00000419515:T334A;ENSP00000420509:T284A;ENSP00000297788:T284A	ENSP00000297788:T284A	T	+	1	0	CCDC136	128232716	1.000000	0.71417	0.999000	0.59377	0.737000	0.42083	3.069000	0.50026	2.155000	0.67459	0.533000	0.62120	ACT	.	.		0.488	CCDC136-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350641.1	NM_022742	
DGKI	9162	hgsc.bcm.edu	37	7	137154364	137154364	+	Splice_Site	SNP	T	T	C			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr7:137154364T>C	ENST00000288490.5	-	25	2429	c.2429A>G	c.(2428-2430)gAc>gGc	p.D810G	DGKI_ENST00000424189.2_Splice_Site_p.D813G|DGKI_ENST00000446122.1_Splice_Site_p.D792G|DGKI_ENST00000453654.2_Splice_Site_p.D510G	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	810					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						GGTTTCATGGTCCTGGAAAGA	0.532																																					p.D810G		Atlas-SNP	.											.	DGKI	335	.	0			c.A2429G						.						121.0	107.0	112.0					7																	137154364		2203	4300	6503	SO:0001630	splice_region_variant	9162	exon25			TCATGGTCCTGGA	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.2428-1A>G	chr7.hg19:g.137154364T>C		57.0	0.0		91.0	4.0	NM_004717	A4D1Q9|Q9NZ49	Missense_Mutation	SNP	ENST00000288490.5	hg19	CCDS5845.1	.	.	.	.	.	.	.	.	.	.	T	23.8	4.459170	0.84317	.	.	ENSG00000157680	ENST00000453654;ENST00000540376;ENST00000424189;ENST00000288490;ENST00000446122	T;T;T	0.36520	1.81;1.25;1.56	5.84	5.84	0.93424	.	0.152963	0.56097	D	0.000021	T	0.42765	0.1217	L	0.54323	1.7	0.80722	D	1	P;P	0.51791	0.948;0.915	P;P	0.46975	0.533;0.468	T	0.32666	-0.9898	10	0.48119	T	0.1	.	16.2108	0.82158	0.0:0.0:0.0:1.0	.	510;810	E9PFX6;O75912	.;DGKI_HUMAN	G	510;758;813;810;792	ENSP00000392161:D510G;ENSP00000288490:D810G;ENSP00000399131:D792G	ENSP00000288490:D810G	D	-	2	0	DGKI	136804904	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.299000	0.65716	2.232000	0.73038	0.533000	0.62120	GAC	.	.		0.532	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341286.3	NM_004717	Missense_Mutation
SVOPL	136306	hgsc.bcm.edu	37	7	138329500	138329500	+	Missense_Mutation	SNP	A	A	G			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr7:138329500A>G	ENST00000419765.3	-	8	784	c.751T>C	c.(751-753)Tcg>Ccg	p.S251P	SVOPL_ENST00000436657.1_Missense_Mutation_p.S99P|SVOPL_ENST00000288513.5_Missense_Mutation_p.S99P|SVOPL_ENST00000421622.1_Missense_Mutation_p.S131P	NM_001139456.1	NP_001132928.1	Q8N434	SVOPL_HUMAN	SVOP-like	251						integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						GGCATGACCGAGCGGTTCATC	0.607																																					p.S251P		Atlas-SNP	.											.	SVOPL	111	.	0			c.T751C						.						55.0	55.0	55.0					7																	138329500		2203	4300	6503	SO:0001583	missense	136306	exon8			TGACCGAGCGGTT	BC036796	CCDS5848.1, CCDS47721.1	7q34	2011-07-12	2007-04-04		ENSG00000157703	ENSG00000157703			27034	protein-coding gene	gene with protein product		611700	"""SV2 related protein homolog (rat)-like"""				Standard	NM_001139456		Approved	MGC46715	uc011kqh.2	Q8N434	OTTHUMG00000155870	ENST00000419765.3:c.751T>C	chr7.hg19:g.138329500A>G	ENSP00000405482:p.Ser251Pro	59.0	0.0		85.0	4.0	NM_001139456		Missense_Mutation	SNP	ENST00000419765.3	hg19	CCDS47721.1	.	.	.	.	.	.	.	.	.	.	A	12.51	1.959389	0.34565	.	.	ENSG00000157703	ENST00000288513;ENST00000421622;ENST00000436657;ENST00000419765	T;T;T;T	0.74842	-0.88;-0.88;-0.88;-0.81	5.06	2.63	0.31362	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.381515	0.26560	N	0.023697	T	0.70482	0.3229	L	0.39397	1.21	0.38783	D	0.954818	P;P	0.48911	0.917;0.874	P;P	0.49226	0.603;0.491	T	0.67726	-0.5596	10	0.33141	T	0.24	-8.0477	12.3898	0.55352	0.598:0.402:0.0:0.0	.	251;99	Q8N434;Q8N434-2	SVOPL_HUMAN;.	P	99;131;99;251	ENSP00000288513:S99P;ENSP00000412830:S131P;ENSP00000417018:S99P;ENSP00000405482:S251P	ENSP00000288513:S99P	S	-	1	0	SVOPL	137980040	0.991000	0.36638	0.921000	0.36526	0.120000	0.20174	1.299000	0.33424	0.251000	0.21505	-1.485000	0.00982	TCG	.	.		0.607	SVOPL-005	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342092.4	NM_174959	
UBN2	254048	hgsc.bcm.edu	37	7	138954250	138954250	+	Missense_Mutation	SNP	A	A	G			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr7:138954250A>G	ENST00000473989.3	+	8	1577	c.1577A>G	c.(1576-1578)aAg>aGg	p.K526R	UBN2_ENST00000288561.8_Missense_Mutation_p.K443R	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	526						extracellular space (GO:0005615)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						CGTCTGAAGAAGTTACATCTC	0.413																																					p.K526R		Atlas-SNP	.											.	UBN2	90	.	0			c.A1577G						.						101.0	90.0	94.0					7																	138954250		1857	4122	5979	SO:0001583	missense	254048	exon8			TGAAGAAGTTACA	AK098644	CCDS43655.1, CCDS43655.2	7q34	2008-12-08			ENSG00000157741	ENSG00000157741			21931	protein-coding gene	gene with protein product		613841				19029251	Standard	NM_173569		Approved	FLJ25778, KIAA2030	uc011kqr.2	Q6ZU65	OTTHUMG00000157623	ENST00000473989.3:c.1577A>G	chr7.hg19:g.138954250A>G	ENSP00000418648:p.Lys526Arg	52.0	0.0		80.0	4.0	NM_173569	A4D1S2|Q2YDY4|Q6P1K0|Q86XN9|Q8N7D1	Missense_Mutation	SNP	ENST00000473989.3	hg19	CCDS43655.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	26.7|26.7	4.765426|4.765426	0.90020|0.90020	.|.	.|.	ENSG00000157741|ENSG00000157741	ENST00000473989;ENST00000288561|ENST00000483726	T;T|.	0.52057|.	0.68;0.68|.	5.58|5.58	5.58|5.58	0.84498|0.84498	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.70448|0.70448	0.3225|0.3225	L|L	0.56769|0.56769	1.78|1.78	0.58432|0.58432	D|D	0.999999|0.999999	D|.	0.76494|.	0.999|.	D|.	0.81914|.	0.995|.	T|T	0.68949|0.68949	-0.5274|-0.5274	10|5	0.42905|.	T|.	0.14|.	-11.3517|-11.3517	15.7561|15.7561	0.78025|0.78025	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	526|.	Q6ZU65|.	UBN2_HUMAN|.	R|G	526;443|295	ENSP00000418648:K526R;ENSP00000288561:K443R|.	ENSP00000288561:K443R|.	K|S	+|+	2|1	0|0	UBN2|UBN2	138604790|138604790	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.985000|0.985000	0.73830|0.73830	9.307000|9.307000	0.96226|0.96226	2.129000|2.129000	0.65627|0.65627	0.528000|0.528000	0.53228|0.53228	AAG|AGT	.	.		0.413	UBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349272.3	NM_173569	
ZNF786	136051	hgsc.bcm.edu	37	7	148768069	148768069	+	Missense_Mutation	SNP	T	T	C			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr7:148768069T>C	ENST00000491431.1	-	4	1859	c.1795A>G	c.(1795-1797)Aac>Gac	p.N599D	ZNF786_ENST00000316286.9_Missense_Mutation_p.N513D|ZNF786_ENST00000451334.3_Missense_Mutation_p.N562D	NM_152411.3	NP_689624.2	Q8N393	ZN786_HUMAN	zinc finger protein 786	599					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)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			AAGCTCCTGTTGCACTCTGGG	0.642																																					p.N599D		Atlas-SNP	.											.	ZNF786	69	.	0			c.A1795G						.						30.0	33.0	32.0					7																	148768069		2192	4291	6483	SO:0001583	missense	136051	exon4			TCCTGTTGCACTC	AK095701, AL834510	CCDS47738.1	7q36.1	2013-01-08			ENSG00000197362	ENSG00000197362		"""Zinc fingers, C2H2-type"", ""-"""	21806	protein-coding gene	gene with protein product							Standard	NM_152411		Approved	DKFZp762I137	uc003wfh.2	Q8N393	OTTHUMG00000158975	ENST00000491431.1:c.1795A>G	chr7.hg19:g.148768069T>C	ENSP00000417470:p.Asn599Asp	86.0	0.0		99.0	4.0	NM_152411	A1A568|B4DMI1	Missense_Mutation	SNP	ENST00000491431.1	hg19	CCDS47738.1	.	.	.	.	.	.	.	.	.	.	T	0.003	-2.432512	0.00184	.	.	ENSG00000197362	ENST00000316286;ENST00000491431;ENST00000451334	T;T;T	0.14266	2.52;2.52;2.52	4.71	-0.323	0.12709	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	1.056690	0.07499	N	0.906948	T	0.06781	0.0173	N	0.03253	-0.375	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.40308	-0.9570	10	0.62326	D	0.03	-10.5891	9.4207	0.38550	0.0:0.6495:0.0:0.3505	.	599	Q8N393	ZN786_HUMAN	D	513;599;562	ENSP00000313516:N513D;ENSP00000417470:N599D;ENSP00000404984:N562D	ENSP00000313516:N513D	N	-	1	0	ZNF786	148399002	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	-0.068000	0.11561	-0.231000	0.09825	-1.054000	0.02325	AAC	.	.		0.642	ZNF786-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352751.1	NM_152411	
SSPO	23145	hgsc.bcm.edu	37	7	149523267	149523267	+	RNA	SNP	A	A	G	rs569525128		TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr7:149523267A>G	ENST00000378016.2	+	0	14353							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TGGGGGCACTATGGAGCGACA	0.652													A|||	1	0.000199681	0.0	0.0	5008	,	,		19496	0.0		0.001	False		,,,				2504	0.0				p.M4784V		Atlas-SNP	.											NM_198455_2,lower_third,carcinoma,0,1	.	.	.	0			c.A14350G						.						37.0	46.0	43.0					7																	149523267		1973	4143	6116			23145	exon101			GGCACTATGGAGC	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		chr7.hg19:g.149523267A>G		49.0	0.0		71.0	3.0	NM_198455	Q76B61	Missense_Mutation	SNP	ENST00000378016.2	hg19																																																																																				.	.		0.652	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript			
FBXO25	26260	hgsc.bcm.edu	37	8	408474	408474	+	Missense_Mutation	SNP	A	A	G			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr8:408474A>G	ENST00000276326.5	+	8	885	c.766A>G	c.(766-768)Acc>Gcc	p.T256A	FBXO25_ENST00000519376.1_3'UTR|FBXO25_ENST00000382824.1_Missense_Mutation_p.T189A|FBXO25_ENST00000350302.3_Missense_Mutation_p.T256A|FBXO25_ENST00000352684.2_Missense_Mutation_p.T189A	NM_183421.1	NP_904357.1	Q8TCJ0	FBX25_HUMAN	F-box protein 25	256	F-box.				protein ubiquitination (GO:0016567)	nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10		Ovarian(12;0.00965)|Colorectal(14;0.0815)|Myeloproliferative disorder(644;0.116)|all_neural(12;0.122)		Epithelial(5;3.14e-14)|OV - Ovarian serous cystadenocarcinoma(5;1.56e-07)|BRCA - Breast invasive adenocarcinoma(11;1.88e-06)		AGGCCAGGTGACCCCCACGTT	0.507																																					p.T256A		Atlas-SNP	.											.	FBXO25	25	.	0			c.A766G						.						181.0	144.0	156.0					8																	408474		2203	4300	6503	SO:0001583	missense	26260	exon8			CAGGTGACCCCCA	AF174605	CCDS5952.1, CCDS5953.1, CCDS5954.1	8p23.3	2007-03-30	2004-06-15		ENSG00000147364	ENSG00000147364		"""F-boxes /  ""other"""""	13596	protein-coding gene	gene with protein product		609098	"""F-box only protein 25"""			10531035, 10531037	Standard	NM_012173		Approved	FBX25	uc003wox.3	Q8TCJ0	OTTHUMG00000090341	ENST00000276326.5:c.766A>G	chr8.hg19:g.408474A>G	ENSP00000276326:p.Thr256Ala	154.0	0.0		103.0	5.0	NM_183420	Q6PJ83|Q7Z4V4|Q9UKB8	Missense_Mutation	SNP	ENST00000276326.5	hg19	CCDS5953.1	.	.	.	.	.	.	.	.	.	.	A	9.520	1.108057	0.20714	.	.	ENSG00000147364	ENST00000350302;ENST00000352684;ENST00000276326;ENST00000382824	T;T;T;T	0.21932	1.98;1.98;1.98;1.98	4.32	4.32	0.51571	F-box domain, Skp2-like (1);	0.048093	0.85682	D	0.000000	T	0.19886	0.0478	L	0.46741	1.465	0.53688	D	0.999979	P;P;P	0.47106	0.89;0.69;0.69	B;B;B	0.44044	0.225;0.439;0.439	T	0.03453	-1.1035	10	0.13853	T	0.58	-25.7154	11.6929	0.51527	1.0:0.0:0.0:0.0	.	189;256;256	Q8TCJ0-3;Q8TCJ0-2;Q8TCJ0	.;.;FBX25_HUMAN	A	256;189;256;189	ENSP00000342077:T256A;ENSP00000341345:T189A;ENSP00000276326:T256A;ENSP00000372274:T189A	ENSP00000276326:T256A	T	+	1	0	FBXO25	398474	1.000000	0.71417	0.997000	0.53966	0.773000	0.43773	5.522000	0.67092	1.697000	0.51169	0.482000	0.46254	ACC	.	.		0.507	FBXO25-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206710.2	NM_012173	
XKR5	389610	hgsc.bcm.edu	37	8	6681155	6681155	+	RNA	SNP	T	T	C	rs539008683		TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr8:6681155T>C	ENST00000518724.1	-	0	675							Q6UX68	XKR5_HUMAN	XK, Kell blood group complex subunit-related family, member 5							integral component of membrane (GO:0016021)		p.P175P(1)		endometrium(1)|large_intestine(1)|lung(1)	3			STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)		GGGCGGCCCATGGCATGGCCA	0.587													T|||	1	0.000199681	0.0	0.0	5008	,	,		19137	0.001		0.0	False		,,,				2504	0.0				p.P175P		Atlas-SNP	.											XKR5,caecum,carcinoma,0,1	XKR5	20	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A525G						.						24.0	28.0	27.0					8																	6681155		1990	4157	6147			389610	exon4			GGCCCATGGCATG	AY358489		8p23.1	2006-01-12	2006-01-12		ENSG00000186530	ENSG00000275591			20782	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 5"""				Standard	NM_207411		Approved		uc022aqv.1	Q6UX68	OTTHUMG00000153652		chr8.hg19:g.6681155T>C		103.0	0.0		71.0	3.0	NM_207411	Q5GH74	Silent	SNP	ENST00000518724.1	hg19																																																																																				.	.		0.587	XKR5-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000331969.2	NM_207411	
TUSC3	7991	hgsc.bcm.edu	37	8	15605922	15605922	+	Missense_Mutation	SNP	T	T	C			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr8:15605922T>C	ENST00000503731.1	+	9	1124	c.976T>C	c.(976-978)Ttc>Ctc	p.F326L	TUSC3_ENST00000506802.1_Intron|TUSC3_ENST00000382020.4_Missense_Mutation_p.F326L	NM_006765.3	NP_006756.2	Q13454	TUSC3_HUMAN	tumor suppressor candidate 3	326					cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|cognition (GO:0050890)|magnesium ion transport (GO:0015693)|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 plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|oligosaccharyltransferase complex (GO:0008250)	magnesium ion transmembrane transporter activity (GO:0015095)	p.F326V(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(10)|ovary(2)	28				Colorectal(111;0.113)		GGTCTTCTTCTTCAGTTTTCT	0.323																																					p.F326L		Atlas-SNP	.											TUSC3,caecum,carcinoma,0,1	TUSC3	98	.	1	Substitution - Missense(1)	large_intestine(1)	c.T976C						.						247.0	235.0	239.0					8																	15605922		2203	4300	6503	SO:0001583	missense	7991	exon9			TTCTTCTTCAGTT	AK026149	CCDS5993.1, CCDS5994.1	8p22	2010-10-22			ENSG00000104723	ENSG00000104723			30242	protein-coding gene	gene with protein product	"""oligosaccharyltransferase 3 homolog A (S. cerevisiae)"""	601385				8661104, 10097140	Standard	NM_178234		Approved	MGC13453, N33, OST3A, MRT7	uc003wwt.3	Q13454	OTTHUMG00000094803	ENST00000503731.1:c.976T>C	chr8.hg19:g.15605922T>C	ENSP00000424544:p.Phe326Leu	145.0	0.0		81.0	4.0	NM_178234	A8MSM0|D3DSP2|Q14911|Q14912|Q96FW0	Missense_Mutation	SNP	ENST00000503731.1	hg19	CCDS5994.1	.	.	.	.	.	.	.	.	.	.	T	27.2	4.808692	0.90707	.	.	ENSG00000104723	ENST00000382020;ENST00000503731	T;T	0.78003	-1.14;-1.14	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	D	0.84502	0.5486	L	0.51422	1.61	0.80722	D	1	P;P	0.52577	0.954;0.739	D;P	0.66351	0.943;0.516	D	0.84930	0.0859	10	0.54805	T	0.06	-16.1508	15.7284	0.77780	0.0:0.0:0.0:1.0	.	326;326	Q13454-2;Q13454	.;TUSC3_HUMAN	L	326	ENSP00000371450:F326L;ENSP00000424544:F326L	ENSP00000221167:F326L	F	+	1	0	TUSC3	15650293	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.367000	0.79558	2.371000	0.80710	0.533000	0.62120	TTC	.	.		0.323	TUSC3-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365367.1	NM_006765	
ASAH1	427	hgsc.bcm.edu	37	8	17920692	17920692	+	Splice_Site	SNP	A	A	G			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr8:17920692A>G	ENST00000262097.6	-	7	815		c.e7+1		ASAH1_ENST00000314146.10_Splice_Site|ASAH1_ENST00000520781.1_Splice_Site|ASAH1_ENST00000417108.2_Splice_Site|ASAH1_ENST00000381733.4_Splice_Site	NM_177924.3	NP_808592.2	Q13510	ASAH1_HUMAN	N-acylsphingosine amidohydrolase (acid ceramidase) 1						cell death (GO:0008219)|ceramide metabolic process (GO:0006672)|glycosphingolipid metabolic process (GO:0006687)|lung development (GO:0030324)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	catalytic activity (GO:0003824)|ceramidase activity (GO:0017040)			breast(1)|endometrium(2)|large_intestine(4)|lung(2)	9				Colorectal(111;0.0646)|COAD - Colon adenocarcinoma(73;0.228)		TTCTTTACTTACCCAAGAAAT	0.438																																					.		Atlas-SNP	.											.	ASAH1	71	.	0			c.551+2T>C						.						301.0	299.0	299.0					8																	17920692		2203	4300	6503	SO:0001630	splice_region_variant	427	exon8			TTACTTACCCAAG	U70063	CCDS6005.1, CCDS6006.1, CCDS47813.1	8p22	2007-03-27	2002-09-11	2002-09-13	ENSG00000104763	ENSG00000104763			735	protein-coding gene	gene with protein product		613468	"""N-acylsphingosine amidohydrolase (acid ceramidase)"""	ASAH		8955159, 10610716	Standard	NM_004315		Approved	AC, PHP32, FLJ21558	uc003wyn.2	Q13510	OTTHUMG00000096997	ENST00000262097.6:c.503+1T>C	chr8.hg19:g.17920692A>G		147.0	0.0		82.0	4.0	NM_004315	E9PDS0|Q6W898|Q96AS2	Splice_Site	SNP	ENST00000262097.6	hg19	CCDS6006.1	.	.	.	.	.	.	.	.	.	.	A	16.35	3.097594	0.56075	.	.	ENSG00000104763	ENST00000262097;ENST00000381733;ENST00000520781;ENST00000417108;ENST00000314146	.	.	.	5.03	5.03	0.67393	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.4268	0.67220	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ASAH1	17964972	1.000000	0.71417	1.000000	0.80357	0.585000	0.36419	8.076000	0.89503	2.184000	0.69523	0.533000	0.62120	.	.	.		0.438	ASAH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214077.2	NM_004315	Intron
KIF13B	23303	hgsc.bcm.edu	37	8	28980143	28980143	+	Missense_Mutation	SNP	T	T	C	rs370420261		TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr8:28980143T>C	ENST00000524189.1	-	29	3538	c.3500A>G	c.(3499-3501)gAg>gGg	p.E1167G	CTD-2647L4.1_ENST00000523661.1_RNA	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	1167					metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein targeting (GO:0006605)|regulation of axonogenesis (GO:0050770)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	axon (GO:0030424)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)	p.E1167A(1)		endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		AATGTGTGTCTCCATCCCAGG	0.438																																					p.E1167G		Atlas-SNP	.											KIF13B_ENST00000524189,colon,carcinoma,0,1	KIF13B	192	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3500G						.	T	GLY/GLU	0,3826		0,0,1913	85.0	79.0	81.0		3500	5.3	1.0	8		81	1,8265		0,1,4132	no	missense	KIF13B	NM_015254.3	98	0,1,6045	CC,CT,TT		0.0121,0.0,0.0083	probably-damaging	1167/1827	28980143	1,12091	1913	4133	6046	SO:0001583	missense	23303	exon29			TGTGTCTCCATCC	AB014539	CCDS55217.1	8p21	2008-07-30				ENSG00000197892		"""Kinesins"""	14405	protein-coding gene	gene with protein product		607350				9734811, 10859302, 16864656	Standard	NM_015254		Approved	GAKIN, KIAA0639	uc003xhh.4	Q9NQT8		ENST00000524189.1:c.3500A>G	chr8.hg19:g.28980143T>C	ENSP00000427900:p.Glu1167Gly	136.0	0.0		74.0	3.0	NM_015254	B4DGY5|B5MC45|F8VPJ2|O75134|Q9BYJ6	Missense_Mutation	SNP	ENST00000524189.1	hg19	CCDS55217.1	.	.	.	.	.	.	.	.	.	.	T	27.3	4.816701	0.90790	0.0	1.21E-4	ENSG00000197892	ENST00000524189	D	0.89050	-2.46	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	D	0.93756	0.8004	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94436	0.7654	10	0.87932	D	0	.	15.3683	0.74541	0.0:0.0:0.0:1.0	.	1167	F8VPJ2	.	G	1167	ENSP00000427900:E1167G	ENSP00000427900:E1167G	E	-	2	0	KIF13B	29036062	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.461000	0.80834	2.206000	0.71126	0.528000	0.53228	GAG	.	.		0.438	KIF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376878.1		
TEX15	56154	hgsc.bcm.edu	37	8	30705230	30705230	+	Missense_Mutation	SNP	T	T	C			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr8:30705230T>C	ENST00000256246.2	-	1	1378	c.1304A>G	c.(1303-1305)gAg>gGg	p.E435G	TEX15_ENST00000523186.1_5'Flank	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	435					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		CTGAATGTTCTCTAATGACAC	0.348																																					p.E435G		Atlas-SNP	.											.	TEX15	350	.	0			c.A1304G						.						148.0	147.0	148.0					8																	30705230		2203	4300	6503	SO:0001583	missense	56154	exon1			ATGTTCTCTAATG	AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.1304A>G	chr8.hg19:g.30705230T>C	ENSP00000256246:p.Glu435Gly	109.0	0.0		81.0	4.0	NM_031271		Missense_Mutation	SNP	ENST00000256246.2	hg19	CCDS6080.1	.	.	.	.	.	.	.	.	.	.	T	11.92	1.781671	0.31502	.	.	ENSG00000133863	ENST00000256246	T	0.10668	2.85	5.61	1.75	0.24633	.	0.664633	0.13939	N	0.352379	T	0.07503	0.0189	L	0.29908	0.895	0.09310	N	1	B	0.15930	0.015	B	0.18561	0.022	T	0.34502	-0.9826	10	0.87932	D	0	.	3.5494	0.07840	0.1323:0.0737:0.1383:0.6557	.	435	Q9BXT5	TEX15_HUMAN	G	435	ENSP00000256246:E435G	ENSP00000256246:E435G	E	-	2	0	TEX15	30824772	0.002000	0.14202	0.004000	0.12327	0.003000	0.03518	0.335000	0.19806	0.112000	0.17975	-0.297000	0.09499	GAG	.	.		0.348	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1		
WRN	7486	hgsc.bcm.edu	37	8	30938674	30938674	+	Silent	SNP	A	A	G			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr8:30938674A>G	ENST00000298139.5	+	9	1380	c.1131A>G	c.(1129-1131)ggA>ggG	p.G377G		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	377					aging (GO:0007568)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to starvation (GO:0009267)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|double-strand break repair (GO:0006302)|multicellular organismal aging (GO:0010259)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleolus to nucleoplasm transport (GO:0032066)|positive regulation of hydrolase activity (GO:0051345)|regulation of apoptotic process (GO:0042981)|regulation of growth rate (GO:0040009)|replication fork processing (GO:0031297)|replicative cell aging (GO:0001302)|response to oxidative stress (GO:0006979)|response to UV-C (GO:0010225)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	3'-5' DNA helicase activity (GO:0043138)|3'-5' exonuclease activity (GO:0008408)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|exonuclease activity (GO:0004527)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|Y-form DNA binding (GO:0000403)			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		TTGAAGATGGAGTAGAAGACA	0.363			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome																												p.G377G	Ovarian(18;161 598 2706 14834 27543)	Atlas-SNP	.	yes	Rec		Werner Syndrome	8	8p12-p11.2	7486	Werner syndrome (RECQL2)		"""L, E, M, O"""	.	WRN	116	.	0			c.A1131G						.						111.0	113.0	112.0					8																	30938674		2203	4300	6503	SO:0001819	synonymous_variant	7486	exon9	Familial Cancer Database	WS, Adult Progeria	AGATGGAGTAGAA		CCDS6082.1	8p12	2014-09-17	2009-03-19		ENSG00000165392	ENSG00000165392			12791	protein-coding gene	gene with protein product		604611	"""Werner syndrome"""			9288107	Standard	NM_000553		Approved	RECQL2, RECQ3	uc003xio.4	Q14191	OTTHUMG00000163894	ENST00000298139.5:c.1131A>G	chr8.hg19:g.30938674A>G		153.0	0.0		95.0	4.0	NM_000553	A1KYY9	Silent	SNP	ENST00000298139.5	hg19	CCDS6082.1																																																																																			.	.		0.363	WRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376248.1		
HOOK3	84376	hgsc.bcm.edu	37	8	42812266	42812266	+	Silent	SNP	T	T	C			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr8:42812266T>C	ENST00000307602.4	+	7	698	c.498T>C	c.(496-498)gcT>gcC	p.A166A		NM_032410.3	NP_115786.1	Q86VS8	HOOK3_HUMAN	hook microtubule-tethering protein 3	166					cytoplasmic microtubule organization (GO:0031122)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|Golgi localization (GO:0051645)|interkinetic nuclear migration (GO:0022027)|lysosome organization (GO:0007040)|microtubule anchoring at centrosome (GO:0034454)|negative regulation of neurogenesis (GO:0050768)|neuronal stem cell maintenance (GO:0097150)|protein localization to centrosome (GO:0071539)|protein transport (GO:0015031)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|FHF complex (GO:0070695)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule organizing center (GO:0005815)|pericentriolar material (GO:0000242)	identical protein binding (GO:0042802)|microtubule binding (GO:0008017)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	31	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			CTGTCTCTGCTGGAAATGATG	0.308			T	RET	papillary thyroid																																p.A166A		Atlas-SNP	.		Dom	yes		8	8p11.21	84376	hook homolog 3		E	.	HOOK3	71	.	0			c.T498C						.						103.0	98.0	100.0					8																	42812266		2203	4299	6502	SO:0001819	synonymous_variant	84376	exon7			CTCTGCTGGAAAT	AK090540	CCDS6139.1	8p11.21	2013-08-21	2013-08-21		ENSG00000168172	ENSG00000168172			23576	protein-coding gene	gene with protein product		607825	"""hook homolog 3 (Drosophila)"""			9927460	Standard	NM_032410		Approved	HK3	uc003xpr.3	Q86VS8	OTTHUMG00000165278	ENST00000307602.4:c.498T>C	chr8.hg19:g.42812266T>C		83.0	0.0		84.0	4.0	NM_032410	D3DSY8|Q8NBH0|Q9BY13	Silent	SNP	ENST00000307602.4	hg19	CCDS6139.1																																																																																			.	.		0.308	HOOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383172.2	NM_032410	
PXDNL	137902	hgsc.bcm.edu	37	8	52321315	52321315	+	Missense_Mutation	SNP	C	C	A			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr8:52321315C>A	ENST00000356297.4	-	17	2969	c.2869G>T	c.(2869-2871)Ggg>Tgg	p.G957W	PXDNL_ENST00000543296.1_Missense_Mutation_p.G957W	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	957					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)			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)				CGGTGGTCCCCGGCCAGGAAA	0.652																																					p.G957W		Atlas-SNP	.											.	PXDNL	414	.	0			c.G2869T						.						12.0	13.0	13.0					8																	52321315		1965	4141	6106	SO:0001583	missense	137902	exon17			GGTCCCCGGCCAG		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.2869G>T	chr8.hg19:g.52321315C>A	ENSP00000348645:p.Gly957Trp	118.0	0.0		166.0	32.0	NM_144651	B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	ENST00000356297.4	hg19	CCDS47855.1	.	.	.	.	.	.	.	.	.	.	C	10.93	1.488586	0.26686	.	.	ENSG00000147485	ENST00000356297;ENST00000543296	D;D	0.94280	-3.39;-3.39	4.16	2.35	0.29111	.	0.120623	0.36972	N	0.002308	D	0.97870	0.9300	H	0.99368	4.535	0.38939	D	0.958116	D	0.89917	1.0	D	0.97110	1.0	D	0.96100	0.9068	10	0.87932	D	0	.	8.2046	0.31446	0.0:0.7973:0.0:0.2027	.	957	A1KZ92	PXDNL_HUMAN	W	957	ENSP00000348645:G957W;ENSP00000444865:G957W	ENSP00000348645:G957W	G	-	1	0	PXDNL	52483868	0.978000	0.34361	0.000000	0.03702	0.005000	0.04900	3.193000	0.50997	0.236000	0.21180	-0.768000	0.03414	GGG	.	.		0.652	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651	
ZFHX4	79776	hgsc.bcm.edu	37	8	77690642	77690642	+	Missense_Mutation	SNP	T	T	C			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr8:77690642T>C	ENST00000521891.2	+	4	3740	c.3292T>C	c.(3292-3294)Ttt>Ctt	p.F1098L	ZFHX4_ENST00000050961.6_Missense_Mutation_p.F1072L|ZFHX4_ENST00000455469.2_Missense_Mutation_p.F1072L|ZFHX4_ENST00000517683.1_3'UTR|ZFHX4_ENST00000518282.1_Missense_Mutation_p.F1072L	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1072					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CAGTGAGATCTTTTTTGTTAA	0.537										HNSCC(33;0.089)																											p.F1098L		Atlas-SNP	.											.	ZFHX4	878	.	0			c.T3292C						.						112.0	120.0	117.0					8																	77690642		1992	4166	6158	SO:0001583	missense	79776	exon4			GAGATCTTTTTTG		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.3292T>C	chr8.hg19:g.77690642T>C	ENSP00000430497:p.Phe1098Leu	82.0	0.0		146.0	6.0	NM_024721	G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	hg19	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	T	13.60	2.284793	0.40394	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.50813	0.73;0.73;0.73;0.73	5.22	5.22	0.72569	.	0.000000	0.45867	U	0.000329	T	0.70771	0.3262	M	0.84326	2.69	0.80722	D	1	D;D;D	0.71674	0.997;0.998;0.998	D;D;D	0.76071	0.97;0.987;0.987	T	0.74870	-0.3517	10	0.56958	D	0.05	.	15.5609	0.76244	0.0:0.0:0.0:1.0	.	1072;1072;1098	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	L	1098;1098;1072;1072;1072	ENSP00000430497:F1098L;ENSP00000399605:F1072L;ENSP00000050961:F1072L;ENSP00000430848:F1072L	ENSP00000050961:F1072L	F	+	1	0	ZFHX4	77853197	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.954000	0.63631	2.320000	0.78422	0.528000	0.53228	TTT	.	.		0.537	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721	
NBN	4683	hgsc.bcm.edu	37	8	90960118	90960118	+	Silent	SNP	T	T	C	rs587782269		TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr8:90960118T>C	ENST00000265433.3	-	12	2002	c.1848A>G	c.(1846-1848)caA>caG	p.Q616Q	NBN_ENST00000409330.1_Silent_p.Q534Q	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	nibrin	616					blastocyst growth (GO:0001832)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|DNA damage checkpoint (GO:0000077)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intrinsic apoptotic signaling pathway (GO:0097193)|isotype switching (GO:0045190)|meiotic nuclear division (GO:0007126)|mitotic cell cycle checkpoint (GO:0007093)|mitotic G2 DNA damage checkpoint (GO:0007095)|neuromuscular process controlling balance (GO:0050885)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|telomere maintenance (GO:0000723)	Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nuclear inclusion body (GO:0042405)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|replication fork (GO:0005657)|site of double-strand break (GO:0035861)	damaged DNA binding (GO:0003684)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(11;0.0344)			TTTCATTTTCTTGCTAAAGAA	0.289								Homologous recombination																													p.Q616Q		Atlas-SNP	.											.	NBN	86	.	0			c.A1848G						.						53.0	48.0	50.0					8																	90960118		2198	4292	6490	SO:0001819	synonymous_variant	4683	exon12			ATTTTCTTGCTAA	AF058696	CCDS6249.1	8q21-q24	2014-09-17	2005-06-02	2005-06-02	ENSG00000104320	ENSG00000104320			7652	protein-coding gene	gene with protein product		602667	"""Nijmegen breakage syndrome 1 (nibrin)"""	NBS, NBS1		9590181, 9590180	Standard	XM_005250923		Approved	ATV, AT-V2, AT-V1	uc003yej.1	O60934	OTTHUMG00000153546	ENST00000265433.3:c.1848A>G	chr8.hg19:g.90960118T>C		85.0	0.0		83.0	4.0	NM_002485	B2R626|B2RNC5|O60672|Q32NF7|Q53FM6|Q63HR6|Q7LDM2	Silent	SNP	ENST00000265433.3	hg19	CCDS6249.1																																																																																			.	.		0.289	NBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331583.3	NM_001024688	
RGS22	26166	hgsc.bcm.edu	37	8	101016167	101016167	+	Missense_Mutation	SNP	T	T	C			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr8:101016167T>C	ENST00000360863.6	-	17	2808	c.2614A>G	c.(2614-2616)Act>Gct	p.T872A	RGS22_ENST00000519421.1_5'UTR|SNORD77_ENST00000391112.1_RNA|RGS22_ENST00000523437.1_Missense_Mutation_p.T860A|RGS22_ENST00000523287.1_Missense_Mutation_p.T691A	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	872	RGS 1. {ECO:0000255|PROSITE- ProRule:PRU00171}.				positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			GAAGAATGAGTCTCAAGAAAC	0.323																																					p.T872A		Atlas-SNP	.											.	RGS22	319	.	0			c.A2614G						.						123.0	113.0	116.0					8																	101016167		1843	4086	5929	SO:0001583	missense	26166	exon17			AATGAGTCTCAAG	AY009106	CCDS43758.1, CCDS69521.1, CCDS75775.1	8q22.2	2014-01-21	2007-08-14		ENSG00000132554	ENSG00000132554		"""Regulators of G-protein signaling"""	24499	protein-coding gene	gene with protein product		615650	"""regulator of G-protein signalling 22"""				Standard	XM_005250856		Approved	DKFZP434I092, PRTD-NY2, CT145	uc003yjb.1	Q8NE09	OTTHUMG00000164802	ENST00000360863.6:c.2614A>G	chr8.hg19:g.101016167T>C	ENSP00000354109:p.Thr872Ala	65.0	0.0		79.0	6.0	NM_015668	A8K944|Q569L2|Q86Y71|Q9BYZ4|Q9UFN6	Missense_Mutation	SNP	ENST00000360863.6	hg19	CCDS43758.1	.	.	.	.	.	.	.	.	.	.	T	0.763	-0.768655	0.02974	.	.	ENSG00000132554	ENST00000360863;ENST00000427793;ENST00000523287;ENST00000523437;ENST00000517828	T;T;T;T	0.23348	1.91;1.91;1.91;1.91	5.49	0.496	0.16896	Regulator of G protein signalling (3);Regulator of G protein signalling superfamily (1);	0.778208	0.11603	N	0.547526	T	0.06325	0.0163	N	0.00538	-1.39	0.09310	N	0.999999	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.40813	-0.9543	10	0.10377	T	0.69	.	9.1571	0.36998	0.4657:0.4546:0.0:0.0797	.	860;872;691	A8K944;Q8NE09;G3V112	.;RGS22_HUMAN;.	A	872;860;691;860;187	ENSP00000354109:T872A;ENSP00000429382:T691A;ENSP00000428212:T860A;ENSP00000427754:T187A	ENSP00000354109:T872A	T	-	1	0	RGS22	101085343	0.104000	0.21937	0.985000	0.45067	0.767000	0.43475	0.031000	0.13710	0.126000	0.18424	-1.252000	0.01501	ACT	.	.		0.323	RGS22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380365.1	NM_015668	
GRHL2	79977	hgsc.bcm.edu	37	8	102589654	102589654	+	Missense_Mutation	SNP	T	T	C			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr8:102589654T>C	ENST00000251808.3	+	7	1248	c.910T>C	c.(910-912)Ttc>Ctc	p.F304L	GRHL2_ENST00000395927.1_Missense_Mutation_p.F288L	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	grainyhead-like 2 (Drosophila)	304					brain development (GO:0007420)|camera-type eye development (GO:0043010)|cardiac ventricle morphogenesis (GO:0003208)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digit morphogenesis (GO:0042733)|face development (GO:0060324)|in utero embryonic development (GO:0001701)|lung lobe morphogenesis (GO:0060463)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			GATGGTGGTCTTCAGTGAAGA	0.483																																					p.F304L		Atlas-SNP	.											.	GRHL2	68	.	0			c.T910C						.						121.0	102.0	109.0					8																	102589654		2203	4300	6503	SO:0001583	missense	79977	exon7			GTGGTCTTCAGTG	AK023844	CCDS34931.1	8q22.3	2008-02-05	2005-07-11	2005-07-11	ENSG00000083307	ENSG00000083307			2799	protein-coding gene	gene with protein product		608576	"""deafness, autosomal dominant 28"", ""transcription factor CP2-like 3"""	DFNA28, TFCP2L3		12393799	Standard	NM_024915		Approved	FLJ13782, BOM	uc010mbu.3	Q6ISB3	OTTHUMG00000149915	ENST00000251808.3:c.910T>C	chr8.hg19:g.102589654T>C	ENSP00000251808:p.Phe304Leu	47.0	0.0		77.0	4.0	NM_024915	A1L303|Q6NT03|Q9H8B8	Missense_Mutation	SNP	ENST00000251808.3	hg19	CCDS34931.1	.	.	.	.	.	.	.	.	.	.	T	32	5.177064	0.94846	.	.	ENSG00000083307	ENST00000251808;ENST00000395927;ENST00000395928	T;T	0.48836	0.8;0.8	5.35	5.35	0.76521	CP2 transcription factor (1);	0.000000	0.85682	D	0.000000	T	0.72220	0.3433	M	0.85710	2.77	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.77797	-0.2453	10	0.87932	D	0	-24.3069	15.645	0.77042	0.0:0.0:0.0:1.0	.	304	Q6ISB3	GRHL2_HUMAN	L	304;288;304	ENSP00000251808:F304L;ENSP00000379260:F288L	ENSP00000251808:F304L	F	+	1	0	GRHL2	102658830	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.997000	0.88414	2.146000	0.66826	0.533000	0.62120	TTC	.	.		0.483	GRHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313882.1	NM_024915	
ZFPM2	23414	hgsc.bcm.edu	37	8	106456547	106456547	+	Missense_Mutation	SNP	G	G	A	rs374450510		TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr8:106456547G>A	ENST00000407775.2	+	3	489	c.239G>A	c.(238-240)gGg>gAg	p.G80E	ZFPM2_ENST00000520492.1_5'UTR	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	80					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			GAATCAGATGGGGACACACAG	0.463																																					p.G80E		Atlas-SNP	.											.	ZFPM2	219	.	0			c.G239A						.						78.0	83.0	82.0					8																	106456547		1938	4156	6094	SO:0001583	missense	23414	exon3			CAGATGGGGACAC	AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	16700	protein-coding gene	gene with protein product		603693	"""zinc finger protein, multitype 2"""			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.239G>A	chr8.hg19:g.106456547G>A	ENSP00000384179:p.Gly80Glu	61.0	0.0		84.0	4.0	NM_012082	Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Missense_Mutation	SNP	ENST00000407775.2	hg19	CCDS47908.1	.	.	.	.	.	.	.	.	.	.	G	11.69	1.714764	0.30413	.	.	ENSG00000169946	ENST00000407775	T	0.17854	2.25	5.87	5.87	0.94306	.	0.293907	0.27851	N	0.017599	T	0.12220	0.0297	N	0.04508	-0.205	0.80722	D	1	D	0.54964	0.969	P	0.46144	0.505	T	0.29792	-1.0000	10	0.17369	T	0.5	.	20.193	0.98233	0.0:0.0:1.0:0.0	.	80	Q8WW38	FOG2_HUMAN	E	80	ENSP00000384179:G80E	ENSP00000384179:G80E	G	+	2	0	ZFPM2	106525723	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.791000	0.55469	2.941000	0.99782	0.655000	0.94253	GGG	.	.		0.463	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1		
COL22A1	169044	hgsc.bcm.edu	37	8	139890424	139890424	+	Missense_Mutation	SNP	C	C	A			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr8:139890424C>A	ENST00000303045.6	-	3	673	c.227G>T	c.(226-228)cGt>cTt	p.R76L	COL22A1_ENST00000435777.1_Missense_Mutation_p.R76L	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	76	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GACCCCCACACGGGTGCGGTC	0.687										HNSCC(7;0.00092)																											p.R76L		Atlas-SNP	.											.	COL22A1	390	.	0			c.G227T						.						14.0	16.0	15.0					8																	139890424		2199	4297	6496	SO:0001583	missense	169044	exon3			CCCACACGGGTGC	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.227G>T	chr8.hg19:g.139890424C>A	ENSP00000303153:p.Arg76Leu	44.0	0.0		73.0	22.0	NM_152888	B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	hg19	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	C	35	5.486310	0.96323	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.86865	-2.18;-2.18	5.28	5.28	0.74379	von Willebrand factor, type A (3);	0.000000	0.48286	U	0.000191	D	0.93413	0.7899	M	0.79614	2.46	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93351	0.6718	9	.	.	.	.	17.8919	0.88875	0.0:1.0:0.0:0.0	.	76	Q8NFW1	COMA1_HUMAN	L	76	ENSP00000303153:R76L;ENSP00000387655:R76L	.	R	-	2	0	COL22A1	139959606	1.000000	0.71417	0.954000	0.39281	0.984000	0.73092	7.606000	0.82863	2.440000	0.82611	0.585000	0.79938	CGT	.	.		0.687	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257	
TSNARE1	203062	hgsc.bcm.edu	37	8	143399967	143399967	+	Missense_Mutation	SNP	T	T	C			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr8:143399967T>C	ENST00000307180.3	-	7	1039	c.922A>G	c.(922-924)Acc>Gcc	p.T308A	TSNARE1_ENST00000519651.1_Missense_Mutation_p.T89A|TSNARE1_ENST00000524325.1_Missense_Mutation_p.T308A|TSNARE1_ENST00000518928.1_5'UTR|TSNARE1_ENST00000520166.1_Missense_Mutation_p.T308A	NM_145003.3	NP_659440.2	Q96NA8	TSNA1_HUMAN	t-SNARE domain containing 1	308					intracellular protein transport (GO:0006886)|synaptic vesicle exocytosis (GO:0016079)	integral component of membrane (GO:0016021)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)|SNARE binding (GO:0000149)			breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					GCTGCAATGGTCTTGTTGGTC	0.667																																					p.T308A		Atlas-SNP	.											.	TSNARE1	59	.	0			c.A922G						.						92.0	86.0	88.0					8																	143399967		2203	4300	6503	SO:0001583	missense	203062	exon7			CAATGGTCTTGTT			8q24.3	2005-08-18							26437	protein-coding gene	gene with protein product						14702039	Standard	XM_005250828		Approved	FLJ31164	uc003ywk.3	Q96NA8		ENST00000307180.3:c.922A>G	chr8.hg19:g.143399967T>C	ENSP00000303437:p.Thr308Ala	65.0	0.0		64.0	4.0	NM_145003	B7ZLB0|Q14D03	Missense_Mutation	SNP	ENST00000307180.3	hg19	CCDS6384.1	.	.	.	.	.	.	.	.	.	.	T	0.056	-1.236321	0.01505	.	.	ENSG00000171045	ENST00000524325;ENST00000307180;ENST00000520166;ENST00000519651	T;T;T;T	0.29655	1.56;1.56;1.56;1.56	4.0	1.44	0.22558	t-SNARE (1);	0.238492	0.20572	U	0.089706	T	0.27063	0.0663	M	0.72894	2.215	0.09310	N	1	B;B;B;B	0.24618	0.064;0.107;0.064;0.064	B;B;B;B	0.20184	0.028;0.021;0.028;0.028	T	0.24584	-1.0156	10	0.20519	T	0.43	.	7.1917	0.25828	0.0:0.2023:0.0:0.7977	.	308;89;308;308	B7ZLB0;E5RHT3;Q96NA8;A0AVG3	.;.;TSNA1_HUMAN;.	A	308;308;308;89	ENSP00000428763:T308A;ENSP00000303437:T308A;ENSP00000427770:T308A;ENSP00000429679:T89A	ENSP00000303437:T308A	T	-	1	0	TSNARE1	143397874	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.277000	0.08502	-0.006000	0.14370	0.533000	0.62120	ACC	.	.		0.667	TSNARE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_145003	
ZNF7	7553	hgsc.bcm.edu	37	8	146067567	146067567	+	Missense_Mutation	SNP	G	G	A			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr8:146067567G>A	ENST00000528372.1	+	5	1315	c.1075G>A	c.(1075-1077)Gag>Aag	p.E359K	ZNF7_ENST00000325217.5_Intron|ZNF7_ENST00000525266.1_Intron|ZNF7_ENST00000544249.1_Missense_Mutation_p.E263K|ZNF7_ENST00000446747.2_Missense_Mutation_p.E370K|ZNF7_ENST00000325241.6_Missense_Mutation_p.E359K			P17097	ZNF7_HUMAN	zinc finger protein 7	359					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)			endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(5)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.0812)|Ovarian(118;0.0822)|Acute lymphoblastic leukemia(644;0.143)	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)	GBM - Glioblastoma multiforme(99;2.11e-07)		TCACACTGGGGAGAGGCCCTA	0.557																																					p.E359K		Atlas-SNP	.											ZNF7,NS,carcinoma,-2,1	ZNF7	62	.	0			c.G1075A						.						59.0	56.0	57.0					8																	146067567		2203	4300	6503	SO:0001583	missense	7553	exon5			ACTGGGGAGAGGC	AB209619	CCDS6435.1, CCDS64996.1, CCDS64998.1, CCDS64999.1	8q24	2013-01-08	2006-05-09		ENSG00000147789	ENSG00000147789		"""Zinc fingers, C2H2-type"", ""-"""	13139	protein-coding gene	gene with protein product		194531	"""zinc finger protein 7 (KOX 4, clone HF.16)"""			2106481, 1946370	Standard	NM_003416		Approved	KOX4, HF.16	uc003zeg.4	P17097	OTTHUMG00000165200	ENST00000528372.1:c.1075G>A	chr8.hg19:g.146067567G>A	ENSP00000432724:p.Glu359Lys	59.0	0.0		39.0	2.0	NM_003416	B4DT08|D3DWN6|P17015|Q8N8Y4	Missense_Mutation	SNP	ENST00000528372.1	hg19	CCDS6435.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.028091	0.75390	.	.	ENSG00000147789	ENST00000325241;ENST00000446747;ENST00000544249;ENST00000528372	T;T;T;T	0.24350	1.86;1.86;1.86;1.86	4.89	4.02	0.46733	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.47852	D	0.000212	T	0.33527	0.0866	L	0.56199	1.76	0.80722	D	1	D;D	0.53462	0.96;0.96	P;P	0.53518	0.728;0.728	T	0.04041	-1.0982	9	.	.	.	-30.5563	8.8041	0.34927	0.1751:0.0:0.8249:0.0	.	370;359	B4DT08;P17097	.;ZNF7_HUMAN	K	359;370;263;359	ENSP00000320627:E359K;ENSP00000393260:E370K;ENSP00000439424:E263K;ENSP00000432724:E359K	.	E	+	1	0	ZNF7	146038371	1.000000	0.71417	0.864000	0.33941	0.935000	0.57460	6.848000	0.75409	1.294000	0.44707	0.555000	0.69702	GAG	.	.		0.557	ZNF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382660.1	NM_003416	
SMARCA2	6595	hgsc.bcm.edu	37	9	2039821	2039821	+	Silent	SNP	G	G	A			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr9:2039821G>A	ENST00000382203.1	+	4	920	c.711G>A	c.(709-711)caG>caA	p.Q237Q	SMARCA2_ENST00000491574.1_3'UTR|RP11-264I13.2_ENST00000426860.1_RNA|SMARCA2_ENST00000382194.1_Silent_p.Q237Q|SMARCA2_ENST00000357248.2_Silent_p.Q237Q|SMARCA2_ENST00000349721.2_Silent_p.Q237Q			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	237	Poly-Gln.			Missing (in Ref. 1; CAA51407). {ECO:0000305}.	aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		agcagcaacagcagccgcagc	0.577																																					p.Q237Q		Atlas-SNP	.											SMARCA2_ENST00000349721,caecum,carcinoma,0,2	SMARCA2	313	.	0			c.G711A						.						12.0	14.0	13.0					9																	2039821		2178	4243	6421	SO:0001819	synonymous_variant	6595	exon4			GCAACAGCAGCCG	D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.711G>A	chr9.hg19:g.2039821G>A		76.0	2.0		77.0	7.0	NM_139045	B1ALG3|B1ALG4|D3DRH4|D3DRH5	Silent	SNP	ENST00000382203.1	hg19	CCDS34977.1																																																																																			.	.		0.577	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1	NM_003070	
CDC37L1	55664	hgsc.bcm.edu	37	9	4688579	4688579	+	Missense_Mutation	SNP	A	A	C			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr9:4688579A>C	ENST00000381854.3	+	3	683	c.481A>C	c.(481-483)Aaa>Caa	p.K161Q	CDC37L1_ENST00000381858.1_Missense_Mutation_p.K161Q	NM_017913.2	NP_060383.2	Q7L3B6	CD37L_HUMAN	cell division cycle 37-like 1	161	Self-association and interaction with Hsp90.|Self-association.					cytoplasm (GO:0005737)				breast(1)|kidney(1)|lung(2)	4	all_hematologic(13;0.137)	Breast(48;0.238)		GBM - Glioblastoma multiforme(50;0.0318)		ATTTATGCAAAAATATGAGCA	0.249																																					p.K161Q		Atlas-SNP	.											.	CDC37L1	19	.	0			c.A481C						.						41.0	42.0	42.0					9																	4688579		2185	4284	6469	SO:0001583	missense	55664	exon3			ATGCAAAAATATG	AK000497	CCDS6454.1	9p24.1	2013-01-17	2013-01-17		ENSG00000106993	ENSG00000106993			17179	protein-coding gene	gene with protein product		610346	"""CDC37 cell division cycle 37 homolog (S. cerevisiae)-like 1"", ""cell division cycle 37 homolog (S. cerevisiae)-like 1"""				Standard	NM_017913		Approved	HARC, FLJ20639, CDC37B	uc003zio.3	Q7L3B6	OTTHUMG00000019465	ENST00000381854.3:c.481A>C	chr9.hg19:g.4688579A>C	ENSP00000371278:p.Lys161Gln	176.0	0.0		160.0	53.0	NM_017913	B1AL70|Q9NWS3|Q9NX16	Missense_Mutation	SNP	ENST00000381854.3	hg19	CCDS6454.1	.	.	.	.	.	.	.	.	.	.	A	18.53	3.644849	0.67358	.	.	ENSG00000106993	ENST00000381858;ENST00000381854	T;T	0.48522	0.81;0.81	5.79	5.79	0.91817	Cdc37, Hsp90 binding (1);	0.098323	0.64402	D	0.000002	T	0.58538	0.2129	M	0.79475	2.455	0.54753	D	0.99998	P	0.45283	0.855	P	0.46320	0.512	T	0.64795	-0.6323	10	0.66056	D	0.02	-25.7243	16.123	0.81375	1.0:0.0:0.0:0.0	.	161	Q7L3B6	CD37L_HUMAN	Q	161	ENSP00000371282:K161Q;ENSP00000371278:K161Q	ENSP00000371278:K161Q	K	+	1	0	CDC37L1	4678579	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.473000	0.73572	2.202000	0.70862	0.533000	0.62120	AAA	.	.		0.249	CDC37L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051564.1	NM_017913	
RIC1	57589	hgsc.bcm.edu	37	9	5756332	5756332	+	Missense_Mutation	SNP	T	T	C			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr9:5756332T>C	ENST00000414202.2	+	16	2004	c.1813T>C	c.(1813-1815)Tgt>Cgt	p.C605R	KIAA1432_ENST00000418622.3_Missense_Mutation_p.C526R|KIAA1432_ENST00000251879.6_Missense_Mutation_p.C605R|KIAA1432_ENST00000381532.2_Missense_Mutation_p.C526R|KIAA1432_ENST00000449720.2_Missense_Mutation_p.C489R	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2														breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		TAGAGCAGACTGTTCAATATG	0.378																																					p.C605R		Atlas-SNP	.											.	KIAA1432	97	.	0			c.T1813C						.						141.0	135.0	137.0					9																	5756332		2203	4300	6503	SO:0001583	missense	57589	exon16			GCAGACTGTTCAA																												ENST00000414202.2:c.1813T>C	chr9.hg19:g.5756332T>C	ENSP00000416696:p.Cys605Arg	82.0	0.0		88.0	4.0	NM_001135920		Missense_Mutation	SNP	ENST00000414202.2	hg19	CCDS34982.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.02|18.02	3.530200|3.530200	0.64860|0.64860	.|.	.|.	ENSG00000107036|ENSG00000107036	ENST00000251879;ENST00000414202;ENST00000381532;ENST00000418622;ENST00000449720|ENST00000545641	.|.	.|.	.|.	5.89|5.89	5.89|5.89	0.94794|0.94794	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.72366|0.72366	0.3451|0.3451	M|M	0.63843|0.63843	1.955|1.955	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|.	0.76575|.	0.972;0.972;0.98;0.988|.	T|T	0.70974|0.70974	-0.4726|-0.4726	9|5	0.24483|.	T|.	0.36|.	-15.0596|-15.0596	16.3123|16.3123	0.82883|0.82883	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	489;526;605;605|.	B7ZM67;B2RN24;Q4ADV7;G5E932|.	.;.;RIC1_HUMAN;.|.	R|P	605;605;526;526;489|496	.|.	ENSP00000251879:C605R|.	C|L	+|+	1|2	0|0	KIAA1432|KIAA1432	5746332|5746332	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	7.698000|7.698000	0.84413|0.84413	2.254000|2.254000	0.74563|0.74563	0.459000|0.459000	0.35465|0.35465	TGT|CTG	.	.		0.378	KIAA1432-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051636.3		
RIC1	57589	hgsc.bcm.edu	37	9	5772583	5772583	+	Silent	SNP	T	T	C			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr9:5772583T>C	ENST00000414202.2	+	24	3827	c.3636T>C	c.(3634-3636)ggT>ggC	p.G1212G	KIAA1432_ENST00000418622.3_Silent_p.G1133G|KIAA1432_ENST00000449720.2_Silent_p.G1096G	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2														breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		GCAGTATTGGTTCAGCCACAG	0.393																																					p.G1212G		Atlas-SNP	.											.	KIAA1432	97	.	0			c.T3636C						.						131.0	119.0	123.0					9																	5772583		2203	4300	6503	SO:0001819	synonymous_variant	57589	exon24			TATTGGTTCAGCC																												ENST00000414202.2:c.3636T>C	chr9.hg19:g.5772583T>C		103.0	0.0		92.0	4.0	NM_020829		Silent	SNP	ENST00000414202.2	hg19	CCDS34982.2	.	.	.	.	.	.	.	.	.	.	T	9.659	1.143651	0.21205	.	.	ENSG00000107036	ENST00000545641	.	.	.	5.66	1.89	0.25635	.	.	.	.	.	T	0.51873	0.1700	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.36286	-0.9754	4	.	.	.	-17.5631	5.224	0.15383	0.0:0.1478:0.2903:0.5619	.	.	.	.	L	1104	.	.	F	+	1	0	KIAA1432	5762583	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.049000	0.30392	0.073000	0.16731	0.459000	0.35465	TTC	.	.		0.393	KIAA1432-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051636.3		
TTC39B	158219	hgsc.bcm.edu	37	9	15177727	15177727	+	Silent	SNP	T	T	C			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr9:15177727T>C	ENST00000512701.2	-	18	1845	c.1809A>G	c.(1807-1809)caA>caG	p.Q603Q	TTC39B_ENST00000355694.2_Silent_p.Q537Q|TTC39B_ENST00000380850.4_Silent_p.Q590Q|TTC39B_ENST00000507285.1_Silent_p.Q438Q|TTC39B_ENST00000297615.5_Silent_p.Q534Q|TTC39B_ENST00000507993.1_Silent_p.Q438Q			Q5VTQ0	TT39B_HUMAN	tetratricopeptide repeat domain 39B	603										NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)	21						ATAGTTCAGCTTGCAAGGGCC	0.398																																					p.Q603Q		Atlas-SNP	.											.	TTC39B	83	.	0			c.A1809G						.						141.0	125.0	131.0					9																	15177727		2203	4300	6503	SO:0001819	synonymous_variant	158219	exon18			TTCAGCTTGCAAG	AK091187	CCDS6477.1, CCDS6477.2, CCDS55294.1, CCDS55295.1, CCDS55296.1	9p22.2	2013-01-11	2008-06-23	2008-06-23	ENSG00000155158	ENSG00000155158		"""Tetratricopeptide (TTC) repeat domain containing"""	23704	protein-coding gene	gene with protein product		613574	"""chromosome 9 open reading frame 52"""	C9orf52			Standard	NM_001168339		Approved	FLJ33868	uc003zlr.2	Q5VTQ0	OTTHUMG00000019581	ENST00000512701.2:c.1809A>G	chr9.hg19:g.15177727T>C		111.0	0.0		80.0	4.0	NM_152574	A5PLN1|B4DQ10|B4DQX4|B4DW93|Q8IVR7|Q8IXZ6|Q8N267	Silent	SNP	ENST00000512701.2	hg19	CCDS6477.2																																																																																			.	.		0.398	TTC39B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051758.3	NM_152574	
CA9	768	hgsc.bcm.edu	37	9	35674185	35674185	+	Missense_Mutation	SNP	C	C	T	rs113670057		TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr9:35674185C>T	ENST00000378357.4	+	1	333	c.229C>T	c.(229-231)Cca>Tca	p.P77S	RN7SL22P_ENST00000471800.2_RNA	NM_001216.2	NP_001207.2	Q16790	CAH9_HUMAN	carbonic anhydrase IX	77	Proteoglycan-like (PG).				bicarbonate transport (GO:0015701)|cellular response to hypoxia (GO:0071456)|morphogenesis of an epithelium (GO:0002009)|one-carbon metabolic process (GO:0006730)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|response to drug (GO:0042493)|response to testosterone (GO:0033574)|secretion (GO:0046903)|small molecule metabolic process (GO:0044281)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(3)|lung(5)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	17	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		Benzthiazide(DB00562)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Zonisamide(DB00909)	AGAGGAGGATCCACCCGGAGA	0.562																																					p.P77S		Atlas-SNP	.											.	CA9	48	.	0			c.C229T						.						58.0	56.0	56.0					9																	35674185		2203	4300	6503	SO:0001583	missense	768	exon1			GAGGATCCACCCG	X66839	CCDS6585.1	9p13.3	2012-08-21			ENSG00000107159	ENSG00000107159		"""Carbonic anhydrases"""	1383	protein-coding gene	gene with protein product	"""carbonic dehydratase"", ""RCC-associated protein G250"""	603179				8661007, 9787087	Standard	NM_001216		Approved	MN, CAIX	uc003zxo.4	Q16790	OTTHUMG00000021029	ENST00000378357.4:c.229C>T	chr9.hg19:g.35674185C>T	ENSP00000367608:p.Pro77Ser	103.0	0.0		87.0	6.0	NM_001216	Q5T4R1	Missense_Mutation	SNP	ENST00000378357.4	hg19	CCDS6585.1	.	.	.	.	.	.	.	.	.	.	C	7.172	0.587818	0.13812	.	.	ENSG00000107159	ENST00000378357;ENST00000544074	T	0.62788	-0.0	3.48	-1.89	0.07689	.	.	.	.	.	T	0.39809	0.1092	N	0.20986	0.625	0.09310	N	1	B;B	0.14012	0.009;0.005	B;B	0.08055	0.003;0.001	T	0.13980	-1.0489	9	0.37606	T	0.19	.	3.0936	0.06302	0.3213:0.2582:0.0:0.4204	.	77;77	F5H404;Q16790	.;CAH9_HUMAN	S	77	ENSP00000367608:P77S	ENSP00000367608:P77S	P	+	1	0	CA9	35664185	0.000000	0.05858	0.000000	0.03702	0.034000	0.12701	-0.507000	0.06352	-0.820000	0.04318	0.655000	0.94253	CCA	.	C|0.500;T|0.500		0.562	CA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055479.1	NM_001216	
CA9	768	hgsc.bcm.edu	37	9	35674228	35674228	+	Missense_Mutation	SNP	G	G	A			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr9:35674228G>A	ENST00000378357.4	+	1	376	c.272G>A	c.(271-273)gGa>gAa	p.G91E	RN7SL22P_ENST00000471800.2_RNA	NM_001216.2	NP_001207.2	Q16790	CAH9_HUMAN	carbonic anhydrase IX	91	Proteoglycan-like (PG).				bicarbonate transport (GO:0015701)|cellular response to hypoxia (GO:0071456)|morphogenesis of an epithelium (GO:0002009)|one-carbon metabolic process (GO:0006730)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|response to drug (GO:0042493)|response to testosterone (GO:0033574)|secretion (GO:0046903)|small molecule metabolic process (GO:0044281)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(3)|lung(5)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	17	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		Benzthiazide(DB00562)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Zonisamide(DB00909)	GATCTACCTGGAGAGGAGGAT	0.537																																					p.G91E		Atlas-SNP	.											CA9,NS,carcinoma,0,2	CA9	48	.	0			c.G272A						.						61.0	55.0	57.0					9																	35674228		2203	4300	6503	SO:0001583	missense	768	exon1			TACCTGGAGAGGA	X66839	CCDS6585.1	9p13.3	2012-08-21			ENSG00000107159	ENSG00000107159		"""Carbonic anhydrases"""	1383	protein-coding gene	gene with protein product	"""carbonic dehydratase"", ""RCC-associated protein G250"""	603179				8661007, 9787087	Standard	NM_001216		Approved	MN, CAIX	uc003zxo.4	Q16790	OTTHUMG00000021029	ENST00000378357.4:c.272G>A	chr9.hg19:g.35674228G>A	ENSP00000367608:p.Gly91Glu	95.0	0.0		82.0	7.0	NM_001216	Q5T4R1	Missense_Mutation	SNP	ENST00000378357.4	hg19	CCDS6585.1	.	.	.	.	.	.	.	.	.	.	G	7.555	0.663537	0.14710	.	.	ENSG00000107159	ENST00000378357;ENST00000544074	T	0.62788	0.0	3.89	2.97	0.34412	.	.	.	.	.	T	0.43322	0.1242	N	0.17082	0.46	0.09310	N	1	B;B	0.25904	0.137;0.084	B;B	0.25884	0.064;0.029	T	0.34700	-0.9818	9	0.54805	T	0.06	.	6.3978	0.21622	0.2279:0.0:0.7721:0.0	.	91;91	F5H404;Q16790	.;CAH9_HUMAN	E	91	ENSP00000367608:G91E	ENSP00000367608:G91E	G	+	2	0	CA9	35664228	0.211000	0.23529	0.001000	0.08648	0.004000	0.04260	0.310000	0.19356	0.796000	0.33947	0.591000	0.81541	GGA	.	.		0.537	CA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055479.1	NM_001216	
ZCCHC7	84186	hgsc.bcm.edu	37	9	37357124	37357124	+	Silent	SNP	T	T	C			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr9:37357124T>C	ENST00000336755.5	+	9	1597	c.1491T>C	c.(1489-1491)cgT>cgC	p.R497R	ZCCHC7_ENST00000461038.1_3'UTR|ZCCHC7_ENST00000534928.1_Silent_p.R207R	NM_032226.2	NP_115602.2	Q8N3Z6	ZCHC7_HUMAN	zinc finger, CCHC domain containing 7	497						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	30				GBM - Glioblastoma multiforme(29;0.0137)		CCTTTCACCGTTCATCACATT	0.488																																					p.R497R		Atlas-SNP	.											.	ZCCHC7	56	.	0			c.T1491C						.						70.0	76.0	74.0					9																	37357124		2203	4300	6503	SO:0001819	synonymous_variant	84186	exon9			TCACCGTTCATCA	AK026264	CCDS6608.2	9p13.1	2008-05-02			ENSG00000147905	ENSG00000147905		"""Zinc fingers, CCHC domain containing"""	26209	protein-coding gene	gene with protein product							Standard	NM_032226		Approved	FLJ22611, AIR1	uc003zzq.3	Q8N3Z6	OTTHUMG00000019915	ENST00000336755.5:c.1491T>C	chr9.hg19:g.37357124T>C		152.0	0.0		95.0	4.0	NM_032226	B2RCI4|D3DRQ0|Q5T0Q8|Q5T0Q9|Q5T0R0|Q8N2M1|Q8N4J2|Q8TBK8|Q9H648|Q9P0F0	Silent	SNP	ENST00000336755.5	hg19	CCDS6608.2																																																																																			.	.		0.488	ZCCHC7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052453.2	NM_032226	
FRMPD1	22844	hgsc.bcm.edu	37	9	37740139	37740139	+	Silent	SNP	T	T	C			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr9:37740139T>C	ENST00000539465.1	+	15	2207	c.1614T>C	c.(1612-1614)ccT>ccC	p.P538P	FRMPD1_ENST00000536622.1_Silent_p.P360P|RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Silent_p.P538P|FRMPD1_ENST00000541302.1_Silent_p.P407P			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	538						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		TACTCGAACCTCTCTCTGACA	0.572																																					p.P538P		Atlas-SNP	.											.	FRMPD1	237	.	0			c.T1614C						.						76.0	82.0	80.0					9																	37740139		2203	4300	6503	SO:0001819	synonymous_variant	22844	exon15			CGAACCTCTCTCT	AB023184	CCDS6612.1	9p13.1	2008-02-05			ENSG00000070601	ENSG00000070601			29159	protein-coding gene	gene with protein product						10231032	Standard	NM_014907		Approved	KIAA0967, FRMD2	uc004aag.1	Q5SYB0	OTTHUMG00000019927	ENST00000539465.1:c.1614T>C	chr9.hg19:g.37740139T>C		83.0	0.0		99.0	5.0	NM_014907	B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Silent	SNP	ENST00000539465.1	hg19	CCDS6612.1																																																																																			.	.		0.572	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402969.1	NM_014907	
TRPM6	140803	hgsc.bcm.edu	37	9	77386643	77386643	+	Missense_Mutation	SNP	T	T	C			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr9:77386643T>C	ENST00000360774.1	-	25	3749	c.3512A>G	c.(3511-3513)gAa>gGa	p.E1171G	TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Missense_Mutation_p.E1166G|TRPM6_ENST00000449912.2_Missense_Mutation_p.E1166G|TRPM6_ENST00000451710.3_Missense_Mutation_p.E1171G|TRPM6_ENST00000376864.4_Missense_Mutation_p.E1171G	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1171					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						TCGGATTCGTTCCTCACAACT	0.373																																					p.E1171G		Atlas-SNP	.											.	TRPM6	377	.	0			c.A3512G						.						125.0	109.0	115.0					9																	77386643		2203	4300	6503	SO:0001583	missense	140803	exon25			ATTCGTTCCTCAC	AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.3512A>G	chr9.hg19:g.77386643T>C	ENSP00000354006:p.Glu1171Gly	80.0	0.0		88.0	4.0	NM_017662	Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	ENST00000360774.1	hg19	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	T	17.02	3.280949	0.59758	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000449912;ENST00000361255;ENST00000376864;ENST00000312449;ENST00000448641	T;T;T;T;T	0.55760	0.5;0.5;0.5;0.5;0.5	5.23	4.07	0.47477	.	0.233816	0.50627	D	0.000105	T	0.70150	0.3191	M	0.85859	2.78	0.46901	D	0.999242	P;D;P	0.55385	0.85;0.971;0.907	P;P;P	0.58721	0.589;0.844;0.767	T	0.74618	-0.3605	10	0.87932	D	0	.	12.2995	0.54866	0.0:0.0:0.1418:0.8582	.	1171;1166;1166	Q9BX84;Q9BX84-3;Q9BX84-2	TRPM6_HUMAN;.;.	G	1171;1171;1166;1166;1171;834;834	ENSP00000354006:E1171G;ENSP00000407341:E1171G;ENSP00000396672:E1166G;ENSP00000354962:E1166G;ENSP00000366060:E1171G	ENSP00000309693:E834G	E	-	2	0	TRPM6	76576463	1.000000	0.71417	0.164000	0.22755	0.473000	0.32948	3.960000	0.56752	0.808000	0.34231	-0.313000	0.08912	GAA	.	.		0.373	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662	
GNAQ	2776	hgsc.bcm.edu	37	9	80537112	80537112	+	Missense_Mutation	SNP	T	T	A			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr9:80537112T>A	ENST00000286548.4	-	2	508	c.286A>T	c.(286-288)Aca>Tca	p.T96S		NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	96					action potential (GO:0001508)|activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|developmental pigmentation (GO:0048066)|embryonic digit morphogenesis (GO:0042733)|forebrain neuron development (GO:0021884)|glutamate receptor signaling pathway (GO:0007215)|heart development (GO:0007507)|maternal behavior (GO:0042711)|negative regulation of protein kinase activity (GO:0006469)|neuron remodeling (GO:0016322)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|post-embryonic development (GO:0009791)|protein stabilization (GO:0050821)|regulation of catenin import into nucleus (GO:0035412)|regulation of melanocyte differentiation (GO:0045634)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.T96S(1)		NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						ATCTTGAGTGTGTCCATGGCT	0.473			Mis		uveal melanoma																																p.T96S		Atlas-SNP	.		Dom	yes		9	9q21	2776	"""guanine nucleotide binding protein (G protein), q polypeptide"""		E	GNAQ,NS,carcinoma,0,2	GNAQ	384	.	1	Substitution - Missense(1)	prostate(1)	c.A286T						.																																			SO:0001583	missense	2776	exon2			TGAGTGTGTCCAT		CCDS6658.1	9q21	2010-03-17			ENSG00000156052	ENSG00000156052			4390	protein-coding gene	gene with protein product		600998				8825633	Standard	NM_002072		Approved	G-ALPHA-q, GAQ	uc004akw.3	P50148	OTTHUMG00000020059	ENST00000286548.4:c.286A>T	chr9.hg19:g.80537112T>A	ENSP00000286548:p.Thr96Ser	139.0	1.0		156.0	8.0	NM_002072	O15108|Q13462|Q6NT27|Q92471|Q9BZB9	Missense_Mutation	SNP	ENST00000286548.4	hg19	CCDS6658.1	.	.	.	.	.	.	.	.	.	.	T	13.12	2.141103	0.37825	.	.	ENSG00000156052	ENST00000286548;ENST00000411677	D;D	0.87809	-2.3;-2.3	5.86	5.86	0.93980	G protein alpha subunit, helical insertion (2);	0.000000	0.85682	D	0.000000	D	0.84170	0.5413	L	0.52126	1.63	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.79122	-0.1933	10	0.29301	T	0.29	.	16.2652	0.82574	0.0:0.0:0.0:1.0	.	96	P50148	GNAQ_HUMAN	S	96;67	ENSP00000286548:T96S;ENSP00000391501:T67S	ENSP00000286548:T96S	T	-	1	0	GNAQ	79726932	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.145000	0.64839	2.241000	0.73720	0.528000	0.53228	ACA	.	.		0.473	GNAQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052761.1	NM_002072	
ZNF367	195828	hgsc.bcm.edu	37	9	99180148	99180148	+	Missense_Mutation	SNP	A	A	G			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr9:99180148A>G	ENST00000375256.4	-	1	463	c.167T>C	c.(166-168)cTc>cCc	p.L56P		NM_153695.3	NP_710162.1	Q7RTV3	ZN367_HUMAN	zinc finger protein 367	56	Pro-rich.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(4)|large_intestine(3)|lung(3)|prostate(1)	12		Acute lymphoblastic leukemia(62;0.0167)				GGTGGGGATGAGCGGCGGCGG	0.716																																					p.L56P		Atlas-SNP	.											.	ZNF367	27	.	0			c.T167C						.						5.0	7.0	6.0					9																	99180148		1985	3966	5951	SO:0001583	missense	195828	exon1			GGGATGAGCGGCG	AK091289	CCDS6718.1	9q22	2008-05-02			ENSG00000165244	ENSG00000165244		"""Zinc fingers, C2H2-type"""	18320	protein-coding gene	gene with protein product		610160					Standard	NM_153695		Approved	FLJ33970	uc004awf.3	Q7RTV3	OTTHUMG00000020295	ENST00000375256.4:c.167T>C	chr9.hg19:g.99180148A>G	ENSP00000364405:p.Leu56Pro	46.0	0.0		61.0	4.0	NM_153695	Q6Q7C8	Missense_Mutation	SNP	ENST00000375256.4	hg19	CCDS6718.1	.	.	.	.	.	.	.	.	.	.	A	12.87	2.068758	0.36470	.	.	ENSG00000165244	ENST00000375256	T	0.06294	3.32	4.0	2.81	0.32909	.	0.170472	0.39544	N	0.001338	T	0.03783	0.0107	N	0.25647	0.755	0.80722	D	1	B;B	0.11235	0.004;0.002	B;B	0.13407	0.009;0.004	T	0.45411	-0.9263	10	0.22706	T	0.39	-11.934	2.6294	0.04939	0.4982:0.2573:0.2444:0.0	.	56;56	Q7RTV3-2;Q7RTV3	.;ZN367_HUMAN	P	56	ENSP00000364405:L56P	ENSP00000364405:L56P	L	-	2	0	ZNF367	98219969	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	2.237000	0.43061	0.570000	0.29347	0.260000	0.18958	CTC	.	.		0.716	ZNF367-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053266.1		
RAD23B	5887	hgsc.bcm.edu	37	9	110064350	110064350	+	Silent	SNP	A	A	G			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr9:110064350A>G	ENST00000358015.3	+	3	534	c.183A>G	c.(181-183)gaA>gaG	p.E61E	RAD23B_ENST00000416373.2_5'UTR	NM_001244713.1|NM_002874.4	NP_001231642.1|NP_002865.1	P54727	RD23B_HUMAN	RAD23 homolog B (S. cerevisiae)	61	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.				DNA repair (GO:0006281)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage recognition (GO:0000715)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|XPC complex (GO:0071942)	damaged DNA binding (GO:0003684)|polyubiquitin binding (GO:0031593)|single-stranded DNA binding (GO:0003697)			breast(3)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						CTCTCAAAGAATATAAAATTG	0.294								Direct reversal of damage;Nucleotide excision repair (NER)																													p.E61E		Atlas-SNP	.											.	RAD23B	31	.	0			c.A183G						.						137.0	143.0	141.0					9																	110064350		2203	4298	6501	SO:0001819	synonymous_variant	5887	exon3			CAAAGAATATAAA		CCDS6769.1, CCDS59138.1	9q31.2	2008-07-21	2001-11-28		ENSG00000119318	ENSG00000119318			9813	protein-coding gene	gene with protein product	"""XP-C repair complementing protein"", ""XP-C repair complementing complex 58 kDa"""	600062	"""RAD23 (S. cerevisiae) homolog B"""			7851894, 8168482	Standard	NM_002874		Approved	HHR23B, P58, HR23B	uc004bde.3	P54727	OTTHUMG00000020446	ENST00000358015.3:c.183A>G	chr9.hg19:g.110064350A>G		118.0	0.0		87.0	4.0	NM_002874	B3KWK8|G5E9P0|Q7Z5K8|Q8WUB0	Silent	SNP	ENST00000358015.3	hg19	CCDS6769.1																																																																																			.	.		0.294	RAD23B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053548.1	NM_002874	
CTNNAL1	8727	hgsc.bcm.edu	37	9	111710491	111710491	+	Missense_Mutation	SNP	G	G	C			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr9:111710491G>C	ENST00000325551.4	-	15	1945	c.1859C>G	c.(1858-1860)tCc>tGc	p.S620C	CTNNAL1_ENST00000374595.4_Missense_Mutation_p.S620C|CTNNAL1_ENST00000325580.6_Missense_Mutation_p.S536C|FAM206A_ENST00000374624.3_Intron|CTNNAL1_ENST00000374594.1_Missense_Mutation_p.S21C	NM_003798.2	NP_003789.1	Q9UBT7	CTNL1_HUMAN	catenin (cadherin-associated protein), alpha-like 1	620					cell adhesion (GO:0007155)|Rho protein signal transduction (GO:0007266)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25				STAD - Stomach adenocarcinoma(157;0.0768)		TAAATCCTGGGAAGTTTTCAG	0.303																																					p.S620C		Atlas-SNP	.											CTNNAL1,mucosal,malignant_melanoma,0,1	CTNNAL1	51	.	0			c.C1859G						.						85.0	86.0	86.0					9																	111710491		2203	4300	6503	SO:0001583	missense	8727	exon15			TCCTGGGAAGTTT	AF030233	CCDS6775.1, CCDS69638.1	9q31.2	2008-07-21			ENSG00000119326	ENSG00000119326			2512	protein-coding gene	gene with protein product	"""alpha-catulin"", ""alpha2-catulin"""	604785				9806841	Standard	XM_005252291		Approved	CLLP, alpha-CATU	uc004bdo.1	Q9UBT7	OTTHUMG00000020466	ENST00000325551.4:c.1859C>G	chr9.hg19:g.111710491G>C	ENSP00000320434:p.Ser620Cys	22.0	0.0		27.0	2.0	NM_003798	B5BU47|O76084|Q53FQ2|Q5JTQ7|Q5JTQ8|Q9Y401	Missense_Mutation	SNP	ENST00000325551.4	hg19	CCDS6775.1	.	.	.	.	.	.	.	.	.	.	G	16.49	3.136741	0.56936	.	.	ENSG00000119326	ENST00000374595;ENST00000325551;ENST00000325580;ENST00000374594	T;T;T;T	0.47869	1.19;1.19;1.19;0.83	5.03	2.13	0.27403	.	0.202567	0.51477	N	0.000092	T	0.46112	0.1376	L	0.44542	1.39	0.20926	N	0.999822	P;B;P;P;P	0.47034	0.822;0.0;0.822;0.889;0.822	P;B;P;P;P	0.53722	0.733;0.003;0.733;0.69;0.733	T	0.36163	-0.9759	10	0.87932	D	0	-0.0012	3.7267	0.08477	0.0912:0.1651:0.5727:0.171	.	620;536;620;620;620	B2RBI4;Q9UBT7-3;B3KMX6;Q9UBT7-2;Q9UBT7	.;.;.;.;CTNL1_HUMAN	C	620;620;536;21	ENSP00000363723:S620C;ENSP00000320434:S620C;ENSP00000323351:S536C;ENSP00000363722:S21C	ENSP00000320434:S620C	S	-	2	0	CTNNAL1	110750312	1.000000	0.71417	0.993000	0.49108	0.941000	0.58515	4.832000	0.62759	0.149000	0.19098	-0.225000	0.12378	TCC	.	.		0.303	CTNNAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053577.1	NM_003798	
C9orf84	158401	hgsc.bcm.edu	37	9	114454237	114454237	+	Silent	SNP	T	T	C			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr9:114454237T>C	ENST00000318737.4	-	25	3956	c.3828A>G	c.(3826-3828)aaA>aaG	p.K1276K	C9orf84_ENST00000374287.3_Silent_p.K1276K|C9orf84_ENST00000394777.4_Silent_p.K1202K|C9orf84_ENST00000394779.3_Silent_p.K1237K	NM_173521.3	NP_775792.3	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	1276								p.N1275fs*10(1)|p.N1236fs*10(1)		breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						CCGATACATCTTTATTTATGA	0.378																																					p.K1276K		Atlas-SNP	.											C9orf84_ENST00000374287,NS,carcinoma,-2,2	C9orf84	207	.	2	Deletion - Frameshift(2)	large_intestine(2)	c.A3828G						.						58.0	56.0	57.0					9																	114454237		2203	4300	6503	SO:0001819	synonymous_variant	158401	exon25			TACATCTTTATTT	AL833535	CCDS6781.3, CCDS43863.1	9q32	2012-03-16			ENSG00000165181	ENSG00000165181			26535	protein-coding gene	gene with protein product							Standard	XM_005251738		Approved	FLJ32779	uc004bfr.3	Q5VXU9	OTTHUMG00000020495	ENST00000318737.4:c.3828A>G	chr9.hg19:g.114454237T>C		37.0	0.0		40.0	3.0	NM_173521	A2A2V3|Q2M1H8|Q96M73	Silent	SNP	ENST00000318737.4	hg19	CCDS6781.3																																																																																			.	.		0.378	C9orf84-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053656.2	NM_173521	
TTLL11	158135	hgsc.bcm.edu	37	9	124855592	124855592	+	Missense_Mutation	SNP	C	C	A			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr9:124855592C>A	ENST00000373776.3	-	1	293	c.106G>T	c.(106-108)Gcg>Tcg	p.A36S	TTLL11_ENST00000474723.1_5'Flank|TTLL11_ENST00000321582.5_Missense_Mutation_p.A36S	NM_194252.2	NP_919228.2	Q8NHH1	TTL11_HUMAN	tubulin tyrosine ligase-like family, member 11	36					cellular protein modification process (GO:0006464)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(3)|skin(1)	18						GCAGTCACCGCATCGAGACGG	0.706																																					p.A36S		Atlas-SNP	.											.	TTLL11	67	.	0			c.G106T						.						8.0	9.0	9.0					9																	124855592		1694	3121	4815	SO:0001583	missense	158135	exon1			TCACCGCATCGAG	AF521886	CCDS6834.2, CCDS48012.1	9q34.11	2013-02-14	2005-07-28	2005-07-28	ENSG00000175764	ENSG00000175764		"""Tubulin tyrosine ligase-like family"""	18113	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 20"""	C9orf20		15890843	Standard	NM_001139442		Approved	bA244O19.1	uc011lyl.2	Q8NHH1	OTTHUMG00000020597	ENST00000373776.3:c.106G>T	chr9.hg19:g.124855592C>A	ENSP00000362881:p.Ala36Ser	22.0	0.0		30.0	13.0	NM_001139442		Missense_Mutation	SNP	ENST00000373776.3	hg19	CCDS6834.2	.	.	.	.	.	.	.	.	.	.	C	12.77	2.037068	0.35893	.	.	ENSG00000175764	ENST00000321582;ENST00000373776	T;T	0.10099	3.09;2.91	4.47	3.54	0.40534	.	1.165150	0.06885	U	0.803240	T	0.06416	0.0165	N	0.08118	0	0.22996	N	0.998459	B;B	0.25105	0.115;0.118	B;B	0.22152	0.038;0.029	T	0.40646	-0.9552	9	.	.	.	.	9.3504	0.38133	0.2404:0.7596:0.0:0.0	.	36;36	F8W6M1;Q8NHH1	.;TTL11_HUMAN	S	36	ENSP00000321346:A36S;ENSP00000362881:A36S	.	A	-	1	0	TTLL11	123895413	1.000000	0.71417	0.989000	0.46669	0.220000	0.24768	1.213000	0.32407	1.017000	0.39495	0.561000	0.74099	GCG	.	.		0.706	TTLL11-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053907.1	XM_088486	
OR1B1	347169	hgsc.bcm.edu	37	9	125391426	125391426	+	Missense_Mutation	SNP	T	T	C			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr9:125391426T>C	ENST00000304833.3	-	1	426	c.389A>G	c.(388-390)gAc>gGc	p.D130G	RP11-64P14.7_ENST00000419604.1_RNA|RP11-64P14.7_ENST00000431442.1_RNA	NM_001004450.1	NP_001004450.1	Q8NGR6	OR1B1_HUMAN	olfactory receptor, family 1, subfamily B, member 1	130						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)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)	16						GTGCAGGGGGTCACAGATGGC	0.512																																					p.D130G		Atlas-SNP	.											.	OR1B1	48	.	0			c.A389G						.						103.0	85.0	91.0					9																	125391426		2203	4300	6503	SO:0001583	missense	347169	exon1			AGGGGGTCACAGA	AC006313	CCDS35126.1	9q33.2	2012-08-09			ENSG00000171484	ENSG00000171484		"""GPCR / Class A : Olfactory receptors"""	8181	protein-coding gene	gene with protein product							Standard	NM_001004450		Approved	OR9-B	uc011lyz.2	Q8NGR6	OTTHUMG00000020616	ENST00000304833.3:c.389A>G	chr9.hg19:g.125391426T>C	ENSP00000303151:p.Asp130Gly	48.0	0.0		75.0	4.0	NM_001004450	Q6IFN3	Missense_Mutation	SNP	ENST00000304833.3	hg19	CCDS35126.1	.	.	.	.	.	.	.	.	.	.	T	11.40	1.627860	0.28978	.	.	ENSG00000171484	ENST00000304833	T	0.01323	5.01	4.26	4.26	0.50523	GPCR, rhodopsin-like superfamily (1);	0.440723	0.19144	N	0.121609	T	0.01940	0.0061	L	0.38838	1.175	0.31666	N	0.644985	B	0.18013	0.025	B	0.23275	0.045	T	0.06463	-1.0825	10	0.87932	D	0	-4.1565	12.8487	0.57844	0.0:0.0:0.0:1.0	.	130	Q8NGR6	OR1B1_HUMAN	G	130	ENSP00000303151:D130G	ENSP00000303151:D130G	D	-	2	0	OR1B1	124431247	0.397000	0.25270	1.000000	0.80357	0.454000	0.32378	1.739000	0.38217	1.912000	0.55364	0.524000	0.50904	GAC	.	.		0.512	OR1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053947.2	NM_001004450	
PTGES2	80142	hgsc.bcm.edu	37	9	130887595	130887595	+	Silent	SNP	C	C	G			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr9:130887595C>G	ENST00000338961.6	-	2	1149	c.405G>C	c.(403-405)gtG>gtC	p.V135V	PTGES2_ENST00000483625.1_5'UTR|PTGES2_ENST00000277462.5_5'UTR	NM_001256335.1|NM_025072.6	NP_001243264.1|NP_079348.1	Q9H7Z7	PGES2_HUMAN	prostaglandin E synthase 2	135	Glutaredoxin. {ECO:0000255|PROSITE- ProRule:PRU00686}.				cell redox homeostasis (GO:0045454)|positive regulation of transcription, DNA-templated (GO:0045893)|prostaglandin biosynthetic process (GO:0001516)|secretion (GO:0046903)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|electron carrier activity (GO:0009055)|glutathione binding (GO:0043295)|heme binding (GO:0020037)|lyase activity (GO:0016829)|prostaglandin-E synthase activity (GO:0050220)|protein disulfide oxidoreductase activity (GO:0015035)			endometrium(1)|large_intestine(1)|lung(2)	4						CAGCCCTGCGCACAGGGTTCA	0.602																																					p.V135V		Atlas-SNP	.											.	PTGES2	14	.	0			c.G405C						.						78.0	64.0	68.0					9																	130887595		2203	4300	6503	SO:0001819	synonymous_variant	80142	exon2			CCTGCGCACAGGG	AK024100	CCDS6891.1	9q34.12	2008-05-06	2002-06-13	2002-06-14	ENSG00000148334	ENSG00000148334			17822	protein-coding gene	gene with protein product		608152	"""chromosome 9 open reading frame 15"""	C9orf15		11866447	Standard	NM_025072		Approved	FLJ14038	uc004bti.4	Q9H7Z7	OTTHUMG00000020730	ENST00000338961.6:c.405G>C	chr9.hg19:g.130887595C>G		96.0	0.0		122.0	54.0	NM_025072	Q53EW9|Q5SYV6|Q96GI0|Q96GL2	Silent	SNP	ENST00000338961.6	hg19	CCDS6891.1																																																																																			.	.		0.602	PTGES2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054339.1		
PTGES2	80142	hgsc.bcm.edu	37	9	130887600	130887600	+	Missense_Mutation	SNP	G	G	A			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr9:130887600G>A	ENST00000338961.6	-	2	1144	c.400C>T	c.(400-402)Cct>Tct	p.P134S	PTGES2_ENST00000483625.1_5'UTR|PTGES2_ENST00000277462.5_5'UTR	NM_001256335.1|NM_025072.6	NP_001243264.1|NP_079348.1	Q9H7Z7	PGES2_HUMAN	prostaglandin E synthase 2	134	Glutaredoxin. {ECO:0000255|PROSITE- ProRule:PRU00686}.				cell redox homeostasis (GO:0045454)|positive regulation of transcription, DNA-templated (GO:0045893)|prostaglandin biosynthetic process (GO:0001516)|secretion (GO:0046903)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|electron carrier activity (GO:0009055)|glutathione binding (GO:0043295)|heme binding (GO:0020037)|lyase activity (GO:0016829)|prostaglandin-E synthase activity (GO:0050220)|protein disulfide oxidoreductase activity (GO:0015035)			endometrium(1)|large_intestine(1)|lung(2)	4						CTGCGCACAGGGTTCACCTCC	0.612																																					p.P134S		Atlas-SNP	.											.	PTGES2	14	.	0			c.C400T						.						80.0	67.0	71.0					9																	130887600		2203	4300	6503	SO:0001583	missense	80142	exon2			GCACAGGGTTCAC	AK024100	CCDS6891.1	9q34.12	2008-05-06	2002-06-13	2002-06-14	ENSG00000148334	ENSG00000148334			17822	protein-coding gene	gene with protein product		608152	"""chromosome 9 open reading frame 15"""	C9orf15		11866447	Standard	NM_025072		Approved	FLJ14038	uc004bti.4	Q9H7Z7	OTTHUMG00000020730	ENST00000338961.6:c.400C>T	chr9.hg19:g.130887600G>A	ENSP00000345341:p.Pro134Ser	95.0	0.0		123.0	55.0	NM_025072	Q53EW9|Q5SYV6|Q96GI0|Q96GL2	Missense_Mutation	SNP	ENST00000338961.6	hg19	CCDS6891.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.503832	0.85176	.	.	ENSG00000148334	ENST00000338961;ENST00000449878	T;T	0.32515	1.45;2.48	4.88	3.98	0.46160	Glutaredoxin (2);Thioredoxin-like fold (2);	0.051838	0.85682	N	0.000000	T	0.53850	0.1822	M	0.74546	2.27	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.57676	-0.7770	10	0.72032	D	0.01	0.3231	12.2012	0.54326	0.083:0.0:0.917:0.0	.	134	Q9H7Z7	PGES2_HUMAN	S	134;99	ENSP00000345341:P134S;ENSP00000411378:P99S	ENSP00000345341:P134S	P	-	1	0	PTGES2	129927421	1.000000	0.71417	0.996000	0.52242	0.980000	0.70556	9.476000	0.97823	1.048000	0.40298	0.561000	0.74099	CCT	.	.		0.612	PTGES2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054339.1		
SLC27A4	10999	hgsc.bcm.edu	37	9	131105476	131105476	+	Missense_Mutation	SNP	G	G	C			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr9:131105476G>C	ENST00000300456.4	+	2	182	c.65G>C	c.(64-66)tGg>tCg	p.W22S	SLC27A4_ENST00000372870.1_Silent_p.L49L	NM_005094.3	NP_005085.2	Q6P1M0	S27A4_HUMAN	solute carrier family 27 (fatty acid transporter), member 4	22					fatty acid transport (GO:0015908)|lipid metabolic process (GO:0006629)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty acid transport (GO:0015909)|medium-chain fatty acid transport (GO:0001579)|response to nutrient (GO:0007584)|skin development (GO:0043588)|transmembrane transport (GO:0055085)|transport (GO:0006810)|very long-chain fatty acid catabolic process (GO:0042760)	brush border membrane (GO:0031526)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	fatty acid transporter activity (GO:0015245)|long-chain fatty acid-CoA ligase activity (GO:0004467)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)	13						AAACTGCCCTGGACCCAGGTG	0.582																																					p.W22S	Pancreas(107;1554 2241 10946 12953)	Atlas-SNP	.											.	SLC27A4	41	.	0			c.G65C						.						123.0	98.0	107.0					9																	131105476		2203	4300	6503	SO:0001583	missense	10999	exon2			TGCCCTGGACCCA	AF055899	CCDS6899.1	9q34.13	2013-05-22			ENSG00000167114	ENSG00000167114		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10998	protein-coding gene	gene with protein product		604194				9878842	Standard	NM_005094		Approved	FATP4, ACSVL4	uc004but.3	Q6P1M0	OTTHUMG00000020746	ENST00000300456.4:c.65G>C	chr9.hg19:g.131105476G>C	ENSP00000300456:p.Trp22Ser	256.0	1.0		337.0	163.0	NM_005094	A8K2F7|O95186|Q96G53	Missense_Mutation	SNP	ENST00000300456.4	hg19	CCDS6899.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.250123	0.80024	.	.	ENSG00000167114	ENST00000300456	T	0.49139	0.79	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.69504	0.3118	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.71609	-0.4541	10	0.52906	T	0.07	-16.4834	16.3322	0.83039	0.0:0.0:1.0:0.0	.	22	Q6P1M0	S27A4_HUMAN	S	22	ENSP00000300456:W22S	ENSP00000300456:W22S	W	+	2	0	SLC27A4	130145297	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.849000	0.86908	2.522000	0.85027	0.467000	0.42956	TGG	.	.		0.582	SLC27A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054432.2		
LRRC8A	56262	hgsc.bcm.edu	37	9	131670047	131670047	+	Missense_Mutation	SNP	A	A	G			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr9:131670047A>G	ENST00000259324.5	+	3	1127	c.604A>G	c.(604-606)Agt>Ggt	p.S202G	LRRC8A_ENST00000372599.3_Missense_Mutation_p.S202G|LRRC8A_ENST00000372600.4_Missense_Mutation_p.S202G	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	202					anion transport (GO:0006820)|cell volume homeostasis (GO:0006884)|pre-B cell differentiation (GO:0002329)|response to osmotic stress (GO:0006970)	cell surface (GO:0009986)|ion channel complex (GO:0034702)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						ATCGACCGTCAGTGAGGACGT	0.617																																					p.S202G		Atlas-SNP	.											.	LRRC8A	69	.	0			c.A604G						.						53.0	46.0	48.0					9																	131670047		2203	4300	6503	SO:0001583	missense	56262	exon3			ACCGTCAGTGAGG	AB037858	CCDS35155.1	9q34.2	2014-09-17	2005-06-29	2005-06-29	ENSG00000136802	ENSG00000136802			19027	protein-coding gene	gene with protein product		608360	"""leucine rich repeat containing 8"""	LRRC8			Standard	NM_001127244		Approved	KIAA1437, FLJ10337	uc010myp.3	Q8IWT6	OTTHUMG00000020766	ENST00000259324.5:c.604A>G	chr9.hg19:g.131670047A>G	ENSP00000259324:p.Ser202Gly	64.0	0.0		84.0	27.0	NM_001127244	Q6UXM2|Q8NCI0|Q9P2B1	Missense_Mutation	SNP	ENST00000259324.5	hg19	CCDS35155.1	.	.	.	.	.	.	.	.	.	.	A	9.854	1.194382	0.22037	.	.	ENSG00000136802	ENST00000372600;ENST00000372599;ENST00000259324	T;T;T	0.30182	1.54;1.54;1.54	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.31979	0.0814	M	0.61703	1.905	0.53005	D	0.999967	D	0.54964	0.969	B	0.40228	0.323	T	0.20773	-1.0265	10	0.48119	T	0.1	.	14.346	0.66665	1.0:0.0:0.0:0.0	.	202	Q8IWT6	LRC8A_HUMAN	G	202	ENSP00000361682:S202G;ENSP00000361680:S202G;ENSP00000259324:S202G	ENSP00000259324:S202G	S	+	1	0	LRRC8A	130709868	1.000000	0.71417	0.991000	0.47740	0.231000	0.25187	7.576000	0.82467	1.991000	0.58162	0.460000	0.39030	AGT	.	.		0.617	LRRC8A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054516.2	NM_019594	
UBAC1	10422	hgsc.bcm.edu	37	9	138836944	138836944	+	Missense_Mutation	SNP	T	T	G	rs66767056|rs140946801	byFrequency	TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr9:138836944T>G	ENST00000371756.3	-	7	1023	c.806A>C	c.(805-807)gAg>gCg	p.E269A	UBAC1_ENST00000465873.1_5'UTR	NM_016172.2	NP_057256.2	Q9BSL1	UBAC1_HUMAN	UBA domain containing 1	269				Missing (in Ref. 1; AAD51084). {ECO:0000305}.	protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)		p.E269delE(1)|p.E269fs*6(1)		NS(1)|biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	25		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.1e-06)|Epithelial(140;7.79e-06)		ATCTCTGGCCTCCTCATCGGT	0.622																																					p.E269A	NSCLC(78;973 1398 27381 29552 42415)	Atlas-SNP	.											.,1	UBAC1	40	.	2	Deletion - Frameshift(1)|Deletion - In frame(1)	stomach(1)|kidney(1)	c.A806C						.						123.0	88.0	100.0					9																	138836944		2203	4296	6499	SO:0001583	missense	10422	exon7			CTGGCCTCCTCAT	AF176796	CCDS35177.1	9q34.3	2008-02-05	2007-04-20	2007-04-20	ENSG00000130560	ENSG00000130560			30221	protein-coding gene	gene with protein product		608129	"""ubiquitin associated domain containing 1"""	UBADC1		10857748, 8619474	Standard	NM_016172		Approved	GBDR1	uc004cgt.3	Q9BSL1	OTTHUMG00000020920	ENST00000371756.3:c.806A>C	chr9.hg19:g.138836944T>G	ENSP00000360821:p.Glu269Ala	1.0	0.0		21.0	6.0	NM_016172	O75500|Q9UMW7	Missense_Mutation	SNP	ENST00000371756.3	hg19	CCDS35177.1	.	.	.	.	.	.	.	.	.	.	T	13.95	2.388710	0.42308	.	.	ENSG00000130560	ENST00000371756	T	0.26373	1.74	5.38	5.38	0.77491	.	0.419347	0.25786	N	0.028305	T	0.24890	0.0604	L	0.52364	1.645	0.51767	D	0.999939	B	0.30741	0.293	B	0.27608	0.081	T	0.02991	-1.1085	10	0.30854	T	0.27	-40.5679	14.5777	0.68262	0.0:0.0:0.0:1.0	.	269	Q9BSL1	UBAC1_HUMAN	A	269	ENSP00000360821:E269A	ENSP00000360821:E269A	E	-	2	0	UBAC1	137976765	1.000000	0.71417	0.978000	0.43139	0.513000	0.34164	6.970000	0.76099	2.038000	0.60285	0.533000	0.62120	GAG	.	.		0.622	UBAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055034.1	NM_016172	
SEC16A	9919	hgsc.bcm.edu	37	9	139368633	139368633	+	Silent	SNP	A	A	G			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr9:139368633A>G	ENST00000371706.3	-	1	2934	c.2901T>C	c.(2899-2901)ccT>ccC	p.P967P	SEC16A_ENST00000431893.2_Silent_p.P967P|SEC16A_ENST00000290037.6_Silent_p.P967P|SEC16A_ENST00000313050.7_Silent_p.P1145P			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	967	Pro-rich.|Required for endoplasmic reticulum localization.				COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|protein transport (GO:0015031)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		GGGCAAGTGCAGGCACTGGCT	0.657																																					p.P1145P		Atlas-SNP	.											.	SEC16A	249	.	0			c.T3435C						.						27.0	33.0	31.0					9																	139368633		2052	4182	6234	SO:0001819	synonymous_variant	9919	exon3			AAGTGCAGGCACT	AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396			29006	protein-coding gene	gene with protein product		612854	"""KIAA0310"""	KIAA0310		9205841	Standard	NM_014866		Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000371706.3:c.2901T>C	chr9.hg19:g.139368633A>G		74.0	0.0		96.0	4.0	NM_014866	A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Silent	SNP	ENST00000371706.3	hg19																																																																																				.	.		0.657	SEC16A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000055077.1	XM_088459	
DPP7	29952	hgsc.bcm.edu	37	9	140008791	140008791	+	Silent	SNP	A	A	G			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr9:140008791A>G	ENST00000371579.2	-	3	229	c.225T>C	c.(223-225)acT>acC	p.T75T		NM_013379.2	NP_037511.2	Q9UHL4	DPP2_HUMAN	dipeptidyl-peptidase 7	75						cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;4.25e-05)|Epithelial(140;0.000633)		CCTCGTTCCCAGTGTAGAAGA	0.726																																					p.T75T		Atlas-SNP	.											.	DPP7	22	.	0			c.T225C						.						9.0	11.0	10.0					9																	140008791		2111	4150	6261	SO:0001819	synonymous_variant	29952	exon3			GTTCCCAGTGTAG	AF154502	CCDS7030.1	9q34.3	2008-02-05	2006-01-12		ENSG00000176978	ENSG00000176978			14892	protein-coding gene	gene with protein product		610537	"""dipeptidylpeptidase 7"""			10477574, 11139392	Standard	XM_005266075		Approved	DPPII	uc004clh.3	Q9UHL4	OTTHUMG00000020977	ENST00000371579.2:c.225T>C	chr9.hg19:g.140008791A>G		33.0	0.0		34.0	4.0	NM_013379	A8K7U7|Q5VSF1|Q969X4	Silent	SNP	ENST00000371579.2	hg19	CCDS7030.1	.	.	.	.	.	.	.	.	.	.	A	4.725	0.134791	0.09032	.	.	ENSG00000176978	ENST00000443858	.	.	.	4.04	-8.09	0.01090	.	.	.	.	.	T	0.41971	0.1182	.	.	.	0.51012	D	0.999907	B	0.02656	0.0	B	0.01281	0.0	T	0.44112	-0.9349	7	0.87932	D	0	-14.8968	6.7544	0.23505	0.0925:0.1216:0.5589:0.227	.	99	E7EQS4	.	R	99	.	ENSP00000413492:W99R	W	-	1	0	DPP7	139128612	0.002000	0.14202	0.022000	0.16811	0.278000	0.26855	-2.110000	0.01334	-4.177000	0.00067	-1.251000	0.01509	TGG	.	.		0.726	DPP7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055279.1	NM_013379	
DNAJC1	64215	hgsc.bcm.edu	37	10	22209794	22209794	+	Missense_Mutation	SNP	A	A	G	rs375039357		TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr10:22209794A>G	ENST00000376980.3	-	4	760	c.470T>C	c.(469-471)cTc>cCc	p.L157P	DNAJC1_ENST00000376946.1_3'UTR	NM_022365.3	NP_071760.2	Q96KC8	DNJC1_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 1	157					negative regulation of proteolysis (GO:0045861)|positive regulation of ATPase activity (GO:0032781)|protein folding (GO:0006457)|regulation of protein secretion (GO:0050708)|regulation of translation (GO:0006417)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ATPase activator activity (GO:0001671)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)			cervix(1)|endometrium(1)|large_intestine(2)|lung(13)|skin(2)|upper_aerodigestive_tract(2)	21		Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262)				AATGAACAAGAGTAATGCCAG	0.408																																					p.L157P		Atlas-SNP	.											.	DNAJC1	42	.	0			c.T470C						.						115.0	114.0	114.0					10																	22209794		2203	4300	6503	SO:0001583	missense	64215	exon4			AACAAGAGTAATG	AK026062	CCDS7136.1	10p11.23	2011-09-02			ENSG00000136770	ENSG00000136770		"""Heat shock proteins / DNAJ (HSP40)"""	20090	protein-coding gene	gene with protein product		611207					Standard	NM_022365		Approved	DNAJL1, ERdj1, MTJ1	uc001irc.3	Q96KC8	OTTHUMG00000017800	ENST00000376980.3:c.470T>C	chr10.hg19:g.22209794A>G	ENSP00000366179:p.Leu157Pro	83.0	0.0		78.0	4.0	NM_022365	B0YIZ8|Q5VX89|Q9H6B8	Missense_Mutation	SNP	ENST00000376980.3	hg19	CCDS7136.1	.	.	.	.	.	.	.	.	.	.	A	18.95	3.732126	0.69189	.	.	ENSG00000136770	ENST00000376980	T	0.47869	0.83	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.68467	0.3004	M	0.74258	2.255	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.70414	-0.4878	10	0.48119	T	0.1	-3.9148	15.5555	0.76189	1.0:0.0:0.0:0.0	.	157	Q96KC8	DNJC1_HUMAN	P	157	ENSP00000366179:L157P	ENSP00000366179:L157P	L	-	2	0	DNAJC1	22249800	1.000000	0.71417	0.997000	0.53966	0.947000	0.59692	9.232000	0.95325	2.132000	0.65825	0.460000	0.39030	CTC	.	.		0.408	DNAJC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047149.1	NM_022365	
BMI1	648	hgsc.bcm.edu	37	10	22618054	22618054	+	Silent	SNP	A	A	G			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr10:22618054A>G	ENST00000376663.3	+	9	1153	c.648A>G	c.(646-648)agA>agG	p.R216R	COMMD3-BMI1_ENST00000602390.1_Silent_p.R359R	NM_005180.8	NP_005171.4	P35226	BMI1_HUMAN	BMI1 proto-oncogene, polycomb ring finger	216	Interaction with E4F1.				chromatin modification (GO:0016568)|hemopoiesis (GO:0030097)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|regulation of gene expression (GO:0010468)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|ubiquitin ligase complex (GO:0000151)	RING-like zinc finger domain binding (GO:0071535)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|urinary_tract(1)	12						ATACCTGGAGAAGGGTAAGTA	0.284																																					p.R359R		Atlas-SNP	.											.	.	.	.	0			c.A1077G						.						104.0	122.0	116.0					10																	22618054		2199	4287	6486	SO:0001819	synonymous_variant	0	exon13			CTGGAGAAGGGTA	BC011652	CCDS7138.1	10p13	2014-06-26	2014-06-26	2006-04-26	ENSG00000168283	ENSG00000168283		"""RING-type (C3HC4) zinc fingers"", ""Polycomb group ring fingers"""	1066	protein-coding gene	gene with protein product		164831	"""polycomb group ring finger 4"", ""B lymphoma Mo-MLV insertion region 1 homolog (mouse)"""	PCGF4		8268912	Standard	NM_005180		Approved	RNF51		P35226	OTTHUMG00000017807	ENST00000376663.3:c.648A>G	chr10.hg19:g.22618054A>G		53.0	0.0		53.0	4.0	NM_001204062	Q16030|Q5T8Z3|Q96F37	Silent	SNP	ENST00000376663.3	hg19	CCDS7138.1																																																																																			.	.		0.284	BMI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047176.1	NM_005180	
KIAA1217	56243	hgsc.bcm.edu	37	10	24669829	24669829	+	Missense_Mutation	SNP	A	A	G			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr10:24669829A>G	ENST00000376454.3	+	3	416	c.386A>G	c.(385-387)cAa>cGa	p.Q129R	KIAA1217_ENST00000458595.1_Missense_Mutation_p.Q129R|KIAA1217_ENST00000376452.3_Missense_Mutation_p.Q129R|KIAA1217_ENST00000376462.1_Missense_Mutation_p.Q49R|KIAA1217_ENST00000430453.2_Missense_Mutation_p.Q50R	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	129					embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CACAGTCCTCAACCACCCAGT	0.468																																					p.Q129R		Atlas-SNP	.											.	KIAA1217	235	.	0			c.A386G						.						72.0	77.0	76.0					10																	24669829		2203	4300	6503	SO:0001583	missense	56243	exon3			GTCCTCAACCACC	BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"""sickle tail"""					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.386A>G	chr10.hg19:g.24669829A>G	ENSP00000365637:p.Gln129Arg	58.0	0.0		69.0	4.0	NM_019590	A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Missense_Mutation	SNP	ENST00000376454.3	hg19	CCDS31165.1	.	.	.	.	.	.	.	.	.	.	A	24.5	4.534638	0.85812	.	.	ENSG00000120549	ENST00000376462;ENST00000376456;ENST00000458595;ENST00000376454;ENST00000376452;ENST00000430453	T;D;T;T;T;T	0.94576	1.31;-3.46;1.3;1.68;1.3;0.7	5.54	5.54	0.83059	.	0.179385	0.49305	D	0.000153	D	0.96907	0.8990	M	0.75777	2.31	0.53005	D	0.999964	D;D;D;D	0.76494	0.996;0.968;0.999;0.993	D;P;D;D	0.75484	0.986;0.504;0.964;0.91	D	0.97456	1.0031	10	0.72032	D	0.01	.	15.6685	0.77255	1.0:0.0:0.0:0.0	.	129;129;129;129	Q5T5P2-7;A6NLF3;Q5T5P2;Q5T5P2-2	.;.;SKT_HUMAN;.	R	49;129;129;129;129;50	ENSP00000365645:Q49R;ENSP00000365639:Q129R;ENSP00000392625:Q129R;ENSP00000365637:Q129R;ENSP00000365635:Q129R;ENSP00000389680:Q50R	ENSP00000365635:Q129R	Q	+	2	0	KIAA1217	24709835	1.000000	0.71417	0.991000	0.47740	0.880000	0.50808	6.281000	0.72632	2.114000	0.64651	0.482000	0.46254	CAA	.	.		0.468	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	NM_019590	
ANKRD26	22852	hgsc.bcm.edu	37	10	27294602	27294602	+	Missense_Mutation	SNP	C	C	T			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr10:27294602C>T	ENST00000376087.4	-	34	5215	c.5050G>A	c.(5050-5052)Gat>Aat	p.D1684N	ANKRD26_ENST00000436985.2_Missense_Mutation_p.D1700N|ANKRD26_ENST00000376070.3_Missense_Mutation_p.D1241N	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	1683					glucose homeostasis (GO:0042593)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of organ growth (GO:0046621)|regulation of fatty acid metabolic process (GO:0019217)|regulation of feeding behavior (GO:0060259)	actin filament (GO:0005884)|centrosome (GO:0005813)				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						TTTGACTCATCAGTAGACCCT	0.308																																					p.D1684N		Atlas-SNP	.											.	ANKRD26	179	.	0			c.G5050A						.						86.0	84.0	85.0					10																	27294602		1805	4069	5874	SO:0001583	missense	22852	exon34			ACTCATCAGTAGA	AB028997	CCDS41499.1	10p12.1	2014-09-17			ENSG00000107890	ENSG00000107890		"""Ankyrin repeat domain containing"""	29186	protein-coding gene	gene with protein product		610855	"""thrombocytopenia 2 (autosomal dominant)"""	THC2		10470851, 21211618	Standard	NM_014915		Approved	KIAA1074	uc009xku.1	Q9UPS8	OTTHUMG00000017851	ENST00000376087.4:c.5050G>A	chr10.hg19:g.27294602C>T	ENSP00000365255:p.Asp1684Asn	114.0	0.0		91.0	4.0	NM_014915	A6NH29|Q2TAZ3|Q6ZR14|Q9H1Q1|Q9NSK9|Q9NTD5|Q9NW69	Missense_Mutation	SNP	ENST00000376087.4	hg19	CCDS41499.1	.	.	.	.	.	.	.	.	.	.	C	11.93	1.786773	0.31593	.	.	ENSG00000107890	ENST00000376070;ENST00000376087;ENST00000436985	T;T;T	0.29917	4.03;1.55;1.56	4.88	-1.63	0.08345	.	.	.	.	.	T	0.28599	0.0708	M	0.65498	2.005	0.09310	N	1	B;B;B	0.16396	0.017;0.01;0.002	B;B;B	0.13407	0.009;0.004;0.003	T	0.27806	-1.0063	9	0.33141	T	0.24	.	9.1304	0.36841	0.0:0.3868:0.0:0.6131	.	1684;1683;1700	Q9UPS8-3;Q9UPS8;A1L497	.;ANR26_HUMAN;.	N	1241;1684;1700	ENSP00000365238:D1241N;ENSP00000365255:D1684N;ENSP00000405112:D1700N	ENSP00000365238:D1241N	D	-	1	0	ANKRD26	27334608	0.000000	0.05858	0.000000	0.03702	0.435000	0.31806	-0.251000	0.08818	-0.564000	0.06070	0.313000	0.20887	GAT	.	.		0.308	ANKRD26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047296.1		
RET	5979	hgsc.bcm.edu	37	10	43610012	43610012	+	Missense_Mutation	SNP	T	T	C			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr10:43610012T>C	ENST00000355710.3	+	11	2196	c.1964T>C	c.(1963-1965)tTc>tCc	p.F655S	RET_ENST00000340058.5_Missense_Mutation_p.F655S	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	655					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657)	endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	CTGTCTGCCTTCTGCATCCAC	0.627		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma																												p.F655S	Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	Atlas-SNP	.	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	ret proto-oncogene	yes	"""E, O"""	.	RET	916	.	0			c.T1964C						.						186.0	118.0	141.0					10																	43610012		2203	4300	6503	SO:0001583	missense	5979	exon11	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	CTGCCTTCTGCAT	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731		"""Cadherins / Cadherin-related"""	9967	protein-coding gene	gene with protein product	"""cadherin-related family member 16"""	164761	"""multiple endocrine neoplasia and medullary thyroid carcinoma 1"", ""Hirschsprung disease 1"""	HSCR1, MEN2A, MTC1, MEN2B		2687772, 1611909	Standard	NM_020975		Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.1964T>C	chr10.hg19:g.43610012T>C	ENSP00000347942:p.Phe655Ser	101.0	0.0		95.0	4.0	NM_020630	A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Missense_Mutation	SNP	ENST00000355710.3	hg19	CCDS7200.1	.	.	.	.	.	.	.	.	.	.	T	17.05	3.289135	0.59976	.	.	ENSG00000165731	ENST00000355710;ENST00000498820;ENST00000340058	T;D;T	0.98914	-1.24;-5.23;-1.36	4.85	3.65	0.41850	.	0.104953	0.64402	D	0.000002	D	0.96962	0.9008	L	0.55481	1.735	0.41743	D	0.989626	B;P;P	0.40875	0.282;0.611;0.731	B;B;P	0.44518	0.205;0.265;0.452	D	0.95033	0.8171	10	0.28530	T	0.3	.	7.8551	0.29478	0.3801:0.0:0.0:0.6199	.	401;655;655	B4DGX8;P07949;P07949-2	.;RET_HUMAN;.	S	655;172;655	ENSP00000347942:F655S;ENSP00000419080:F172S;ENSP00000344798:F655S	ENSP00000344798:F655S	F	+	2	0	RET	42930018	1.000000	0.71417	1.000000	0.80357	0.830000	0.47004	5.393000	0.66279	2.038000	0.60285	0.379000	0.24179	TTC	.	.		0.627	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047694.2	NM_020975	
SIRT1	23411	hgsc.bcm.edu	37	10	69666641	69666641	+	Missense_Mutation	SNP	A	A	G			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr10:69666641A>G	ENST00000212015.6	+	5	1090	c.1037A>G	c.(1036-1038)aAc>aGc	p.N346S	SIRT1_ENST00000432464.1_Missense_Mutation_p.N51S|SIRT1_ENST00000403579.1_Missense_Mutation_p.N43S|SIRT1_ENST00000406900.1_Missense_Mutation_p.N43S	NM_012238.4	NP_036370.2	Q96EB6	SIR1_HUMAN	sirtuin 1	346	Deacetylase sirtuin-type. {ECO:0000255|PROSITE-ProRule:PRU00236}.|Interaction with CCAR2.				angiogenesis (GO:0001525)|cell aging (GO:0007569)|cellular glucose homeostasis (GO:0001678)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to starvation (GO:0009267)|cellular response to tumor necrosis factor (GO:0071356)|cellular triglyceride homeostasis (GO:0035356)|cholesterol homeostasis (GO:0042632)|chromatin organization (GO:0006325)|chromatin silencing (GO:0006342)|chromatin silencing at rDNA (GO:0000183)|circadian regulation of gene expression (GO:0032922)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|establishment of chromatin silencing (GO:0006343)|fatty acid homeostasis (GO:0055089)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of chromatin silencing (GO:0006344)|methylation-dependent chromatin silencing (GO:0006346)|muscle organ development (GO:0007517)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|negative regulation of cell growth (GO:0030308)|negative regulation of cellular response to testosterone stimulus (GO:2000655)|negative regulation of cellular senescence (GO:2000773)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of helicase activity (GO:0051097)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of neuron death (GO:1901215)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of peptidyl-lysine acetylation (GO:2000757)|negative regulation of phosphorylation (GO:0042326)|negative regulation of prostaglandin biosynthetic process (GO:0031393)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|ovulation from ovarian follicle (GO:0001542)|peptidyl-lysine acetylation (GO:0018394)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular senescence (GO:2000774)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of chromatin silencing (GO:0031937)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of DNA repair (GO:0045739)|positive regulation of histone H3-K9 methylation (GO:0051574)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of macroautophagy (GO:0016239)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein deacetylation (GO:0006476)|protein destabilization (GO:0031648)|protein ubiquitination (GO:0016567)|pyrimidine dimer repair by nucleotide-excision repair (GO:0000720)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of cell proliferation (GO:0042127)|regulation of endodeoxyribonuclease activity (GO:0032071)|regulation of glucose metabolic process (GO:0010906)|regulation of mitotic cell cycle (GO:0007346)|regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035358)|regulation of protein import into nucleus, translocation (GO:0033158)|regulation of smooth muscle cell apoptotic process (GO:0034391)|response to hydrogen peroxide (GO:0042542)|response to insulin (GO:0032868)|response to oxidative stress (GO:0006979)|rRNA processing (GO:0006364)|single strand break repair (GO:0000012)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)|triglyceride mobilization (GO:0006642)|viral process (GO:0016032)|white fat cell differentiation (GO:0050872)	chromatin silencing complex (GO:0005677)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear envelope (GO:0005635)|nuclear euchromatin (GO:0005719)|nuclear heterochromatin (GO:0005720)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|rDNA heterochromatin (GO:0033553)	bHLH transcription factor binding (GO:0043425)|deacetylase activity (GO:0019213)|enzyme binding (GO:0019899)|histone binding (GO:0042393)|histone deacetylase activity (GO:0004407)|HLH domain binding (GO:0043398)|identical protein binding (GO:0042802)|keratin filament binding (GO:1990254)|metal ion binding (GO:0046872)|mitogen-activated protein kinase binding (GO:0051019)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (GO:0017136)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent protein deacetylase activity (GO:0034979)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|protein deacetylase activity (GO:0033558)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	14						TATACCCAGAACATAGACACG	0.378																																					p.N346S		Atlas-SNP	.											.	SIRT1	38	.	0			c.A1037G						.						91.0	93.0	92.0					10																	69666641		2203	4300	6503	SO:0001583	missense	23411	exon5			CCCAGAACATAGA	AF083106	CCDS7273.1, CCDS44412.1	10q21	2010-06-25	2010-06-25		ENSG00000096717	ENSG00000096717			14929	protein-coding gene	gene with protein product		604479	"""sirtuin (silent mating type information regulation 2, S. cerevisiae, homolog) 1"", ""sirtuin (silent mating type information regulation 2 homolog) 1 (S. cerevisiae)"""			10381378	Standard	NM_012238		Approved	SIR2L1	uc001jnd.3	Q96EB6	OTTHUMG00000018340	ENST00000212015.6:c.1037A>G	chr10.hg19:g.69666641A>G	ENSP00000212015:p.Asn346Ser	137.0	0.0		97.0	4.0	NM_012238	Q2XNF6|Q5JVQ0|Q9GZR9|Q9Y6F0	Missense_Mutation	SNP	ENST00000212015.6	hg19	CCDS7273.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.084144	0.76642	.	.	ENSG00000096717	ENST00000212015;ENST00000432464;ENST00000406900;ENST00000403579	T;T;T;T	0.59224	0.28;0.28;0.28;0.28	5.2	4.06	0.47325	.	0.000000	0.85682	D	0.000000	D	0.85522	0.5716	H	0.99705	4.715	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.88266	0.2926	10	0.87932	D	0	-13.129	10.4572	0.44557	0.9219:0.0:0.0781:0.0	.	43;346	B0QZ35;Q96EB6	.;SIRT1_HUMAN	S	346;51;43;43	ENSP00000212015:N346S;ENSP00000409208:N51S;ENSP00000384508:N43S;ENSP00000384063:N43S	ENSP00000212015:N346S	N	+	2	0	SIRT1	69336647	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	8.888000	0.92464	0.814000	0.34374	0.477000	0.44152	AAC	.	.		0.378	SIRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048296.1		
TYSND1	219743	hgsc.bcm.edu	37	10	71905706	71905706	+	Missense_Mutation	SNP	C	C	T			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr10:71905706C>T	ENST00000287078.6	-	1	636	c.637G>A	c.(637-639)Gtg>Atg	p.V213M	TYSND1_ENST00000494143.1_5'Flank|TYSND1_ENST00000335494.5_Missense_Mutation_p.V213M	NM_173555.2	NP_775826.2	Q2T9J0	TYSD1_HUMAN	trypsin domain containing 1	213					protein homooligomerization (GO:0051260)|protein processing (GO:0016485)|proteolysis (GO:0006508)|regulation of fatty acid beta-oxidation (GO:0031998)	membrane (GO:0016020)|peroxisome (GO:0005777)	identical protein binding (GO:0042802)|protease binding (GO:0002020)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|large_intestine(2)|liver(1)|lung(3)|prostate(1)	9						CCCTTGGGCACGGCCCCGAGA	0.692																																					p.V213M		Atlas-SNP	.											.	TYSND1	20	.	0			c.G637A						.						12.0	14.0	13.0					10																	71905706		2155	4213	6368	SO:0001583	missense	219743	exon1			TGGGCACGGCCCC	BC016840	CCDS31213.1, CCDS31214.1	10q22.1	2009-11-06		2006-09-21	ENSG00000156521	ENSG00000156521			28531	protein-coding gene	gene with protein product		611017				17255948	Standard	NM_173555		Approved	MGC34695, NET41	uc001jqr.4	Q2T9J0	OTTHUMG00000018397	ENST00000287078.6:c.637G>A	chr10.hg19:g.71905706C>T	ENSP00000287078:p.Val213Met	44.0	0.0		95.0	4.0	NM_173555	Q5SQT4|Q5SQU1|Q8N6H2|Q96AR5	Missense_Mutation	SNP	ENST00000287078.6	hg19	CCDS31213.1	.	.	.	.	.	.	.	.	.	.	C	11.35	1.613406	0.28712	.	.	ENSG00000156521	ENST00000287078;ENST00000335494	T;T	0.58060	0.36;0.36	3.15	3.15	0.36227	.	0.234002	0.36234	N	0.002717	T	0.52933	0.1765	L	0.44542	1.39	0.30467	N	0.773686	B;D	0.71674	0.411;0.998	B;P	0.58520	0.057;0.84	T	0.54846	-0.8232	10	0.59425	D	0.04	-14.0618	4.7328	0.12974	0.0:0.6504:0.2256:0.124	.	213;213	Q2T9J0-2;Q2T9J0	.;TYSD1_HUMAN	M	213	ENSP00000287078:V213M;ENSP00000335673:V213M	ENSP00000287078:V213M	V	-	1	0	TYSND1	71575712	0.722000	0.28017	0.838000	0.33150	0.546000	0.35178	-0.076000	0.11412	2.045000	0.60652	0.313000	0.20887	GTG	.	.		0.692	TYSND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048483.1	NM_173555	
FAM149B1	317662	hgsc.bcm.edu	37	10	74992815	74992815	+	Missense_Mutation	SNP	A	A	G			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr10:74992815A>G	ENST00000242505.6	+	10	1420	c.1246A>G	c.(1246-1248)Acc>Gcc	p.T416A		NM_173348.1	NP_775483.1	Q96BN6	F149B_HUMAN	family with sequence similarity 149, member B1	416										breast(2)|endometrium(1)|kidney(1)|stomach(3)	7						AGTGCAGTCCACCAGGAGACG	0.493																																					p.T416A		Atlas-SNP	.											.	FAM149B1	26	.	0			c.A1246G						.						114.0	86.0	95.0					10																	74992815		692	1591	2283	SO:0001583	missense	317662	exon10			CAGTCCACCAGGA	AB023191	CCDS44435.1	10q22.2	2008-10-27	2007-11-14	2007-11-14	ENSG00000138286	ENSG00000138286			29162	protein-coding gene	gene with protein product			"""KIAA0974"""	KIAA0974		10231032	Standard	NM_173348		Approved		uc009xqz.3	Q96BN6	OTTHUMG00000067794	ENST00000242505.6:c.1246A>G	chr10.hg19:g.74992815A>G	ENSP00000242505:p.Thr416Ala	101.0	0.0		99.0	4.0	NM_173348	Q9Y2I0	Missense_Mutation	SNP	ENST00000242505.6	hg19	CCDS44435.1	.	.	.	.	.	.	.	.	.	.	A	0.420	-0.908735	0.02434	.	.	ENSG00000138286	ENST00000242505;ENST00000429173;ENST00000445951	T;T	0.42513	0.97;0.97	5.92	0.198	0.15168	.	0.394822	0.30051	N	0.010523	T	0.06781	0.0173	N	0.00182	-1.905	0.58432	D	0.999991	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.20907	-1.0261	10	0.06494	T	0.89	-14.468	1.4439	0.02360	0.2684:0.1402:0.4469:0.1445	.	394;206;416;408	B4E0M2;B3KN32;Q96BN6;Q96BN6-2	.;.;F149B_HUMAN;.	A	416;206;211	ENSP00000242505:T416A;ENSP00000402293:T211A	ENSP00000242505:T416A	T	+	1	0	FAM149B1	74662821	0.439000	0.25610	0.285000	0.24819	0.549000	0.35272	0.542000	0.23222	-0.183000	0.10585	-0.321000	0.08615	ACC	.	.		0.493	FAM149B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145438.1	NM_173348	
TMEM254	80195	hgsc.bcm.edu	37	10	81838495	81838495	+	Missense_Mutation	SNP	A	A	C			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr10:81838495A>C	ENST00000372281.3	+	1	70	c.40A>C	c.(40-42)Agt>Cgt	p.S14R	TMEM254_ENST00000372274.1_Missense_Mutation_p.S14R|TMEM254-AS1_ENST00000432070.2_RNA|TMEM254-AS1_ENST00000448729.2_RNA|TMEM254_ENST00000372277.3_Missense_Mutation_p.S14R|TMEM254-AS1_ENST00000412298.1_RNA|TMEM254_ENST00000372275.1_Missense_Mutation_p.S14R	NM_001270372.1|NM_025125.3	NP_001257301.1|NP_079401.2	Q8TBM7	TM254_HUMAN	transmembrane protein 254	14						integral component of membrane (GO:0016021)											TCAGCGAGGCAGTCTGTTCTG	0.637																																					p.S14R		Atlas-SNP	.											.	TMEM254	1	.	0			c.A40C						.						87.0	71.0	76.0					10																	81838495		2202	4300	6502	SO:0001583	missense	80195	exon1			CGAGGCAGTCTGT	BC022252	CCDS7363.1, CCDS58086.1, CCDS58087.1, CCDS73157.1	10q23.1	2012-11-06	2012-11-06	2012-11-06	ENSG00000133678	ENSG00000133678			25804	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 57"""	C10orf57		14702039	Standard	NM_025125		Approved	FLJ13263, bA369J21.6	uc010qlw.3	Q8TBM7	OTTHUMG00000018602	ENST00000372281.3:c.40A>C	chr10.hg19:g.81838495A>C	ENSP00000361355:p.Ser14Arg	39.0	0.0		36.0	10.0	NM_001270370	D3DWC8|Q53HP4|Q5JTC0|Q5JTC1|Q6IA45|Q9H8S6	Missense_Mutation	SNP	ENST00000372281.3	hg19	CCDS7363.1	.	.	.	.	.	.	.	.	.	.	A	9.023	0.985388	0.18889	.	.	ENSG00000133678	ENST00000372281;ENST00000372277;ENST00000372275;ENST00000372274	.	.	.	4.76	4.76	0.60689	.	.	.	.	.	T	0.26702	0.0653	N	0.21373	0.66	0.09310	N	0.999999	B;B	0.21606	0.058;0.006	B;B	0.18561	0.022;0.015	T	0.14090	-1.0485	8	0.09843	T	0.71	.	10.8465	0.46746	1.0:0.0:0.0:0.0	.	14;14	Q5JTC0;Q8TBM7	.;CJ057_HUMAN	R	14	.	ENSP00000361348:S14R	S	+	1	0	C10orf57	81828475	0.121000	0.22262	0.118000	0.21660	0.167000	0.22549	2.053000	0.41326	2.137000	0.66172	0.379000	0.24179	AGT	.	.		0.637	TMEM254-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049030.1	NM_025125	
CYP2C9	1559	hgsc.bcm.edu	37	10	96707544	96707544	+	Missense_Mutation	SNP	T	T	C			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr10:96707544T>C	ENST00000260682.6	+	4	502	c.490T>C	c.(490-492)Tgt>Cgt	p.C164R		NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	164					arachidonic acid metabolic process (GO:0019369)|cellular amide metabolic process (GO:0043603)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|monocarboxylic acid metabolic process (GO:0032787)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|urea metabolic process (GO:0019627)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	(R)-limonene 6-monooxygenase activity (GO:0052741)|(S)-limonene 6-monooxygenase activity (GO:0018675)|(S)-limonene 7-monooxygenase activity (GO:0018676)|caffeine oxidase activity (GO:0034875)|drug binding (GO:0008144)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|steroid hydroxylase activity (GO:0008395)			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Agomelatine(DB06594)|Alosetron(DB00969)|Alprazolam(DB00404)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amprenavir(DB00701)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Arformoterol(DB01274)|Artemether(DB06697)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Atovaquone(DB01117)|Azelastine(DB00972)|Bexarotene(DB00307)|Bicalutamide(DB01128)|Bortezomib(DB00188)|Bosentan(DB00559)|Brompheniramine(DB00835)|Buprenorphine(DB00921)|Bupropion(DB01156)|Cabozantinib(DB08875)|Caffeine(DB00201)|Candesartan(DB00796)|Capecitabine(DB01101)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Celecoxib(DB00482)|Chloramphenicol(DB00446)|Chlorpropamide(DB00672)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Cinnarizine(DB00568)|Cisapride(DB00604)|Cisplatin(DB00515)|Clevidipine(DB04920)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Colchicine(DB01394)|Cyclizine(DB01176)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapagliflozin(DB06292)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Diclofenamide(DB01144)|Dicoumarol(DB00266)|Diethylstilbestrol(DB00255)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disulfiram(DB00822)|Dolasetron(DB00757)|Donepezil(DB00843)|Dopamine(DB00988)|Dorzolamide(DB00869)|Doxepin(DB01142)|Dronabinol(DB00470)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enzalutamide(DB08899)|Epinephrine(DB00668)|Epoprostenol(DB01240)|Eprosartan(DB00876)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Eszopiclone(DB00402)|Ethanol(DB00898)|Etodolac(DB00749)|Etoricoxib(DB01628)|Etravirine(DB06414)|Felodipine(DB01023)|Fenofibrate(DB01039)|Flecainide(DB01195)|Fluconazole(DB00196)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glyburide(DB01016)|Guanfacine(DB01018)|Haloperidol(DB00502)|Halothane(DB01159)|Hexobarbital(DB01355)|Histamine Phosphate(DB00667)|Human Serum Albumin(DB00062)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Ifosfamide(DB01181)|Imatinib(DB00619)|Indinavir(DB00224)|Indomethacin(DB00328)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Lidocaine(DB00281)|Lopinavir(DB01601)|Loratadine(DB00455)|Lornoxicam(DB06725)|Losartan(DB00678)|Lovastatin(DB00227)|Lumiracoxib(DB01283)|Medroxyprogesterone Acetate(DB00603)|Mefenamic acid(DB00784)|Melatonin(DB01065)|Meloxicam(DB00814)|Mestranol(DB01357)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methoxyflurane(DB01028)|Metronidazole(DB00916)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Montelukast(DB00471)|Naproxen(DB00788)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Ospemifene(DB04938)|Oxaprozin(DB00991)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Paroxetine(DB00715)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phenprocoumon(DB00946)|Phentermine(DB00191)|Phenylbutazone(DB00812)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Prasugrel(DB06209)|Pravastatin(DB00175)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Promethazine(DB01069)|Propafenone(DB01182)|Propofol(DB00818)|Pyrimethamine(DB00205)|Quazepam(DB01589)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rifapentine(DB01201)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sitaxentan(DB06268)|Sorafenib(DB00398)|Sulfadiazine(DB00359)|Sulfadimethoxine(DB06150)|Sulfamethizole(DB00576)|Sulfamethoxazole(DB01015)|Sulfamoxole(DB08798)|Sulfanilamide(DB00259)|Sulfaphenazole(DB06729)|Sulfapyridine(DB00891)|Sulfinpyrazone(DB01138)|Sulfisoxazole(DB00263)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tapentadol(DB06204)|Temazepam(DB00231)|Teniposide(DB00444)|Tenoxicam(DB00469)|Terbinafine(DB00857)|Testosterone(DB00624)|Thalidomide(DB01041)|Theophylline(DB00277)|Thiamylal(DB01154)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tolbutamide(DB01124)|Tolcapone(DB00323)|Tolterodine(DB01036)|Torasemide(DB00214)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Treprostinil(DB00374)|Tretinoin(DB00755)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Valsartan(DB00177)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Ximelagatran(DB04898)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Zidovudine(DB00495)|Zileuton(DB00744)|Zolpidem(DB00425)|Zopiclone(DB01198)	AGCCTCACCCTGTGATCCCAC	0.303																																					p.C164R	Ovarian(54;1266 1406 16072 35076)	Atlas-SNP	.											.	CYP2C9	82	.	0			c.T490C						.						121.0	120.0	120.0					10																	96707544		2203	4300	6503	SO:0001583	missense	1559	exon4			TCACCCTGTGATC	M61855	CCDS7437.1	10q24.1	2007-12-14	2003-01-14		ENSG00000138109	ENSG00000138109		"""Cytochrome P450s"""	2623	protein-coding gene	gene with protein product		601130	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 9"""	CYP2C10		2009263, 7841444	Standard	NM_000771		Approved	P450IIC9	uc001kka.4	P11712	OTTHUMG00000018805	ENST00000260682.6:c.490T>C	chr10.hg19:g.96707544T>C	ENSP00000260682:p.Cys164Arg	122.0	0.0		91.0	4.0	NM_000771	P11713|Q16756|Q16872|Q5VX92|Q6IRV8|Q8WW80	Missense_Mutation	SNP	ENST00000260682.6	hg19	CCDS7437.1	.	.	.	.	.	.	.	.	.	.	.	11.49	1.653707	0.29425	.	.	ENSG00000138109	ENST00000545448;ENST00000260682	T	0.68479	-0.33	3.33	3.33	0.38152	.	0.157256	0.41396	U	0.000882	T	0.54191	0.1843	N	0.25825	0.765	0.53005	D	0.99996	P;P	0.35242	0.492;0.492	B;B	0.39299	0.296;0.296	T	0.56805	-0.7918	10	0.49607	T	0.09	.	9.9282	0.41505	0.0:0.0:0.0:1.0	.	164;164	Q5VX92;P11712	.;CP2C9_HUMAN	R	164	ENSP00000260682:C164R	ENSP00000260682:C164R	C	+	1	0	CYP2C9	96697534	0.996000	0.38824	0.989000	0.46669	0.888000	0.51559	2.722000	0.47269	1.488000	0.48433	0.402000	0.26972	TGT	.	.		0.303	CYP2C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049501.1	NM_000771	
BLNK	29760	hgsc.bcm.edu	37	10	97966769	97966769	+	Missense_Mutation	SNP	T	T	C			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr10:97966769T>C	ENST00000224337.5	-	11	956	c.815A>G	c.(814-816)gAa>gGa	p.E272G	BLNK_ENST00000371176.2_Missense_Mutation_p.E249G|BLNK_ENST00000427367.2_Missense_Mutation_p.E272G|BLNK_ENST00000413476.2_Missense_Mutation_p.E272G	NM_013314.3	NP_037446.1	Q8WV28	BLNK_HUMAN	B-cell linker	272					B cell differentiation (GO:0030183)|humoral immune response (GO:0006959)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|positive regulation of signal transduction (GO:0009967)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(2)|stomach(1)	14		Colorectal(252;0.083)		Epithelial(162;7.89e-08)|all cancers(201;2.27e-06)		GATTTTACCTTCACAAACACT	0.308																																					p.E272G		Atlas-SNP	.											.	BLNK	46	.	0			c.A815G						.						82.0	86.0	85.0					10																	97966769		2203	4300	6503	SO:0001583	missense	29760	exon11			TTACCTTCACAAA	AF068180	CCDS7446.1, CCDS44464.1, CCDS58091.1, CCDS73171.1	10q23.2-q23.33	2014-09-17			ENSG00000095585	ENSG00000095585		"""SH2 domain containing"""	14211	protein-coding gene	gene with protein product	"""B-cell adapter containing a SH2 domain protein"", ""B-cell activation"", ""Src homology [SH2] domain-containing leukocyte protein of 65 kD"", ""B cell adaptor containing SH2 domain"""	604515				9697839, 10583958	Standard	NM_013314		Approved	SLP65, Ly57, SLP-65, BLNK-s, BASH, bca	uc001kls.4	Q8WV28	OTTHUMG00000018827	ENST00000224337.5:c.815A>G	chr10.hg19:g.97966769T>C	ENSP00000224337:p.Glu272Gly	114.0	0.0		80.0	4.0	NM_013314	O75498|O75499|Q2MD49	Missense_Mutation	SNP	ENST00000224337.5	hg19	CCDS7446.1	.	.	.	.	.	.	.	.	.	.	T	19.01	3.743738	0.69418	.	.	ENSG00000095585	ENST00000224337;ENST00000371176;ENST00000427367;ENST00000413476;ENST00000537049	.	.	.	5.63	5.63	0.86233	.	0.473283	0.25857	N	0.027858	T	0.68284	0.2984	M	0.62723	1.935	0.41510	D	0.988331	D;D;P;B;P;D	0.69078	0.972;0.997;0.921;0.055;0.872;0.989	P;P;P;B;B;P	0.62298	0.737;0.9;0.626;0.036;0.399;0.759	T	0.65730	-0.6097	9	0.25106	T	0.35	-27.9035	12.5296	0.56106	0.0:0.0:0.0:1.0	.	249;272;249;167;249;272	Q2MD54;Q2MD49;Q8WV28-2;Q2MD59;Q2MD52;Q8WV28	.;.;.;.;.;BLNK_HUMAN	G	272;249;272;272;167	.	ENSP00000224337:E272G	E	-	2	0	BLNK	97956759	1.000000	0.71417	1.000000	0.80357	0.680000	0.39746	3.521000	0.53472	2.281000	0.76405	0.533000	0.62120	GAA	.	.		0.308	BLNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049593.1	NM_013314	
SLIT1	6585	hgsc.bcm.edu	37	10	98824597	98824597	+	Silent	SNP	T	T	C			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr10:98824597T>C	ENST00000266058.4	-	6	767	c.522A>G	c.(520-522)gaA>gaG	p.E174E	ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371041.3_Silent_p.E174E|SLIT1_ENST00000371070.4_Silent_p.E174E	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	174					axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|dorsal/ventral axon guidance (GO:0033563)|establishment of nucleus localization (GO:0040023)|forebrain morphogenesis (GO:0048853)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of synapse assembly (GO:0051964)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord development (GO:0021510)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		GGAAGGCCCCTTCCTCAATGC	0.557																																					p.E174E		Atlas-SNP	.											.	SLIT1	154	.	0			c.A522G						.						182.0	162.0	169.0					10																	98824597		2203	4300	6503	SO:0001819	synonymous_variant	6585	exon6			GGCCCCTTCCTCA	AB011537	CCDS7453.1	10q23.3-q24	2008-08-01	2001-11-28		ENSG00000187122	ENSG00000187122			11085	protein-coding gene	gene with protein product		603742	"""slit (Drosophila) homolog 1"""	SLIL1		9693030, 9813312	Standard	NM_003061		Approved	slit1, MEGF4, Slit-1, SLIT3	uc001kmw.2	O75093	OTTHUMG00000018843	ENST00000266058.4:c.522A>G	chr10.hg19:g.98824597T>C		70.0	0.0		77.0	4.0	NM_003061	Q5T0V1|Q8WWZ2|Q9UIL7	Silent	SNP	ENST00000266058.4	hg19	CCDS7453.1																																																																																			.	.		0.557	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049636.1	NM_003061	
WNT8B	7479	hgsc.bcm.edu	37	10	102239648	102239648	+	Silent	SNP	C	C	T			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr10:102239648C>T	ENST00000343737.5	+	3	248	c.120C>T	c.(118-120)tcC>tcT	p.S40S		NM_003393.3	NP_003384.2	Q93098	WNT8B_HUMAN	wingless-type MMTV integration site family, member 8B	40					cell fate commitment (GO:0045165)|cellular response to retinoic acid (GO:0071300)|determination of dorsal identity (GO:0048263)|gastrulation (GO:0007369)|negative regulation of gene expression (GO:0010629)|nervous system development (GO:0007399)|neuron differentiation (GO:0030182)|positive regulation of gene expression (GO:0010628)|response to estradiol (GO:0032355)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			breast(1)|large_intestine(1)|ovary(1)|skin(1)	4		Colorectal(252;0.117)		Epithelial(162;1.87e-10)|all cancers(201;1.64e-08)		TGATTTACTCCAGCAGTGTGG	0.512																																					p.S40S		Atlas-SNP	.											.	WNT8B	31	.	0			c.C120T						.						113.0	114.0	114.0					10																	102239648		2203	4300	6503	SO:0001819	synonymous_variant	7479	exon3			TTACTCCAGCAGT	X91940	CCDS7494.1	10q24	2003-11-12			ENSG00000075290	ENSG00000075290		"""Wingless-type MMTV integration sites"""	12789	protein-coding gene	gene with protein product		601396				8661156	Standard	NM_003393		Approved		uc001krb.3	Q93098	OTTHUMG00000018912	ENST00000343737.5:c.120C>T	chr10.hg19:g.102239648C>T		82.0	0.0		71.0	4.0	NM_003393	O00771|Q5VX55|Q8WYK9	Silent	SNP	ENST00000343737.5	hg19	CCDS7494.1																																																																																			.	.		0.512	WNT8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049867.1	NM_003393	
KCNIP2	30819	hgsc.bcm.edu	37	10	103588904	103588904	+	Silent	SNP	A	A	G			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr10:103588904A>G	ENST00000356640.2	-	4	551	c.276T>C	c.(274-276)ggT>ggC	p.G92G	KCNIP2_ENST00000461105.1_Silent_p.G107G|KCNIP2_ENST00000370046.1_Silent_p.G42G|KCNIP2_ENST00000343195.4_Silent_p.G42G|KCNIP2_ENST00000353068.3_Silent_p.G42G|KCNIP2-AS1_ENST00000412353.1_RNA|KCNIP2_ENST00000355657.2_5'UTR|KCNIP2_ENST00000348850.5_Silent_p.G47G|KCNIP2_ENST00000358038.3_Silent_p.G74G	NM_014591.4|NM_173191.2	NP_055406.2|NP_775283.1	Q9NS61	KCIP2_HUMAN	Kv channel interacting protein 2	92	EF-hand 1; degenerate. {ECO:0000255|PROSITE-ProRule:PRU00448}.				clustering of voltage-gated potassium channels (GO:0045163)|detection of calcium ion (GO:0005513)|membrane repolarization (GO:0086009)|muscle contraction (GO:0006936)|potassium ion export (GO:0071435)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of cation channel activity (GO:2001257)|regulation of heart contraction (GO:0008016)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|calcium ion binding (GO:0005509)|ER retention sequence binding (GO:0046923)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein N-terminus binding (GO:0047485)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11		Colorectal(252;0.122)		Epithelial(162;4.93e-09)|all cancers(201;2.63e-07)		GCTGCTCCAGACCCTCAGGCC	0.617																																					p.G107G		Atlas-SNP	.											.	KCNIP2	45	.	0			c.T321C						.						80.0	65.0	70.0					10																	103588904		2203	4300	6503	SO:0001819	synonymous_variant	30819	exon4			CTCCAGACCCTCA		CCDS7521.1, CCDS7522.1, CCDS7523.1, CCDS7524.1, CCDS7525.1, CCDS7526.1, CCDS41562.1	10q24.32	2013-09-20	2001-11-29		ENSG00000120049	ENSG00000120049		"""EF-hand domain containing"""	15522	protein-coding gene	gene with protein product		604661	"""Kv channel-interacting protein 2"""			10676964	Standard	NM_173192		Approved	KCHIP2	uc001kuc.3	Q9NS61	OTTHUMG00000018937	ENST00000356640.2:c.276T>C	chr10.hg19:g.103588904A>G		89.0	0.0		65.0	5.0	NM_014591	A6NJE5|A8MQ75|Q3YAC6|Q3YAC8|Q3YAC9|Q7Z6F1|Q96K86|Q96T41|Q96T42|Q96T43|Q96T44|Q9H0N4|Q9HD10|Q9HD11|Q9NS60|Q9NY10|Q9NZI1	Silent	SNP	ENST00000356640.2	hg19	CCDS7522.1	.	.	.	.	.	.	.	.	.	.	A	15.01	2.705257	0.48412	.	.	ENSG00000120049	ENST00000359877;ENST00000434163	T	0.72394	-0.65	5.1	-8.12	0.01078	.	.	.	.	.	T	0.42494	0.1205	.	.	.	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.11012	-1.0605	8	0.21014	T	0.42	.	2.2216	0.03973	0.16:0.1314:0.3619:0.3467	.	14;23	B3KSZ5;Q9NS61-8	.;.	A	14;23	ENSP00000411679:V23A	ENSP00000352940:V14A	V	-	2	0	KCNIP2	103578894	0.692000	0.27719	0.942000	0.38095	0.972000	0.66771	-0.143000	0.10296	-1.077000	0.03121	-0.378000	0.06908	GTC	.	.		0.617	KCNIP2-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049973.1		
MXI1	4601	hgsc.bcm.edu	37	10	112038992	112038992	+	Silent	SNP	A	A	G			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr10:112038992A>G	ENST00000239007.7	+	4	509	c.291A>G	c.(289-291)ggA>ggG	p.G97G	MXI1_ENST00000369612.1_Silent_p.G61G|MXI1_ENST00000361248.4_Silent_p.G51G|MXI1_ENST00000332674.5_Silent_p.G164G|MXI1_ENST00000393134.1_Silent_p.G87G|MXI1_ENST00000485566.1_3'UTR	NM_005962.4	NP_005953.4	P50539	MXI1_HUMAN	MAX interactor 1, dimerization protein	97	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cytoplasmic sequestering of transcription factor (GO:0042994)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(1)	10		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;1.33e-05)|all cancers(201;0.000277)|BRCA - Breast invasive adenocarcinoma(275;0.127)		TTCCACTAGGACCAGACTGCA	0.423																																					p.G164G		Atlas-SNP	.											.	MXI1	17	.	0			c.A492G						.						132.0	126.0	128.0					10																	112038992		2203	4300	6503	SO:0001819	synonymous_variant	4601	exon4			ACTAGGACCAGAC	BC016678	CCDS7563.1, CCDS7564.2, CCDS31284.1	10q24-q25	2012-11-15	2012-11-15		ENSG00000119950	ENSG00000119950		"""MAX dimerization proteins"", ""Basic helix-loop-helix proteins"""	7534	protein-coding gene	gene with protein product		600020	"""MAX interacting protein 1"", ""MAX interactor 1"""			7959753	Standard	NM_130439		Approved	MXD2, MAD2, MXI, bHLHc11	uc001kyy.3	P50539	OTTHUMG00000019033	ENST00000239007.7:c.291A>G	chr10.hg19:g.112038992A>G		119.0	0.0		99.0	4.0	NM_130439	B1ANN7|D3DR25|D3DRA9|Q15887|Q6FHW2|Q96E53	Silent	SNP	ENST00000239007.7	hg19	CCDS7564.2																																																																																			.	.		0.423	MXI1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050316.1	NM_130439	
ATRNL1	26033	hgsc.bcm.edu	37	10	117061550	117061550	+	Missense_Mutation	SNP	T	T	C			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr10:117061550T>C	ENST00000355044.3	+	17	2941	c.2815T>C	c.(2815-2817)Tcc>Ccc	p.S939P	ATRNL1_ENST00000423111.2_Missense_Mutation_p.S36P|ATRNL1_ENST00000303745.7_5'UTR	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	939	PSI 4.				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)		TGCCACCTGCTCCCGTAAGTA	0.368																																					p.S939P		Atlas-SNP	.											.	ATRNL1	219	.	0			c.T2815C						.						173.0	148.0	156.0					10																	117061550		2203	4300	6503	SO:0001583	missense	26033	exon17			ACCTGCTCCCGTA	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.2815T>C	chr10.hg19:g.117061550T>C	ENSP00000347152:p.Ser939Pro	75.0	0.0		67.0	4.0	NM_207303	O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Missense_Mutation	SNP	ENST00000355044.3	hg19	CCDS7592.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	8.902|8.902	0.956570|0.956570	0.18507|0.18507	.|.	.|.	ENSG00000107518|ENSG00000107518	ENST00000526373|ENST00000355044;ENST00000423111	.|T;T	.|0.24151	.|2.5;1.87	5.64|5.64	5.64|5.64	0.86602|0.86602	.|.	.|0.261243	.|0.43747	.|D	.|0.000525	T|T	0.11750|0.11750	0.0286|0.0286	N|N	0.02916|0.02916	-0.46|-0.46	0.80722|0.80722	D|D	1|1	.|P;P	.|0.42584	.|0.475;0.784	.|B;B	.|0.38880	.|0.063;0.284	T|T	0.26744|0.26744	-1.0094|-1.0094	5|10	.|0.14252	.|T	.|0.57	-8.0369|-8.0369	15.8593|15.8593	0.79009|0.79009	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|36;939	.|B4DH41;Q5VV63	.|.;ATRN1_HUMAN	P|P	68|939;36	.|ENSP00000347152:S939P;ENSP00000409624:S36P	.|ENSP00000347152:S939P	L|S	+|+	2|1	0|0	ATRNL1|ATRNL1	117051540|117051540	0.989000|0.989000	0.36119|0.36119	1.000000|1.000000	0.80357|0.80357	0.941000|0.941000	0.58515|0.58515	0.911000|0.911000	0.28584|0.28584	2.153000|2.153000	0.67306|0.67306	0.482000|0.482000	0.46254|0.46254	CTC|TCC	.	.		0.368	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050507.3	XM_049349	
EIF3A	8661	hgsc.bcm.edu	37	10	120832562	120832562	+	Silent	SNP	A	A	G			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr10:120832562A>G	ENST00000369144.3	-	4	508	c.381T>C	c.(379-381)gtT>gtC	p.V127V	EIF3A_ENST00000541549.1_Silent_p.V93V	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)		CACTTAGGAGAACACTACAAA	0.363																																					p.V127V		Atlas-SNP	.											.	EIF3A	142	.	0			c.T381C						.						56.0	53.0	54.0					10																	120832562		2203	4300	6503	SO:0001819	synonymous_variant	8661	exon4			TAGGAGAACACTA	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.381T>C	chr10.hg19:g.120832562A>G		47.0	0.0		42.0	4.0	NM_003750	B7ZBG9|Q6IBN8|Q96TD5	Silent	SNP	ENST00000369144.3	hg19	CCDS7608.1																																																																																			.	.		0.363	EIF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050634.1	NM_003750	
MCMBP	79892	hgsc.bcm.edu	37	10	121595143	121595143	+	Nonsense_Mutation	SNP	G	G	C			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr10:121595143G>C	ENST00000360003.3	-	14	1791	c.1622C>G	c.(1621-1623)tCa>tGa	p.S541*	MCMBP_ENST00000369077.3_Nonsense_Mutation_p.S539*|MCMBP_ENST00000466047.1_5'UTR	NM_001256378.1|NM_001256379.1|NM_024834.3	NP_001243307.1|NP_001243308.1|NP_079110.1	Q9BTE3	MCMBP_HUMAN	minichromosome maintenance complex binding protein	541					DNA-dependent DNA replication (GO:0006261)|mitotic nuclear division (GO:0007067)|sister chromatid cohesion (GO:0007062)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(2)|skin(2)	21						CAGCACCGCTGAGAGAAGGCT	0.428																																					p.S541X		Atlas-SNP	.											.	MCMBP	49	.	0			c.C1622G						.						121.0	116.0	118.0					10																	121595143		2203	4300	6503	SO:0001587	stop_gained	79892	exon14			ACCGCTGAGAGAA	BC007219	CCDS7617.1, CCDS58099.1	10q26.13	2013-10-11	2011-01-05	2011-01-05	ENSG00000197771	ENSG00000197771			25782	protein-coding gene	gene with protein product		610909	"""chromosome 10 open reading frame 119"""	C10orf119		17296731	Standard	NM_024834		Approved	FLJ13081, MCM-BP	uc001ler.3	Q9BTE3	OTTHUMG00000019159	ENST00000360003.3:c.1622C>G	chr10.hg19:g.121595143G>C	ENSP00000353098:p.Ser541*	92.0	0.0		83.0	25.0	NM_024834	B3KSP7|Q6IA56|Q9BVT9|Q9H916	Nonsense_Mutation	SNP	ENST00000360003.3	hg19	CCDS7617.1	.	.	.	.	.	.	.	.	.	.	G	37	6.427239	0.97559	.	.	ENSG00000197771	ENST00000360003;ENST00000369077	.	.	.	5.52	4.58	0.56647	.	1.101780	0.06752	N	0.780258	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	-8.4364	16.3692	0.83347	0.0:0.1316:0.8684:0.0	.	.	.	.	X	541;539	.	ENSP00000353098:S541X	S	-	2	0	MCMBP	121585133	0.864000	0.29904	0.393000	0.26258	0.949000	0.60115	3.044000	0.49830	2.601000	0.87937	0.313000	0.20887	TCA	.	.		0.428	MCMBP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000050684.1	NM_024834	
ADAM8	101	hgsc.bcm.edu	37	10	135085698	135085698	+	Splice_Site	SNP	T	T	C			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr10:135085698T>C	ENST00000445355.3	-	10	1006	c.956A>G	c.(955-957)cAg>cGg	p.Q319R	ADAM8_ENST00000559180.1_5'Flank|ADAM8_ENST00000485491.2_Splice_Site_p.Q280R|ADAM8_ENST00000415217.3_Splice_Site_p.Q319R	NM_001109.4	NP_001100.3	P78325	ADAM8_HUMAN	ADAM metallopeptidase domain 8	319	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				activation of MAPK activity involved in innate immune response (GO:0035419)|angiogenesis (GO:0001525)|cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|leukocyte migration involved in inflammatory response (GO:0002523)|lymphocyte chemotaxis (GO:0048247)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of bone resorption (GO:0045780)|positive regulation of cell adhesion (GO:0045785)|positive regulation of eosinophil migration (GO:2000418)|positive regulation of fibronectin-dependent thymocyte migration (GO:2000415)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of neutrophil extravasation (GO:2000391)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein processing (GO:0010954)|positive regulation of protein secretion (GO:0050714)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of tumor necrosis factor (ligand) superfamily member 11 production (GO:2000309)|regulation of cell-cell adhesion (GO:0022407)|single organismal cell-cell adhesion (GO:0016337)	alpha9-beta1 integrin-ADAM8 complex (GO:0071133)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dense core granule membrane (GO:0032127)|integral component of plasma membrane (GO:0005887)|phagolysosome (GO:0032010)|plasma membrane (GO:0005886)|podosome (GO:0002102)|specific granule (GO:0042581)|tertiary granule (GO:0070820)	calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein self-association (GO:0043621)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)	17		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;7.72e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.23e-06)|Epithelial(32;1.02e-05)		CCCCCTCACCTGGTTCACAGC	0.667																																					p.Q319R		Atlas-SNP	.											.	ADAM8	41	.	0			c.A956G						.						17.0	16.0	16.0					10																	135085698		1999	3965	5964	SO:0001630	splice_region_variant	101	exon10			CTCACCTGGTTCA	D26579	CCDS31319.2, CCDS58102.1, CCDS58103.1	10q26.3	2014-03-20	2005-08-18		ENSG00000151651	ENSG00000151651		"""ADAM metallopeptidase domain containing"", ""CD molecules"""	215	protein-coding gene	gene with protein product		602267	"""a disintegrin and metalloproteinase domain 8"""			9126482	Standard	NM_001109		Approved	CD156, MS2, CD156a	uc021qbe.1	P78325	OTTHUMG00000019309	ENST00000445355.3:c.957+1A>G	chr10.hg19:g.135085698T>C		88.0	0.0		74.0	4.0	NM_001164489	B4DVM6|H0YL36|H0YLR0|H0YN39	Missense_Mutation	SNP	ENST00000445355.3	hg19	CCDS31319.2																																																																																			.	.		0.667	ADAM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051118.4	NM_001109	Missense_Mutation
AP2A2	161	hgsc.bcm.edu	37	11	992507	992507	+	Missense_Mutation	SNP	T	T	G			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr11:992507T>G	ENST00000448903.2	+	11	1415	c.1274T>G	c.(1273-1275)cTg>cGg	p.L425R	AP2A2_ENST00000332231.5_Missense_Mutation_p.L426R|AP2A2_ENST00000534328.1_Intron	NM_001242837.1|NM_012305.3	NP_001229766.1|NP_036437.1	O94973	AP2A2_HUMAN	adaptor-related protein complex 2, alpha 2 subunit	425					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)		CCACAGGTGCTGAAGGTCGCC	0.537																																					p.L426R		Atlas-SNP	.											.	AP2A2	50	.	0			c.T1277G						.						56.0	52.0	53.0					11																	992507		2006	4159	6165	SO:0001583	missense	161	exon11			AGGTGCTGAAGGT	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.1274T>G	chr11.hg19:g.992507T>G	ENSP00000413234:p.Leu425Arg	81.0	0.0		100.0	4.0	NM_001242837	O75403|Q53ET1|Q96SI8	Missense_Mutation	SNP	ENST00000448903.2	hg19	CCDS44512.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.173036	0.78452	.	.	ENSG00000183020	ENST00000448903;ENST00000332231;ENST00000448757;ENST00000529125;ENST00000452310	T;T	0.23950	1.88;1.88	3.79	3.79	0.43588	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000004	T	0.54663	0.1872	M	0.87900	2.915	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.995;0.997	T	0.64193	-0.6465	10	0.72032	D	0.01	-18.0546	13.232	0.59949	0.0:0.0:0.0:1.0	.	164;426;425	B7Z1Q4;O94973-2;O94973	.;.;AP2A2_HUMAN	R	425;426;426;162;165	ENSP00000413234:L425R;ENSP00000327694:L426R	ENSP00000327694:L426R	L	+	2	0	AP2A2	982507	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	7.707000	0.84623	1.678000	0.50952	0.374000	0.22700	CTG	.	.		0.537	AP2A2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000385431.2	NM_012305	
AP2A2	161	hgsc.bcm.edu	37	11	1000575	1000575	+	Silent	SNP	T	T	C			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr11:1000575T>C	ENST00000448903.2	+	15	2241	c.2100T>C	c.(2098-2100)ccT>ccC	p.P700P	AP2A2_ENST00000332231.5_Silent_p.P701P|AP2A2_ENST00000534328.1_Intron|AP2A2_ENST00000525891.1_3'UTR	NM_001242837.1|NM_012305.3	NP_001229766.1|NP_036437.1	O94973	AP2A2_HUMAN	adaptor-related protein complex 2, alpha 2 subunit	700					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)		CTCTCGCTCCTGGCTCCGAAG	0.706																																					p.P701P		Atlas-SNP	.											.	AP2A2	50	.	0			c.T2103C						.						9.0	10.0	10.0					11																	1000575		2000	4132	6132	SO:0001819	synonymous_variant	161	exon15			CGCTCCTGGCTCC	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.2100T>C	chr11.hg19:g.1000575T>C		20.0	0.0		20.0	4.0	NM_001242837	O75403|Q53ET1|Q96SI8	Silent	SNP	ENST00000448903.2	hg19	CCDS44512.1																																																																																			.	.		0.706	AP2A2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000385431.2	NM_012305	
MUC2	4583	hgsc.bcm.edu	37	11	1093299	1093299	+	Silent	SNP	G	G	A	rs113492997		TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr11:1093299G>A	ENST00000441003.2	+	30	5145	c.5118G>A	c.(5116-5118)acG>acA	p.T1706T	MUC2_ENST00000333592.6_5'Flank|MUC2_ENST00000359061.5_Silent_p.T1673T|MUC2_ENST00000361558.6_Intron	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	0	Approximate repeats.				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)	ccaccactacggtgaccccaa	0.637																																					p.T1706T		Atlas-SNP	.											.	MUC2	614	.	0			c.G5118A						.																																			SO:0001819	synonymous_variant	4583	exon30			CACTACGGTGACC	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.5118G>A	chr11.hg19:g.1093299G>A		50.0	0.0		67.0	5.0	NM_002457	Q14878	Silent	SNP	ENST00000441003.2	hg19																																																																																				.	.		0.637	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457	
TRIM34	53840	hgsc.bcm.edu	37	11	5664784	5664784	+	Missense_Mutation	SNP	G	G	A			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr11:5664784G>A	ENST00000514226.1	+	8	1649	c.1312G>A	c.(1312-1314)Gac>Aac	p.D438N	TRIM34_ENST00000495668.1_3'UTR|TRIM6-TRIM34_ENST00000457787.2_Missense_Mutation_p.D438N|HBG2_ENST00000380259.2_Intron|TRIM6-TRIM34_ENST00000354852.5_Missense_Mutation_p.D792N|TRIM34_ENST00000429814.2_Missense_Mutation_p.D438N	NM_001003827.1	NP_001003827.1	Q9BYJ4	TRI34_HUMAN	tripartite motif containing 34	438	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein trimerization (GO:0070206)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			NS(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	17		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;5.72e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGTTTTCCTCGACTATGAAGC	0.443																																					p.D792N		Atlas-SNP	.											.	TRIM6-TRIM34	68	.	0			c.G2374A						.						124.0	115.0	119.0					11																	5664784		2201	4297	6498	SO:0001583	missense	445372	exon14			TTCCTCGACTATG	AB039902	CCDS31391.1	11p15	2013-01-09	2011-01-25	2001-11-23		ENSG00000258659		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10063	protein-coding gene	gene with protein product		605684	"""tripartite motif-containing 34"""	RNF21			Standard	NM_130390		Approved			Q9BYJ4	OTTHUMG00000066892	ENST00000514226.1:c.1312G>A	chr11.hg19:g.5664784G>A	ENSP00000422947:p.Asp438Asn	222.0	0.0		218.0	13.0	NM_001003819	D3DQS7|Q9C016|Q9HCR0|Q9HCR1|Q9HCR2	Missense_Mutation	SNP	ENST00000514226.1	hg19	CCDS31391.1	.	.	.	.	.	.	.	.	.	.	G	16.64	3.180374	0.57800	.	.	ENSG00000258659;ENSG00000258659;ENSG00000258659;ENSG00000258659;ENSG00000258588	ENST00000337072;ENST00000514226;ENST00000429814;ENST00000457787;ENST00000354852	T;T;T;T	0.80214	-1.35;-1.35;-1.35;-1.35	2.99	2.07	0.26955	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.35235	N	0.003360	D	0.85712	0.5760	M	0.81614	2.55	0.25800	N	0.984524	D;D	0.60575	0.973;0.988	D;P	0.63113	0.911;0.832	T	0.75736	-0.3213	10	0.59425	D	0.04	.	5.8549	0.18714	0.1491:0.0:0.8509:0.0	.	438;792	Q9BYJ4;B2RNG4	TRI34_HUMAN;.	N	792;438;438;438;792	ENSP00000422947:D438N;ENSP00000402595:D438N;ENSP00000395982:D438N;ENSP00000346916:D792N	ENSP00000402595:D438N	D	+	1	0	TRIM34;TRIM6-TRIM34	5621360	1.000000	0.71417	0.767000	0.31495	0.577000	0.36160	3.065000	0.49994	0.823000	0.34589	0.467000	0.42956	GAC	.	.		0.443	TRIM34-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143357.2	NM_001003827	
NAV2	89797	hgsc.bcm.edu	37	11	20127228	20127228	+	Missense_Mutation	SNP	C	C	T			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr11:20127228C>T	ENST00000396087.3	+	38	7072	c.6973C>T	c.(6973-6975)Ctc>Ttc	p.L2325F	NAV2_ENST00000527559.2_Missense_Mutation_p.L2254F|NAV2_ENST00000540292.1_Missense_Mutation_p.L2256F|NAV2_ENST00000533917.1_Missense_Mutation_p.L1330F|NAV2_ENST00000396085.1_Missense_Mutation_p.L2269F|NAV2_ENST00000311043.8_Missense_Mutation_p.L1330F|NAV2_ENST00000360655.4_Missense_Mutation_p.L2202F|NAV2_ENST00000349880.4_Missense_Mutation_p.L2266F	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	2325					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						CTGGCATCACCTCAACCGCTT	0.582																																					p.L2325F		Atlas-SNP	.											.	NAV2	255	.	0			c.C6973T						.						109.0	100.0	103.0					11																	20127228		2203	4300	6503	SO:0001583	missense	89797	exon37			CATCACCTCAACC	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.6973C>T	chr11.hg19:g.20127228C>T	ENSP00000379396:p.Leu2325Phe	100.0	0.0		97.0	4.0	NM_001244963	A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Missense_Mutation	SNP	ENST00000396087.3	hg19	CCDS58126.1	.	.	.	.	.	.	.	.	.	.	c	31	5.091066	0.94149	.	.	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292;ENST00000533917;ENST00000311043	T;T;T;T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93;0.93;0.93;0.93	5.25	5.25	0.73442	.	0.000000	0.56097	D	0.000032	T	0.68732	0.3033	M	0.84326	2.69	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.91635	0.986;0.997;0.994;0.999	T	0.72137	-0.4381	9	.	.	.	.	18.4317	0.90628	0.0:1.0:0.0:0.0	.	2269;1330;2266;2202	A7E2D6;Q8IVL1-5;Q8IVL1-3;Q8IVL1-4	.;.;.;.	F	2202;2269;2266;2325;2254;2256;1330;1330	ENSP00000353871:L2202F;ENSP00000379394:L2269F;ENSP00000309577:L2266F;ENSP00000379396:L2325F;ENSP00000435395:L2254F;ENSP00000443489:L2256F;ENSP00000437316:L1330F;ENSP00000312169:L1330F	.	L	+	1	0	NAV2	20083804	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.965000	0.63708	2.462000	0.83206	0.655000	0.94253	CTC	.	.		0.582	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117	
HIPK3	10114	hgsc.bcm.edu	37	11	33308364	33308364	+	Missense_Mutation	SNP	A	A	G			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr11:33308364A>G	ENST00000303296.4	+	2	709	c.404A>G	c.(403-405)gAt>gGt	p.D135G	HIPK3_ENST00000525975.1_Missense_Mutation_p.D135G|HIPK3_ENST00000456517.1_Missense_Mutation_p.D135G|HIPK3_ENST00000379016.3_Missense_Mutation_p.D135G	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3	135					apoptotic process (GO:0006915)|mRNA transcription (GO:0009299)|negative regulation of apoptotic process (GO:0043066)|negative regulation of JUN kinase activity (GO:0043508)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						GAGGAGTTGGATAATCATAGC	0.502																																					p.D135G		Atlas-SNP	.											.	HIPK3	92	.	0			c.A404G						.						86.0	73.0	78.0					11																	33308364		2202	4298	6500	SO:0001583	missense	10114	exon2			AGTTGGATAATCA	AF004849	CCDS7884.1, CCDS41634.1	11p13	2008-07-18	2001-11-29		ENSG00000110422	ENSG00000110422			4915	protein-coding gene	gene with protein product		604424	"""homeodomain-interacting protein kinase 3"""			9373137, 9748262	Standard	NM_005734		Approved	PKY, DYRK6, YAK1, FIST3	uc031pzm.1	Q9H422	OTTHUMG00000132269	ENST00000303296.4:c.404A>G	chr11.hg19:g.33308364A>G	ENSP00000304226:p.Asp135Gly	103.0	0.0		93.0	5.0	NM_001048200	O14632|Q2PBG4|Q2PBG5|Q92632|Q9HAS2	Missense_Mutation	SNP	ENST00000303296.4	hg19	CCDS7884.1	.	.	.	.	.	.	.	.	.	.	A	13.37	2.217415	0.39201	.	.	ENSG00000110422	ENST00000525975;ENST00000303296;ENST00000379016;ENST00000456517	T;T;T;T	0.53423	0.65;0.62;0.65;0.65	5.65	5.65	0.86999	.	0.170827	0.41097	D	0.000947	T	0.45438	0.1342	L	0.49126	1.545	0.54753	D	0.999982	B;B	0.06786	0.001;0.001	B;B	0.10450	0.005;0.003	T	0.32666	-0.9898	10	0.45353	T	0.12	.	15.8791	0.79189	1.0:0.0:0.0:0.0	.	135;135	Q9H422-2;Q9H422	.;HIPK3_HUMAN	G	135	ENSP00000431710:D135G;ENSP00000304226:D135G;ENSP00000368301:D135G;ENSP00000398241:D135G	ENSP00000304226:D135G	D	+	2	0	HIPK3	33264940	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	6.308000	0.72820	2.160000	0.67779	0.477000	0.44152	GAT	.	.		0.502	HIPK3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255358.1	NM_005734	
ALKBH3	221120	hgsc.bcm.edu	37	11	43940662	43940662	+	Silent	SNP	A	A	G			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr11:43940662A>G	ENST00000302708.4	+	9	1155	c.744A>G	c.(742-744)gaA>gaG	p.E248E	ALKBH3_ENST00000532410.1_3'UTR|ALKBH3-AS1_ENST00000528285.1_RNA|ALKBH3-AS1_ENST00000499194.1_RNA|RP11-613D13.4_ENST00000526408.1_RNA|ALKBH3-AS1_ENST00000534287.1_RNA|ALKBH3-AS1_ENST00000527960.1_RNA	NM_139178.3	NP_631917.1	Q96Q83	ALKB3_HUMAN	alkB, alkylation repair homolog 3 (E. coli)	248	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.				cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA repair (GO:0006281)|oxidative single-stranded DNA demethylation (GO:0035552)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA-N1-methyladenine dioxygenase activity (GO:0043734)|ferrous iron binding (GO:0008198)|L-ascorbic acid binding (GO:0031418)			endometrium(2)|kidney(1)|lung(4)|prostate(1)	8					Vitamin C(DB00126)	TAATCATGGAAGGAGCGACAC	0.423								Direct reversal of damage																													p.E248E		Atlas-SNP	.											.	ALKBH3	33	.	0			c.A744G						.						186.0	153.0	164.0					11																	43940662		2203	4300	6503	SO:0001819	synonymous_variant	221120	exon9			CATGGAAGGAGCG	AB042029	CCDS7906.1	11p11.2	2013-10-11			ENSG00000166199	ENSG00000166199		"""Alkylation repair homologs"""	30141	protein-coding gene	gene with protein product		610603				22055184	Standard	NM_139178		Approved	DEPC-1	uc001mxs.2	Q96Q83	OTTHUMG00000166417	ENST00000302708.4:c.744A>G	chr11.hg19:g.43940662A>G		66.0	0.0		67.0	4.0	NM_139178	A6NDJ1|Q3SYI0|Q6NX57|Q96BU8	Silent	SNP	ENST00000302708.4	hg19	CCDS7906.1	.	.	.	.	.	.	.	.	.	.	A	9.787	1.176856	0.21704	.	.	ENSG00000166199	ENST00000532129	.	.	.	5.79	0.751	0.18392	.	.	.	.	.	T	0.54498	0.1862	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44711	-0.9310	4	.	.	.	-18.5699	7.5324	0.27691	0.4811:0.0:0.5189:0.0	.	.	.	.	G	118	.	.	R	+	1	2	ALKBH3	43897238	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	0.736000	0.26130	0.127000	0.18452	-0.250000	0.11733	AGG	.	.		0.423	ALKBH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389693.1	NM_139178	
PHF21A	51317	hgsc.bcm.edu	37	11	45958088	45958088	+	Silent	SNP	A	A	G			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr11:45958088A>G	ENST00000418153.2	-	16	1837	c.1638T>C	c.(1636-1638)ccT>ccC	p.P546P	PHF21A_ENST00000257821.4_Silent_p.P547P|PHF21A_ENST00000323180.6_Silent_p.P500P|PHF21A_ENST00000527753.1_5'Flank			Q96BD5	PF21A_HUMAN	PHD finger protein 21A	546	Required for transcriptional repression.				blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|suckling behavior (GO:0001967)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	29						CTAAAGTTCCAGGCCATGGAA	0.368																																					p.P546P		Atlas-SNP	.											.	PHF21A	107	.	0			c.T1638C						.						130.0	127.0	128.0					11																	45958088		2202	4299	6501	SO:0001819	synonymous_variant	51317	exon16			AGTTCCAGGCCAT	AL359593	CCDS31474.1, CCDS44578.1	11p11.2	2013-01-28			ENSG00000135365	ENSG00000135365		"""Zinc fingers, PHD-type"""	24156	protein-coding gene	gene with protein product		608325				11214970, 12032298	Standard	NM_001101802		Approved	BHC80, KIAA1696, BM-006	uc001ncc.4	Q96BD5	OTTHUMG00000167038	ENST00000418153.2:c.1638T>C	chr11.hg19:g.45958088A>G		80.0	0.0		100.0	4.0	NM_001101802	D3DQP5|Q6AWA2|Q9C0G7|Q9H8V9|Q9HAK6|Q9NZE9	Silent	SNP	ENST00000418153.2	hg19	CCDS44578.1																																																																																			.	.		0.368	PHF21A-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392583.1	NM_016621	
ARHGAP1	392	hgsc.bcm.edu	37	11	46703710	46703710	+	Missense_Mutation	SNP	G	G	C			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr11:46703710G>C	ENST00000311956.4	-	5	437	c.340C>G	c.(340-342)Cag>Gag	p.Q114E		NM_004308.3	NP_004299.1	Q07960	RHG01_HUMAN	Rho GTPase activating protein 1	114	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				positive regulation of signal transduction (GO:0009967)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	Rac GTPase activator activity (GO:0030675)|Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			endometrium(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11		Lung NSC(402;1.76e-12)|all_lung(304;1.3e-11)		GBM - Glioblastoma multiforme(35;5.17e-06)|BRCA - Breast invasive adenocarcinoma(625;0.00112)|Lung(87;0.153)		TCCACGTACTGGTCCAGGGTG	0.607																																					p.Q114E		Atlas-SNP	.											.	ARHGAP1	27	.	0			c.C340G						.						225.0	179.0	195.0					11																	46703710		2201	4299	6500	SO:0001583	missense	392	exon5			CGTACTGGTCCAG	BC018118	CCDS7922.1	11p11.2	2006-04-11			ENSG00000175220	ENSG00000175220		"""Rho GTPase activating proteins"""	673	protein-coding gene	gene with protein product		602732				8288572	Standard	NM_004308		Approved	RhoGAP, p50rhoGAP, CDC42GAP, Cdc42GAP	uc001ndd.4	Q07960	OTTHUMG00000166567	ENST00000311956.4:c.340C>G	chr11.hg19:g.46703710G>C	ENSP00000310491:p.Gln114Glu	163.0	0.0		190.0	37.0	NM_004308	D3DQQ6	Missense_Mutation	SNP	ENST00000311956.4	hg19	CCDS7922.1	.	.	.	.	.	.	.	.	.	.	G	15.34	2.805404	0.50315	.	.	ENSG00000175220	ENST00000311956;ENST00000443332;ENST00000525488	T;T	0.60797	0.16;0.16	5.1	5.1	0.69264	Cellular retinaldehyde-binding/triple function, C-terminal (4);	0.052744	0.85682	D	0.000000	T	0.53883	0.1824	L	0.52573	1.65	0.58432	D	0.999998	P	0.38250	0.624	B	0.39465	0.3	T	0.50558	-0.8814	10	0.12103	T	0.63	.	18.5084	0.90907	0.0:0.0:1.0:0.0	.	114	Q07960	RHG01_HUMAN	E	114	ENSP00000310491:Q114E;ENSP00000432794:Q114E	ENSP00000310491:Q114E	Q	-	1	0	ARHGAP1	46660286	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	6.312000	0.72840	2.366000	0.80165	0.491000	0.48974	CAG	.	.		0.607	ARHGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390472.1	NM_004308	
FAM111B	374393	hgsc.bcm.edu	37	11	58893058	58893058	+	Silent	SNP	G	G	A			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr11:58893058G>A	ENST00000343597.3	+	4	1679	c.1488G>A	c.(1486-1488)gtG>gtA	p.V496V	FAM111B_ENST00000529618.1_Silent_p.V466V|FAM111B_ENST00000411426.1_Silent_p.V466V	NM_198947.3	NP_945185.1	Q6SJ93	F111B_HUMAN	family with sequence similarity 111, member B	496							catalytic activity (GO:0003824)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1)	40						ATCTTATGGTGGGTAAAAACA	0.398																																					p.V496V		Atlas-SNP	.											.	FAM111B	84	.	0			c.G1488A						.						114.0	112.0	112.0					11																	58893058		2201	4290	6491	SO:0001819	synonymous_variant	374393	exon4			TATGGTGGGTAAA	BC062456	CCDS7972.1, CCDS44611.1	11q12.1	2014-03-13			ENSG00000189057	ENSG00000189057			24200	protein-coding gene	gene with protein product		615584				24268661	Standard	NM_198947		Approved	CANP	uc001nnl.3	Q6SJ93	OTTHUMG00000167279	ENST00000343597.3:c.1488G>A	chr11.hg19:g.58893058G>A		240.0	0.0		224.0	54.0	NM_198947	B4E2G2|Q6P661	Silent	SNP	ENST00000343597.3	hg19	CCDS7972.1																																																																																			.	.		0.398	FAM111B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393974.1	NM_198947	
EML3	256364	hgsc.bcm.edu	37	11	62370679	62370679	+	Silent	SNP	A	A	G			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr11:62370679A>G	ENST00000394773.2	-	20	2605	c.2298T>C	c.(2296-2298)taT>taC	p.Y766Y	MTA2_ENST00000278823.2_5'Flank|EML3_ENST00000531557.1_Silent_p.Y549Y|EML3_ENST00000494176.2_Silent_p.Y738Y|RP11-831H9.3_ENST00000532626.1_RNA|EML3_ENST00000529309.1_Silent_p.Y766Y|MTA2_ENST00000527204.1_5'Flank|EML3_ENST00000438258.1_5'Flank|EML3_ENST00000278845.4_Silent_p.Y767Y	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like 3	766						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						CTCGGCTCTCATAGCGATTCT	0.627																																					p.Y766Y		Atlas-SNP	.											.	EML3	61	.	0			c.T2298C						.						105.0	103.0	103.0					11																	62370679		2202	4299	6501	SO:0001819	synonymous_variant	256364	exon20			GCTCTCATAGCGA	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.2298T>C	chr11.hg19:g.62370679A>G		58.0	0.0		84.0	4.0	NM_153265	Q6ZQW7|Q8NA55	Silent	SNP	ENST00000394773.2	hg19	CCDS8023.2	.	.	.	.	.	.	.	.	.	.	A	8.041	0.763806	0.15914	.	.	ENSG00000149499	ENST00000394776	.	.	.	4.78	0.982	0.19762	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-15.9591	7.6462	0.28321	0.7269:0.0:0.2731:0.0	.	.	.	.	R	761	.	.	X	-	1	0	EML3	62127255	0.913000	0.31002	1.000000	0.80357	0.997000	0.91878	0.282000	0.18829	0.150000	0.19136	0.459000	0.35465	TGA	.	.		0.627	EML3-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313432.1	NM_153265	
ATL3	25923	hgsc.bcm.edu	37	11	63398635	63398635	+	Silent	SNP	C	C	T			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr11:63398635C>T	ENST00000398868.3	-	12	1692	c.1416G>A	c.(1414-1416)ttG>ttA	p.L472L	ATL3_ENST00000332645.4_Silent_p.L499L|ATL3_ENST00000538786.1_Silent_p.L454L	NM_015459.3	NP_056274.3	Q6DD88	ATLA3_HUMAN	atlastin GTPase 3	472					endoplasmic reticulum organization (GO:0007029)|Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|protein homooligomerization (GO:0051260)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	11						TACAGTTGAACAACTGGGCTA	0.502																																					p.L472L		Atlas-SNP	.											.	ATL3	31	.	0			c.G1416A						.						78.0	80.0	79.0					11																	63398635		1960	4157	6117	SO:0001819	synonymous_variant	25923	exon12			GTTGAACAACTGG		CCDS41663.1, CCDS73309.1	11q13.1	2008-09-17			ENSG00000184743	ENSG00000184743			24526	protein-coding gene	gene with protein product		609369				18270207	Standard	XM_005273891		Approved	DKFZP564J0863	uc001nxk.1	Q6DD88	OTTHUMG00000167854	ENST00000398868.3:c.1416G>A	chr11.hg19:g.63398635C>T		139.0	0.0		177.0	44.0	NM_015459	Q8N7W5|Q9H8Q5|Q9UFL1	Silent	SNP	ENST00000398868.3	hg19	CCDS41663.1																																																																																			.	.		0.502	ATL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396637.1	NM_015459	
PLCB3	5331	hgsc.bcm.edu	37	11	64023957	64023957	+	Missense_Mutation	SNP	T	T	C			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr11:64023957T>C	ENST00000540288.1	+	9	911	c.808T>C	c.(808-810)Tcc>Ccc	p.S270P	PLCB3_ENST00000279230.6_Missense_Mutation_p.S270P|PLCB3_ENST00000325234.5_Missense_Mutation_p.S203P	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	270					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|regulation of systemic arterial blood pressure (GO:0003073)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						CCTGCGGCCCTCCCAGGCCCG	0.637																																					p.S270P		Atlas-SNP	.											.	PLCB3	103	.	0			c.T808C						.						86.0	105.0	99.0					11																	64023957		2200	4295	6495	SO:0001583	missense	5331	exon9			CGGCCCTCCCAGG	Z26649	CCDS8064.1, CCDS53654.1	11q13	2008-03-18			ENSG00000149782	ENSG00000149782	3.1.4.11		9056	protein-coding gene	gene with protein product		600230				7849701	Standard	NM_000932		Approved		uc009ypg.2	Q01970	OTTHUMG00000167816	ENST00000540288.1:c.808T>C	chr11.hg19:g.64023957T>C	ENSP00000443631:p.Ser270Pro	177.0	0.0		248.0	10.0	NM_000932	A5PKZ6|G5E960|Q8N1A4	Missense_Mutation	SNP	ENST00000540288.1	hg19	CCDS8064.1	.	.	.	.	.	.	.	.	.	.	T	18.26	3.583924	0.65992	.	.	ENSG00000149782	ENST00000279230;ENST00000540288;ENST00000325234	T;T;T	0.18960	2.18;2.18;2.18	5.32	4.22	0.49857	Phospholipase C, phosphoinositol-specific, EF-hand-like (1);EF-hand-like domain (1);	0.169628	0.50627	D	0.000105	T	0.18299	0.0439	L	0.34521	1.04	0.39075	D	0.96078	P;P	0.47106	0.89;0.775	B;B	0.44224	0.444;0.318	T	0.02975	-1.1087	10	0.62326	D	0.03	.	9.794	0.40724	0.0:0.0:0.385:0.6149	.	203;270	G5E960;Q01970	.;PLCB3_HUMAN	P	270;270;203	ENSP00000279230:S270P;ENSP00000443631:S270P;ENSP00000324660:S203P	ENSP00000279230:S270P	S	+	1	0	PLCB3	63780533	0.998000	0.40836	1.000000	0.80357	0.958000	0.62258	3.998000	0.57024	2.019000	0.59389	0.459000	0.35465	TCC	.	.		0.637	PLCB3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396405.1		
KCNK4	50801	hgsc.bcm.edu	37	11	64060660	64060660	+	Missense_Mutation	SNP	A	A	G			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr11:64060660A>G	ENST00000539216.1	+	1	530	c.170A>G	c.(169-171)gAg>gGg	p.E57G	KCNK4_ENST00000539651.1_Intron|KCNK4_ENST00000422670.2_Missense_Mutation_p.E57G|KCNK4_ENST00000538767.1_Intron|KCNK4_ENST00000394525.2_Missense_Mutation_p.E57G|Y_RNA_ENST00000384297.1_RNA|RP11-783K16.10_ENST00000539086.1_RNA			Q9NYG8	KCNK4_HUMAN	potassium channel, subfamily K, member 4	57					potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			breast(2)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1)	10						AGCGACCAGGAGCTGGGCCTC	0.682																																					p.E57G		Atlas-SNP	.											.	KCNK4	22	.	0			c.A170G						.						37.0	33.0	34.0					11																	64060660		1832	3455	5287	SO:0001583	missense	50801	exon2			ACCAGGAGCTGGG	AF247042	CCDS8067.1	11q13	2012-03-07			ENSG00000182450	ENSG00000182450		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6279	protein-coding gene	gene with protein product		605720				10767409, 16382106	Standard	NM_033310		Approved	K2p4.1, TRAAK	uc001nzk.1	Q9NYG8	OTTHUMG00000168006	ENST00000539216.1:c.170A>G	chr11.hg19:g.64060660A>G	ENSP00000444948:p.Glu57Gly	106.0	0.0		148.0	6.0	NM_033310	B5TJL1|Q96T94	Missense_Mutation	SNP	ENST00000539216.1	hg19	CCDS8067.1	.	.	.	.	.	.	.	.	.	.	A	14.00	2.404259	0.42613	.	.	ENSG00000182450	ENST00000422670;ENST00000539852;ENST00000394525;ENST00000544845;ENST00000539216	T;T;T	0.18338	2.22;2.22;2.22	4.4	1.79	0.24919	.	0.767534	0.12781	N	0.439687	T	0.14570	0.0352	L	0.52573	1.65	0.09310	N	1	B	0.17667	0.023	B	0.23275	0.045	T	0.28427	-1.0044	10	0.59425	D	0.04	.	3.194	0.06626	0.6281:0.0:0.1979:0.174	.	57	Q9NYG8	KCNK4_HUMAN	G	57;82;57;119;57	ENSP00000402797:E57G;ENSP00000378033:E57G;ENSP00000444948:E57G	ENSP00000378033:E57G	E	+	2	0	KCNK4	63817236	0.243000	0.23878	0.980000	0.43619	0.954000	0.61252	1.457000	0.35212	0.690000	0.31570	0.374000	0.22700	GAG	.	.		0.682	KCNK4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396430.1	NM_033311	
RPS6KB2	6199	hgsc.bcm.edu	37	11	67200857	67200857	+	Missense_Mutation	SNP	T	T	C			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr11:67200857T>C	ENST00000312629.5	+	10	890	c.845T>C	c.(844-846)aTc>aCc	p.I282T	AP003419.16_ENST00000535922.1_RNA	NM_003952.2	NP_003943.2	Q9UBS0	KS6B2_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 2	282	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of translational initiation (GO:0045948)|protein kinase B signaling (GO:0043491)|signal transduction (GO:0007165)|translation (GO:0006412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|peptide binding (GO:0042277)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ribosomal protein S6 kinase activity (GO:0004711)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|salivary_gland(1)|stomach(2)	25			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			GATAAGATCATCAGGGGCAAG	0.632																																					p.I282T		Atlas-SNP	.											.	RPS6KB2	92	.	0			c.T845C						.						100.0	112.0	108.0					11																	67200857		1963	4135	6098	SO:0001583	missense	6199	exon10			AGATCATCAGGGG	AB019245	CCDS41677.1	11q13.1	2011-04-05	2002-08-29		ENSG00000175634	ENSG00000175634			10437	protein-coding gene	gene with protein product		608939	"""ribosomal protein S6 kinase, 70kD, polypeptide 2"""			9878560, 9804755	Standard	XM_005274164		Approved	p70S6Kb, P70-BETA, STK14B, KLS	uc001old.3	Q9UBS0	OTTHUMG00000167673	ENST00000312629.5:c.845T>C	chr11.hg19:g.67200857T>C	ENSP00000308413:p.Ile282Thr	54.0	0.0		90.0	4.0	NM_003952	B2RMZ9|B4DML8|O94809|Q9UEC1	Missense_Mutation	SNP	ENST00000312629.5	hg19	CCDS41677.1	.	.	.	.	.	.	.	.	.	.	T	13.43	2.236110	0.39498	.	.	ENSG00000175634	ENST00000312629	T	0.55052	0.54	5.4	4.2	0.49525	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.387293	0.24156	N	0.041030	T	0.41650	0.1168	N	0.17631	0.505	0.80722	D	1	B;B	0.26041	0.07;0.14	B;B	0.34385	0.073;0.181	T	0.46610	-0.9179	10	0.87932	D	0	.	11.7689	0.51947	0.0:0.0:0.1471:0.8529	.	282;282	Q9BRS0;Q9UBS0	.;KS6B2_HUMAN	T	282	ENSP00000308413:I282T	ENSP00000308413:I282T	I	+	2	0	RPS6KB2	66957433	1.000000	0.71417	0.946000	0.38457	0.330000	0.28571	5.687000	0.68219	2.039000	0.60335	0.459000	0.35465	ATC	.	.		0.632	RPS6KB2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395508.1	NM_003952	
KRTAP5-8	57830	hgsc.bcm.edu	37	11	71249121	71249121	+	Missense_Mutation	SNP	C	C	G	rs200585722		TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr11:71249121C>G	ENST00000398534.3	+	1	51	c.20C>G	c.(19-21)tCt>tGt	p.S7C		NM_021046.2	NP_066384.2	O75690	KRA58_HUMAN	keratin associated protein 5-8	7						keratin filament (GO:0045095)	structural constituent of epidermis (GO:0030280)			cervix(1)|endometrium(1)|lung(2)|skin(1)|stomach(1)	6						TGTGGCTGCTCTGGAGGCTGT	0.657																																					p.S7C		Atlas-SNP	.											.	KRTAP5-8	28	.	0			c.C20G						.						47.0	66.0	60.0					11																	71249121		2189	4282	6471	SO:0001583	missense	57830	exon1			GCTGCTCTGGAGG	AB126077	CCDS41683.1	11q13.4	2008-02-05			ENSG00000241233	ENSG00000241233		"""Keratin associated proteins"""	23603	protein-coding gene	gene with protein product						15144888	Standard	NM_021046		Approved	KRTAP5.8, UHSKerB, KRTAP5-2	uc001oqr.1	O75690	OTTHUMG00000057571	ENST00000398534.3:c.20C>G	chr11.hg19:g.71249121C>G	ENSP00000420723:p.Ser7Cys	176.0	0.0		207.0	21.0	NM_021046	Q6L8G7|Q6UTX6	Missense_Mutation	SNP	ENST00000398534.3	hg19	CCDS41683.1	.	.	.	.	.	.	.	.	.	.	c	3.358	-0.131059	0.06753	.	.	ENSG00000241233	ENST00000398534	T	0.01527	4.8	1.57	1.57	0.23409	.	.	.	.	.	T	0.03564	0.0102	M	0.74389	2.26	0.09310	N	1	P	0.39094	0.659	B	0.43225	0.412	T	0.34204	-0.9838	9	0.62326	D	0.03	.	3.9595	0.09404	0.0:0.775:0.0:0.225	.	7	O75690	KRA58_HUMAN	C	7	ENSP00000420723:S7C	ENSP00000420723:S7C	S	+	2	0	KRTAP5-8	70926769	0.030000	0.19436	0.804000	0.32291	0.223000	0.24884	-0.589000	0.05767	1.182000	0.42928	0.514000	0.50259	TCT	.	.		0.657	KRTAP5-8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127954.1	NM_021046	
ARHGEF17	9828	hgsc.bcm.edu	37	11	73020389	73020389	+	Missense_Mutation	SNP	A	A	T			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr11:73020389A>T	ENST00000263674.3	+	1	1056	c.706A>T	c.(706-708)Atc>Ttc	p.I236F	RP11-800A3.7_ENST00000546324.1_RNA	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	236					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						CTCCTCCTCCATCGCCGCCTC	0.677																																					p.I236F		Atlas-SNP	.											.	ARHGEF17	117	.	0			c.A706T						.						12.0	15.0	14.0					11																	73020389		2048	3983	6031	SO:0001583	missense	9828	exon1			TCCTCCATCGCCG	AF378754	CCDS8221.1	11q13.3	2011-11-16			ENSG00000110237	ENSG00000110237		"""Rho guanine nucleotide exchange factors"""	21726	protein-coding gene	gene with protein product	"""Rho-specific guanine-nucleotide exchange factor 164 kDa"", ""tumor endothelial marker 4"""					11559528, 12071859	Standard	NM_014786		Approved	TEM4, KIAA0337, p164-RhoGEF	uc001otu.3	Q96PE2	OTTHUMG00000167971	ENST00000263674.3:c.706A>T	chr11.hg19:g.73020389A>T	ENSP00000263674:p.Ile236Phe	216.0	0.0		268.0	36.0	NM_014786	B2RP20|Q86XU2|Q8N2S0|Q9Y4G3	Missense_Mutation	SNP	ENST00000263674.3	hg19	CCDS8221.1	.	.	.	.	.	.	.	.	.	.	A	12.21	1.870463	0.33069	.	.	ENSG00000110237	ENST00000263674	T	0.59638	0.25	4.61	0.695	0.18070	.	0.993735	0.08148	N	0.990484	T	0.35480	0.0933	N	0.24115	0.695	0.19775	N	0.999951	P	0.35982	0.531	B	0.24394	0.053	T	0.25117	-1.0141	10	0.54805	T	0.06	-1.1385	5.2264	0.15397	0.6445:0.1573:0.1981:0.0	.	236	Q96PE2	ARHGH_HUMAN	F	236	ENSP00000263674:I236F	ENSP00000263674:I236F	I	+	1	0	ARHGEF17	72698037	0.000000	0.05858	0.765000	0.31456	0.926000	0.56050	-0.104000	0.10923	0.647000	0.30713	0.379000	0.24179	ATC	.	.		0.677	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397365.1	NM_014786	
TENM4	26011	hgsc.bcm.edu	37	11	78482151	78482151	+	Nonsense_Mutation	SNP	T	T	A			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr11:78482151T>A	ENST00000278550.7	-	18	2887	c.2425A>T	c.(2425-2427)Aga>Tga	p.R809*		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	809	EGF-like 8. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)										AAGGTACATCTGCCGTTGCCA	0.552																																					p.R809X		Atlas-SNP	.											.	.	.	.	0			c.A2425T						.						55.0	57.0	56.0					11																	78482151		2142	4233	6375	SO:0001587	stop_gained	26011	exon18			TACATCTGCCGTT	AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"""odz, odd Oz/ten-m homolog 4 (Drosophila)"""	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.2425A>T	chr11.hg19:g.78482151T>A	ENSP00000278550:p.Arg809*	111.0	0.0		175.0	35.0	NM_001098816	A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Nonsense_Mutation	SNP	ENST00000278550.7	hg19	CCDS44688.1	.	.	.	.	.	.	.	.	.	.	T	44	10.732393	0.99458	.	.	ENSG00000149256	ENST00000278550	.	.	.	5.24	4.06	0.47325	.	0.045968	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.4811	0.55842	0.0:0.0:0.1389:0.8611	.	.	.	.	X	809	.	.	R	-	1	2	ODZ4	78159799	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.291000	0.51764	2.200000	0.70718	0.459000	0.35465	AGA	.	.		0.552	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391406.2		
DDIAS	220042	hgsc.bcm.edu	37	11	82644461	82644461	+	Missense_Mutation	SNP	C	C	T			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr11:82644461C>T	ENST00000533655.1	+	6	2293	c.2081C>T	c.(2080-2082)aCc>aTc	p.T694I	C11orf82_ENST00000528759.1_3'UTR|C11orf82_ENST00000525361.1_Intron|C11orf82_ENST00000430323.2_Missense_Mutation_p.T694I|C11orf82_ENST00000329143.3_Missense_Mutation_p.T393I	NM_145018.3	NP_659455.3	Q8IXT1	DDIAS_HUMAN		694					apoptotic process (GO:0006915)|cellular response to cytokine stimulus (GO:0071345)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to hydroperoxide (GO:0071447)|cellular response to UV (GO:0034644)|hemopoiesis (GO:0030097)|mitotic cell cycle arrest (GO:0071850)|negative regulation of fibroblast apoptotic process (GO:2000270)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						ACTGAGATTACCAAAAAATCA	0.373																																					p.T694I		Atlas-SNP	.											.	C11orf82	71	.	0			c.C2081T						.						125.0	124.0	125.0					11																	82644461		2203	4299	6502	SO:0001583	missense	220042	exon6			AGATTACCAAAAA																												ENST00000533655.1:c.2081C>T	chr11.hg19:g.82644461C>T	ENSP00000435421:p.Thr694Ile	80.0	0.0		72.0	34.0	NM_145018	Q96LK6|Q9H856	Missense_Mutation	SNP	ENST00000533655.1	hg19	CCDS8263.1	.	.	.	.	.	.	.	.	.	.	C	11.09	1.535677	0.27475	.	.	ENSG00000165490	ENST00000430323;ENST00000533655;ENST00000329143	T;T;T	0.18338	2.49;2.49;2.22	6.16	2.9	0.33743	.	0.493879	0.21442	N	0.074468	T	0.13628	0.0330	L	0.45581	1.43	0.09310	N	1	B	0.21071	0.051	B	0.16722	0.016	T	0.19549	-1.0302	9	.	.	.	-0.4458	7.5526	0.27806	0.0:0.6471:0.0:0.3529	.	694	Q8IXT1	NOXIN_HUMAN	I	694;694;393	ENSP00000414687:T694I;ENSP00000435421:T694I;ENSP00000329930:T393I	.	T	+	2	0	C11orf82	82322109	0.003000	0.15002	0.060000	0.19600	0.663000	0.39108	0.461000	0.21940	0.946000	0.37632	0.650000	0.86243	ACC	.	.		0.373	C11orf82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391936.1		
CCDC67	159989	hgsc.bcm.edu	37	11	93088638	93088638	+	Missense_Mutation	SNP	A	A	G			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr11:93088638A>G	ENST00000298050.3	+	3	231	c.131A>G	c.(130-132)gAg>gGg	p.E44G	CCDC67_ENST00000527307.1_Missense_Mutation_p.E44G|CCDC67_ENST00000530053.1_3'UTR	NM_181645.3	NP_857596.2	Q05D60	DEUP1_HUMAN	coiled-coil domain containing 67	44					cell projection organization (GO:0030030)|de novo centriole assembly (GO:0098535)	cytoplasm (GO:0005737)|deuterosome (GO:0098536)				endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				CGGGCTTTGGAGACACGATTA	0.393																																					p.E44G		Atlas-SNP	.											.	CCDC67	57	.	0			c.A131G						.						110.0	110.0	110.0					11																	93088638		1876	4099	5975	SO:0001583	missense	159989	exon3			CTTTGGAGACACG	AK058122	CCDS44707.1	11q21	2014-02-20				ENSG00000165325			26344	protein-coding gene	gene with protein product						24240477	Standard	NM_181645		Approved	FLJ25393	uc001pdq.3	Q05D60		ENST00000298050.3:c.131A>G	chr11.hg19:g.93088638A>G	ENSP00000298050:p.Glu44Gly	106.0	0.0		149.0	6.0	NM_181645	Q8NEF1|Q96LL7	Missense_Mutation	SNP	ENST00000298050.3	hg19	CCDS44707.1	.	.	.	.	.	.	.	.	.	.	A	26.2	4.716677	0.89205	.	.	ENSG00000165325	ENST00000534747;ENST00000298050;ENST00000532819;ENST00000527307	T;T;T;T	0.24723	1.84;1.84;1.84;1.84	5.54	5.54	0.83059	.	0.000000	0.64402	D	0.000001	T	0.50752	0.1634	M	0.70595	2.14	0.44295	D	0.997164	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.74674	0.984;0.984;0.984	T	0.53995	-0.8359	10	0.72032	D	0.01	.	15.6625	0.77199	1.0:0.0:0.0:0.0	.	44;44;36	Q05D60;E9PJR5;Q6ZRU6	CCD67_HUMAN;.;.	G	44	ENSP00000432111:E44G;ENSP00000298050:E44G;ENSP00000434635:E44G;ENSP00000433002:E44G	ENSP00000298050:E44G	E	+	2	0	CCDC67	92728286	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.336000	0.72954	2.114000	0.64651	0.402000	0.26972	GAG	.	.		0.393	CCDC67-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_181645	
MAML2	84441	hgsc.bcm.edu	37	11	95825422	95825422	+	Silent	SNP	C	C	T	rs200834136		TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr11:95825422C>T	ENST00000524717.1	-	2	3057	c.1773G>A	c.(1771-1773)caG>caA	p.Q591Q		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	591					gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	Golgi apparatus (GO:0005794)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)		CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				gctgttgctgctgttgctgTT	0.507			T	"""MECT1, CRTC3"""	salivary gland mucoepidermoid																																p.Q591Q		Atlas-SNP	.		Dom	yes		11	11q22-q23	84441	mastermind-like 2 (Drosophila)		E	.	MAML2	94	.	0			c.G1773A						.						50.0	54.0	53.0					11																	95825422		2171	4250	6421	SO:0001819	synonymous_variant	84441	exon2			TTGCTGCTGTTGC	AB058722	CCDS44714.1	11q	2008-02-05	2001-11-28		ENSG00000184384	ENSG00000184384			16259	protein-coding gene	gene with protein product		607537	"""mastermind (Drosophila)-like 2"""			12370315, 12386158	Standard	NM_032427		Approved	KIAA1819, MAM3	uc001pfw.1	Q8IZL2	OTTHUMG00000167677	ENST00000524717.1:c.1773G>A	chr11.hg19:g.95825422C>T		152.0	0.0		201.0	12.0	NM_032427	A7MD26|Q6AI23|Q6Y3A3|Q8IUL3|Q96JK6	Silent	SNP	ENST00000524717.1	hg19	CCDS44714.1																																																																																			.	.		0.507	MAML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395540.1		
MMP3	4314	hgsc.bcm.edu	37	11	102713260	102713260	+	Missense_Mutation	SNP	A	A	T			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr11:102713260A>T	ENST00000299855.5	-	3	657	c.401T>A	c.(400-402)gTt>gAt	p.V134D		NM_002422.3	NP_002413.1	P08254	MMP3_HUMAN	matrix metallopeptidase 3 (stromelysin 1, progelatinase)	134					cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of hydrogen peroxide metabolic process (GO:0010727)|positive regulation of oxidative stress-induced cell death (GO:1903209)|proteolysis (GO:0006508)|regulation of cell migration (GO:0030334)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)	AGCTTTCTCAACAGCAGAATC	0.398																																					p.V134D		Atlas-SNP	.											.	MMP3	60	.	0			c.T401A						.						114.0	114.0	114.0					11																	102713260		2203	4299	6502	SO:0001583	missense	4314	exon3			TTCTCAACAGCAG	X05232	CCDS8323.1	11q22.3	2012-10-02	2005-08-08		ENSG00000149968	ENSG00000149968	3.4.24.17		7173	protein-coding gene	gene with protein product		185250	"""matrix metalloproteinase 3 (stromelysin 1, progelatinase)"""	STMY1, STMY			Standard	NM_002422		Approved		uc001phj.1	P08254	OTTHUMG00000048254	ENST00000299855.5:c.401T>A	chr11.hg19:g.102713260A>T	ENSP00000299855:p.Val134Asp	154.0	0.0		178.0	39.0	NM_002422	B2R8B8|Q3B7S0|Q6GRF8	Missense_Mutation	SNP	ENST00000299855.5	hg19	CCDS8323.1	.	.	.	.	.	.	.	.	.	.	A	26.5	4.747933	0.89663	.	.	ENSG00000149968	ENST00000299855	T	0.25085	1.82	6.16	6.16	0.99307	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.697800	0.11566	N	0.551276	T	0.59238	0.2179	M	0.86740	2.835	0.80722	D	1	D	0.76494	0.999	D	0.67103	0.949	T	0.60276	-0.7295	10	0.87932	D	0	.	16.8061	0.85666	1.0:0.0:0.0:0.0	.	134	P08254	MMP3_HUMAN	D	134	ENSP00000299855:V134D	ENSP00000299855:V134D	V	-	2	0	MMP3	102218470	0.986000	0.35501	1.000000	0.80357	0.812000	0.45895	9.307000	0.96226	2.367000	0.80283	0.528000	0.53228	GTT	.	.		0.398	MMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109758.2	NM_002422	
ALKBH8	91801	hgsc.bcm.edu	37	11	107420510	107420510	+	Missense_Mutation	SNP	T	T	C			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr11:107420510T>C	ENST00000428149.2	-	7	891	c.740A>G	c.(739-741)gAt>gGt	p.D247G	ALKBH8_ENST00000389568.3_Missense_Mutation_p.D247G|ALKBH8_ENST00000429370.1_Intron|ALKBH8_ENST00000417449.2_Missense_Mutation_p.D250G	NM_138775.2	NP_620130.2	Q96BT7	ALKB8_HUMAN	alkB, alkylation repair homolog 8 (E. coli)	247	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.				cellular response to DNA damage stimulus (GO:0006974)|tRNA methylation (GO:0030488)	cytosol (GO:0005829)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|RNA binding (GO:0003723)|tRNA (uracil) methyltransferase activity (GO:0016300)			breast(2)|large_intestine(2)|lung(5)	9		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00512)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.53e-05)|Epithelial(105;0.00029)|all cancers(92;0.00518)		AACGATCTCATCCTCAAAAGC	0.373																																					p.D247G		Atlas-SNP	.											.	ALKBH8	88	.	0			c.A740G						.						119.0	103.0	108.0					11																	107420510		692	1591	2283	SO:0001583	missense	91801	exon7			ATCTCATCCTCAA	AF086489	CCDS8337.2, CCDS73376.1	11q22.3	2013-10-04			ENSG00000137760	ENSG00000137760	2.1.1.229	"""Alkylation repair homologs"", ""RNA binding motif (RRM) containing"""	25189	protein-coding gene	gene with protein product		613306				20123966	Standard	NM_138775		Approved	MGC10235	uc009yxp.3	Q96BT7	OTTHUMG00000157008	ENST00000428149.2:c.740A>G	chr11.hg19:g.107420510T>C	ENSP00000415885:p.Asp247Gly	59.0	0.0		91.0	4.0	NM_138775	B1Q2M0|B4DEF6|Q8N989	Missense_Mutation	SNP	ENST00000428149.2	hg19	CCDS8337.2	.	.	.	.	.	.	.	.	.	.	T	21.1	4.090938	0.76756	.	.	ENSG00000137760	ENST00000428149;ENST00000389568;ENST00000417449	T;T;T	0.30182	1.54;1.54;1.54	5.95	5.95	0.96441	Oxoglutarate/iron-dependent oxygenase (2);	0.093564	0.64402	D	0.000001	T	0.36248	0.0960	M	0.68728	2.09	0.80722	D	1	B	0.21606	0.058	B	0.25405	0.06	T	0.09314	-1.0680	10	0.37606	T	0.19	-4.0789	15.6031	0.76639	0.0:0.0:0.0:1.0	.	247	Q96BT7	ALKB8_HUMAN	G	247;247;250	ENSP00000415885:D247G;ENSP00000374219:D247G;ENSP00000397673:D250G	ENSP00000374219:D247G	D	-	2	0	ALKBH8	106925720	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.156000	0.64905	2.277000	0.76020	0.528000	0.53228	GAT	.	.		0.373	ALKBH8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347071.2	NM_138775	
POU2AF1	5450	hgsc.bcm.edu	37	11	111224991	111224991	+	Missense_Mutation	SNP	A	A	G			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr11:111224991A>G	ENST00000393067.3	-	5	1280	c.766T>C	c.(766-768)Ttt>Ctt	p.F256L		NM_006235.2	NP_006226.2	Q16633	OBF1_HUMAN	POU class 2 associating factor 1	256					humoral immune response (GO:0006959)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			breast(1)|kidney(2)|lung(2)	5		all_cancers(61;1.36e-12)|all_epithelial(67;1.87e-07)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|all_neural(223;0.0146)|Medulloblastoma(222;0.0245)|Breast(348;0.0389)		Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;3.12e-06)|all cancers(92;1.8e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0364)		CACGCCTAAAAGCCTTCCACA	0.522			T	BCL6	NHL																																p.F256L		Atlas-SNP	.		Dom	yes		11	11q23.1	5450	"""POU domain, class 2, associating factor 1 (OBF1)"""		L	.	POU2AF1	23	.	0			c.T766C						.						54.0	46.0	48.0					11																	111224991		2201	4297	6498	SO:0001583	missense	5450	exon5			CCTAAAAGCCTTC		CCDS31675.1	11q23.1	2011-06-01	2007-07-13			ENSG00000110777			9211	protein-coding gene	gene with protein product		601206	"""POU domain class 2, associating factor 1"""			8617501	Standard	NM_006235		Approved	OBF1	uc001plg.4	Q16633		ENST00000393067.3:c.766T>C	chr11.hg19:g.111224991A>G	ENSP00000376786:p.Phe256Leu	103.0	0.0		100.0	4.0	NM_006235	B2R8Z9|Q14983	Missense_Mutation	SNP	ENST00000393067.3	hg19	CCDS31675.1	.	.	.	.	.	.	.	.	.	.	A	16.60	3.168610	0.57584	.	.	ENSG00000110777	ENST00000393067	T	0.33438	1.41	5.07	5.07	0.68467	.	0.067100	0.56097	D	0.000023	T	0.18383	0.0441	L	0.35414	1.06	0.32621	N	0.523283	B	0.12013	0.005	B	0.12837	0.008	T	0.20706	-1.0267	10	0.11485	T	0.65	-36.7508	5.383	0.16201	0.7844:0.0:0.2156:0.0	.	256	Q16633	OBF1_HUMAN	L	256	ENSP00000376786:F256L	ENSP00000376786:F256L	F	-	1	0	POU2AF1	110730201	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	2.798000	0.47884	2.122000	0.65172	0.533000	0.62120	TTT	.	.		0.522	POU2AF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391002.1	NM_006235	
VWA5A	4013	hgsc.bcm.edu	37	11	124013281	124013281	+	Splice_Site	SNP	T	T	A			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr11:124013281T>A	ENST00000456829.2	+	17	2405		c.e17+2		VWA5A_ENST00000392748.1_Splice_Site|VWA5A_ENST00000360334.4_Splice_Site	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A											autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						CCTGCCGAGGTAAGATTCAAT	0.423																																					.		Atlas-SNP	.											.	VWA5A	102	.	0			c.2154+2T>A						.						98.0	93.0	94.0					11																	124013281		2201	4299	6500	SO:0001630	splice_region_variant	4013	exon16			CCGAGGTAAGATT	AF002672	CCDS8444.1, CCDS8445.1	11q24.1	2008-07-25	2008-07-25	2008-07-25	ENSG00000110002	ENSG00000110002			6658	protein-coding gene	gene with protein product		602929	"""loss of heterozygosity, 11, chromosomal region 2, gene A"""	LOH11CR2A		9417908, 14504409	Standard	NM_001130142		Approved	BCSC-1	uc001pzt.3	O00534	OTTHUMG00000165971	ENST00000456829.2:c.2154+2T>A	chr11.hg19:g.124013281T>A		49.0	0.0		69.0	4.0	NM_014622	Q6UN19|Q6UN20|Q9BVF8	Splice_Site	SNP	ENST00000456829.2	hg19	CCDS8444.1	.	.	.	.	.	.	.	.	.	.	T	11.76	1.735418	0.30774	.	.	ENSG00000110002	ENST00000456829;ENST00000392748	.	.	.	5.29	5.29	0.74685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.8862	0.52604	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	VWA5A	123518491	1.000000	0.71417	0.960000	0.40013	0.104000	0.19210	3.817000	0.55668	2.131000	0.65755	0.459000	0.35465	.	.	.		0.423	VWA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387273.1	NM_014622	Intron
OR8D2	283160	hgsc.bcm.edu	37	11	124189739	124189739	+	Missense_Mutation	SNP	C	C	T			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr11:124189739C>T	ENST00000357438.2	-	1	445	c.355G>A	c.(355-357)Gaa>Aaa	p.E119K		NM_001002918.1	NP_001002918.1	Q9GZM6	OR8D2_HUMAN	olfactory receptor, family 8, subfamily D, member 2	119						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)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)		CGGTCATATTCCATGGCTGTC	0.418																																					p.E119K		Atlas-SNP	.											OR8D2,NS,lymphoid_neoplasm,0,1	OR8D2	65	.	0			c.G355A						.						85.0	81.0	82.0					11																	124189739		2201	4299	6500	SO:0001583	missense	283160	exon1			CATATTCCATGGC	AF162668	CCDS31707.1	11q24.1	2012-08-09			ENSG00000197263	ENSG00000197263		"""GPCR / Class A : Olfactory receptors"""	8482	protein-coding gene	gene with protein product							Standard	NM_001002918		Approved		uc010sah.2	Q9GZM6	OTTHUMG00000165978	ENST00000357438.2:c.355G>A	chr11.hg19:g.124189739C>T	ENSP00000350022:p.Glu119Lys	55.0	0.0		45.0	22.0	NM_001002918	B9EH49|Q6IFR0	Missense_Mutation	SNP	ENST00000357438.2	hg19	CCDS31707.1	.	.	.	.	.	.	.	.	.	.	c	12.08	1.829188	0.32329	.	.	ENSG00000197263	ENST00000357438	T	0.36878	1.23	3.73	2.81	0.32909	GPCR, rhodopsin-like superfamily (1);	0.138494	0.32703	N	0.005757	T	0.19846	0.0477	N	0.08118	0	0.32254	N	0.571002	B	0.02656	0.0	B	0.01281	0.0	T	0.19063	-1.0317	10	0.87932	D	0	.	12.0269	0.53375	0.0:0.9107:0.0:0.0893	.	119	Q9GZM6	OR8D2_HUMAN	K	119	ENSP00000350022:E119K	ENSP00000350022:E119K	E	-	1	0	OR8D2	123694949	1.000000	0.71417	0.957000	0.39632	0.199000	0.23934	1.436000	0.34980	1.177000	0.42855	0.530000	0.56133	GAA	.	.		0.418	OR8D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387286.1	NM_001002918	
PRDM10	56980	hgsc.bcm.edu	37	11	129825426	129825426	+	Missense_Mutation	SNP	T	T	C			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr11:129825426T>C	ENST00000360871.3	-	4	506	c.275A>G	c.(274-276)cAg>cGg	p.Q92R	PRDM10_ENST00000528746.1_Missense_Mutation_p.Q92R|PRDM10_ENST00000358825.5_Missense_Mutation_p.Q92R	NM_199437.1	NP_955469.1	Q9NQV6	PRD10_HUMAN	PR domain containing 10	92					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		TGTAGCATCCTGTTGGACATA	0.473																																					p.Q92R		Atlas-SNP	.											.	PRDM10	120	.	0			c.A275G						.						156.0	121.0	133.0					11																	129825426		2201	4297	6498	SO:0001583	missense	56980	exon4			GCATCCTGTTGGA	AF275817	CCDS8484.1, CCDS8485.1, CCDS44771.1, CCDS44772.1	11q24.3	2013-01-08			ENSG00000170325	ENSG00000170325		"""Zinc fingers, C2H2-type"""	13995	protein-coding gene	gene with protein product	"""PRDM zinc finger transcription factor"", ""PR-domain family member 7"", ""tristanin"""					12175877	Standard	NM_020228		Approved	KIAA1231, PFM7, MGC131802	uc001qfm.3	Q9NQV6	OTTHUMG00000165762	ENST00000360871.3:c.275A>G	chr11.hg19:g.129825426T>C	ENSP00000354118:p.Gln92Arg	105.0	0.0		97.0	4.0	NM_020228	B7ZL71|G3XAE5|J3KP23|Q17R90|Q2KHR4|Q863Z2|Q9NXI4|Q9ULI9	Missense_Mutation	SNP	ENST00000360871.3	hg19	CCDS8484.1	.	.	.	.	.	.	.	.	.	.	T	17.19	3.326937	0.60743	.	.	ENSG00000170325	ENST00000358825;ENST00000360871;ENST00000528746;ENST00000531431	T;T;T;T	0.51071	1.09;1.09;2.79;0.72	5.31	5.31	0.75309	.	0.158633	0.44902	D	0.000411	T	0.54498	0.1862	N	0.24115	0.695	0.80722	D	1	D;D;B	0.63046	0.992;0.981;0.281	D;D;B	0.72982	0.979;0.969;0.056	T	0.60100	-0.7329	10	0.87932	D	0	-24.6945	13.8234	0.63336	0.0:0.0:0.0:1.0	.	92;92;92	Q9NQV6-4;G3XAE5;Q9NQV6	.;.;PRD10_HUMAN	R	92	ENSP00000351686:Q92R;ENSP00000354118:Q92R;ENSP00000431262:Q92R;ENSP00000436681:Q92R	ENSP00000351686:Q92R	Q	-	2	0	PRDM10	129330636	1.000000	0.71417	0.999000	0.59377	0.945000	0.59286	7.389000	0.79806	2.013000	0.59113	0.533000	0.62120	CAG	.	.		0.473	PRDM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386076.1	NM_199437	
NCAPD3	23310	hgsc.bcm.edu	37	11	134072793	134072793	+	Silent	SNP	G	G	A			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr11:134072793G>A	ENST00000534548.2	-	13	1597	c.1533C>T	c.(1531-1533)tcC>tcT	p.S511S		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	511					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	germinal vesicle (GO:0042585)|membrane (GO:0016020)|nuclear condensin complex (GO:0000799)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)	methylated histone binding (GO:0035064)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		GCCTTTGGTAGGAAAAAGCTT	0.353																																					p.S511S		Atlas-SNP	.											.	NCAPD3	141	.	0			c.C1533T						.						109.0	104.0	106.0					11																	134072793		2201	4297	6498	SO:0001819	synonymous_variant	23310	exon13			TTGGTAGGAAAAA	AK124878	CCDS31723.1	11q25	2008-02-04			ENSG00000151503	ENSG00000151503			28952	protein-coding gene	gene with protein product		609276				7584044, 8619474, 14532007	Standard	NM_015261		Approved	hCAP-D3, CAP-D3, hHCP-6, KIAA0056, FLJ42888, hcp-6	uc001qhd.1	P42695	OTTHUMG00000167172	ENST00000534548.2:c.1533C>T	chr11.hg19:g.134072793G>A		109.0	0.0		80.0	8.0	NM_015261	A6NFS2|Q4KMQ9	Silent	SNP	ENST00000534548.2	hg19	CCDS31723.1																																																																																			.	.		0.353	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393575.2	NM_015261	
YBX3	8531	hgsc.bcm.edu	37	12	10853935	10853935	+	Silent	SNP	T	T	C			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr12:10853935T>C	ENST00000228251.4	-	9	1271	c.1071A>G	c.(1069-1071)gcA>gcG	p.A357A	YBX3_ENST00000546164.1_5'UTR|YBX3_ENST00000279550.7_Silent_p.A288A	NM_003651.4	NP_003642.3	P16989	YBOX3_HUMAN	Y box binding protein 3	357					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)										TCTCAGTTGGTGCTTCACCTG	0.493																																					p.A357A		Atlas-SNP	.											.	CSDA	35	.	0			c.A1071G						.						110.0	93.0	99.0					12																	10853935		2203	4300	6503	SO:0001819	synonymous_variant	8531	exon9			AGTTGGTGCTTCA	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.1071A>G	chr12.hg19:g.10853935T>C		86.0	0.0		102.0	5.0	NM_003651	B2RBW6|Q14121|Q969N6|Q96B76	Silent	SNP	ENST00000228251.4	hg19	CCDS8630.1																																																																																			.	.		0.493	YBX3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399628.1	NM_003651	
WBP11	51729	hgsc.bcm.edu	37	12	14954258	14954258	+	Silent	SNP	T	T	C			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr12:14954258T>C	ENST00000261167.2	-	2	293	c.60A>G	c.(58-60)caA>caG	p.Q20Q	C12orf60_ENST00000330828.2_5'Flank	NM_016312.2	NP_057396.1	Q9Y2W2	WBP11_HUMAN	WW domain binding protein 11	20	Required for nuclear import. {ECO:0000250}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein phosphatase type 1 regulator activity (GO:0008599)|single-stranded DNA binding (GO:0003697)|WW domain binding (GO:0050699)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						ACTTACGGGCTTGGTCTGTGG	0.373																																					p.Q20Q		Atlas-SNP	.											.	WBP11	66	.	0			c.A60G						.						174.0	166.0	169.0					12																	14954258		2203	4300	6503	SO:0001819	synonymous_variant	51729	exon2			ACGGGCTTGGTCT	AB029309	CCDS8666.1	12p12.3	2014-06-13			ENSG00000084463	ENSG00000084463			16461	protein-coding gene	gene with protein product	"""splicing factor, PQBP1 and PP1 interacting"", ""protein phosphatase 1, regulatory subunit 165"""					10593949	Standard	NM_016312		Approved	NPWBP, SIPP1, PPP1R165	uc001rci.3	Q9Y2W2	OTTHUMG00000168737	ENST00000261167.2:c.60A>G	chr12.hg19:g.14954258T>C		110.0	0.0		97.0	4.0	NM_016312	Q96AY8	Silent	SNP	ENST00000261167.2	hg19	CCDS8666.1																																																																																			.	.		0.373	WBP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400850.1	NM_016312	
PLCZ1	89869	hgsc.bcm.edu	37	12	18876412	18876412	+	Missense_Mutation	SNP	A	A	G			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr12:18876412A>G	ENST00000266505.7	-	4	463	c.200T>C	c.(199-201)aTc>aCc	p.I67T	RP11-361I14.2_ENST00000536931.1_RNA|PLCZ1_ENST00000435379.1_Intron|PLCZ1_ENST00000447925.2_Missense_Mutation_p.I65T|PLCZ1_ENST00000539875.1_Intron					phospholipase C, zeta 1											NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					TCTGTGCGTGATAATTCGATA	0.353																																					p.I67T		Atlas-SNP	.											.	PLCZ1	107	.	0			c.T200C						.						91.0	92.0	92.0					12																	18876412		2202	4297	6499	SO:0001583	missense	89869	exon4			TGCGTGATAATTC	AY035866	CCDS8680.1	12p13.31	2013-01-10			ENSG00000139151	ENSG00000139151	3.1.4.11	"""EF-hand domain containing"""	19218	protein-coding gene	gene with protein product		608075				12117804	Standard	NM_033123		Approved	NYD-SP27, PLCzeta	uc021qvx.2	Q86YW0	OTTHUMG00000168937	ENST00000266505.7:c.200T>C	chr12.hg19:g.18876412A>G	ENSP00000266505:p.Ile67Thr	92.0	0.0		69.0	4.0	NM_033123		Missense_Mutation	SNP	ENST00000266505.7	hg19	CCDS8680.1	.	.	.	.	.	.	.	.	.	.	A	13.24	2.177296	0.38413	.	.	ENSG00000139151	ENST00000266505;ENST00000447925	T;T	0.47177	0.85;0.85	5.02	5.02	0.67125	EF-hand-like domain (1);	0.227351	0.30177	N	0.010240	T	0.55940	0.1952	M	0.64997	1.995	0.58432	D	0.999997	D	0.57899	0.981	P	0.52109	0.69	T	0.61505	-0.7049	10	0.87932	D	0	.	12.472	0.55792	1.0:0.0:0.0:0.0	.	67	Q86YW0	PLCZ1_HUMAN	T	67;65	ENSP00000266505:I67T;ENSP00000402358:I65T	ENSP00000266505:I67T	I	-	2	0	PLCZ1	18767679	0.231000	0.23751	0.913000	0.36048	0.121000	0.20230	5.736000	0.68597	1.884000	0.54569	0.460000	0.39030	ATC	.	.		0.353	PLCZ1-001	KNOWN	NAGNAG_splice_site|non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401667.3	NM_033123	
ITPR2	3709	hgsc.bcm.edu	37	12	26647249	26647249	+	Missense_Mutation	SNP	T	T	A			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr12:26647249T>A	ENST00000381340.3	-	39	5623	c.5207A>T	c.(5206-5208)gAt>gTt	p.D1736V		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1736					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	CCCCATCTTATCTGAATCTTG	0.323																																					p.D1736V		Atlas-SNP	.											.	ITPR2	270	.	0			c.A5207T						.						88.0	72.0	77.0					12																	26647249		1824	4085	5909	SO:0001583	missense	3709	exon39			ATCTTATCTGAAT	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.5207A>T	chr12.hg19:g.26647249T>A	ENSP00000370744:p.Asp1736Val	54.0	0.0		64.0	19.0	NM_002223	O94773	Missense_Mutation	SNP	ENST00000381340.3	hg19	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	T	14.21	2.468170	0.43839	.	.	ENSG00000123104	ENST00000381340	D	0.89875	-2.58	3.97	3.97	0.46021	.	1.683260	0.02614	N	0.102516	D	0.92541	0.7631	L	0.50333	1.59	0.80722	D	1	D	0.56746	0.977	P	0.60682	0.878	T	0.83357	-0.0000	10	0.33940	T	0.23	.	12.4741	0.55803	0.0:0.0:0.0:1.0	.	1736	Q14571	ITPR2_HUMAN	V	1736	ENSP00000370744:D1736V	ENSP00000370744:D1736V	D	-	2	0	ITPR2	26538516	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.404000	0.79996	2.026000	0.59711	0.482000	0.46254	GAT	.	.		0.323	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223	
BICD1	636	hgsc.bcm.edu	37	12	32458899	32458899	+	Missense_Mutation	SNP	A	A	G			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr12:32458899A>G	ENST00000281474.5	+	4	951	c.848A>G	c.(847-849)gAc>gGc	p.D283G	BICD1_ENST00000548411.1_Missense_Mutation_p.D283G	NM_001714.2	NP_001705.2	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	283					anatomical structure morphogenesis (GO:0009653)|intracellular mRNA localization (GO:0008298)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of phospholipase C-activating G-protein coupled receptor signaling pathway (GO:1900737)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein localization to organelle (GO:0033365)|regulation of proteinase activated receptor activity (GO:1900276)|RNA processing (GO:0006396)|stress granule assembly (GO:0034063)|viral process (GO:0016032)	cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|host cell viral assembly compartment (GO:0072517)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	cytoskeletal adaptor activity (GO:0008093)|dynactin binding (GO:0034452)|dynein binding (GO:0045502)|proteinase activated receptor binding (GO:0031871)|Rab GTPase binding (GO:0017137)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			AACAATGATGACAAAATGAAC	0.458																																					p.D283G		Atlas-SNP	.											.	BICD1	89	.	0			c.A848G						.						115.0	111.0	112.0					12																	32458899		2203	4300	6503	SO:0001583	missense	636	exon4			ATGATGACAAAAT	U90028	CCDS8726.1, CCDS44859.1	12p11.2-p11.1	2005-01-13	2001-11-28			ENSG00000151746			1049	protein-coding gene	gene with protein product		602204	"""Bicaudal D (Drosophila) homolog 1"""			9367685	Standard	NM_001714		Approved		uc001rku.3	Q96G01	OTTHUMG00000169307	ENST00000281474.5:c.848A>G	chr12.hg19:g.32458899A>G	ENSP00000281474:p.Asp283Gly	77.0	0.0		70.0	4.0	NM_001714	A8K2C3|F8W113|O43892|O43893	Missense_Mutation	SNP	ENST00000281474.5	hg19	CCDS8726.1	.	.	.	.	.	.	.	.	.	.	A	15.35	2.808403	0.50421	.	.	ENSG00000151746	ENST00000548411;ENST00000281474	T;T	0.47177	0.85;0.85	4.59	4.59	0.56863	.	0.182670	0.47852	D	0.000216	T	0.47838	0.1467	L	0.53671	1.685	0.80722	D	1	B;B	0.31459	0.13;0.324	B;B	0.37198	0.112;0.243	T	0.49194	-0.8965	10	0.41790	T	0.15	.	14.4981	0.67702	1.0:0.0:0.0:0.0	.	283;283	F8W113;Q96G01	.;BICD1_HUMAN	G	283	ENSP00000446793:D283G;ENSP00000281474:D283G	ENSP00000281474:D283G	D	+	2	0	BICD1	32350166	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.101000	0.76997	2.074000	0.62210	0.529000	0.55759	GAC	.	.		0.458	BICD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403380.1	NM_001714	
DNAJC22	79962	hgsc.bcm.edu	37	12	49743308	49743308	+	Missense_Mutation	SNP	T	T	A			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr12:49743308T>A	ENST00000549441.2	+	3	1857	c.653T>A	c.(652-654)tTc>tAc	p.F218Y	DNAJC22_ENST00000395069.3_Missense_Mutation_p.F218Y			Q8N4W6	DJC22_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 22	218						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(1)|ovary(1)|pancreas(1)	10						TTTGGCTCCTTCTTGAATTGG	0.562																																					p.F218Y		Atlas-SNP	.											.	DNAJC22	29	.	0			c.T653A						.						177.0	172.0	174.0					12																	49743308		2203	4300	6503	SO:0001583	missense	79962	exon2			GCTCCTTCTTGAA	AK055747	CCDS8785.1	12q13.12	2011-09-02		2008-07-08	ENSG00000178401	ENSG00000178401		"""Heat shock proteins / DNAJ (HSP40)"""	25802	protein-coding gene	gene with protein product	"""wurst homolog (Drosophila)"""					17558392	Standard	NM_024902		Approved	wus, FLJ13236	uc001rua.3	Q8N4W6		ENST00000549441.2:c.653T>A	chr12.hg19:g.49743308T>A	ENSP00000446830:p.Phe218Tyr	129.0	0.0		121.0	8.0	NM_024902	B3KP54	Missense_Mutation	SNP	ENST00000549441.2	hg19	CCDS8785.1	.	.	.	.	.	.	.	.	.	.	T	17.10	3.302358	0.60195	.	.	ENSG00000178401	ENST00000549441;ENST00000395069	T;T	0.43688	0.94;0.94	4.76	4.76	0.60689	.	0.315552	0.35436	N	0.003206	T	0.40473	0.1118	L	0.51422	1.61	0.41228	D	0.986552	B	0.24721	0.11	B	0.27170	0.077	T	0.41787	-0.9489	10	0.87932	D	0	-7.8231	13.5448	0.61697	0.0:0.0:0.0:1.0	.	218	Q8N4W6	DJC22_HUMAN	Y	218	ENSP00000446830:F218Y;ENSP00000378508:F218Y	ENSP00000378508:F218Y	F	+	2	0	DNAJC22	48029575	0.998000	0.40836	0.987000	0.45799	0.968000	0.65278	5.257000	0.65473	1.900000	0.55004	0.459000	0.35465	TTC	.	.		0.562	DNAJC22-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404302.2	NM_024902	
LARP4	113251	hgsc.bcm.edu	37	12	50822863	50822863	+	Silent	SNP	T	T	C			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr12:50822863T>C	ENST00000398473.2	+	3	424	c.312T>C	c.(310-312)taT>taC	p.Y104Y	LARP4_ENST00000518561.1_Silent_p.Y34Y|LARP4_ENST00000429001.3_Silent_p.Y110Y|LARP4_ENST00000293618.8_Silent_p.Y104Y|LARP4_ENST00000522085.1_Silent_p.Y104Y|LARP4_ENST00000518444.1_Silent_p.Y103Y|LARP4_ENST00000347328.5_Silent_p.Y104Y	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN	La ribonucleoprotein domain family, member 4	104					cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						ACCAAATATATGATGTTTCCG	0.358																																					p.Y104Y		Atlas-SNP	.											LARP4,caecum,carcinoma,0,1	LARP4	58	.	0			c.T312C						.						108.0	102.0	104.0					12																	50822863		1828	4086	5914	SO:0001819	synonymous_variant	113251	exon3			AATATATGATGTT	AY004310	CCDS41782.1, CCDS44879.1, CCDS44880.1, CCDS44879.2, CCDS53789.1, CCDS53790.1	12q13.12	2005-08-09			ENSG00000161813	ENSG00000161813		"""La ribonucleoprotein domain containing"""	24320	protein-coding gene	gene with protein product						12477932	Standard	NM_052879		Approved	PP13296	uc001rwp.2	Q71RC2	OTTHUMG00000163724	ENST00000398473.2:c.312T>C	chr12.hg19:g.50822863T>C		52.0	0.0		33.0	2.0	NM_001170808	A8K6T1|E9PDG5|G3XAA8|G5E976|Q5CZ97|Q6ZV14|Q96NF9	Silent	SNP	ENST00000398473.2	hg19	CCDS41782.1																																																																																			.	.		0.358	LARP4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374981.1	NM_052879	
KRT77	374454	hgsc.bcm.edu	37	12	53086340	53086340	+	Missense_Mutation	SNP	A	A	C	rs200694410		TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr12:53086340A>C	ENST00000341809.3	-	7	1320	c.1292T>G	c.(1291-1293)cTg>cGg	p.L431R	RP11-641A6.3_ENST00000547533.1_RNA|KRT77_ENST00000537195.1_Missense_Mutation_p.L198R	NM_175078.2	NP_778253.2	Q7Z794	K2C1B_HUMAN	keratin 77	431	Coil 2.|Rod.					cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.Q429fs*17(1)		NS(2)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						GGCCTCCTCCAGGTCCTGCAG	0.622																																					p.L431R		Atlas-SNP	.											.,1	KRT77	58	.	1	Deletion - Frameshift(1)	ovary(1)	c.T1292G						.						44.0	41.0	42.0					12																	53086340		2203	4288	6491	SO:0001583	missense	374454	exon7			TCCTCCAGGTCCT	BK000975	CCDS8837.1	12q13.13	2013-06-25	2006-07-17	2006-07-17	ENSG00000189182	ENSG00000189182		"""-"", ""Intermediate filaments type II, keratins (basic)"""	20411	protein-coding gene	gene with protein product		611158	"""keratin 1B"""	KRT1B		11683385, 16831889	Standard	NM_175078		Approved		uc001saw.3	Q7Z794	OTTHUMG00000169450	ENST00000341809.3:c.1292T>G	chr12.hg19:g.53086340A>C	ENSP00000342710:p.Leu431Arg	48.0	0.0		49.0	5.0	NM_175078	Q7RTS8	Missense_Mutation	SNP	ENST00000341809.3	hg19	CCDS8837.1	.	.	.	.	.	.	.	.	.	.	A	14.48	2.548637	0.45383	.	.	ENSG00000189182	ENST00000341809;ENST00000537195	D;D	0.82803	-1.65;-1.65	4.29	3.09	0.35607	Filament (1);	.	.	.	.	D	0.92130	0.7505	M	0.93978	3.48	0.29823	N	0.830669	D	0.67145	0.996	D	0.71184	0.972	D	0.87375	0.2353	9	0.87932	D	0	.	10.047	0.42192	0.9169:0.0:0.0831:0.0	.	431	Q7Z794	K2C1B_HUMAN	R	431;198	ENSP00000342710:L431R;ENSP00000440803:L198R	ENSP00000342710:L431R	L	-	2	0	KRT77	51372607	1.000000	0.71417	0.089000	0.20774	0.137000	0.21094	7.484000	0.81180	0.576000	0.29452	0.334000	0.21626	CTG	.	.		0.622	KRT77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404111.1	NM_175078	
SPRYD3	84926	hgsc.bcm.edu	37	12	53462069	53462069	+	Missense_Mutation	SNP	T	T	C			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr12:53462069T>C	ENST00000301463.4	-	7	799	c.713A>G	c.(712-714)aAg>aGg	p.K238R	SPRYD3_ENST00000547837.1_Missense_Mutation_p.K275R	NM_032840.2	NP_116229.1	Q8NCJ5	SPRY3_HUMAN	SPRY domain containing 3	238										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						GCTTTTGCCCTTCCCTAAGTA	0.637																																					p.K238R		Atlas-SNP	.											.	SPRYD3	29	.	0			c.A713G						.						99.0	99.0	99.0					12																	53462069		2203	4300	6503	SO:0001583	missense	84926	exon7			TTGCCCTTCCCTA	AK074694	CCDS8845.1	12q13.13	2006-11-29		2006-02-02		ENSG00000167778			25920	protein-coding gene	gene with protein product						14702039	Standard	NM_032840		Approved	FLJ14800	uc001sbt.2	Q8NCJ5	OTTHUMG00000170101	ENST00000301463.4:c.713A>G	chr12.hg19:g.53462069T>C	ENSP00000301463:p.Lys238Arg	82.0	0.0		73.0	4.0	NM_032840	B9EG99|Q96SK5	Missense_Mutation	SNP	ENST00000301463.4	hg19	CCDS8845.1	.	.	.	.	.	.	.	.	.	.	T	15.19	2.760634	0.49468	.	.	ENSG00000167778	ENST00000301463;ENST00000547837	.	.	.	5.16	5.16	0.70880	.	0.107189	0.64402	D	0.000009	T	0.38427	0.1040	N	0.14661	0.345	0.41277	D	0.986881	B	0.15473	0.013	B	0.12837	0.008	T	0.25257	-1.0137	9	0.14252	T	0.57	.	13.2682	0.60146	0.0:0.0:0.0:1.0	.	238	Q8NCJ5	SPRY3_HUMAN	R	238;275	.	ENSP00000301463:K238R	K	-	2	0	SPRYD3	51748336	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.703000	0.68340	2.082000	0.62665	0.459000	0.35465	AAG	.	.		0.637	SPRYD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407264.1	NM_032840	
MDM2	4193	hgsc.bcm.edu	37	12	69207366	69207366	+	Silent	SNP	A	A	G			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr12:69207366A>G	ENST00000393410.1	+	2	114	c.114A>G	c.(112-114)ttA>ttG	p.L38L	MDM2_ENST00000299252.4_Silent_p.L38L|MDM2_ENST00000517852.1_Silent_p.L38L|MDM2_ENST00000393413.3_Intron|MDM2_ENST00000356290.4_Silent_p.L38L|MDM2_ENST00000360430.2_Intron|MDM2_ENST00000545204.1_Intron|MDM2_ENST00000350057.5_Intron|MDM2_ENST00000393412.3_Intron|MDM2_ENST00000462284.1_Silent_p.L44L|MDM2_ENST00000478070.1_Intron|MDM2_ENST00000544561.1_Silent_p.L38L|MDM2_ENST00000348801.2_Intron|MDM2_ENST00000258149.5_Silent_p.L38L|MDM2_ENST00000428863.2_Intron|MDM2_ENST00000258148.7_Silent_p.L44L|MDM2_ENST00000540827.1_Intron			Q00987	MDM2_HUMAN	MDM2 proto-oncogene, E3 ubiquitin protein ligase	38	Necessary for interaction with USP2.|SWIB.				cellular response to acid chemical (GO:0071229)|cellular response to alkaloid (GO:0071312)|cellular response to antibiotic (GO:0071236)|cellular response to estrogen stimulus (GO:0071391)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to UV-C (GO:0071494)|cellular response to vitamin B1 (GO:0071301)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment of protein localization (GO:0045184)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of protein processing (GO:0010955)|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)|peptidyl-lysine modification (GO:0018205)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein export from nucleus (GO:0046827)|protein complex assembly (GO:0006461)|protein destabilization (GO:0031648)|protein localization to nucleus (GO:0034504)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of protein catabolic process (GO:0042176)|response to antibiotic (GO:0046677)|response to carbohydrate (GO:0009743)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ether (GO:0045472)|response to iron ion (GO:0010039)|response to magnesium ion (GO:0032026)|response to morphine (GO:0043278)|synaptic transmission (GO:0007268)|traversing start control point of mitotic cell cycle (GO:0007089)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|p53 binding (GO:0002039)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.L44L(1)|p.L38L(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1)	19	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			TGAAGTTATTAAAGTCTGTTG	0.353			A		"""sarcoma, glioma, colorectal, other"""																																p.L44L		Atlas-SNP	.		Dom	yes		12	12q15	4193	Mdm2 p53 binding protein homolog		"""M, O, E, L"""	MDM2_ENST00000462284,bladder,carcinoma,0,2	MDM2	92	.	2	Substitution - coding silent(2)	urinary_tract(2)	c.A132G						.						147.0	145.0	146.0					12																	69207366		1830	4089	5919	SO:0001819	synonymous_variant	4193	exon3			GTTATTAAAGTCT		CCDS8986.2, CCDS61189.1	12q13-q14	2014-06-26	2014-06-26		ENSG00000135679	ENSG00000135679			6973	protein-coding gene	gene with protein product		164785	"""mouse double minute 2, human homolog of; p53-binding protein"", ""Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse)"", ""Mdm2 p53 binding protein homolog (mouse)"""			1614537, 16905769	Standard	NM_002392		Approved	HDM2, MGC5370	uc001sui.4	Q00987	OTTHUMG00000142827	ENST00000393410.1:c.114A>G	chr12.hg19:g.69207366A>G		106.0	0.0		65.0	4.0	NM_002392	A6NL51|A8K2S6|Q13226|Q13297|Q13298|Q13299|Q13300|Q13301|Q53XW0|Q71TW9|Q8WYJ1|Q8WYJ2|Q9UGI3|Q9UMT8	Silent	SNP	ENST00000393410.1	hg19																																																																																				.	.		0.353	MDM2-004	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000286422.1	NM_006880	
POC1B	282809	hgsc.bcm.edu	37	12	89865461	89865461	+	Silent	SNP	A	A	G			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr12:89865461A>G	ENST00000313546.3	-	6	734	c.606T>C	c.(604-606)gcT>gcC	p.A202A	POC1B_ENST00000549504.1_Intron|POC1B_ENST00000393179.4_Silent_p.A72A|POC1B_ENST00000549035.1_Silent_p.A160A|POC1B_ENST00000378528.2_Intron|POC1B_ENST00000541909.1_Silent_p.A72A	NM_172240.2	NP_758440.1	Q8TC44	POC1B_HUMAN	POC1 centriolar protein B	202					cell proliferation (GO:0008283)|cilium assembly (GO:0042384)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|spindle pole (GO:0000922)				endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	14						AACCTGCTGAAGCTATGCATG	0.318																																					p.A202A		Atlas-SNP	.											.	POC1B	41	.	0			c.T606C						.						140.0	133.0	135.0					12																	89865461		2203	4300	6503	SO:0001819	synonymous_variant	282809	exon6			TGCTGAAGCTATG	AL832918	CCDS31869.1, CCDS55859.1	12q21.33	2014-05-02	2013-08-21	2010-03-26	ENSG00000139323	ENSG00000139323		"""WD repeat domain containing"""	30836	protein-coding gene	gene with protein product		614784	"""WD repeat domain 51B"", ""POC1 centriolar protein homolog B (Chlamydomonas)"""	WDR51B		19109428	Standard	NM_172240		Approved	TUWD12, FLJ14923		Q8TC44	OTTHUMG00000169944	ENST00000313546.3:c.606T>C	chr12.hg19:g.89865461A>G		83.0	0.0		90.0	4.0	NM_172240	G3V1X0	Silent	SNP	ENST00000313546.3	hg19	CCDS31869.1																																																																																			.	.		0.318	POC1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406637.1	NM_172240	
POC1B	282809	hgsc.bcm.edu	37	12	89885846	89885846	+	Missense_Mutation	SNP	T	T	C			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr12:89885846T>C	ENST00000313546.3	-	4	447	c.319A>G	c.(319-321)Agt>Ggt	p.S107G	POC1B_ENST00000549504.1_5'UTR|POC1B_ENST00000393179.4_5'UTR|POC1B_ENST00000549035.1_Missense_Mutation_p.S65G|POC1B_ENST00000378528.2_5'UTR|POC1B_ENST00000541909.1_5'UTR	NM_172240.2	NP_758440.1	Q8TC44	POC1B_HUMAN	POC1 centriolar protein B	107					cell proliferation (GO:0008283)|cilium assembly (GO:0042384)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|spindle pole (GO:0000922)				endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	14						AAGTCTACACTTCGAACTGGA	0.353																																					p.S107G		Atlas-SNP	.											.	POC1B	41	.	0			c.A319G						.						95.0	94.0	94.0					12																	89885846		2203	4300	6503	SO:0001583	missense	282809	exon4			CTACACTTCGAAC	AL832918	CCDS31869.1, CCDS55859.1	12q21.33	2014-05-02	2013-08-21	2010-03-26	ENSG00000139323	ENSG00000139323		"""WD repeat domain containing"""	30836	protein-coding gene	gene with protein product		614784	"""WD repeat domain 51B"", ""POC1 centriolar protein homolog B (Chlamydomonas)"""	WDR51B		19109428	Standard	NM_172240		Approved	TUWD12, FLJ14923		Q8TC44	OTTHUMG00000169944	ENST00000313546.3:c.319A>G	chr12.hg19:g.89885846T>C	ENSP00000323302:p.Ser107Gly	89.0	0.0		82.0	4.0	NM_172240	G3V1X0	Missense_Mutation	SNP	ENST00000313546.3	hg19	CCDS31869.1	.	.	.	.	.	.	.	.	.	.	T	18.77	3.695310	0.68386	.	.	ENSG00000139323	ENST00000313546;ENST00000549035	T;T	0.64618	-0.11;-0.11	5.76	4.62	0.57501	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.080464	0.85682	N	0.000000	T	0.60457	0.2270	L	0.27944	0.81	0.80722	D	1	D	0.61080	0.989	P	0.60173	0.87	T	0.61148	-0.7121	10	0.52906	T	0.07	.	6.4826	0.22071	0.1387:0.0736:0.0:0.7877	.	107	Q8TC44	POC1B_HUMAN	G	107;65	ENSP00000323302:S107G;ENSP00000447916:S65G	ENSP00000323302:S107G	S	-	1	0	POC1B	88409977	1.000000	0.71417	0.999000	0.59377	0.970000	0.65996	3.276000	0.51646	1.024000	0.39682	0.383000	0.25322	AGT	.	.		0.353	POC1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406637.1	NM_172240	
PLXNC1	10154	hgsc.bcm.edu	37	12	94697585	94697585	+	Silent	SNP	A	A	G			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr12:94697585A>G	ENST00000258526.4	+	29	4689	c.4440A>G	c.(4438-4440)gaA>gaG	p.E1480E	PLXNC1_ENST00000547057.1_Silent_p.E527E|PLXNC1_ENST00000545312.1_Silent_p.E219E	NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	1480					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						CCTACAAAGAAGAAGTAAAAT	0.343																																					p.E1480E		Atlas-SNP	.											.	PLXNC1	135	.	0			c.A4440G						.						68.0	69.0	69.0					12																	94697585		2203	4299	6502	SO:0001819	synonymous_variant	10154	exon29			CAAAGAAGAAGTA	AF030339	CCDS9049.1	12q23	2009-04-17				ENSG00000136040		"""CD molecules"", ""Plexins"""	9106	protein-coding gene	gene with protein product		604259					Standard	NR_037687		Approved	VESPR, CD232	uc001tdc.3	O60486	OTTHUMG00000170235	ENST00000258526.4:c.4440A>G	chr12.hg19:g.94697585A>G		87.0	0.0		81.0	4.0	NM_005761	Q59H25	Silent	SNP	ENST00000258526.4	hg19	CCDS9049.1																																																																																			.	.		0.343	PLXNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408126.2		
APAF1	317	hgsc.bcm.edu	37	12	99056329	99056329	+	Missense_Mutation	SNP	T	T	C			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr12:99056329T>C	ENST00000551964.1	+	6	1542	c.806T>C	c.(805-807)gTt>gCt	p.V269A	APAF1_ENST00000359972.2_Missense_Mutation_p.V258A|APAF1_ENST00000547045.1_Missense_Mutation_p.V269A|APAF1_ENST00000549007.1_Missense_Mutation_p.V269A|APAF1_ENST00000552268.1_Missense_Mutation_p.V269A|APAF1_ENST00000339433.3_Missense_Mutation_p.V269A|APAF1_ENST00000357310.1_Missense_Mutation_p.V269A|APAF1_ENST00000333991.1_Missense_Mutation_p.V269A|APAF1_ENST00000550527.1_Missense_Mutation_p.V258A	NM_181861.1	NP_863651.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	269	NB-ARC.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic process (GO:0006915)|forebrain development (GO:0030900)|intrinsic apoptotic signaling pathway (GO:0097193)|nervous system development (GO:0007399)|neural tube closure (GO:0001843)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|regulation of apoptotic DNA fragmentation (GO:1902510)|regulation of apoptotic process (GO:0042981)|response to G1 DNA damage checkpoint signaling (GO:0072432)	apoptosome (GO:0043293)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	GACAAGAGTGTTACAGATTCA	0.323																																					p.V269A		Atlas-SNP	.											.	APAF1	111	.	0			c.T806C						.						115.0	111.0	112.0					12																	99056329		2203	4300	6503	SO:0001583	missense	317	exon6			AGAGTGTTACAGA	AF013263	CCDS9069.1, CCDS9070.1, CCDS9071.1, CCDS55862.1, CCDS55863.1	12q23	2013-01-10	2006-10-23			ENSG00000120868		"""WD repeat domain containing"""	576	protein-coding gene	gene with protein product		602233	"""apoptotic protease activating factor"", ""apoptotic peptidase activating factor"""			9267021, 10702682	Standard	NM_181861		Approved	CED4, APAF-1	uc001tfz.3	O14727	OTTHUMG00000170214	ENST00000551964.1:c.806T>C	chr12.hg19:g.99056329T>C	ENSP00000448165:p.Val269Ala	110.0	0.0		80.0	4.0	NM_181868	B2RMX8|O43297|Q7Z438|Q9BXZ6|Q9UBZ5|Q9UGN8|Q9UGN9|Q9UGP0|Q9UJ58|Q9UJ59|Q9UJ60|Q9UJ61|Q9UJ62|Q9UJ63|Q9UJ64|Q9UJ65|Q9UJ66|Q9UJ67|Q9UNC9	Missense_Mutation	SNP	ENST00000551964.1	hg19	CCDS9069.1	.	.	.	.	.	.	.	.	.	.	T	19.96	3.923911	0.73213	.	.	ENSG00000120868	ENST00000551964;ENST00000359972;ENST00000357310;ENST00000339433;ENST00000333991;ENST00000552268;ENST00000550527;ENST00000547045;ENST00000549007	D;D;D;D;D;D;D;D;D	0.85171	-1.95;-1.95;-1.95;-1.95;-1.95;-1.95;-1.95;-1.95;-1.95	5.87	4.71	0.59529	NB-ARC (1);	0.056024	0.64402	D	0.000001	D	0.90655	0.7069	M	0.76002	2.32	0.51012	D	0.999903	P;P;D;P;B	0.53745	0.936;0.686;0.962;0.908;0.367	P;P;D;P;B	0.65010	0.847;0.638;0.931;0.855;0.188	D	0.89944	0.4075	10	0.46703	T	0.11	-0.3615	12.4355	0.55596	0.1259:0.0:0.0:0.8741	.	269;269;258;269;258	O14727-6;O14727-4;O14727-3;O14727;O14727-2	.;.;.;APAF_HUMAN;.	A	269;258;269;269;269;269;258;269;269	ENSP00000448165:V269A;ENSP00000353059:V258A;ENSP00000349862:V269A;ENSP00000341830:V269A;ENSP00000334558:V269A;ENSP00000448826:V269A;ENSP00000448449:V258A;ENSP00000449791:V269A;ENSP00000448161:V269A	ENSP00000334558:V269A	V	+	2	0	APAF1	97580460	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.653000	0.83643	1.032000	0.39892	0.533000	0.62120	GTT	.	.		0.323	APAF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408006.1	NM_181861.1	
UHRF1BP1L	23074	hgsc.bcm.edu	37	12	100497704	100497704	+	Missense_Mutation	SNP	T	T	C			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr12:100497704T>C	ENST00000279907.7	-	3	445	c.233A>G	c.(232-234)cAt>cGt	p.H78R	UHRF1BP1L_ENST00000356828.3_Missense_Mutation_p.H78R	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	78										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						ACAGATGGGATGTGTTTTCAG	0.279																																					p.H78R		Atlas-SNP	.											.	UHRF1BP1L	144	.	0			c.A233G						.						78.0	83.0	81.0					12																	100497704		2203	4293	6496	SO:0001583	missense	23074	exon3			ATGGGATGTGTTT		CCDS31882.1, CCDS31883.1	12q23.1	2011-04-15	2008-08-15		ENSG00000111647	ENSG00000111647			29102	protein-coding gene	gene with protein product							Standard	XM_005268737		Approved	KIAA0701	uc001tgq.3	A0JNW5	OTTHUMG00000170195	ENST00000279907.7:c.233A>G	chr12.hg19:g.100497704T>C	ENSP00000279907:p.His78Arg	149.0	0.0		91.0	4.0	NM_015054	A0PJE5|O75183|Q8NDL1|Q96C30|Q9BTS5|Q9H0F1	Missense_Mutation	SNP	ENST00000279907.7	hg19	CCDS31882.1	.	.	.	.	.	.	.	.	.	.	T	27.0	4.794742	0.90453	.	.	ENSG00000111647	ENST00000279907;ENST00000356828	D;D	0.81821	-1.54;-1.54	5.52	5.52	0.82312	.	0.103647	0.64402	D	0.000003	D	0.87192	0.6116	M	0.73598	2.24	0.58432	D	0.999999	B;P	0.46512	0.16;0.879	B;P	0.55260	0.109;0.772	D	0.88521	0.3096	10	0.66056	D	0.02	-6.1829	15.6359	0.76953	0.0:0.0:0.0:1.0	.	78;78	A0JNW5-2;A0JNW5	.;UH1BL_HUMAN	R	78	ENSP00000279907:H78R;ENSP00000349285:H78R	ENSP00000279907:H78R	H	-	2	0	UHRF1BP1L	99021835	1.000000	0.71417	0.999000	0.59377	0.977000	0.68977	6.102000	0.71486	2.090000	0.63153	0.482000	0.46254	CAT	.	.		0.279	UHRF1BP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407875.1	NM_001006947	
TDG	6996	hgsc.bcm.edu	37	12	104379508	104379508	+	Splice_Site	SNP	T	T	C			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr12:104379508T>C	ENST00000392872.3	+	9	1324		c.e9+2		TDG_ENST00000544861.1_Splice_Site|TDG_ENST00000266775.9_Splice_Site|TDG_ENST00000542036.1_Splice_Site|AC078819.1_ENST00000401157.1_RNA	NM_003211.4	NP_003202.3	Q13569	TDG_HUMAN	thymine-DNA glycosylase						base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|chromatin modification (GO:0016568)|depyrimidination (GO:0045008)|DNA demethylation (GO:0080111)|DNA repair (GO:0006281)|embryo development (GO:0009790)|mismatch repair (GO:0006298)|negative regulation of chromatin binding (GO:0035562)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression, epigenetic (GO:0040029)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	damaged DNA binding (GO:0003684)|DNA N-glycosylase activity (GO:0019104)|double-stranded DNA binding (GO:0003690)|mismatched DNA binding (GO:0030983)|protein homodimerization activity (GO:0042803)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|RNA polymerase II transcription cofactor activity (GO:0001104)|structure-specific DNA binding (GO:0043566)			large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(302;0.00114)		ATGGGCTAAGTATGGTTCCCT	0.413								Base excision repair (BER), DNA glycosylases																													.		Atlas-SNP	.											.	TDG	43	.	0			c.1090+2T>C						.						132.0	126.0	128.0					12																	104379508		2203	4300	6503	SO:0001630	splice_region_variant	6996	exon9			GCTAAGTATGGTT	U51166	CCDS9095.1	12q24.1	2014-05-14			ENSG00000139372	ENSG00000139372	3.2.2.29		11700	protein-coding gene	gene with protein product	"""G/T mismatch-specific thymine DNA glycosylase"""	601423				8662714, 9299239	Standard	NM_003211		Approved		uc001tkg.3	Q13569	OTTHUMG00000168418	ENST00000392872.3:c.1090+2T>C	chr12.hg19:g.104379508T>C		129.0	0.0		93.0	27.0	NM_003211	Q8IUZ6|Q8IZM3	Splice_Site	SNP	ENST00000392872.3	hg19	CCDS9095.1	.	.	.	.	.	.	.	.	.	.	T	13.32	2.202862	0.38905	.	.	ENSG00000139372	ENST00000392872;ENST00000266775;ENST00000544861;ENST00000542036	.	.	.	5.7	5.7	0.88788	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8048	0.69945	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	TDG	102903638	1.000000	0.71417	0.917000	0.36280	0.314000	0.28054	2.133000	0.42093	2.175000	0.68902	0.533000	0.62120	.	.	.		0.413	TDG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399673.2		Intron
RIC8B	55188	hgsc.bcm.edu	37	12	107237670	107237670	+	Missense_Mutation	SNP	T	T	C			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr12:107237670T>C	ENST00000392839.2	+	6	1212	c.1106T>C	c.(1105-1107)tTa>tCa	p.L369S	RIC8B_ENST00000549643.1_Intron|RIC8B_ENST00000392837.4_Missense_Mutation_p.L369S|RIC8B_ENST00000355478.2_Missense_Mutation_p.L329S	NM_018157.2	NP_060627.2	Q9NVN3	RIC8B_HUMAN	RIC8 guanine nucleotide exchange factor B	369					regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	G-protein alpha-subunit binding (GO:0001965)|guanyl-nucleotide exchange factor activity (GO:0005085)			kidney(2)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	19						GTTCTCAGCTTATTAACCGAA	0.343																																					p.L369S		Atlas-SNP	.											.	RIC8B	51	.	0			c.T1106C						.						109.0	103.0	105.0					12																	107237670		2203	4300	6503	SO:0001583	missense	55188	exon6			TCAGCTTATTAAC	AK128102	CCDS9109.2	12q23.3	2013-08-05	2013-08-05		ENSG00000111785	ENSG00000111785			25555	protein-coding gene	gene with protein product		609147	"""resistance to inhibitors of cholinesterase 8 homolog B (C. elegans)"""				Standard	XM_005268998		Approved	FLJ10620, hSyn, RIC8	uc001tlx.3	Q9NVN3	OTTHUMG00000144188	ENST00000392839.2:c.1106T>C	chr12.hg19:g.107237670T>C	ENSP00000376583:p.Leu369Ser	49.0	0.0		57.0	4.0	NM_018157	A2RTZ0|Q4G103|Q6ZRN4|Q86WD3	Missense_Mutation	SNP	ENST00000392839.2	hg19	CCDS9109.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	25.4|25.4	4.633859|4.633859	0.87660|0.87660	.|.	.|.	ENSG00000111785|ENSG00000111785	ENST00000392837;ENST00000392839;ENST00000355478|ENST00000548914	T;T;T|.	0.52295|.	0.67;0.67;0.67|.	5.51|5.51	5.51|5.51	0.81932|0.81932	Synembryn (1);Armadillo-type fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.74921|0.74921	0.3780|0.3780	M|M	0.75777|0.75777	2.31|2.31	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;0.999;1.0|.	D;D;D|.	0.91635|.	0.999;0.999;0.999|.	T|T	0.75789|0.75789	-0.3194|-0.3194	10|5	0.59425|.	D|.	0.04|.	-2.922|-2.922	15.6203|15.6203	0.76802|0.76802	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	329;369;369|.	Q9NVN3-3;Q9NVN3;B7WPL0|.	.;RIC8B_HUMAN;.|.	S|H	369;369;329|194	ENSP00000376582:L369S;ENSP00000376583:L369S;ENSP00000347662:L329S|.	ENSP00000347662:L329S|.	L|Y	+|+	2|1	0|0	RIC8B|RIC8B	105761800|105761800	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.985000|0.985000	0.73830|0.73830	7.796000|7.796000	0.85898|0.85898	2.088000|2.088000	0.63022|0.63022	0.455000|0.455000	0.32223|0.32223	TTA|TAT	.	.		0.343	RIC8B-006	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000291398.2	NM_018157	
MTERF2	80298	hgsc.bcm.edu	37	12	107371779	107371779	+	Silent	SNP	A	A	G			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr12:107371779A>G	ENST00000552029.1	-	2	2782	c.714T>C	c.(712-714)ggT>ggC	p.G238G	MTERFD3_ENST00000392830.2_Silent_p.G238G|MTERFD3_ENST00000240050.4_Silent_p.G238G|C12orf23_ENST00000551237.1_Intron			Q49AM1	MTEF2_HUMAN		238					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)	transcription regulatory region DNA binding (GO:0044212)			breast(1)|kidney(1)|large_intestine(2)|lung(3)	7						AGCTGGTGAAACCTTGCTCCT	0.343																																					p.G238G		Atlas-SNP	.											.	MTERFD3	32	.	0			c.T714C						.						57.0	65.0	62.0					12																	107371779		2201	4300	6501	SO:0001819	synonymous_variant	80298	exon3			GGTGAAACCTTGC																												ENST00000552029.1:c.714T>C	chr12.hg19:g.107371779A>G		71.0	0.0		71.0	5.0	NM_001033050	Q53HM2|Q9H4L6|Q9H7Y9	Silent	SNP	ENST00000552029.1	hg19	CCDS9111.1																																																																																			.	.		0.343	MTERFD3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406835.1		
ATXN2	6311	hgsc.bcm.edu	37	12	111926327	111926327	+	Silent	SNP	T	T	C	rs138912353		TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr12:111926327T>C	ENST00000377617.3	-	15	2834	c.2673A>G	c.(2671-2673)gcA>gcG	p.A891A	ATXN2_ENST00000608853.1_Silent_p.A731A|AC002395.1_ENST00000581907.1_RNA|ATXN2_ENST00000389153.4_Silent_p.A626A|ATXN2_ENST00000550104.1_Silent_p.A891A|ATXN2_ENST00000542287.2_Silent_p.A626A|ATXN2_ENST00000535949.1_Silent_p.A602A	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	891					cell death (GO:0008219)|cerebellar Purkinje cell differentiation (GO:0021702)|cytoplasmic mRNA processing body assembly (GO:0033962)|homeostasis of number of cells (GO:0048872)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of receptor internalization (GO:0002091)|neuromuscular process (GO:0050905)|neuron projection morphogenesis (GO:0048812)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA transport (GO:0050658)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|trans-Golgi network (GO:0005802)	epidermal growth factor receptor binding (GO:0005154)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						CTTGTTTACATGCTGGGCTGG	0.453																																					p.A891A		Atlas-SNP	.											.	ATXN2	99	.	0			c.A2673G						.						118.0	115.0	116.0					12																	111926327		2203	4300	6503	SO:0001819	synonymous_variant	6311	exon15			TTTACATGCTGGG	U80749	CCDS31902.1	12q23-q24.1	2014-09-17	2004-08-12	2004-08-13	ENSG00000204842	ENSG00000204842		"""Ataxins"""	10555	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 13"""	601517	"""spinocerebellar ataxia 2 (olivopontocerebellar ataxia 2, autosomal dominant, ataxin 2)"""	SCA2, TNRC13		8358438, 9225980	Standard	NM_002973		Approved	ATX2	uc001tsj.3	Q99700	OTTHUMG00000133475	ENST00000377617.3:c.2673A>G	chr12.hg19:g.111926327T>C		198.0	0.0		181.0	54.0	NM_002973	A6NLD4|Q6ZQZ7|Q99493	Silent	SNP	ENST00000377617.3	hg19	CCDS31902.1																																																																																			.	T|1.000;G|0.000		0.453	ATXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257351.3	NM_002973	
HECTD4	283450	hgsc.bcm.edu	37	12	112613662	112613662	+	Splice_Site	SNP	G	G	A			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr12:112613662G>A	ENST00000430131.2	-	65	11351	c.10206C>T	c.(10204-10206)gtC>gtT	p.V3402V	HECTD4_ENST00000377560.5_Splice_Site_p.V3652V|HECTD4_ENST00000550722.1_Splice_Site_p.V3678V			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	3402					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										TTTCCTCAGGGACTGGTGGAA	0.557																																					p.V3690V		Atlas-SNP	.											.	.	.	.	0			c.C11070T						.						50.0	53.0	52.0					12																	112613662		1982	4162	6144	SO:0001630	splice_region_variant	283450	exon66			CTCAGGGACTGGT	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.10205-1C>T	chr12.hg19:g.112613662G>A		176.0	0.0		141.0	34.0	NM_001109662	L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Silent	SNP	ENST00000430131.2	hg19																																																																																				.	.		0.557	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813	Silent
SETD1B	23067	hgsc.bcm.edu	37	12	122252024	122252024	+	Missense_Mutation	SNP	T	T	C			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr12:122252024T>C	ENST00000604567.1	+	7	1971	c.1903T>C	c.(1903-1905)Tca>Cca	p.S635P	SETD1B_ENST00000542440.1_Missense_Mutation_p.S635P|SETD1B_ENST00000267197.5_Missense_Mutation_p.S635P			Q9UPS6	SET1B_HUMAN	SET domain containing 1B	635	Pro-rich.				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						CCAGCAGTCCTCAGGCGAGGA	0.637																																					p.S635P		Atlas-SNP	.											.	SETD1B	105	.	0			c.T1903C						.						4.0	6.0	5.0					12																	122252024		619	1491	2110	SO:0001583	missense	23067	exon6			CAGTCCTCAGGCG	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.1903T>C	chr12.hg19:g.122252024T>C	ENSP00000474253:p.Ser635Pro	84.0	0.0		86.0	4.0	NM_015048	F6MFW1	Missense_Mutation	SNP	ENST00000604567.1	hg19		.	.	.	.	.	.	.	.	.	.	T	17.02	3.280724	0.59758	.	.	ENSG00000139718	ENST00000542440;ENST00000267197	D;D	0.96992	-4.2;-4.2	4.15	4.15	0.48705	.	.	.	.	.	D	0.97427	0.9158	M	0.65498	2.005	0.80722	D	1	D	0.71674	0.998	D	0.80764	0.994	D	0.98014	1.0367	9	0.87932	D	0	.	13.5106	0.61511	0.0:0.0:0.0:1.0	.	635	Q9UPS6	SET1B_HUMAN	P	635	ENSP00000442924:S635P;ENSP00000267197:S635P	ENSP00000267197:S635P	S	+	1	0	SETD1B	120736407	1.000000	0.71417	0.993000	0.49108	0.993000	0.82548	7.990000	0.88215	1.668000	0.50843	0.369000	0.22263	TCA	.	.		0.637	SETD1B-002	PUTATIVE	non_canonical_U12|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000468264.1	XM_037523	
PIWIL1	9271	hgsc.bcm.edu	37	12	130834496	130834496	+	Missense_Mutation	SNP	T	T	C			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr12:130834496T>C	ENST00000245255.3	+	9	1300	c.1028T>C	c.(1027-1029)tTa>tCa	p.L343S		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	343	PAZ. {ECO:0000255|PROSITE- ProRule:PRU00142}.				gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|regulation of translation (GO:0006417)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mRNA cap binding complex (GO:0005845)|P granule (GO:0043186)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)|single-stranded RNA binding (GO:0003727)			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		GTCAGCTTCTTAGAATACTAC	0.408																																					p.L343S		Atlas-SNP	.											.	PIWIL1	157	.	0			c.T1028C						.						69.0	72.0	71.0					12																	130834496		2203	4300	6503	SO:0001583	missense	9271	exon9			GCTTCTTAGAATA	AF104260	CCDS9268.1	12q24.33	2014-01-21	2013-02-15		ENSG00000125207	ENSG00000125207		"""Argonaute/PIWI family"""	9007	protein-coding gene	gene with protein product		605571	"""piwi (Drosophila)-like 1"", ""piwi-like 1 (Drosophila)"""			9851978, 12906857	Standard	NM_004764		Approved	PIWI, HIWI, CT80.1	uc001uik.3	Q96J94	OTTHUMG00000168382	ENST00000245255.3:c.1028T>C	chr12.hg19:g.130834496T>C	ENSP00000245255:p.Leu343Ser	63.0	0.0		45.0	4.0	NM_004764	A4F266|O95404|Q8NA60|Q8TBY5|Q96JD5	Missense_Mutation	SNP	ENST00000245255.3	hg19	CCDS9268.1	.	.	.	.	.	.	.	.	.	.	T	11.61	1.689917	0.29962	.	.	ENSG00000125207	ENST00000245255	T	0.11063	2.81	5.72	5.72	0.89469	Argonaute/Dicer protein, PAZ (4);	0.376313	0.28338	N	0.015713	T	0.22936	0.0554	L	0.56396	1.775	0.34108	D	0.662673	P;B	0.42161	0.772;0.401	P;B	0.50896	0.653;0.292	T	0.18241	-1.0343	10	0.59425	D	0.04	-17.9593	15.185	0.72993	0.0:0.0:0.0:1.0	.	343;343	Q96J94;Q96J94-2	PIWL1_HUMAN;.	S	343	ENSP00000245255:L343S	ENSP00000245255:L343S	L	+	2	0	PIWIL1	129400449	0.996000	0.38824	0.995000	0.50966	0.071000	0.16799	2.725000	0.47294	2.168000	0.68352	0.460000	0.39030	TTA	.	.		0.408	PIWIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399510.1		
PARP4	143	hgsc.bcm.edu	37	13	25044076	25044076	+	Missense_Mutation	SNP	A	A	G			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr13:25044076A>G	ENST00000381989.3	-	16	2107	c.2002T>C	c.(2002-2004)Tgt>Cgt	p.C668R		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	668	VIT. {ECO:0000255|PROSITE- ProRule:PRU00801}.				cell death (GO:0008219)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|protein ADP-ribosylation (GO:0006471)|response to drug (GO:0042493)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		TCGAAGCCACACACAGCGGCC	0.443																																					p.C668R		Atlas-SNP	.											.	PARP4	142	.	0			c.T2002C						.						93.0	70.0	78.0					13																	25044076		2203	4300	6503	SO:0001583	missense	143	exon16			AGCCACACACAGC	AF057160	CCDS9307.1	13q11	2010-09-29	2004-08-20	2004-08-26	ENSG00000102699	ENSG00000102699		"""Poly (ADP-ribose) polymerases"""	271	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 5C"""	607519	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1"""	ADPRTL1		10644454	Standard	NM_006437		Approved	VAULT3, p193, VPARP, VWA5C	uc001upl.3	Q9UKK3	OTTHUMG00000016582	ENST00000381989.3:c.2002T>C	chr13.hg19:g.25044076A>G	ENSP00000371419:p.Cys668Arg	75.0	0.0		91.0	4.0	NM_006437	O75903|Q14682|Q5QNZ9|Q9H1M6	Missense_Mutation	SNP	ENST00000381989.3	hg19	CCDS9307.1	.	.	.	.	.	.	.	.	.	.	A	14.95	2.689320	0.48097	.	.	ENSG00000102699	ENST00000381989	T	0.21031	2.03	3.6	3.6	0.41247	Vault protein inter-alpha-trypsin (2);Vault protein inter-alpha-trypsin, metazoa (1);	0.000000	0.85682	U	0.000000	T	0.43055	0.1230	M	0.88181	2.935	0.80722	D	1	P	0.49307	0.922	P	0.54759	0.76	T	0.50668	-0.8801	10	0.62326	D	0.03	-12.9249	10.4971	0.44783	1.0:0.0:0.0:0.0	.	668	Q9UKK3	PARP4_HUMAN	R	668	ENSP00000371419:C668R	ENSP00000371419:C668R	C	-	1	0	PARP4	23942076	1.000000	0.71417	1.000000	0.80357	0.181000	0.23173	8.057000	0.89457	1.645000	0.50612	0.369000	0.22263	TGT	.	.		0.443	PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044189.1	NM_006437	
RNF6	6049	hgsc.bcm.edu	37	13	26788190	26788190	+	Missense_Mutation	SNP	T	T	C			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr13:26788190T>C	ENST00000381588.4	-	5	2581	c.1829A>G	c.(1828-1830)cAg>cGg	p.Q610R	RNF6_ENST00000399762.2_Missense_Mutation_p.Q254R|RNF6_ENST00000381570.3_Missense_Mutation_p.Q610R|RNF6_ENST00000468480.1_Intron|RNF6_ENST00000346166.3_Missense_Mutation_p.Q610R	NM_005977.3	NP_005968.1	Q9Y252	RNF6_HUMAN	ring finger protein (C3H2C3 type) 6	610	Required for polyubiquitination. {ECO:0000250}.				negative regulation of axon extension (GO:0030517)|positive regulation of transcription, DNA-templated (GO:0045893)|protein K27-linked ubiquitination (GO:0044314)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)	axon (GO:0030424)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|PML body (GO:0016605)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2)	23	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)		ATTGTCAATCTGCTCTTTGGT	0.363																																					p.Q610R		Atlas-SNP	.											.	RNF6	68	.	0			c.A1829G						.						171.0	162.0	165.0					13																	26788190		2203	4300	6503	SO:0001583	missense	6049	exon5			TCAATCTGCTCTT	AJ010346	CCDS9316.1	13q12.2	2013-01-09			ENSG00000127870	ENSG00000127870		"""RING-type (C3HC4) zinc fingers"""	10069	protein-coding gene	gene with protein product	"""RING-H2 protein RNF-6"""	604242				10331950	Standard	NM_005977		Approved	DKFZp686P0776	uc001uqq.3	Q9Y252	OTTHUMG00000016614	ENST00000381588.4:c.1829A>G	chr13.hg19:g.26788190T>C	ENSP00000371000:p.Gln610Arg	116.0	0.0		99.0	4.0	NM_183043	B4DDP0|Q5W0H0|Q9BZP5|Q9UF41	Missense_Mutation	SNP	ENST00000381588.4	hg19	CCDS9316.1	.	.	.	.	.	.	.	.	.	.	T	19.79	3.892085	0.72524	.	.	ENSG00000127870	ENST00000346166;ENST00000381588;ENST00000381570;ENST00000399762	T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	T	0.80502	0.4635	M	0.70595	2.14	0.80722	D	1	D;B	0.76494	0.999;0.294	D;B	0.77004	0.989;0.224	T	0.82862	-0.0247	10	0.72032	D	0.01	-15.5422	15.1787	0.72938	0.0:0.0:0.0:1.0	.	254;610	B4DDP0;Q9Y252	.;RNF6_HUMAN	R	610;610;610;254	ENSP00000342121:Q610R;ENSP00000371000:Q610R;ENSP00000370982:Q610R;ENSP00000382665:Q254R	ENSP00000342121:Q610R	Q	-	2	0	RNF6	25686190	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.396000	0.79891	2.230000	0.72887	0.455000	0.32223	CAG	.	.		0.363	RNF6-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044246.2	NM_005977	
B3GALTL	145173	hgsc.bcm.edu	37	13	31822032	31822032	+	Missense_Mutation	SNP	T	T	C			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr13:31822032T>C	ENST00000343307.4	+	6	537	c.388T>C	c.(388-390)Ttc>Ctc	p.F130L		NM_194318.3	NP_919299.3	Q6Y288	B3GLT_HUMAN	beta 1,3-galactosyltransferase-like	130					fucose metabolic process (GO:0006004)|protein glycosylation (GO:0006486)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Lung SC(185;0.0257)		all cancers(112;0.00436)|Epithelial(112;0.0285)|OV - Ovarian serous cystadenocarcinoma(117;0.0512)|GBM - Glioblastoma multiforme(144;0.184)		TTGGATTTTCTTCTGTGAAGA	0.318																																					p.F130L		Atlas-SNP	.											.	B3GALTL	48	.	0			c.T388C						.						48.0	45.0	46.0					13																	31822032		2203	4294	6497	SO:0001583	missense	145173	exon6			ATTTTCTTCTGTG	AB101481	CCDS9341.1	13q12.3	2014-03-24			ENSG00000187676	ENSG00000187676		"""Beta 3-glycosyltransferases"""	20207	protein-coding gene	gene with protein product		610308				12943678, 16899492, 17032646	Standard	NM_194318		Approved	B3GTL, B3Glc-T	uc010aaz.3	Q6Y288	OTTHUMG00000016688	ENST00000343307.4:c.388T>C	chr13.hg19:g.31822032T>C	ENSP00000343002:p.Phe130Leu	90.0	0.0		85.0	4.0	NM_194318	A8K5F8|Q5W0H2|Q6NUI3	Missense_Mutation	SNP	ENST00000343307.4	hg19	CCDS9341.1	.	.	.	.	.	.	.	.	.	.	T	26.5	4.741703	0.89573	.	.	ENSG00000187676	ENST00000343307	T	0.61392	0.11	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.76723	0.4027	M	0.76838	2.35	0.58432	D	0.999995	D	0.89917	1.0	D	0.97110	1.0	T	0.79588	-0.1741	10	0.66056	D	0.02	-29.8454	15.7471	0.77955	0.0:0.0:0.0:1.0	.	130	Q6Y288	B3GLT_HUMAN	L	130	ENSP00000343002:F130L	ENSP00000343002:F130L	F	+	1	0	B3GALTL	30720032	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.005000	0.63972	2.264000	0.75181	0.533000	0.62120	TTC	.	.		0.318	B3GALTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044396.3	NM_194318	
DCLK1	9201	hgsc.bcm.edu	37	13	36348674	36348674	+	Nonstop_Mutation	SNP	A	A	T			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr13:36348674A>T	ENST00000360631.3	-	17	2432	c.2221T>A	c.(2221-2223)Taa>Aaa	p.*741K	DCLK1_ENST00000379893.1_Nonstop_Mutation_p.*434K|DCLK1_ENST00000255448.4_3'UTR			O15075	DCLK1_HUMAN	doublecortin-like kinase 1	0					axon extension (GO:0048675)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|forebrain development (GO:0030900)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein activity (GO:0005057)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		GGGTCTTATTAAAAGGGCGAG	0.478																																					p.X434K		Atlas-SNP	.											.	DCLK1	350	.	0			c.T1300A						.																																			SO:0001578	stop_lost	9201	exon13			CTTATTAAAAGGG	AB002367	CCDS9354.1, CCDS55895.1, CCDS73561.1	13q13.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000133083	ENSG00000133083			2700	protein-coding gene	gene with protein product		604742	"""doublecortin and CaM kinase-like 1"""	DCAMKL1		9747029, 10036192	Standard	NM_004734		Approved	KIAA0369, DCLK, DCDC3A	uc001uvf.3	O15075	OTTHUMG00000016729	ENST00000360631.3:c.2221T>A	chr13.hg19:g.36348674A>T		130.0	0.0		102.0	28.0	NM_001195416	B7Z3E9|Q5VZY8|Q5VZZ0|Q5VZZ1	Missense_Mutation	SNP	ENST00000360631.3	hg19		.	.	.	.	.	.	.	.	.	.	A	17.60	3.428869	0.62844	.	.	ENSG00000133083	ENST00000360631;ENST00000379893	.	.	.	5.95	5.95	0.96441	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4159	0.83738	1.0:0.0:0.0:0.0	.	.	.	.	K	741;434	.	.	X	-	1	0	DCLK1	35246674	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	8.598000	0.90852	2.279000	0.76181	0.533000	0.62120	TAA	.	.		0.478	DCLK1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000044487.1	NM_004734	
RCBTB2	1102	hgsc.bcm.edu	37	13	49070340	49070340	+	Missense_Mutation	SNP	T	T	C			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr13:49070340T>C	ENST00000344532.3	-	14	1925	c.1502A>G	c.(1501-1503)aAg>aGg	p.K501R	RCBTB2_ENST00000544492.1_Missense_Mutation_p.K227R|RCBTB2_ENST00000430805.2_Missense_Mutation_p.K506R	NM_001268.2	NP_001259.1	O95199	RCBT2_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2	501	BTB 2. {ECO:0000255|PROSITE- ProRule:PRU00037}.				positive regulation of Ran GTPase activity (GO:0032853)	acrosomal vesicle (GO:0001669)	Ran guanyl-nucleotide exchange factor activity (GO:0005087)			breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3)	31		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)		TGCATCATACTTCACCGCAGC	0.478																																					p.K501R		Atlas-SNP	.											.	RCBTB2	62	.	0			c.A1502G						.						83.0	78.0	80.0					13																	49070340		2203	4300	6503	SO:0001583	missense	1102	exon14			TCATACTTCACCG	AF060219	CCDS9411.1, CCDS73570.1, CCDS73571.1, CCDS73572.1	13q14.3	2013-01-08	2005-05-09	2005-05-09	ENSG00000136161	ENSG00000136161		"""BTB/POZ domain containing"""	1914	protein-coding gene	gene with protein product		603524	"""chromosome condensation 1-like"""	CHC1L		9806834	Standard	XM_005266242		Approved		uc001vch.3	O95199	OTTHUMG00000016902	ENST00000344532.3:c.1502A>G	chr13.hg19:g.49070340T>C	ENSP00000345144:p.Lys501Arg	76.0	0.0		69.0	4.0	NM_001268	B2RDW8	Missense_Mutation	SNP	ENST00000344532.3	hg19	CCDS9411.1	.	.	.	.	.	.	.	.	.	.	t	6.933	0.541968	0.13250	.	.	ENSG00000136161	ENST00000344532;ENST00000450343;ENST00000452987;ENST00000430805;ENST00000544492	T;T;T	0.74526	0.05;0.05;-0.85	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.61160	0.2325	N	0.25789	0.76	0.80722	D	1	B;B;B;B	0.21753	0.019;0.001;0.06;0.001	B;B;B;B	0.20384	0.029;0.007;0.018;0.007	T	0.56842	-0.7912	10	0.13108	T	0.6	.	15.0715	0.72040	0.0:0.0:0.0:1.0	.	227;506;453;501	B4E372;B4DWG0;B3KVB1;O95199	.;.;.;RCBT2_HUMAN	R	501;453;506;506;227	ENSP00000345144:K501R;ENSP00000389910:K506R;ENSP00000443862:K227R	ENSP00000345144:K501R	K	-	2	0	RCBTB2	47968341	1.000000	0.71417	0.932000	0.37286	0.040000	0.13550	5.900000	0.69853	2.021000	0.59480	0.456000	0.33151	AAG	.	.		0.478	RCBTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044888.2	NM_001268	
DIAPH3	81624	hgsc.bcm.edu	37	13	60557952	60557952	+	Silent	SNP	T	T	C			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr13:60557952T>C	ENST00000400324.4	-	13	1651	c.1431A>G	c.(1429-1431)ccA>ccG	p.P477P	DIAPH3_ENST00000377908.2_Silent_p.P466P|DIAPH3_ENST00000400319.1_Silent_p.P407P|DIAPH3_ENST00000267215.4_Silent_p.P477P|DIAPH3_ENST00000400330.1_Silent_p.P477P|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400320.1_Silent_p.P431P	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	477					actin cytoskeleton organization (GO:0030036)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		ATGTGAAGTCTGGATCCATTC	0.294																																					p.P477P		Atlas-SNP	.											.	DIAPH3	139	.	0			c.A1431G						.						110.0	104.0	106.0					13																	60557952		1822	4075	5897	SO:0001819	synonymous_variant	81624	exon13			GAAGTCTGGATCC	AL137718	CCDS41898.1, CCDS58294.1, CCDS58295.1, CCDS58296.1, CCDS58297.1, CCDS73579.1, CCDS73580.1	13q21.2	2013-05-24	2013-05-24		ENSG00000139734	ENSG00000139734			15480	protein-coding gene	gene with protein product		614567	"""diaphanous (Drosophila, homolog) 3"", ""auditory neuropathy, autosomal dominant 1"", ""diaphanous homolog 3 (Drosophila)"""	AUNA1		14767582, 20624953	Standard	NM_030932		Approved	DRF3, FLJ34705, AN, NSDAN	uc001vht.4	Q9NSV4	OTTHUMG00000017004	ENST00000400324.4:c.1431A>G	chr13.hg19:g.60557952T>C		86.0	0.0		65.0	4.0	NM_001042517	A2A3B8|A2A3B9|A2A3C0|Q18P99|Q18PA0|Q18PA1|Q2KPB6|Q3ZK23|Q5JTP8|Q5T2S7|Q5XKF6|Q6MZF0|Q6NUP0|Q86VS4|Q8NAV4	Silent	SNP	ENST00000400324.4	hg19	CCDS41898.1																																																																																			.	.		0.294	DIAPH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045166.3	NM_001042517	
ABCC4	10257	hgsc.bcm.edu	37	13	95858953	95858953	+	Missense_Mutation	SNP	C	C	T	rs377022090		TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr13:95858953C>T	ENST00000376887.4	-	8	1108	c.994G>A	c.(994-996)Gtg>Atg	p.V332M	ABCC4_ENST00000431522.1_Missense_Mutation_p.V332M|ABCC4_ENST00000538287.1_3'UTR|ABCC4_ENST00000412704.1_Missense_Mutation_p.V332M|ABCC4_ENST00000536256.1_Missense_Mutation_p.V257M	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	332	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				blood coagulation (GO:0007596)|oxidation-reduction process (GO:0055114)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of smooth muscle cell proliferation (GO:0048661)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	15-hydroxyprostaglandin dehydrogenase (NAD+) activity (GO:0016404)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cefazolin(DB01327)|Celecoxib(DB00482)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Leucovorin(DB00650)|Meloxicam(DB00814)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Probenecid(DB01032)|Rosuvastatin(DB01098)|Sildenafil(DB00203)|Sorafenib(DB00398)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tenofovir(DB00300)|Tioguanine(DB00352)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Zidovudine(DB00495)	GTCACAAACACGATGATTTTG	0.517																																					p.V332M		Atlas-SNP	.											.	ABCC4	248	.	0			c.G994A						.	C	MET/VAL,MET/VAL	0,4406		0,0,2203	165.0	150.0	155.0		994,994	1.4	1.0	13		155	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	ABCC4	NM_001105515.1,NM_005845.3	21,21	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign,benign	332/860,332/1326	95858953	2,13004	2203	4300	6503	SO:0001583	missense	10257	exon8			CAAACACGATGAT	U66682	CCDS9474.1	13q31	2012-03-14			ENSG00000125257	ENSG00000125257		"""ATP binding cassette transporters / subfamily C"""	55	protein-coding gene	gene with protein product	"""canalicular multispecific organic anion transporter (ABC superfamily)"", ""bA464I2.1 (ATP-binding cassette, sub-family C (CFTR/MRP), member 4)"", ""multidrug resistance-associated protein 4"", ""multispecific organic anion transporter B"""	605250				8894702, 9661885	Standard	NM_005845		Approved	MRP4, EST170205, MOAT-B, MOATB	uc001vmd.4	O15439	OTTHUMG00000017216	ENST00000376887.4:c.994G>A	chr13.hg19:g.95858953C>T	ENSP00000366084:p.Val332Met	95.0	0.0		76.0	26.0	NM_005845	A9Z1Z7|Q8IVZ4|Q8IZN6|Q8NEW8|Q9Y6J2	Missense_Mutation	SNP	ENST00000376887.4	hg19	CCDS9474.1	.	.	.	.	.	.	.	.	.	.	C	7.493	0.651031	0.14516	0.0	2.33E-4	ENSG00000125257	ENST00000412704;ENST00000376887;ENST00000536256;ENST00000431522	D;D;D;D	0.90504	-2.68;-2.68;-2.68;-2.68	5.43	1.42	0.22433	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.770161	0.12546	N	0.459441	D	0.87485	0.6189	M	0.77103	2.36	0.30143	N	0.803717	B;B;B;B;B	0.26809	0.051;0.1;0.131;0.16;0.147	B;B;B;B;B	0.26693	0.028;0.028;0.04;0.072;0.066	T	0.80890	-0.1180	10	0.52906	T	0.07	.	1.7983	0.03066	0.1178:0.3272:0.3037:0.2513	.	257;332;332;332;332	B7Z3Q7;A8K2Q2;O15439-2;Q8IVZ4;O15439	.;.;.;.;MRP4_HUMAN	M	332;332;257;332	ENSP00000388657:V332M;ENSP00000366084:V332M;ENSP00000442024:V257M;ENSP00000398562:V332M	ENSP00000366084:V332M	V	-	1	0	ABCC4	94656954	0.001000	0.12720	0.989000	0.46669	0.096000	0.18686	-0.721000	0.04963	0.216000	0.20781	0.650000	0.86243	GTG	.	.		0.517	ABCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045478.2	NM_005845	
UGGT2	55757	hgsc.bcm.edu	37	13	96642227	96642227	+	Splice_Site	SNP	C	C	T			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr13:96642227C>T	ENST00000376747.3	-	8	1001	c.931G>A	c.(931-933)Gat>Aat	p.D311N	UGGT2_ENST00000467305.1_5'UTR|UGGT2_ENST00000376714.3_Intron|UGGT2_ENST00000397618.3_Splice_Site_p.D311N	NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	311					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						AATACTATACCTTGTAGTTCC	0.294																																					p.D311N		Atlas-SNP	.											.	UGGT2	127	.	0			c.G931A						.						170.0	171.0	170.0					13																	96642227		2203	4294	6497	SO:0001630	splice_region_variant	55757	exon8			CTATACCTTGTAG	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.931+1G>A	chr13.hg19:g.96642227C>T		54.0	0.0		76.0	23.0	NM_020121	A6NKL4|Q08AD0|Q5JQR8|Q8N5K0|Q9UFC4	Missense_Mutation	SNP	ENST00000376747.3	hg19	CCDS9480.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.910784	0.92178	.	.	ENSG00000102595	ENST00000376747;ENST00000397618	T;T	0.41400	1.0;1.0	5.48	5.48	0.80851	.	0.094082	0.64402	N	0.000001	T	0.67543	0.2904	M	0.83483	2.645	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.974	D;D;P	0.66716	0.946;0.946;0.742	T	0.69537	-0.5119	9	.	.	.	-16.4242	18.4851	0.90825	0.0:1.0:0.0:0.0	.	311;311;311	Q2TAA6;E7EMU6;Q9NYU1	.;.;UGGG2_HUMAN	N	311	ENSP00000365938:D311N;ENSP00000380743:D311N	.	D	-	1	0	UGGT2	95440228	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	6.385000	0.73182	2.732000	0.93576	0.591000	0.81541	GAT	.	.		0.294	UGGT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045507.1	NM_020121	Missense_Mutation
IPO5	3843	hgsc.bcm.edu	37	13	98645235	98645235	+	Silent	SNP	T	T	C			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr13:98645235T>C	ENST00000490680.1	+	7	824	c.759T>C	c.(757-759)ccT>ccC	p.P253P	IPO5_ENST00000539640.1_Silent_p.P128P|IPO5_ENST00000261574.5_Silent_p.P271P			O00410	IPO5_HUMAN	importin 5	253					cellular response to amino acid stimulus (GO:0071230)|negative regulation of catalytic activity (GO:0043086)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein import into nucleus (GO:0042307)|ribosomal protein import into nucleus (GO:0006610)|viral process (GO:0016032)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	GTPase inhibitor activity (GO:0005095)|poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|Ran GTPase binding (GO:0008536)			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						ATTTGCGTCCTCACTTGGAAG	0.363																																					p.P271P		Atlas-SNP	.											.	IPO5	90	.	0			c.T813C						.						124.0	116.0	119.0					13																	98645235		2203	4300	6503	SO:0001819	synonymous_variant	3843	exon10			GCGTCCTCACTTG	U72761	CCDS31999.1	13q32.2	2012-05-02	2008-04-15	2008-04-15	ENSG00000065150	ENSG00000065150		"""Importins"""	6402	protein-coding gene	gene with protein product		602008	"""karyopherin (importin) beta 3"", ""RAN binding protein 5"""	KPNB3, RANBP5		9114010, 9271386, 17005651	Standard	NM_002271		Approved	IMB3, MGC2068, Pse1	uc001vne.3	O00410	OTTHUMG00000017244	ENST00000490680.1:c.759T>C	chr13.hg19:g.98645235T>C		97.0	0.0		80.0	4.0	NM_002271	B4DZA0|O15257|Q5T578|Q86XC7	Silent	SNP	ENST00000490680.1	hg19		.	.	.	.	.	.	.	.	.	.	T	10.94	1.492717	0.26774	.	.	ENSG00000065150	ENST00000469360	.	.	.	6.17	3.48	0.39840	.	.	.	.	.	T	0.43875	0.1267	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40117	-0.9580	4	.	.	.	-13.0217	1.223	0.01928	0.2392:0.1519:0.1101:0.4988	.	.	.	.	P	255	.	.	L	+	2	0	IPO5	97443236	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.805000	0.38883	1.161000	0.42604	0.533000	0.62120	CTC	.	.		0.363	IPO5-006	NOVEL	alternative_5_UTR|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000354655.1	NM_002271	
MYO16	23026	hgsc.bcm.edu	37	13	109661386	109661386	+	Missense_Mutation	SNP	T	T	C			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr13:109661386T>C	ENST00000357550.2	+	21	2559	c.2518T>C	c.(2518-2520)Ttt>Ctt	p.F840L	MYO16_ENST00000251041.5_Missense_Mutation_p.F840L|MYO16_ENST00000356711.2_Missense_Mutation_p.F840L|MYO16_ENST00000457511.2_Missense_Mutation_p.F352L	NM_001198950.1	NP_001185879.1			myosin XVI											NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			AGTTTTGGACTTTTTTTTCCA	0.353																																					p.F862L		Atlas-SNP	.											.,9	MYO16	285	.	0			c.T2584C						.						69.0	74.0	72.0					13																	109661386		2203	4300	6503	SO:0001583	missense	23026	exon22			TTGGACTTTTTTT		CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"""Myosins / Myosin superfamily : Class XVI"", ""Ankyrin repeat domain containing"""	29822	protein-coding gene	gene with protein product	"""neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3"", ""protein phosphatase 1, regulatory subunit 107"""	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.2518T>C	chr13.hg19:g.109661386T>C	ENSP00000350160:p.Phe840Leu	42.0	0.0		28.0	2.0	NM_001198950		Missense_Mutation	SNP	ENST00000357550.2	hg19	CCDS32008.1	.	.	.	.	.	.	.	.	.	.	T	14.74	2.625318	0.46840	.	.	ENSG00000041515	ENST00000356711;ENST00000397258;ENST00000357550;ENST00000251041;ENST00000375857;ENST00000457511	T;T;T;T	0.76186	-1.0;-1.0;-1.0;-1.0	5.66	5.66	0.87406	Myosin head, motor domain (2);	0.000000	0.41938	U	0.000788	T	0.62865	0.2463	N	0.00637	-1.305	0.58432	D	0.999998	D;P;D	0.89917	0.98;0.885;1.0	P;P;D	0.81914	0.689;0.482;0.995	T	0.72253	-0.4347	9	.	.	.	.	15.3717	0.74570	0.0:0.0:0.0:1.0	.	352;840;840	F8W883;Q9Y6X6-2;Q9Y6X6	.;.;MYO16_HUMAN	L	840;840;840;840;628;352	ENSP00000349145:F840L;ENSP00000350160:F840L;ENSP00000251041:F840L;ENSP00000401633:F352L	.	F	+	1	0	MYO16	108459387	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.509000	0.73725	2.278000	0.76064	0.533000	0.62120	TTT	.	.		0.353	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1	NM_015011	
Unknown	0	hgsc.bcm.edu	37	14	20181616	20181616	+	IGR	SNP	G	G	T			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr14:20181616G>T								RP11-597A11.2 (28718 upstream) : OR4Q3 (33970 downstream)																							GCATAGAGATGCCCAGTCATG	0.473																																					p.H154N		Atlas-SNP	.											.	.	.	.	0			c.C460A						.																																			SO:0001628	intergenic_variant	79334	exon2			AGAGATGCCCAGT																													chr14.hg19:g.20181616G>T		372.0	0.0		414.0	158.0	NM_001197287		Missense_Mutation	SNP		hg19																																																																																				.	.	0	0.473								
TEP1	7011	hgsc.bcm.edu	37	14	20853228	20853228	+	Missense_Mutation	SNP	T	T	C			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr14:20853228T>C	ENST00000262715.5	-	21	3063	c.3023A>G	c.(3022-3024)gAg>gGg	p.E1008G	TEP1_ENST00000556935.1_Missense_Mutation_p.E900G|TEP1_ENST00000545983.1_5'Flank	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1008					RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CTGCATCACCTCCATCTCTGT	0.577																																					p.E1008G		Atlas-SNP	.											.	TEP1	224	.	0			c.A3023G						.						112.0	98.0	103.0					14																	20853228		2203	4300	6503	SO:0001583	missense	7011	exon21			ATCACCTCCATCT		CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.3023A>G	chr14.hg19:g.20853228T>C	ENSP00000262715:p.Glu1008Gly	64.0	0.0		107.0	5.0	NM_007110	A0AUV9	Missense_Mutation	SNP	ENST00000262715.5	hg19	CCDS9548.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.165035	0.78339	.	.	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935	T;T	0.19806	2.12;2.12	4.52	4.52	0.55395	.	0.105694	0.64402	D	0.000007	T	0.48021	0.1477	M	0.84683	2.71	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.83275	0.996;0.996;0.992	T	0.53401	-0.8444	10	0.72032	D	0.01	-21.5764	10.2378	0.43294	0.0:0.0:0.0:1.0	.	900;358;1008	G3V5X7;G3V2A4;Q99973	.;.;TEP1_HUMAN	G	1008;1008;900	ENSP00000262715:E1008G;ENSP00000452574:E900G	ENSP00000262715:E1008G	E	-	2	0	TEP1	19923068	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.360000	0.59455	1.662000	0.50781	0.459000	0.35465	GAG	.	.		0.577	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110	
ARHGAP5	394	hgsc.bcm.edu	37	14	32560165	32560165	+	Missense_Mutation	SNP	A	A	T			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr14:32560165A>T	ENST00000345122.3	+	2	605	c.290A>T	c.(289-291)gAg>gTg	p.E97V	ARHGAP5_ENST00000432921.1_Missense_Mutation_p.E97V|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.E97V|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.E97V|ARHGAP5_ENST00000396582.2_Intron	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	97					cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|mammary gland development (GO:0030879)|positive regulation of cell migration (GO:0030335)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell size (GO:0008361)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		GAACAAACAGAGTTCATTGAT	0.373																																					p.E97V	NSCLC(9;77 350 3443 29227 41353)	Atlas-SNP	.											.	ARHGAP5	166	.	0			c.A290T						.						86.0	85.0	86.0					14																	32560165		2202	4299	6501	SO:0001583	missense	394	exon2			AAACAGAGTTCAT	U17032	CCDS32062.1, CCDS45095.1	14q12	2010-02-05						"""Rho GTPase activating proteins"""	675	protein-coding gene	gene with protein product		602680	"""growth factor independent 2"""	GFI2		8537347	Standard	XM_005267635		Approved	RhoGAP5, p190-B, p190BRhoGAP	uc001wrn.3	Q13017		ENST00000345122.3:c.290A>T	chr14.hg19:g.32560165A>T	ENSP00000371897:p.Glu97Val	89.0	0.0		68.0	16.0	NM_001173	A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	Missense_Mutation	SNP	ENST00000345122.3	hg19	CCDS32062.1	.	.	.	.	.	.	.	.	.	.	A	14.89	2.670382	0.47677	.	.	ENSG00000100852	ENST00000556611;ENST00000539826;ENST00000345122;ENST00000432921;ENST00000556191	T;T;T;T;T	0.51574	2.47;2.47;2.47;2.47;0.7	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.68238	0.2979	M	0.70842	2.15	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.72316	-0.4330	10	0.87932	D	0	.	15.5311	0.75964	1.0:0.0:0.0:0.0	.	97;97	Q13017-2;Q13017	.;RHG05_HUMAN	V	97	ENSP00000452222:E97V;ENSP00000441692:E97V;ENSP00000371897:E97V;ENSP00000393307:E97V;ENSP00000451579:E97V	ENSP00000371897:E97V	E	+	2	0	ARHGAP5	31629916	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.064000	0.61679	0.533000	0.62120	GAG	.	.		0.373	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409735.1	NM_001030055	
SPTSSA	171546	hgsc.bcm.edu	37	14	34931375	34931375	+	Missense_Mutation	SNP	C	C	T			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr14:34931375C>T	ENST00000298130.4	-	1	187	c.39G>A	c.(37-39)atG>atA	p.M13I		NM_138288.3	NP_612145.2	Q969W0	SPTSA_HUMAN	serine palmitoyltransferase, small subunit A	13					sphingolipid biosynthetic process (GO:0030148)	integral component of membrane (GO:0016021)|serine C-palmitoyltransferase complex (GO:0017059)											AGAACCAGGACATCTGCTTCC	0.687																																					p.M13I		Atlas-SNP	.											.	.	.	.	0			c.G39A						.						27.0	25.0	25.0					14																	34931375		2203	4296	6499	SO:0001583	missense	171546	exon1			CCAGGACATCTGC	AK001993	CCDS9647.2	14q13.1	2011-07-26	2011-07-26	2011-07-26	ENSG00000165389	ENSG00000165389			20361	protein-coding gene	gene with protein product	"""small subunit of serine palmitoyltransferase A"""	613540	"""chromosome 14 open reading frame 147"""	C14orf147		19416851	Standard	NM_138288		Approved	ssSPTa	uc001wsc.3	Q969W0	OTTHUMG00000140212	ENST00000298130.4:c.39G>A	chr14.hg19:g.34931375C>T	ENSP00000298130:p.Met13Ile	120.0	0.0		149.0	25.0	NM_138288	B2RD54|D3DS93|Q8WTZ7	Missense_Mutation	SNP	ENST00000298130.4	hg19	CCDS9647.2	.	.	.	.	.	.	.	.	.	.	c	12.20	1.866132	0.32977	.	.	ENSG00000165389	ENST00000298130	.	.	.	4.02	4.02	0.46733	.	0.061470	0.64402	D	0.000005	T	0.40886	0.1135	.	.	.	0.43313	D	0.995328	B	0.02656	0.0	B	0.04013	0.001	T	0.27123	-1.0083	8	0.10636	T	0.68	-12.7977	16.7074	0.85376	0.0:1.0:0.0:0.0	.	13	Q969W0	SPTSA_HUMAN	I	13	.	ENSP00000298130:M13I	M	-	3	0	SPTSSA	34001126	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	1.610000	0.36869	2.243000	0.73865	0.484000	0.47621	ATG	.	.		0.687	SPTSSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276640.2	NM_138288	
KTN1	3895	hgsc.bcm.edu	37	14	56138558	56138558	+	Missense_Mutation	SNP	A	A	G			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr14:56138558A>G	ENST00000395314.3	+	37	3562	c.3494A>G	c.(3493-3495)aAa>aGa	p.K1165R	KTN1_ENST00000416613.1_Missense_Mutation_p.K1165R|KTN1_ENST00000395311.1_Missense_Mutation_p.K1142R|KTN1_ENST00000395309.3_Missense_Mutation_p.K1165R|KTN1_ENST00000395308.1_Missense_Mutation_p.K1142R|KTN1_ENST00000554507.1_Missense_Mutation_p.K431R|KTN1_ENST00000555573.1_Missense_Mutation_p.K170R|KTN1_ENST00000438792.2_Missense_Mutation_p.K1136R|KTN1_ENST00000413890.2_Missense_Mutation_p.K1142R	NM_001079521.1	NP_001072989.1	Q86UP2	KTN1_HUMAN	kinectin 1 (kinesin receptor)	1165					microtubule-based movement (GO:0007018)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						AATAAATGGAAAGTTAAGGTC	0.363			T	RET	papillary thryoid																																p.K1165R		Atlas-SNP	.		Dom	yes		14	14q22.1	3895	kinectin 1 (kinesin receptor)		E	.	KTN1	147	.	0			c.A3494G						.						85.0	88.0	87.0					14																	56138558		2203	4300	6503	SO:0001583	missense	3895	exon37			AATGGAAAGTTAA		CCDS41957.1, CCDS41958.1, CCDS41959.1	14q22.1	2008-05-02			ENSG00000126777	ENSG00000126777			6467	protein-coding gene	gene with protein product		600381				9605849	Standard	NM_001079521		Approved	KIAA0004, CG1	uc001xcc.3	Q86UP2	OTTHUMG00000140312	ENST00000395314.3:c.3494A>G	chr14.hg19:g.56138558A>G	ENSP00000378725:p.Lys1165Arg	132.0	0.0		99.0	4.0	NM_001079521	B4DZ88|Q13999|Q14707|Q15387|Q17RZ5|Q5GGW3|Q86W57	Missense_Mutation	SNP	ENST00000395314.3	hg19	CCDS41957.1	.	.	.	.	.	.	.	.	.	.	A	15.19	2.759499	0.49468	.	.	ENSG00000126777	ENST00000413890;ENST00000395309;ENST00000438792;ENST00000395314;ENST00000395308;ENST00000395311;ENST00000416613;ENST00000554507;ENST00000553624;ENST00000555573	T;T;T;T;T;T;T;T;T;T	0.78707	1.23;1.23;1.23;1.23;1.23;1.23;1.23;-1.2;1.23;-1.2	5.53	5.53	0.82687	.	0.000000	0.56097	D	0.000027	D	0.84261	0.5433	L	0.51914	1.62	0.39711	D	0.971338	D;D;D;D;P;D	0.89917	0.998;0.998;1.0;0.999;0.702;0.998	D;D;D;D;P;D	0.91635	0.998;0.997;0.999;0.996;0.519;0.998	T	0.82542	-0.0405	10	0.25751	T	0.34	-23.2499	15.9509	0.79835	1.0:0.0:0.0:0.0	.	170;1165;431;1136;1142;1165	B7Z6P3;B4DZ88;G3V4Y7;Q86UP2-2;Q17RZ5;Q86UP2	.;.;.;.;.;KTN1_HUMAN	R	1142;1165;1136;1165;1142;1142;1165;431;126;170	ENSP00000394992:K1142R;ENSP00000378720:K1165R;ENSP00000391964:K1136R;ENSP00000378725:K1165R;ENSP00000378719:K1142R;ENSP00000378722:K1142R;ENSP00000388807:K1165R;ENSP00000452073:K431R;ENSP00000452445:K126R;ENSP00000451698:K170R	ENSP00000378719:K1142R	K	+	2	0	KTN1	55208311	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.023000	0.57211	2.225000	0.72522	0.533000	0.62120	AAA	.	.		0.363	KTN1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276912.2		
PELI2	57161	hgsc.bcm.edu	37	14	56645115	56645115	+	Missense_Mutation	SNP	A	A	G			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr14:56645115A>G	ENST00000267460.4	+	2	426	c.140A>G	c.(139-141)aAg>aGg	p.K47R		NM_021255.2	NP_067078.1	Q9HAT8	PELI2_HUMAN	pellino E3 ubiquitin protein ligase family member 2	47	FHA; atypical.				innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein phosphorylation (GO:0001934)|protein ubiquitination (GO:0016567)|Toll signaling pathway (GO:0008063)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|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)	cytosol (GO:0005829)	ligase activity (GO:0016874)			kidney(6)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	22						GCCCTCTACAAGCGGCCCAAG	0.507																																					p.K47R		Atlas-SNP	.											.	PELI2	55	.	0			c.A140G						.						118.0	111.0	113.0					14																	56645115		2203	4300	6503	SO:0001583	missense	57161	exon2			TCTACAAGCGGCC	AF302502	CCDS9726.1	14q21	2012-02-23	2012-02-23		ENSG00000139946	ENSG00000139946		"""Pellino homologs"""	8828	protein-coding gene	gene with protein product		614798	"""pellino (Drosophila) homolog 2"", ""pellino homolog 2 (Drosophila)"""			11306823, 12860405	Standard	XM_006720211		Approved		uc001xch.3	Q9HAT8	OTTHUMG00000152336	ENST00000267460.4:c.140A>G	chr14.hg19:g.56645115A>G	ENSP00000267460:p.Lys47Arg	106.0	0.0		91.0	4.0	NM_021255	B2RDY5	Missense_Mutation	SNP	ENST00000267460.4	hg19	CCDS9726.1	.	.	.	.	.	.	.	.	.	.	A	10.55	1.381315	0.24944	.	.	ENSG00000139946	ENST00000267460	T	0.39056	1.1	5.93	4.77	0.60923	.	0.149301	0.56097	D	0.000033	T	0.30198	0.0757	L	0.31207	0.915	0.38229	D	0.940991	B	0.10296	0.003	B	0.11329	0.006	T	0.11817	-1.0572	10	0.17369	T	0.5	-30.7734	12.4374	0.55606	0.8595:0.1405:0.0:0.0	.	47	Q9HAT8	PELI2_HUMAN	R	47	ENSP00000267460:K47R	ENSP00000267460:K47R	K	+	2	0	PELI2	55714868	1.000000	0.71417	0.998000	0.56505	0.761000	0.43186	3.233000	0.51311	1.041000	0.40125	-0.323000	0.08544	AAG	.	.		0.507	PELI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276925.1		
C14orf37	145407	hgsc.bcm.edu	37	14	58605485	58605485	+	Missense_Mutation	SNP	C	C	T			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr14:58605485C>T	ENST00000267485.7	-	2	786	c.592G>A	c.(592-594)Gaa>Aaa	p.E198K	C14orf37_ENST00000334342.5_5'UTR	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37	198						integral component of membrane (GO:0016021)				breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						CCAACTCCTTCCTGACTTTCA	0.388																																					p.E198K		Atlas-SNP	.											.	C14orf37	87	.	0			c.G592A						.						120.0	115.0	117.0					14																	58605485		2203	4300	6503	SO:0001583	missense	145407	exon2			CTCCTTCCTGACT		CCDS32089.1	14q23.1	2012-09-03			ENSG00000139971	ENSG00000139971			19846	protein-coding gene	gene with protein product							Standard	NM_001001872		Approved		uc001xdc.3	Q86TY3	OTTHUMG00000171173	ENST00000267485.7:c.592G>A	chr14.hg19:g.58605485C>T	ENSP00000267485:p.Glu198Lys	116.0	0.0		94.0	4.0	NM_001001872	A8K8Z8|Q6P5Q1|Q86TY1	Missense_Mutation	SNP	ENST00000267485.7	hg19	CCDS32089.1	.	.	.	.	.	.	.	.	.	.	C	6.009	0.370132	0.11352	.	.	ENSG00000139971	ENST00000267485;ENST00000438670	T	0.32988	1.43	5.76	3.94	0.45596	.	0.852017	0.10635	N	0.651714	T	0.24044	0.0582	L	0.50333	1.59	0.09310	N	0.999997	B;P;B;B	0.34462	0.091;0.454;0.091;0.091	B;B;B;B	0.30572	0.032;0.117;0.032;0.032	T	0.20107	-1.0285	10	0.18276	T	0.48	-0.1043	6.1486	0.20298	0.0:0.6805:0.1543:0.1652	.	236;198;198;198	B4DMS4;Q86TY3-2;A8K990;Q86TY3	.;.;.;CN037_HUMAN	K	198;236	ENSP00000267485:E198K	ENSP00000267485:E198K	E	-	1	0	C14orf37	57675238	0.635000	0.27199	0.731000	0.30826	0.619000	0.37552	1.784000	0.38674	0.787000	0.33731	0.655000	0.94253	GAA	.	.		0.388	C14orf37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412059.1	NM_001001872	
PLEKHG3	26030	hgsc.bcm.edu	37	14	65208191	65208191	+	Silent	SNP	C	C	T			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr14:65208191C>T	ENST00000394691.1	+	16	2103	c.1956C>T	c.(1954-1956)gcC>gcT	p.A652A	PLEKHG3_ENST00000471182.2_Silent_p.A185A|PLEKHG3_ENST00000247226.7_Silent_p.A596A|PLEKHG3_ENST00000484731.2_Silent_p.A157A			A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	652							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		AGGGCCTGGCCCGGCATGGCA	0.652																																					p.A596A		Atlas-SNP	.											.	PLEKHG3	89	.	0			c.C1788T						.						32.0	38.0	36.0					14																	65208191		2203	4300	6503	SO:0001819	synonymous_variant	26030	exon14			CCTGGCCCGGCAT	AB011171	CCDS32098.1	14q23.3	2013-01-10	2004-12-01	2004-12-01	ENSG00000126822	ENSG00000126822		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	20364	protein-coding gene	gene with protein product			"""KIAA0599"""	KIAA0599			Standard	XM_005267511		Approved	ARHGEF43	uc001xhp.2	A1L390	OTTHUMG00000029671	ENST00000394691.1:c.1956C>T	chr14.hg19:g.65208191C>T		58.0	0.0		61.0	31.0	NM_015549	A1L389|B5MEC9|O60339|Q6GMS3|Q6P4B1|Q7L3S3|Q86SW7|Q8TEF5|Q96EW6|Q9BT82	Silent	SNP	ENST00000394691.1	hg19																																																																																				.	.		0.652	PLEKHG3-010	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000412028.1	NM_015549	
GPHN	10243	hgsc.bcm.edu	37	14	67243210	67243210	+	Missense_Mutation	SNP	A	A	G			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr14:67243210A>G	ENST00000315266.5	+	3	1293	c.172A>G	c.(172-174)Ata>Gta	p.I58V	GPHN_ENST00000543237.1_Missense_Mutation_p.I58V|GPHN_ENST00000478722.1_Missense_Mutation_p.I58V|GPHN_ENST00000305960.9_Missense_Mutation_p.I58V|GPHN_ENST00000459628.1_Missense_Mutation_p.I58V	NM_001024218.1	NP_001019389.1	Q9NQX3	GEPH_HUMAN	gephyrin	58	MPT Mo-transferase.				establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycine receptor clustering (GO:0072579)|Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|molybdopterin cofactor biosynthetic process (GO:0032324)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|inhibitory synapse (GO:0060077)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|molybdopterin adenylyltransferase activity (GO:0061598)|molybdopterin molybdotransferase activity (GO:0061599)|transferase activity (GO:0016740)			large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		AGCATACAAGATAGTACCAGA	0.358			T	MLL	AL																																p.I58V		Atlas-SNP	.		Dom	yes		14	14q24	10243	gephyrin (GPH)		L	.	GPHN	79	.	0			c.A172G						.						164.0	166.0	165.0					14																	67243210		2203	4300	6503	SO:0001583	missense	10243	exon3			TACAAGATAGTAC	AB037806	CCDS9777.1, CCDS32103.1	14q23.3	2008-04-22			ENSG00000171723	ENSG00000171723			15465	protein-coding gene	gene with protein product		603930				1319186, 10325225, 18403029	Standard	XM_005267250		Approved	KIAA1385	uc001xix.3	Q9NQX3	OTTHUMG00000029785	ENST00000315266.5:c.172A>G	chr14.hg19:g.67243210A>G	ENSP00000312771:p.Ile58Val	108.0	0.0		85.0	4.0	NM_001024218	Q9H4E9|Q9P2G2	Missense_Mutation	SNP	ENST00000315266.5	hg19	CCDS32103.1	.	.	.	.	.	.	.	.	.	.	A	15.80	2.939390	0.52972	.	.	ENSG00000171723	ENST00000315266;ENST00000478722;ENST00000459628;ENST00000543237;ENST00000305960	T;T;T;T;T	0.75477	-0.94;-0.94;-0.94;-0.94;-0.94	5.39	5.39	0.77823	Molybdenum cofactor synthesis (1);Molybdopterin binding (4);	0.000000	0.85682	D	0.000000	T	0.66066	0.2752	N	0.04043	-0.29	0.45946	D	0.998775	B;P;B;B;P	0.37083	0.103;0.581;0.015;0.332;0.527	B;P;B;P;B	0.50352	0.271;0.638;0.109;0.45;0.31	T	0.68988	-0.5264	10	0.33141	T	0.24	-11.5435	14.2406	0.65954	1.0:0.0:0.0:0.0	.	58;58;58;58;58	F8W7D6;F5H039;Q9NQX3;Q9NQX3-2;G3V582	.;.;GEPH_HUMAN;.;.	V	58	ENSP00000312771:I58V;ENSP00000417901:I58V;ENSP00000452220:I58V;ENSP00000438404:I58V;ENSP00000303019:I58V	ENSP00000303019:I58V	I	+	1	0	GPHN	66312963	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.492000	0.66893	2.168000	0.68352	0.477000	0.44152	ATA	.	.		0.358	GPHN-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000074299.2	NM_020806	
ZFYVE26	23503	hgsc.bcm.edu	37	14	68241773	68241773	+	Silent	SNP	A	A	G			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr14:68241773A>G	ENST00000347230.4	-	27	5418	c.5280T>C	c.(5278-5280)ccT>ccC	p.P1760P	ZFYVE26_ENST00000555452.1_Silent_p.P1760P	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	1760					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		ATGGTGATCTAGGGAGGGTCT	0.443																																					p.P1760P		Atlas-SNP	.											.	ZFYVE26	223	.	0			c.T5280C						.						78.0	73.0	75.0					14																	68241773		2203	4300	6503	SO:0001819	synonymous_variant	23503	exon27			TGATCTAGGGAGG	AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"""Zinc fingers, FYVE domain containing"""	20761	protein-coding gene	gene with protein product	"""spastizin"", ""FYVE-CENT"""	612012	"""spastic paraplegia 15 (complicated, autosomal recessive)"""	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.5280T>C	chr14.hg19:g.68241773A>G		65.0	0.0		79.0	4.0	NM_015346	B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Silent	SNP	ENST00000347230.4	hg19	CCDS9788.1																																																																																			.	.		0.443	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2	NM_015346	
ELMSAN1	91748	hgsc.bcm.edu	37	14	74196575	74196575	+	Silent	SNP	A	A	C			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr14:74196575A>C	ENST00000286523.5	-	4	2645	c.1863T>G	c.(1861-1863)ccT>ccG	p.P621P	ELMSAN1_ENST00000394071.2_Silent_p.P621P	NM_194278.3	NP_919254.2	Q6PJG2	EMSA1_HUMAN	ELM2 and Myb/SANT-like domain containing 1	621					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)										AGTAGACGGGAGGGGCGATGA	0.632																																					p.P621P		Atlas-SNP	.											.	.	.	.	0			c.T1863G						.						57.0	56.0	56.0					14																	74196575		2203	4300	6503	SO:0001819	synonymous_variant	91748	exon4			GACGGGAGGGGCG	BF971739	CCDS9819.1	14q24.3	2012-09-25	2012-09-25	2012-09-25	ENSG00000156030	ENSG00000156030			19853	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 117"", ""chromosome 14 open reading frame 43"""	C14orf117, C14orf43			Standard	NM_194278		Approved	LSR68	uc001xou.3	Q6PJG2	OTTHUMG00000150359	ENST00000286523.5:c.1863T>G	chr14.hg19:g.74196575A>C		98.0	0.0		118.0	56.0	NM_194278	Q6PK13|Q6PK59|Q6ZS23	Silent	SNP	ENST00000286523.5	hg19	CCDS9819.1																																																																																			.	.		0.632	ELMSAN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317793.1	NM_194278	
PTGR2	145482	hgsc.bcm.edu	37	14	74325597	74325597	+	Missense_Mutation	SNP	G	G	A	rs548709026		TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr14:74325597G>A	ENST00000555661.1	+	2	177	c.32G>A	c.(31-33)cGa>cAa	p.R11Q	PTGR2_ENST00000267568.4_Missense_Mutation_p.R11Q|PTGR2_ENST00000553326.1_3'UTR|Y_RNA_ENST00000411368.1_RNA|PTGR2_ENST00000553813.1_5'Flank|RP5-1021I20.4_ENST00000556551.2_Missense_Mutation_p.R11Q|PTGR2_ENST00000555228.1_Missense_Mutation_p.R11Q			Q8N8N7	PTGR2_HUMAN	prostaglandin reductase 2	11					prostaglandin metabolic process (GO:0006693)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	13-prostaglandin reductase activity (GO:0036132)|15-oxoprostaglandin 13-oxidase activity (GO:0047522)			NS(1)|large_intestine(3)|lung(2)|prostate(1)|skin(2)	9					Indomethacin(DB00328)	TTGAATTCTCGACCTGGTATG	0.308																																					p.R11Q	Esophageal Squamous(98;1155 1417 16452 47043 47872)	Atlas-SNP	.											.	PTGR2	21	.	0			c.G32A						.						96.0	89.0	92.0					14																	74325597		2203	4299	6502	SO:0001583	missense	145482	exon2			ATTCTCGACCTGG	AK096410	CCDS9820.1	14q24.1-q24.2	2008-06-04	2008-06-02	2008-06-03		ENSG00000140043			20149	protein-coding gene	gene with protein product		608642	"""zinc binding alcohol dehydrogenase domain containing 1"""	ZADH1		17449869	Standard	NM_152444		Approved	FLJ39091	uc001xow.3	Q8N8N7		ENST00000555661.1:c.32G>A	chr14.hg19:g.74325597G>A	ENSP00000452280:p.Arg11Gln	118.0	0.0		117.0	5.0	NM_152444	Q3L8A4|Q6MZH8	Missense_Mutation	SNP	ENST00000555661.1	hg19	CCDS9820.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.760884	0.89932	.	.	ENSG00000140043	ENST00000555228;ENST00000555661;ENST00000555976;ENST00000267568	T;T;T;T	0.41400	1.0;1.0;1.0;1.0	4.76	4.76	0.60689	GroES-like (1);	0.132923	0.50627	D	0.000119	T	0.67211	0.2869	M	0.90082	3.085	0.58432	D	0.999999	D	0.89917	1.0	P	0.59703	0.862	T	0.76072	-0.3093	10	0.87932	D	0	-5.6036	15.757	0.78043	0.0:0.0:1.0:0.0	.	11	Q8N8N7	PTGR2_HUMAN	Q	11	ENSP00000450975:R11Q;ENSP00000452280:R11Q;ENSP00000450517:R11Q;ENSP00000267568:R11Q	ENSP00000267568:R11Q	R	+	2	0	PTGR2	73395350	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.141000	0.71744	2.465000	0.83290	0.650000	0.86243	CGA	.	.		0.308	PTGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412575.1		
TDP1	55775	hgsc.bcm.edu	37	14	90433726	90433726	+	Missense_Mutation	SNP	G	G	T	rs543257445		TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr14:90433726G>T	ENST00000335725.4	+	5	869	c.619G>T	c.(619-621)Gac>Tac	p.D207Y	TDP1_ENST00000393454.2_Missense_Mutation_p.D207Y|TDP1_ENST00000555565.1_3'UTR|TDP1_ENST00000357382.3_5'UTR|TDP1_ENST00000393452.3_Missense_Mutation_p.D207Y|TDP1_ENST00000555880.1_Missense_Mutation_p.D207Y	NM_018319.3	NP_060789.2	Q9NUW8	TYDP1_HUMAN	tyrosyl-DNA phosphodiesterase 1	207					cell death (GO:0008219)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|single strand break repair (GO:0000012)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	3'-tyrosyl-DNA phosphodiesterase activity (GO:0017005)|double-stranded DNA binding (GO:0003690)|exonuclease activity (GO:0004527)|single-stranded DNA binding (GO:0003697)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)		CTACTGCTTTGACGTGGACTG	0.398								Repair of DNA-protein crosslinks																													p.D207Y		Atlas-SNP	.											.	TDP1	47	.	0			c.G619T						.						189.0	182.0	184.0					14																	90433726		2203	4300	6503	SO:0001583	missense	55775	exon5			TGCTTTGACGTGG	AF182002	CCDS9888.1	14q32.11	2008-08-11				ENSG00000042088			18884	protein-coding gene	gene with protein product		607198				11839309, 12244316	Standard	XM_005267847		Approved	FLJ11090, SCAN1	uc001xxz.3	Q9NUW8		ENST00000335725.4:c.619G>T	chr14.hg19:g.90433726G>T	ENSP00000337353:p.Asp207Tyr	271.0	0.0		197.0	87.0	NM_018319	Q2HXX4|Q86TV8|Q96BK7|Q9NZM7|Q9NZM8	Missense_Mutation	SNP	ENST00000335725.4	hg19	CCDS9888.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.173126	0.78452	.	.	ENSG00000042088	ENST00000393452;ENST00000554180;ENST00000393454;ENST00000553617;ENST00000335725;ENST00000555880	T;T;T;T;T;T	0.62364	0.03;0.03;0.03;0.03;0.03;0.03	5.74	5.74	0.90152	.	0.096464	0.64402	D	0.000001	D	0.85932	0.5812	H	0.94542	3.55	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.994;0.996;0.996	D	0.89152	0.3524	10	0.87932	D	0	-22.7504	19.9403	0.97159	0.0:0.0:1.0:0.0	.	207;207;207	G3V2F4;E7EPD8;Q9NUW8	.;.;TYDP1_HUMAN	Y	207;207;207;108;207;207	ENSP00000377098:D207Y;ENSP00000450872:D207Y;ENSP00000377099:D207Y;ENSP00000450708:D108Y;ENSP00000337353:D207Y;ENSP00000450628:D207Y	ENSP00000337353:D207Y	D	+	1	0	TDP1	89503479	1.000000	0.71417	0.995000	0.50966	0.675000	0.39556	8.846000	0.92159	2.712000	0.92718	0.650000	0.86243	GAC	.	.		0.398	TDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411239.1	NM_018319	
CPSF2	53981	hgsc.bcm.edu	37	14	92624139	92624139	+	Missense_Mutation	SNP	T	T	C			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr14:92624139T>C	ENST00000298875.4	+	13	2017	c.1732T>C	c.(1732-1734)Tgt>Cgt	p.C578R		NM_017437.2	NP_059133.1	Q9P2I0	CPSF2_HUMAN	cleavage and polyadenylation specific factor 2, 100kDa	578					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)|mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	RNA binding (GO:0003723)			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	24		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.222)		GGCAGAGTGCTGTCGCGCCTT	0.448																																					p.C578R	Ovarian(78;28 1788 18702 44111)	Atlas-SNP	.											.	CPSF2	63	.	0			c.T1732C						.						76.0	75.0	75.0					14																	92624139		2203	4300	6503	SO:0001583	missense	53981	exon13			GAGTGCTGTCGCG	AB037788	CCDS9902.1	14q31.1	2008-07-28	2002-08-29			ENSG00000165934			2325	protein-coding gene	gene with protein product		606028	"""cleavage and polyadenylation specific factor 2, 100kD subunit"""			7969155, 11124543	Standard	NM_017437		Approved	KIAA1367	uc001yah.2	Q9P2I0		ENST00000298875.4:c.1732T>C	chr14.hg19:g.92624139T>C	ENSP00000298875:p.Cys578Arg	126.0	0.0		119.0	5.0	NM_017437	B3KME1|Q6NSJ1|Q9H3W7	Missense_Mutation	SNP	ENST00000298875.4	hg19	CCDS9902.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.360930	0.82353	.	.	ENSG00000165934	ENST00000298875	T	0.53206	0.63	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.64416	0.2596	M	0.68317	2.08	0.80722	D	1	D	0.59357	0.985	P	0.59357	0.856	T	0.68135	-0.5489	10	0.87932	D	0	.	16.0499	0.80749	0.0:0.0:0.0:1.0	.	578	Q9P2I0	CPSF2_HUMAN	R	578	ENSP00000298875:C578R	ENSP00000298875:C578R	C	+	1	0	CPSF2	91693892	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	7.946000	0.87746	2.193000	0.70182	0.533000	0.62120	TGT	.	.		0.448	CPSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412123.1		
C14orf177	283598	hgsc.bcm.edu	37	14	99182534	99182534	+	Silent	SNP	T	T	C	rs373583218|rs139827156	byFrequency	TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr14:99182534T>C	ENST00000325812.2	+	3	425	c.6T>C	c.(4-6)caT>caC	p.H2H		NM_182560.2	NP_872366.2	Q52M58	CN177_HUMAN	chromosome 14 open reading frame 177	2										endometrium(1)|kidney(1)|large_intestine(1)|lung(10)	13		Melanoma(154;0.128)				ACTGGATGCATCGGAAAGAGC	0.562																																					p.H2H		Atlas-SNP	.											.	C14orf177	37	.	0			c.T6C						.						66.0	52.0	57.0					14																	99182534		2203	4290	6493	SO:0001819	synonymous_variant	283598	exon3			GATGCATCGGAAA	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.6T>C	chr14.hg19:g.99182534T>C		0.0	0.0		6.0	5.0	NM_182560	Q8N7D2	Silent	SNP	ENST00000325812.2	hg19	CCDS9948.1																																																																																			.	.		0.562	C14orf177-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396078.1	NM_182560	
TYRO3	7301	hgsc.bcm.edu	37	15	41865543	41865543	+	Missense_Mutation	SNP	G	G	C	rs116540200	byFrequency	TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr15:41865543G>C	ENST00000263798.3	+	17	2247	c.2023G>C	c.(2023-2025)Gga>Cga	p.G675R	TYRO3_ENST00000559066.1_Missense_Mutation_p.G630R	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase	675	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic cell clearance (GO:0043277)|cell adhesion (GO:0007155)|forebrain cell migration (GO:0021885)|natural killer cell differentiation (GO:0001779)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|neuron cellular homeostasis (GO:0070050)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol 3-kinase signaling (GO:0014065)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|protein autophosphorylation (GO:0046777)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.G675R(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		GGCTGACTTCGGACTCTCCCG	0.587																																					p.G675R		Atlas-SNP	.											TYRO3_ENST00000263798,colon,carcinoma,0,3	TYRO3	169	.	1	Substitution - Missense(1)	stomach(1)	c.G2023C						.						192.0	196.0	194.0					15																	41865543		2203	4300	6503	SO:0001583	missense	7301	exon17			GACTTCGGACTCT	D50479	CCDS10080.1	15q15.1-q21.1	2013-02-11			ENSG00000092445	ENSG00000092445	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12446	protein-coding gene	gene with protein product		600341		RSE		7851890	Standard	NM_006293		Approved	Dtk, Brt, Tif, Sky	uc001zof.2	Q06418	OTTHUMG00000130341	ENST00000263798.3:c.2023G>C	chr15.hg19:g.41865543G>C	ENSP00000263798:p.Gly675Arg	112.0	0.0		102.0	35.0	NM_006293	O14953|Q86VR3	Missense_Mutation	SNP	ENST00000263798.3	hg19	CCDS10080.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.525914	0.85600	.	.	ENSG00000092445	ENST00000540218;ENST00000263798	D	0.92858	-3.12	5.55	5.55	0.83447	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.39475	N	0.001347	D	0.97794	0.9276	H	0.97465	4.01	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98903	1.0777	10	0.87932	D	0	-10.6616	19.5084	0.95130	0.0:0.0:1.0:0.0	.	675	Q06418	TYRO3_HUMAN	R	607;675	ENSP00000263798:G675R	ENSP00000263798:G675R	G	+	1	0	TYRO3	39652835	1.000000	0.71417	0.997000	0.53966	0.716000	0.41182	9.869000	0.99810	2.612000	0.88384	0.655000	0.94253	GGA	.	G|0.995;A|0.005		0.587	TYRO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252693.2		
CDAN1	146059	hgsc.bcm.edu	37	15	43027504	43027504	+	Missense_Mutation	SNP	C	C	T			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr15:43027504C>T	ENST00000356231.3	-	5	1035	c.1012G>A	c.(1012-1014)Gtg>Atg	p.V338M		NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1	338					chromatin assembly (GO:0031497)|chromatin organization (GO:0006325)|negative regulation of DNA replication (GO:0008156)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		TTGGCAGTCACCATCCTCCGG	0.498																																					p.V338M		Atlas-SNP	.											.	CDAN1	70	.	0			c.G1012A						.						35.0	36.0	36.0					15																	43027504		2203	4299	6502	SO:0001583	missense	146059	exon5			CAGTCACCATCCT	AF525398	CCDS32209.1	15q15.2	2012-04-25	2012-04-25			ENSG00000140326			1713	protein-coding gene	gene with protein product		607465	"""congenital dyserythropoietic anemia, type I"""			8634422, 12434312	Standard	XM_005254177		Approved	CDA-I, CDAI	uc001zql.3	Q8IWY9		ENST00000356231.3:c.1012G>A	chr15.hg19:g.43027504C>T	ENSP00000348564:p.Val338Met	53.0	0.0		60.0	4.0	NM_138477	Q6NYD0|Q7Z7L5|Q969N3	Missense_Mutation	SNP	ENST00000356231.3	hg19	CCDS32209.1	.	.	.	.	.	.	.	.	.	.	C	11.58	1.682221	0.29872	.	.	ENSG00000140326	ENST00000356231;ENST00000267892	D	0.86694	-2.16	5.94	2.57	0.30868	.	0.630111	0.16968	N	0.192216	T	0.74344	0.3704	N	0.22421	0.69	0.09310	N	1	B	0.24920	0.114	B	0.21708	0.036	T	0.63189	-0.6693	10	0.49607	T	0.09	-7.1626	2.866	0.05601	0.1811:0.5279:0.1245:0.1665	.	338	Q8IWY9	CDAN1_HUMAN	M	338;336	ENSP00000348564:V338M	ENSP00000267892:V336M	V	-	1	0	CDAN1	40814796	0.475000	0.25894	1.000000	0.80357	0.804000	0.45430	0.410000	0.21098	0.837000	0.34925	0.561000	0.74099	GTG	.	.		0.498	CDAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000431103.1	XM_085300	
CEP152	22995	hgsc.bcm.edu	37	15	49073394	49073394	+	Splice_Site	SNP	T	T	C			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr15:49073394T>C	ENST00000380950.2	-	12	1763	c.1576A>G	c.(1576-1578)Agc>Ggc	p.S526G	CEP152_ENST00000399334.3_Splice_Site_p.S526G|RP11-485O10.2_ENST00000558304.1_RNA|CEP152_ENST00000325747.5_Splice_Site_p.S433G	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	526					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		TTTCCATACCTGGTAACTTTG	0.333																																					p.S526G		Atlas-SNP	.											.	CEP152	145	.	0			c.A1576G						.						79.0	76.0	77.0					15																	49073394		1804	4075	5879	SO:0001630	splice_region_variant	22995	exon12			CATACCTGGTAAC	AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20							29298	protein-coding gene	gene with protein product	"""asterless"""	613529	"""microcephaly, primary autosomal recessive 4"""	MCPH4		14654843, 21131973	Standard	NM_014985		Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.1577+1A>G	chr15.hg19:g.49073394T>C		108.0	0.0		91.0	4.0	NM_014985	E7ER66|Q17RV1|Q6NTA0	Missense_Mutation	SNP	ENST00000380950.2	hg19	CCDS58361.1	.	.	.	.	.	.	.	.	.	.	T	15.38	2.816179	0.50527	.	.	ENSG00000103995	ENST00000380950;ENST00000325747;ENST00000399334;ENST00000541880	T;T;T	0.80653	-1.4;-1.4;-1.4	5.95	5.95	0.96441	.	0.290154	0.43919	D	0.000517	D	0.87152	0.6106	M	0.67953	2.075	0.37012	D	0.895795	D;D;D	0.76494	0.99;0.987;0.999	P;P;D	0.66602	0.789;0.768;0.945	D	0.86513	0.1811	10	0.21014	T	0.42	-5.2587	16.085	0.81038	0.0:0.0:0.0:1.0	.	433;526;526	O94986-1;E7ER66;O94986	.;.;CE152_HUMAN	G	526;433;526;526	ENSP00000370337:S526G;ENSP00000321000:S433G;ENSP00000382271:S526G	ENSP00000321000:S433G	S	-	1	0	CEP152	46860686	1.000000	0.71417	0.993000	0.49108	0.270000	0.26580	6.324000	0.72896	2.276000	0.75962	0.528000	0.53228	AGC	.	.		0.333	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417365.1	NM_014985	Missense_Mutation
MYO5A	4644	hgsc.bcm.edu	37	15	52605952	52605952	+	Missense_Mutation	SNP	C	C	T			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr15:52605952C>T	ENST00000399231.3	-	41	5752	c.5509G>A	c.(5509-5511)Gca>Aca	p.A1837T	MYO5A_ENST00000358212.6_Missense_Mutation_p.A1862T|MYO5A_ENST00000399233.2_Missense_Mutation_p.A1834T|MYO5A_ENST00000356338.6_Missense_Mutation_p.A1810T|MYO5A_ENST00000553916.1_Missense_Mutation_p.A1835T	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	1837					actin filament-based movement (GO:0030048)|anagen (GO:0042640)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum localization (GO:0051643)|exocytosis (GO:0006887)|insulin secretion (GO:0030073)|locomotion involved in locomotory behavior (GO:0031987)|long-chain fatty acid biosynthetic process (GO:0042759)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|membrane organization (GO:0061024)|myelination (GO:0042552)|odontogenesis (GO:0042476)|post-Golgi vesicle-mediated transport (GO:0006892)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|secretory granule localization (GO:0032252)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle transport along actin filament (GO:0030050)|vesicle-mediated transport (GO:0016192)|visual perception (GO:0007601)	actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|insulin-responsive compartment (GO:0032593)|intermediate filament (GO:0005882)|melanosome (GO:0042470)|membrane (GO:0016020)|microtubule plus-end (GO:0035371)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|microfilament motor activity (GO:0000146)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		GTTTCTAGTGCGAGGGAAGAT	0.488																																					p.A1837T		Atlas-SNP	.											.	MYO5A	145	.	0			c.G5509A						.						115.0	114.0	114.0					15																	52605952		1880	4120	6000	SO:0001583	missense	4644	exon41			CTAGTGCGAGGGA		CCDS42037.1, CCDS45262.1	15q21	2014-09-17	2006-09-29		ENSG00000197535	ENSG00000197535		"""Myosins / Myosin superfamily : Class V"""	7602	protein-coding gene	gene with protein product	"""myosin, heavy polypeptide kinase"", ""myosin heavy chain 12"", ""myoxin"", ""myosin V"""	160777	"""myosin VA (heavy polypeptide 12, myoxin)"""	MYH12		8188282, 8022818	Standard	NM_000259		Approved	MYO5, GS1, MYR12	uc002aby.2	Q9Y4I1	OTTHUMG00000137383	ENST00000399231.3:c.5509G>A	chr15.hg19:g.52605952C>T	ENSP00000382177:p.Ala1837Thr	74.0	0.0		70.0	4.0	NM_000259	A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	Missense_Mutation	SNP	ENST00000399231.3	hg19	CCDS42037.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.453929	0.84209	.	.	ENSG00000197535	ENST00000399231;ENST00000399229;ENST00000399233;ENST00000356338;ENST00000358212;ENST00000546028;ENST00000553916	D;D;D;D;D	0.86562	-2.08;-2.08;-2.12;-2.14;-2.08	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	D	0.87200	0.6118	N	0.11927	0.2	0.80722	D	1	B;B;D	0.89917	0.366;0.236;1.0	B;B;D	0.87578	0.05;0.024;0.998	T	0.82896	-0.0230	10	0.12430	T	0.62	.	20.1467	0.98079	0.0:1.0:0.0:0.0	.	567;1837;1810	B5LY56;Q9Y4I1;Q9Y4I1-2	.;MYO5A_HUMAN;.	T	1837;1344;1834;1810;1862;1440;1835	ENSP00000382177:A1837T;ENSP00000382179:A1834T;ENSP00000348693:A1810T;ENSP00000350945:A1862T;ENSP00000451109:A1835T	ENSP00000348693:A1810T	A	-	1	0	MYO5A	50393244	1.000000	0.71417	0.103000	0.21229	0.991000	0.79684	7.776000	0.85560	2.838000	0.97847	0.655000	0.94253	GCA	.	.		0.488	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268102.1	NM_000259	
RNF111	54778	hgsc.bcm.edu	37	15	59377873	59377873	+	Silent	SNP	A	A	G			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr15:59377873A>G	ENST00000557998.1	+	10	2726	c.2439A>G	c.(2437-2439)gaA>gaG	p.E813E	RNF111_ENST00000561186.1_Silent_p.E822E|RNF111_ENST00000434298.1_Silent_p.E822E|RNF111_ENST00000348370.4_Silent_p.E813E|RNF111_ENST00000559209.1_Silent_p.E822E	NM_001270530.1	NP_001257459.1	Q6ZNA4	RN111_HUMAN	ring finger protein 111	813					gene expression (GO:0010467)|pattern specification process (GO:0007389)|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 of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein polyubiquitination (GO:0000209)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ligase activity (GO:0016874)|SUMO polymer binding (GO:0032184)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		TGGGAATTGAAGCTGGAGTGA	0.433																																					p.E822E	NSCLC(72;983 1365 10746 34387 47081)	Atlas-SNP	.											.	RNF111	179	.	0			c.A2466G						.						151.0	126.0	135.0					15																	59377873		2192	4291	6483	SO:0001819	synonymous_variant	54778	exon10			AATTGAAGCTGGA	AL157474	CCDS10169.1, CCDS58365.1, CCDS58366.1	15q21	2013-01-09			ENSG00000157450	ENSG00000157450		"""RING-type (C3HC4) zinc fingers"""	17384	protein-coding gene	gene with protein product		605840				11298452	Standard	NM_017610		Approved	ARK, Arkadia, FLJ38008, DKFZP761D081	uc002aft.4	Q6ZNA4	OTTHUMG00000132716	ENST00000557998.1:c.2439A>G	chr15.hg19:g.59377873A>G		83.0	0.0		91.0	5.0	NM_001270528	C9JUS4|H0YN55|Q6P9A4|Q6ZMU2|Q7L428|Q7Z346|Q8N1P9|Q8WUA3|Q9NSR1	Silent	SNP	ENST00000557998.1	hg19	CCDS58366.1																																																																																			.	.		0.433	RNF111-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000416012.1	NM_017610	
RORA	6095	hgsc.bcm.edu	37	15	60907095	60907095	+	Intron	SNP	T	T	C			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr15:60907095T>C	ENST00000335670.6	-	2	297				RORA_ENST00000309157.4_Missense_Mutation_p.K90R|RP11-219B17.1_ENST00000558235.1_RNA|RORA_ENST00000261523.5_Intron|RP11-219B17.1_ENST00000559824.1_RNA|RORA_ENST00000560004.1_Intron	NM_134261.2	NP_599023.1	P35398	RORA_HUMAN	RAR-related orphan receptor A						angiogenesis (GO:0001525)|cellular response to hypoxia (GO:0071456)|cellular response to sterol (GO:0036315)|cerebellar granule cell precursor proliferation (GO:0021930)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|circadian regulation of gene expression (GO:0032922)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|muscle cell differentiation (GO:0042692)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|nitric oxide biosynthetic process (GO:0006809)|positive regulation of circadian rhythm (GO:0042753)|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)|regulation of cholesterol homeostasis (GO:2000188)|regulation of glucose metabolic process (GO:0010906)|regulation of macrophage activation (GO:0043030)|regulation of smoothened signaling pathway (GO:0008589)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription involved in cell fate commitment (GO:0060850)|regulation of transcription, DNA-templated (GO:0006355)|T-helper 17 cell differentiation (GO:0072539)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)|xenobiotic metabolic process (GO:0006805)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	direct ligand regulated sequence-specific DNA binding transcription factor activity (GO:0098531)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|oxysterol binding (GO:0008142)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator binding (GO:0001223)|transcription corepressor binding (GO:0001222)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	21						TAACGCACCTTTTCTCAATGC	0.418																																					p.K90R		Atlas-SNP	.											.	RORA	114	.	0			c.A269G						.						44.0	40.0	41.0					15																	60907095		2203	4300	6503	SO:0001627	intron_variant	6095	exon2			GCACCTTTTCTCA	U04897	CCDS10177.1, CCDS10178.1, CCDS10179.1, CCDS45271.1	15q21-q22	2013-01-16			ENSG00000069667	ENSG00000069667		"""Nuclear hormone receptors"""	10258	protein-coding gene	gene with protein product		600825				7926749	Standard	NM_134261		Approved	RZRA, ROR1, ROR2, ROR3, NR1F1	uc002agv.3	P35398	OTTHUMG00000132769	ENST00000335670.6:c.196+63760A>G	chr15.hg19:g.60907095T>C		103.0	0.0		77.0	4.0	NM_002943	P35397|P35399|P45445|Q495X4|Q96H83	Missense_Mutation	SNP	ENST00000335670.6	hg19	CCDS10177.1	.	.	.	.	.	.	.	.	.	.	T	0.007	-2.002097	0.00431	.	.	ENSG00000069667	ENST00000309157	D	0.94417	-3.42	3.93	-7.85	0.01192	.	.	.	.	.	T	0.81408	0.4816	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.69312	-0.5178	8	0.08599	T	0.76	.	1.6339	0.02738	0.2235:0.2635:0.3405:0.1726	.	90	P35398-3	.	R	90	ENSP00000309753:K90R	ENSP00000309753:K90R	K	-	2	0	RORA	58694387	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-1.706000	0.01895	-3.578000	0.00138	-1.339000	0.01253	AAA	.	.		0.418	RORA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256142.2		
DAPK2	23604	hgsc.bcm.edu	37	15	64263741	64263741	+	Missense_Mutation	SNP	A	A	G			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr15:64263741A>G	ENST00000457488.1	-	4	364	c.334T>C	c.(334-336)Ttc>Ctc	p.F112L	DAPK2_ENST00000261891.3_Missense_Mutation_p.F112L|DAPK2_ENST00000558069.1_Missense_Mutation_p.F112L|DAPK2_ENST00000558482.1_5'UTR	NM_014326.3	NP_055141.2	Q9UIK4	DAPK2_HUMAN	death-associated protein kinase 2	112	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				anoikis (GO:0043276)|apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of intrinsic apoptotic signaling pathway (GO:2001242)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	11				LUAD - Lung adenocarcinoma(2;0.215)		AGGAAATCGAAGAGCTCTCCT	0.562																																					p.F112L		Atlas-SNP	.											.	DAPK2	31	.	0			c.T334C						.						61.0	55.0	57.0					15																	64263741		2203	4300	6503	SO:0001583	missense	23604	exon4			AATCGAAGAGCTC	AB018001	CCDS10188.1	15q22.1	2008-07-18			ENSG00000035664	ENSG00000035664			2675	protein-coding gene	gene with protein product						10376525	Standard	XM_005254265		Approved	DRP-1, MGC119312	uc002amr.3	Q9UIK4	OTTHUMG00000132947	ENST00000457488.1:c.334T>C	chr15.hg19:g.64263741A>G	ENSP00000408277:p.Phe112Leu	83.0	0.0		84.0	4.0	NM_014326	E9JGM7|O75892|Q24JS1	Missense_Mutation	SNP	ENST00000457488.1	hg19	CCDS10188.1	.	.	.	.	.	.	.	.	.	.	A	35	5.467607	0.96257	.	.	ENSG00000035664	ENST00000261891;ENST00000457488	T;T	0.65916	-0.18;-0.18	5.4	5.4	0.78164	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.066090	0.64402	N	0.000012	T	0.71400	0.3335	L	0.37630	1.12	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.83275	0.985;0.996	T	0.74671	-0.3587	10	0.87932	D	0	.	14.9034	0.70699	1.0:0.0:0.0:0.0	.	112;112	E9JGM7;Q9UIK4	.;DAPK2_HUMAN	L	112	ENSP00000261891:F112L;ENSP00000408277:F112L	ENSP00000261891:F112L	F	-	1	0	DAPK2	62050794	1.000000	0.71417	0.995000	0.50966	0.996000	0.88848	9.287000	0.95975	2.176000	0.68965	0.379000	0.24179	TTC	.	.		0.562	DAPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256479.1	NM_014326	
DPP8	54878	hgsc.bcm.edu	37	15	65772582	65772582	+	Missense_Mutation	SNP	T	T	C			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr15:65772582T>C	ENST00000341861.5	-	10	2902	c.1322A>G	c.(1321-1323)gAa>gGa	p.E441G	DPP8_ENST00000339244.5_Intron|DPP8_ENST00000300141.6_Missense_Mutation_p.E425G|DPP8_ENST00000358939.4_Missense_Mutation_p.E425G|DPP8_ENST00000321147.6_Missense_Mutation_p.E441G|DPP8_ENST00000559233.1_Missense_Mutation_p.E441G|DPP8_ENST00000321118.7_Missense_Mutation_p.E441G	NM_197960.2	NP_932064.1	Q6V1X1	DPP8_HUMAN	dipeptidyl-peptidase 8	441					immune response (GO:0006955)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GTCTGTTGTTTCTTCATAGAT	0.333																																					p.E441G		Atlas-SNP	.											.	DPP8	78	.	0			c.A1322G						.						88.0	79.0	82.0					15																	65772582		2201	4299	6500	SO:0001583	missense	54878	exon11			GTTGTTTCTTCAT	AF221634	CCDS10207.1, CCDS10208.1, CCDS10209.1, CCDS10210.1	15q22	2008-07-18	2006-01-12		ENSG00000074603	ENSG00000074603			16490	protein-coding gene	gene with protein product	"""dipeptidyl peptidase VIII"", ""dipeptidyl peptidase IV-related protein-1"", ""prolyl dipeptidase DPP8"""	606819	"""dipeptidylpeptidase 8"""			11012666	Standard	XM_005254500		Approved	DP8, DPRP1, MSTP141, FLJ14920, FLJ20283, MGC26191	uc002aox.3	Q6V1X1	OTTHUMG00000133150	ENST00000341861.5:c.1322A>G	chr15.hg19:g.65772582T>C	ENSP00000339208:p.Glu441Gly	84.0	0.0		57.0	4.0	NM_197960	Q7Z4C8|Q7Z4D3|Q7Z4E1|Q8IWG7|Q8NEM5|Q96JX1|Q9HBM2|Q9HBM3|Q9HBM4|Q9HBM5|Q9NXF4	Missense_Mutation	SNP	ENST00000341861.5	hg19	CCDS10207.1	.	.	.	.	.	.	.	.	.	.	T	25.7	4.666962	0.88251	.	.	ENSG00000074603	ENST00000341861;ENST00000358939;ENST00000300141;ENST00000321147;ENST00000321118;ENST00000395652	T;T;T;T;T;T	0.38401	1.14;1.14;1.14;1.14;1.14;1.14	5.67	5.67	0.87782	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.65873	0.2733	M	0.87971	2.92	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.78314	0.979;0.991;0.979;0.988	T	0.72830	-0.4174	10	0.87932	D	0	-28.5277	15.9054	0.79423	0.0:0.0:0.0:1.0	.	425;425;441;441	Q6V1X1-3;Q6V1X1-4;Q6V1X1-2;Q6V1X1	.;.;.;DPP8_HUMAN	G	441;425;425;441;441;441	ENSP00000339208:E441G;ENSP00000351817:E425G;ENSP00000300141:E425G;ENSP00000318111:E441G;ENSP00000316373:E441G;ENSP00000379013:E441G	ENSP00000300141:E425G	E	-	2	0	DPP8	63559635	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.163000	0.77524	2.157000	0.67596	0.533000	0.62120	GAA	.	.		0.333	DPP8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256847.1	NM_017743	
MYO9A	4649	hgsc.bcm.edu	37	15	72122595	72122595	+	Missense_Mutation	SNP	G	G	A	rs371514628		TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr15:72122595G>A	ENST00000356056.5	-	40	7367	c.6895C>T	c.(6895-6897)Cgg>Tgg	p.R2299W	MYO9A_ENST00000424560.1_Missense_Mutation_p.R2370W|MYO9A_ENST00000444904.1_Missense_Mutation_p.R2280W|MYO9A_ENST00000564571.1_Missense_Mutation_p.R2299W	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	2299	Tail.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GAAGGCAACCGAACTACAACA	0.488																																					p.R2299W		Atlas-SNP	.											MYO9A,colon,carcinoma,0,1	MYO9A	203	.	0			c.C6895T						.	G	TRP/ARG	1,4397	2.1+/-5.4	0,1,2198	134.0	126.0	128.0		6895	3.8	0.1	15		128	1,8593	1.2+/-3.3	0,1,4296	no	missense	MYO9A	NM_006901.2	101	0,2,6494	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging	2299/2549	72122595	2,12990	2199	4297	6496	SO:0001583	missense	4649	exon40			GCAACCGAACTAC	AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"""Myosins / Myosin superfamily : Class IX"""	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.6895C>T	chr15.hg19:g.72122595G>A	ENSP00000348349:p.Arg2299Trp	108.0	0.0		86.0	19.0	NM_006901	B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Missense_Mutation	SNP	ENST00000356056.5	hg19	CCDS10239.1	.	.	.	.	.	.	.	.	.	.	G	18.27	3.587506	0.66105	2.27E-4	1.16E-4	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904	D;D;D	0.85556	-1.99;-2.0;-1.98	4.73	3.79	0.43588	.	.	.	.	.	D	0.84763	0.5544	L	0.60455	1.87	0.09310	N	0.999996	D;D	0.67145	0.996;0.994	B;P	0.46049	0.425;0.502	T	0.77194	-0.2677	9	0.66056	D	0.02	.	13.8244	0.63342	0.0:0.2922:0.7078:0.0	.	2299;2063	B2RTY4;B2RTY4-5	MYO9A_HUMAN;.	W	2299;2370;2280	ENSP00000348349:R2299W;ENSP00000399162:R2370W;ENSP00000398250:R2280W	ENSP00000348349:R2299W	R	-	1	2	MYO9A	69909649	0.995000	0.38212	0.088000	0.20740	0.981000	0.71138	4.128000	0.57951	1.324000	0.45282	0.655000	0.94253	CGG	.	.		0.488	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901	
NEIL1	79661	hgsc.bcm.edu	37	15	75641528	75641528	+	Silent	SNP	A	A	G			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr15:75641528A>G	ENST00000564784.1	+	3	911	c.282A>G	c.(280-282)ccA>ccG	p.P94P	NEIL1_ENST00000355059.4_Silent_p.P94P|NEIL1_ENST00000567959.1_Intron|NEIL1_ENST00000569035.1_Silent_p.P94P			Q96FI4	NEIL1_HUMAN	nei endonuclease VIII-like 1 (E. coli)	94					base-excision repair (GO:0006284)|negative regulation of nuclease activity (GO:0032074)|nucleotide-excision repair (GO:0006289)|response to oxidative stress (GO:0006979)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA N-glycosylase activity (GO:0019104)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|hydrolase activity, acting on glycosyl bonds (GO:0016798)|protein C-terminus binding (GO:0008022)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)	13						AGGAGCTGCCACGCCATGCCC	0.697								Base excision repair (BER), DNA glycosylases																													p.P180P		Atlas-SNP	.											.	NEIL1	36	.	0			c.A540G						.						31.0	31.0	31.0					15																	75641528		2195	4291	6486	SO:0001819	synonymous_variant	79661	exon2			GCTGCCACGCCAT	AK026055	CCDS10278.1	15q33.33	2008-07-18			ENSG00000140398	ENSG00000140398			18448	protein-coding gene	gene with protein product		608844				11904416	Standard	NM_024608		Approved	FLJ22402, hFPG1, NEI1, FPG1	uc002bae.4	Q96FI4	OTTHUMG00000142821	ENST00000564784.1:c.282A>G	chr15.hg19:g.75641528A>G		51.0	0.0		47.0	4.0	NM_001256552	D3DW75|Q6ZRA7|Q86XW7|Q9H6C3	Silent	SNP	ENST00000564784.1	hg19	CCDS10278.1	.	.	.	.	.	.	.	.	.	.	A	7.715	0.696046	0.15106	.	.	ENSG00000140398	ENST00000336572	.	.	.	5.4	-8.43	0.00953	.	.	.	.	.	T	0.48874	0.1524	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58983	-0.7539	5	0.48119	T	0.1	-17.2927	4.304	0.10938	0.1303:0.5039:0.1992:0.1666	.	.	.	.	A	80	.	ENSP00000338328:T80A	T	+	1	0	NEIL1	73428581	0.002000	0.14202	0.646000	0.29493	0.585000	0.36419	-1.219000	0.02973	-1.252000	0.02491	0.459000	0.35465	ACG	.	.		0.697	NEIL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419885.1	NM_024608	
AKAP13	11214	hgsc.bcm.edu	37	15	86123972	86123972	+	Silent	SNP	C	C	T			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr15:86123972C>T	ENST00000394518.2	+	7	2768	c.2673C>T	c.(2671-2673)gaC>gaT	p.D891D	RP11-815J21.2_ENST00000561409.1_RNA|AKAP13_ENST00000361243.2_Silent_p.D891D	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	891					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						GGAACACTGACTCTTCCCTGC	0.512																																					p.D891D	Melanoma(94;603 1453 3280 32295 32951)	Atlas-SNP	.											.	AKAP13	394	.	0			c.C2673T						.						71.0	70.0	70.0					15																	86123972		2202	4299	6501	SO:0001819	synonymous_variant	11214	exon7			CACTGACTCTTCC	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.2673C>T	chr15.hg19:g.86123972C>T		92.0	0.0		73.0	10.0	NM_007200	Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Silent	SNP	ENST00000394518.2	hg19	CCDS32319.1																																																																																			.	.		0.512	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	NM_007200	
LRRK1	79705	hgsc.bcm.edu	37	15	101606304	101606304	+	Missense_Mutation	SNP	T	T	C			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr15:101606304T>C	ENST00000388948.3	+	32	6021	c.5662T>C	c.(5662-5664)Tcc>Ccc	p.S1888P	RP11-505E24.2_ENST00000559857.1_RNA|LRRK1_ENST00000284395.5_Missense_Mutation_p.S1885P|LRRK1_ENST00000532145.1_3'UTR	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1											breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CGGTGCTGCCTCCGACAGGTC	0.617																																					p.S1888P		Atlas-SNP	.											.	LRRK1	310	.	0			c.T5662C						.						98.0	106.0	104.0					15																	101606304		2146	4265	6411	SO:0001583	missense	79705	exon32			GCTGCCTCCGACA	AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.5662T>C	chr15.hg19:g.101606304T>C	ENSP00000373600:p.Ser1888Pro	115.0	0.0		116.0	5.0	NM_024652		Missense_Mutation	SNP	ENST00000388948.3	hg19	CCDS42086.1	.	.	.	.	.	.	.	.	.	.	T	5.022	0.189800	0.09547	.	.	ENSG00000154237	ENST00000388948;ENST00000284395;ENST00000529762;ENST00000542170	T;T	0.74526	-0.82;-0.85	5.35	2.98	0.34508	.	0.699658	0.14725	N	0.302133	T	0.64713	0.2623	L	0.48362	1.52	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.51795	-0.8660	10	0.33141	T	0.24	.	8.1976	0.31407	0.0:0.2877:0.0:0.7123	.	1888	Q38SD2	LRRK1_HUMAN	P	1888;1885;579;442	ENSP00000373600:S1888P;ENSP00000284395:S1885P	ENSP00000284395:S1885P	S	+	1	0	LRRK1	99423827	0.001000	0.12720	0.008000	0.14137	0.369000	0.29798	0.437000	0.21543	0.319000	0.23209	0.533000	0.62120	TCC	.	.		0.617	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	NM_024652	
CHSY1	22856	hgsc.bcm.edu	37	15	101717856	101717856	+	Missense_Mutation	SNP	A	A	G			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr15:101717856A>G	ENST00000254190.3	-	3	2621	c.2146T>C	c.(2146-2148)Tgg>Cgg	p.W716R	CHSY1_ENST00000543813.1_5'UTR	NM_014918.4	NP_055733.2	Q86X52	CHSS1_HUMAN	chondroitin sulfate synthase 1	716					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|negative regulation of ossification (GO:0030279)|response to nutrient levels (GO:0031667)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1)	24	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TCCAGCCCCCAGCCTTGGATG	0.498																																					p.W716R		Atlas-SNP	.											.	CHSY1	60	.	0			c.T2146C						.						102.0	104.0	103.0					15																	101717856		2203	4300	6503	SO:0001583	missense	22856	exon3			GCCCCCAGCCTTG	AB023207	CCDS10390.1	15q26.3	2013-02-19	2008-01-24	2008-01-24	ENSG00000131873	ENSG00000131873	2.4.1.175, 2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	17198	protein-coding gene	gene with protein product		608183	"""carbohydrate (chondroitin) synthase 1"""			11514575	Standard	NM_014918		Approved	KIAA0990, CSS1	uc021sxt.1	Q86X52	OTTHUMG00000149873	ENST00000254190.3:c.2146T>C	chr15.hg19:g.101717856A>G	ENSP00000254190:p.Trp716Arg	106.0	0.0		88.0	4.0	NM_014918	Q6UX38|Q7LFU5|Q9Y2J5	Missense_Mutation	SNP	ENST00000254190.3	hg19	CCDS10390.1	.	.	.	.	.	.	.	.	.	.	A	19.38	3.815849	0.70912	.	.	ENSG00000131873	ENST00000254190;ENST00000543813	T	0.40476	1.03	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.71643	0.3364	M	0.91354	3.2	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.75816	-0.3184	10	0.39692	T	0.17	-32.6771	16.2588	0.82530	1.0:0.0:0.0:0.0	.	716	Q86X52	CHSS1_HUMAN	R	716;444	ENSP00000254190:W716R	ENSP00000254190:W716R	W	-	1	0	CHSY1	99535379	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.107000	0.94261	2.243000	0.73865	0.459000	0.35465	TGG	.	.		0.498	CHSY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313624.1	NM_014918	
TARSL2	123283	hgsc.bcm.edu	37	15	102224289	102224289	+	Missense_Mutation	SNP	T	T	A			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr15:102224289T>A	ENST00000335968.3	-	12	1855	c.1639A>T	c.(1639-1641)Aca>Tca	p.T547S	snoU13_ENST00000458877.1_RNA	NM_152334.2	NP_689547.2	A2RTX5	SYTC2_HUMAN	threonyl-tRNA synthetase-like 2	547					threonyl-tRNA aminoacylation (GO:0006435)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|threonine-tRNA ligase activity (GO:0004829)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TGCTCCACTGTGCAAAAAATG	0.473																																					p.T547S		Atlas-SNP	.											.	TARSL2	63	.	0			c.A1639T						.						97.0	81.0	87.0					15																	102224289		2203	4300	6503	SO:0001583	missense	123283	exon12			CCACTGTGCAAAA	AL833188	CCDS10394.1	15q26.3	2008-02-05			ENSG00000185418	ENSG00000185418			24728	protein-coding gene	gene with protein product							Standard	NM_152334		Approved	FLJ25005	uc002bxm.3	A2RTX5	OTTHUMG00000149869	ENST00000335968.3:c.1639A>T	chr15.hg19:g.102224289T>A	ENSP00000338093:p.Thr547Ser	154.0	0.0		153.0	43.0	NM_152334	B2RMP7|Q6B0A1|Q6IS76|Q96LW3|Q96MP4	Missense_Mutation	SNP	ENST00000335968.3	hg19	CCDS10394.1	.	.	.	.	.	.	.	.	.	.	T	15.70	2.911377	0.52439	.	.	ENSG00000185418	ENST00000335968;ENST00000333018;ENST00000539112	T;T	0.68025	-0.3;-0.3	5.46	5.46	0.80206	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (G/ H/ P/ S), conserved domain (1);	0.280684	0.39274	N	0.001410	T	0.66597	0.2805	M	0.76433	2.335	0.36599	D	0.874548	B;B	0.24092	0.002;0.097	B;B	0.22880	0.042;0.028	T	0.70252	-0.4923	10	0.42905	T	0.14	-5.2204	13.4859	0.61366	0.0:0.0:0.0:1.0	.	547;452	A2RTX5;A2RTX5-2	SYTC2_HUMAN;.	S	547;452;547	ENSP00000338093:T547S;ENSP00000439899:T547S	ENSP00000329291:T452S	T	-	1	0	TARSL2	100041812	1.000000	0.71417	0.995000	0.50966	0.996000	0.88848	2.050000	0.41297	2.079000	0.62486	0.482000	0.46254	ACA	.	.		0.473	TARSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313619.3	NM_152334	
SSTR5	6755	hgsc.bcm.edu	37	16	1129760	1129760	+	Missense_Mutation	SNP	T	T	C			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr16:1129760T>C	ENST00000293897.4	+	1	980	c.892T>C	c.(892-894)Tgt>Cgt	p.C298R	SSTR5_ENST00000397547.2_Missense_Mutation_p.C298R|SSTR5-AS1_ENST00000569832.1_RNA|SSTR5_ENST00000562758.1_Intron	NM_001053.3	NP_001044.1	P35346	SSR5_HUMAN	somatostatin receptor 5	298					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cytokinesis (GO:0032467)|regulation of insulin secretion (GO:0050796)|somatostatin signaling pathway (GO:0038170)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			endometrium(2)|lung(5)|prostate(1)|skin(1)	9		Hepatocellular(780;0.00369)			Octreotide(DB00104)|Pasireotide(DB06663)|Vapreotide(DB04894)	CGCCAACAGCTGTGCCAACCC	0.627																																					p.C298R		Atlas-SNP	.											.	SSTR5	36	.	0			c.T892C						.						90.0	89.0	89.0					16																	1129760		2197	4295	6492	SO:0001583	missense	6755	exon2			AACAGCTGTGCCA	D16827	CCDS10429.1	16p13.3	2012-08-08			ENSG00000162009	ENSG00000162009		"""GPCR / Class A : Somatostatin receptors"""	11334	protein-coding gene	gene with protein product		182455				7607700	Standard	NM_001053		Approved		uc021taf.1	P35346	OTTHUMG00000047842	ENST00000293897.4:c.892T>C	chr16.hg19:g.1129760T>C	ENSP00000293897:p.Cys298Arg	90.0	0.0		110.0	6.0	NM_001172560	P34988|Q541E0|Q9UJI5	Missense_Mutation	SNP	ENST00000293897.4	hg19	CCDS10429.1	.	.	.	.	.	.	.	.	.	.	T	14.59	2.582252	0.46006	.	.	ENSG00000162009	ENST00000397547;ENST00000293897	T;T	0.42131	0.98;0.98	4.76	4.76	0.60689	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.78648	0.4316	H	0.99347	4.525	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87274	0.2288	10	0.87932	D	0	.	13.4447	0.61134	0.0:0.0:0.0:1.0	.	298	P35346	SSR5_HUMAN	R	298	ENSP00000380680:C298R;ENSP00000293897:C298R	ENSP00000293897:C298R	C	+	1	0	SSTR5	1069761	1.000000	0.71417	0.994000	0.49952	0.068000	0.16541	7.813000	0.86123	1.786000	0.52430	0.459000	0.35465	TGT	.	.		0.627	SSTR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420836.1		
MEIOB	254528	hgsc.bcm.edu	37	16	1884295	1884295	+	Missense_Mutation	SNP	C	C	T			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr16:1884295C>T	ENST00000397344.3	-	13	1485	c.1291G>A	c.(1291-1293)Gag>Aag	p.E431K	FAHD1_ENST00000382668.4_Intron|MEIOB_ENST00000325962.3_Missense_Mutation_p.E460K|MEIOB_ENST00000412554.2_Missense_Mutation_p.E460K|FAHD1_ENST00000382666.4_Intron|MEIOB_ENST00000452149.2_Missense_Mutation_p.E431K|MEIOB_ENST00000470044.1_Missense_Mutation_p.E253K	NM_152764.2	NP_689977.2	Q8N635	MEIOB_HUMAN	meiosis specific with OB domains	431					double-strand break repair via homologous recombination (GO:0000724)|female meiosis I (GO:0007144)|fertilization (GO:0009566)|male meiosis (GO:0007140)|male meiosis I (GO:0007141)|resolution of meiotic recombination intermediates (GO:0000712)|synapsis (GO:0007129)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|single-stranded DNA 3'-5' exodeoxyribonuclease activity (GO:0008310)|single-stranded DNA binding (GO:0003697)										CTGCTTGCCTCAGTAGGATCT	0.383																																					p.E460K		Atlas-SNP	.											.	.	.	.	0			c.G1378A						.						103.0	98.0	100.0					16																	1884295		2199	4300	6499	SO:0001583	missense	254528	exon14			TTGCCTCAGTAGG	BC029829	CCDS10449.2, CCDS53983.1	16p13.3	2012-08-13	2012-08-13	2012-08-13	ENSG00000162039	ENSG00000162039			28569	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 73"""	C16orf73		12477932	Standard	NM_152764		Approved	MGC35212	uc010uvq.1	Q8N635	OTTHUMG00000128683	ENST00000397344.3:c.1291G>A	chr16.hg19:g.1884295C>T	ENSP00000380504:p.Glu431Lys	102.0	0.0		84.0	4.0	NM_001163560	B1AK39|C9J0S1|Q96RY0	Missense_Mutation	SNP	ENST00000397344.3	hg19	CCDS10449.2	.	.	.	.	.	.	.	.	.	.	C	18.16	3.561340	0.65538	.	.	ENSG00000162039	ENST00000412554;ENST00000452149;ENST00000325962;ENST00000397344	T;T;T;T	0.10860	2.83;2.83;2.83;2.83	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.33411	0.0862	M	0.70595	2.14	0.45607	D	0.998541	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.00534	-1.1684	10	0.42905	T	0.14	.	17.0244	0.86441	0.0:1.0:0.0:0.0	.	460;431	C9J0S1;Q8N635	.;CP073_HUMAN	K	460;431;460;431	ENSP00000390778:E460K;ENSP00000391033:E431K;ENSP00000314484:E460K;ENSP00000380504:E431K	ENSP00000314484:E460K	E	-	1	0	C16orf73	1824296	0.997000	0.39634	0.946000	0.38457	0.071000	0.16799	4.624000	0.61254	2.715000	0.92844	0.585000	0.79938	GAG	.	.		0.383	MEIOB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250580.1	NM_152764	
EMP2	2013	hgsc.bcm.edu	37	16	10626827	10626827	+	Missense_Mutation	SNP	A	A	G			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr16:10626827A>G	ENST00000359543.3	-	5	648	c.439T>C	c.(439-441)Tgg>Cgg	p.W147R	EMP2_ENST00000536829.1_Missense_Mutation_p.W147R|EMP2_ENST00000566033.1_5'Flank|RP11-27M24.1_ENST00000535363.1_RNA	NM_001424.4	NP_001415.1	P54851	EMP2_HUMAN	epithelial membrane protein 2	147					cell proliferation (GO:0008283)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|regulation of glomerular filtration (GO:0003093)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	integrin binding (GO:0005178)			NS(1)|endometrium(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6						AAGGCCACCCACGCCAGGATG	0.527																																					p.W147R	GBM(158;2021 2691 14714 39478)	Atlas-SNP	.											.	EMP2	21	.	0			c.T439C						.						144.0	114.0	124.0					16																	10626827		2197	4300	6497	SO:0001583	missense	2013	exon5			CCACCCACGCCAG	U52100	CCDS10541.1	16p13.2	2008-08-01			ENSG00000213853	ENSG00000213853			3334	protein-coding gene	gene with protein product		602334				8996089, 10331954, 16216233	Standard	NM_001424		Approved	XMP	uc002czx.3	P54851	OTTHUMG00000129752	ENST00000359543.3:c.439T>C	chr16.hg19:g.10626827A>G	ENSP00000352540:p.Trp147Arg	60.0	0.0		69.0	4.0	NM_001424	B2R7V6|D3DUF8	Missense_Mutation	SNP	ENST00000359543.3	hg19	CCDS10541.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.294020	0.81025	.	.	ENSG00000213853	ENST00000359543;ENST00000536829	D;D	0.93426	-3.22;-3.22	5.37	4.27	0.50696	.	0.000000	0.85682	U	0.000000	D	0.96725	0.8931	M	0.89214	3.015	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.96464	0.9343	10	0.66056	D	0.02	-8.3053	11.2492	0.49015	0.8631:0.0:0.0:0.1369	.	147	P54851	EMP2_HUMAN	R	147	ENSP00000352540:W147R;ENSP00000445712:W147R	ENSP00000352540:W147R	W	-	1	0	EMP2	10534328	1.000000	0.71417	0.993000	0.49108	0.963000	0.63663	8.779000	0.91792	0.968000	0.38212	0.533000	0.62120	TGG	.	.		0.527	EMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251965.1	NM_001424	
TEKT5	146279	hgsc.bcm.edu	37	16	10783830	10783830	+	Missense_Mutation	SNP	A	A	G			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr16:10783830A>G	ENST00000283025.2	-	2	688	c.617T>C	c.(616-618)gTc>gCc	p.V206A	RP11-109M19.1_ENST00000576710.1_RNA	NM_144674.1	NP_653275.1	Q96M29	TEKT5_HUMAN	tektin 5	206						cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						GTTGTCATGGACCAAATCAAT	0.517																																					p.V206A		Atlas-SNP	.											.	TEKT5	66	.	0			c.T617C						.						114.0	97.0	103.0					16																	10783830		2197	4300	6497	SO:0001583	missense	146279	exon2			TCATGGACCAAAT		CCDS10542.1	16p13.13	2014-01-21			ENSG00000153060	ENSG00000153060			26554	protein-coding gene	gene with protein product							Standard	NM_144674		Approved	FLJ32871, CT149	uc002czz.1	Q96M29	OTTHUMG00000129750	ENST00000283025.2:c.617T>C	chr16.hg19:g.10783830A>G	ENSP00000283025:p.Val206Ala	101.0	0.0		98.0	4.0	NM_144674	A1L3Z3	Missense_Mutation	SNP	ENST00000283025.2	hg19	CCDS10542.1	.	.	.	.	.	.	.	.	.	.	A	24.6	4.553462	0.86127	.	.	ENSG00000153060	ENST00000283025	T	0.05139	3.49	5.22	5.22	0.72569	.	0.000000	0.56097	D	0.000033	T	0.30978	0.0782	M	0.90082	3.085	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.20107	-1.0285	10	0.87932	D	0	-51.5563	13.3635	0.60669	1.0:0.0:0.0:0.0	.	206	Q96M29	TEKT5_HUMAN	A	206	ENSP00000283025:V206A	ENSP00000283025:V206A	V	-	2	0	TEKT5	10691331	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	8.622000	0.90953	2.088000	0.63022	0.533000	0.62120	GTC	.	.		0.517	TEKT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251963.1	NM_144674	
DCUN1D3	123879	hgsc.bcm.edu	37	16	20871607	20871607	+	Missense_Mutation	SNP	T	T	A			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr16:20871607T>A	ENST00000324344.4	-	3	801	c.516A>T	c.(514-516)gaA>gaT	p.E172D	ERI2_ENST00000564349.1_Intron|DCUN1D3_ENST00000563934.1_Missense_Mutation_p.E172D	NM_173475.2	NP_775746.1	Q8IWE4	DCNL3_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 3	172	DCUN1. {ECO:0000255|PROSITE- ProRule:PRU00574}.				negative regulation of cell growth (GO:0030308)|positive regulation of apoptotic process (GO:0043065)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)	perinuclear region of cytoplasm (GO:0048471)				NS(2)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)	14				GBM - Glioblastoma multiforme(48;0.249)		CTTGTTTGGCTTCTGTTAAGA	0.468																																					p.E172D		Atlas-SNP	.											.	DCUN1D3	29	.	0			c.A516T						.						98.0	99.0	99.0					16																	20871607		2201	4300	6501	SO:0001583	missense	123879	exon3			TTTGGCTTCTGTT	BC040442	CCDS10592.1	16p12.3	2013-06-10	2013-06-10		ENSG00000188215	ENSG00000188215			28734	protein-coding gene	gene with protein product			"""DCN1, defective in cullin neddylation 1, domain containing 3 (S. cerevisiae)"""			15988528	Standard	NM_173475		Approved	MGC48972, FLJ41725, DKFZp686O0290	uc002dhz.3	Q8IWE4	OTTHUMG00000131553	ENST00000324344.4:c.516A>T	chr16.hg19:g.20871607T>A	ENSP00000319482:p.Glu172Asp	71.0	0.0		79.0	4.0	NM_173475	B3KVY4	Missense_Mutation	SNP	ENST00000324344.4	hg19	CCDS10592.1	.	.	.	.	.	.	.	.	.	.	T	13.44	2.237801	0.39598	.	.	ENSG00000188215	ENST00000324344	.	.	.	5.92	5.92	0.95590	Domain of unknown function DUF298 (2);	0.089651	0.85682	D	0.000000	T	0.53594	0.1806	L	0.41079	1.255	0.47621	D	0.999479	B	0.22480	0.07	B	0.24974	0.057	T	0.49485	-0.8935	9	0.29301	T	0.29	-19.5782	12.8313	0.57748	0.0:0.0:0.136:0.864	.	172	Q8IWE4	DCNL3_HUMAN	D	172	.	ENSP00000319482:E172D	E	-	3	2	DCUN1D3	20779108	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.274000	0.51631	2.274000	0.75844	0.533000	0.62120	GAA	.	.		0.468	DCUN1D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254415.2	NM_173475	
TAOK2	9344	hgsc.bcm.edu	37	16	29998852	29998852	+	Missense_Mutation	SNP	C	C	T			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr16:29998852C>T	ENST00000308893.4	+	16	4302	c.3259C>T	c.(3259-3261)Cgg>Tgg	p.R1087W	TAOK2_ENST00000416441.2_Missense_Mutation_p.R914W|TAOK2_ENST00000543033.1_Missense_Mutation_p.R974W|TAOK2_ENST00000279394.3_Intron	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	1087					actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|focal adhesion assembly (GO:0048041)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein targeting to membrane (GO:0006612)|regulation of cell growth (GO:0001558)|regulation of cell shape (GO:0008360)|response to stress (GO:0006950)|stress-activated MAPK cascade (GO:0051403)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase binding (GO:0031434)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						ACTCTGGTTGCGGGTTCTGCT	0.677																																					p.R1087W		Atlas-SNP	.											.	TAOK2	142	.	0			c.C3259T						.						41.0	51.0	48.0					16																	29998852		2196	4299	6495	SO:0001583	missense	9344	exon16			TGGTTGCGGGTTC	AB020688	CCDS10662.1, CCDS10663.1, CCDS58448.1	16p11.2	2008-02-05			ENSG00000149930	ENSG00000149930			16835	protein-coding gene	gene with protein product		613199				10048485, 9786855	Standard	NM_016151		Approved	TAO1, KIAA0881, PSK, PSK1, TAO2, MAP3K17	uc002dva.2	Q9UL54	OTTHUMG00000132111	ENST00000308893.4:c.3259C>T	chr16.hg19:g.29998852C>T	ENSP00000310094:p.Arg1087Trp	76.0	0.0		73.0	31.0	NM_016151	A5PKY1|A7MCZ2|B2RN35|B7ZM88|O94957|Q6UW73|Q7LC09|Q9NSW2	Missense_Mutation	SNP	ENST00000308893.4	hg19	CCDS10663.1	.	.	.	.	.	.	.	.	.	.	C	11.98	1.799342	0.31869	.	.	ENSG00000149930	ENST00000308893;ENST00000543033	T;T	0.75154	-0.86;-0.91	4.8	1.65	0.23941	.	0.342835	0.21289	N	0.077017	T	0.52773	0.1755	N	0.19112	0.55	0.32969	D	0.522131	B;B;B	0.22983	0.002;0.078;0.002	B;B;B	0.18871	0.001;0.023;0.001	T	0.48969	-0.8987	9	.	.	.	.	6.6163	0.22778	0.3142:0.6002:0.0:0.0856	.	1278;914;1087	Q86V37;Q9UL54-3;Q9UL54	.;.;TAOK2_HUMAN	W	1087;974	ENSP00000310094:R1087W;ENSP00000440336:R974W	.	R	+	1	2	TAOK2	29906353	1.000000	0.71417	1.000000	0.80357	0.824000	0.46624	1.055000	0.30467	0.208000	0.20626	0.563000	0.77884	CGG	.	.		0.677	TAOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255152.2	NM_016151	
PHKB	5257	hgsc.bcm.edu	37	16	47695696	47695696	+	Missense_Mutation	SNP	T	T	C			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr16:47695696T>C	ENST00000323584.5	+	23	2287	c.2263T>C	c.(2263-2265)Ttc>Ctc	p.F755L	PHKB_ENST00000566044.1_Missense_Mutation_p.F748L|PHKB_ENST00000299167.8_Missense_Mutation_p.F755L|PHKB_ENST00000455779.1_Missense_Mutation_p.F748L	NM_000293.2	NP_000284.1	Q93100	KPBB_HUMAN	phosphorylase kinase, beta	755					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)				AGGCCCCAACTTCATCACAAA	0.423																																					p.F755L		Atlas-SNP	.											.	PHKB	298	.	0			c.T2263C						.						113.0	108.0	109.0					16																	47695696		2201	4300	6501	SO:0001583	missense	5257	exon23			CCCAACTTCATCA		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.2263T>C	chr16.hg19:g.47695696T>C	ENSP00000313504:p.Phe755Leu	95.0	0.0		82.0	4.0	NM_000293	Q8N4T5	Missense_Mutation	SNP	ENST00000323584.5	hg19	CCDS10729.1	.	.	.	.	.	.	.	.	.	.	T	29.1	4.974914	0.92919	.	.	ENSG00000102893	ENST00000299167;ENST00000455779;ENST00000323584	D;D	0.91011	-2.76;-2.77	6.07	6.07	0.98685	Glycoside hydrolase 15-related (1);	0.097902	0.64402	D	0.000001	D	0.93278	0.7858	M	0.61703	1.905	0.80722	D	1	P;D	0.65815	0.568;0.995	P;P	0.58721	0.627;0.844	D	0.92362	0.5898	10	0.36615	T	0.2	-22.3124	16.6407	0.85098	0.0:0.0:0.0:1.0	.	755;748	Q93100;Q93100-4	KPBB_HUMAN;.	L	748;748;755	ENSP00000414345:F748L;ENSP00000313504:F755L	ENSP00000299167:F748L	F	+	1	0	PHKB	46253197	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.862000	0.69560	2.326000	0.78906	0.533000	0.62120	TTC	.	.		0.423	PHKB-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000430413.1		
ABCC12	94160	hgsc.bcm.edu	37	16	48120709	48120709	+	Silent	SNP	C	C	T			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr16:48120709C>T	ENST00000311303.3	-	26	4002	c.3657G>A	c.(3655-3657)gaG>gaA	p.E1219E	ABCC12_ENST00000532355.1_5'Flank|ABCC12_ENST00000448542.1_3'UTR|ABCC12_ENST00000416054.1_3'UTR	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	1219	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.					integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				CGGTGTGACTCTCAAAGGGAT	0.522																																					p.E1219E		Atlas-SNP	.											.	ABCC12	190	.	0			c.G3657A						.						193.0	193.0	193.0					16																	48120709		2201	4300	6501	SO:0001819	synonymous_variant	94160	exon26			GTGACTCTCAAAG	AY040220	CCDS10730.1	16q12.1	2012-03-14			ENSG00000140798	ENSG00000140798		"""ATP binding cassette transporters / subfamily C"""	14640	protein-coding gene	gene with protein product		607041				11435397, 11483364	Standard	NM_033226		Approved	MRP9	uc002efc.1	Q96J65	OTTHUMG00000133143	ENST00000311303.3:c.3657G>A	chr16.hg19:g.48120709C>T		73.0	0.0		92.0	4.0	NM_033226	Q49AL2|Q8TAF0|Q8TEY2	Silent	SNP	ENST00000311303.3	hg19	CCDS10730.1																																																																																			.	.		0.522	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256837.1	NM_033226	
CHD9	80205	hgsc.bcm.edu	37	16	53338416	53338416	+	Silent	SNP	T	T	A			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr16:53338416T>A	ENST00000398510.3	+	30	6585	c.6498T>A	c.(6496-6498)tcT>tcA	p.S2166S	CHD9_ENST00000447540.1_Silent_p.S2166S|CHD9_ENST00000566029.1_Silent_p.S2166S|CHD9_ENST00000564845.1_Silent_p.S2166S			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	2166	Ser-rich.				cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				CTAGttcttcttcatcttcat	0.443																																					p.S2166S		Atlas-SNP	.											.	CHD9	203	.	0			c.T6498A						.						150.0	141.0	144.0					16																	53338416		2098	4200	6298	SO:0001819	synonymous_variant	80205	exon31			TTCTTCTTCATCT	AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.6498T>A	chr16.hg19:g.53338416T>A		271.0	0.0		302.0	21.0	NM_025134	B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Silent	SNP	ENST00000398510.3	hg19																																																																																				.	.		0.443	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	NM_025134	
CHD9	80205	hgsc.bcm.edu	37	16	53338419	53338419	+	Silent	SNP	A	A	T			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr16:53338419A>T	ENST00000398510.3	+	30	6588	c.6501A>T	c.(6499-6501)tcA>tcT	p.S2167S	CHD9_ENST00000447540.1_Silent_p.S2167S|CHD9_ENST00000566029.1_Silent_p.S2167S|CHD9_ENST00000564845.1_Silent_p.S2167S			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	2167	Ser-rich.				cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				Gttcttcttcatcttcatctt	0.448																																					p.S2167S		Atlas-SNP	.											.	CHD9	203	.	0			c.A6501T						.						153.0	142.0	146.0					16																	53338419		2096	4201	6297	SO:0001819	synonymous_variant	80205	exon31			TTCTTCATCTTCA	AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.6501A>T	chr16.hg19:g.53338419A>T		275.0	0.0		292.0	14.0	NM_025134	B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Silent	SNP	ENST00000398510.3	hg19																																																																																				.	.		0.448	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	NM_025134	
RBL2	5934	hgsc.bcm.edu	37	16	53513887	53513887	+	Silent	SNP	A	A	G			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr16:53513887A>G	ENST00000262133.6	+	19	3002	c.2865A>G	c.(2863-2865)gaA>gaG	p.E955E	RBL2_ENST00000544545.1_Intron|RBL2_ENST00000379935.4_3'UTR	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2	955	Domain B.|Pocket; binds E1A.				chromatin modification (GO:0016568)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CTCCAACAGAACTAAACAAAG	0.343																																					p.E955E		Atlas-SNP	.											.	RBL2	115	.	0			c.A2865G						.						64.0	67.0	66.0					16																	53513887		2198	4300	6498	SO:0001819	synonymous_variant	5934	exon19			AACAGAACTAAAC	X74594	CCDS10748.1	16q12.2	2014-03-11	2014-03-11		ENSG00000103479	ENSG00000103479			9894	protein-coding gene	gene with protein product		180203				8361765, 8643454	Standard	NM_005611		Approved	Rb2, p130	uc002ehi.4	Q08999	OTTHUMG00000133198	ENST00000262133.6:c.2865A>G	chr16.hg19:g.53513887A>G		129.0	0.0		95.0	4.0	NM_005611	B7Z913|Q15073|Q16084|Q8NE70|Q92812	Silent	SNP	ENST00000262133.6	hg19	CCDS10748.1																																																																																			.	.		0.343	RBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256908.3	NM_005611	
NQO1	1728	hgsc.bcm.edu	37	16	69748881	69748881	+	Missense_Mutation	SNP	T	T	C			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr16:69748881T>C	ENST00000320623.5	-	4	914	c.403A>G	c.(403-405)Aaa>Gaa	p.K135E	NQO1_ENST00000561500.1_Intron|NQO1_ENST00000564043.1_Missense_Mutation_p.K114E|NQO1_ENST00000379046.2_Intron|NQO1_ENST00000379047.3_Missense_Mutation_p.K135E|NQO1_ENST00000439109.2_Intron	NM_000903.2	NP_000894.1	P15559	NQO1_HUMAN	NAD(P)H dehydrogenase, quinone 1	135					aging (GO:0007568)|cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of catalytic activity (GO:0043086)|nitric oxide biosynthetic process (GO:0006809)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cellular amino acid metabolic process (GO:0006521)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|synaptic transmission, cholinergic (GO:0007271)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)|NAD(P)H dehydrogenase (quinone) activity (GO:0003955)|poly(A) RNA binding (GO:0044822)|superoxide dismutase activity (GO:0004784)			autonomic_ganglia(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	10					Carboplatin(DB00958)|Cisplatin(DB00515)|Dicoumarol(DB00266)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|Menadione(DB00170)|Oxaliplatin(DB00526)|Vitamin E(DB00163)	AAGGGTCCTTTGTCATACATG	0.507																																					p.K135E		Atlas-SNP	.											.	NQO1	21	.	0			c.A403G						.						225.0	204.0	211.0					16																	69748881		2198	4300	6498	SO:0001583	missense	1728	exon4			GTCCTTTGTCATA	M81600	CCDS10883.1, CCDS32471.1, CCDS32472.1, CCDS67067.1	16q12-q22	2012-10-02	2001-11-30	2001-12-07	ENSG00000181019	ENSG00000181019	1.6.5.2		2874	protein-coding gene	gene with protein product		125860	"""diaphorase (NADH/NADPH) (cytochrome b-5 reductase)"""	NMOR1, DIA4		2843525	Standard	NM_001286137		Approved	DHQU, QR1, DTD	uc002exp.3	P15559	OTTHUMG00000137575	ENST00000320623.5:c.403A>G	chr16.hg19:g.69748881T>C	ENSP00000319788:p.Lys135Glu	89.0	0.0		115.0	5.0	NM_000903	B2R5Y9|B4DNM7|B7ZAD1|Q86UK1	Missense_Mutation	SNP	ENST00000320623.5	hg19	CCDS10883.1	.	.	.	.	.	.	.	.	.	.	T	9.723	1.160176	0.21454	.	.	ENSG00000181019	ENST00000320623;ENST00000379047	T;T	0.09445	2.98;3.17	6.03	4.94	0.65067	Flavodoxin-like fold (1);	0.462649	0.26421	N	0.024476	T	0.05686	0.0149	N	0.11818	0.18	0.25895	N	0.983429	B;B	0.14805	0.011;0.0	B;B	0.15870	0.014;0.002	T	0.39035	-0.9633	9	.	.	.	-5.147	7.6144	0.28150	0.0:0.0737:0.1414:0.7849	.	135;135	B7ZAD1;P15559	.;NQO1_HUMAN	E	135	ENSP00000319788:K135E;ENSP00000368335:K135E	.	K	-	1	0	NQO1	68306382	0.850000	0.29656	0.990000	0.47175	0.632000	0.37999	0.080000	0.14802	1.112000	0.41740	0.454000	0.30748	AAA	.	.		0.507	NQO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268956.2		
CENPN	55839	hgsc.bcm.edu	37	16	81066238	81066238	+	Missense_Mutation	SNP	A	A	G			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr16:81066238A>G	ENST00000393335.3	+	11	1075	c.1001A>G	c.(1000-1002)gAc>gGc	p.D334G	RP11-303E16.3_ENST00000561808.1_RNA|RP11-303E16.2_ENST00000566639.1_RNA|RP11-303E16.3_ENST00000566390.1_RNA	NM_001100625.2	NP_001094095.2	Q96H22	CENPN_HUMAN	centromere protein N	0					CENP-A containing nucleosome assembly (GO:0034080)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|large_intestine(5)|lung(4)	10						gggacccaggacccgagcagc	0.393																																					p.D334G		Atlas-SNP	.											.	CENPN	84	.	0			c.A1001G						.						64.0	67.0	66.0					16																	81066238		1862	4102	5964	SO:0001583	missense	55839	exon11			CCCAGGACCCGAG	AK026313	CCDS10931.1, CCDS42199.1, CCDS42200.1, CCDS58482.1, CCDS58483.1	16q23.2	2013-11-05	2006-06-15	2006-06-15	ENSG00000166451	ENSG00000166451			30873	protein-coding gene	gene with protein product		611509	"""chromosome 16 open reading frame 60"""	C16orf60		16622419	Standard	NM_001100625		Approved	FLJ13607, FLJ22660, BM039	uc002ffy.4	Q96H22	OTTHUMG00000137628	ENST00000393335.3:c.1001A>G	chr16.hg19:g.81066238A>G	ENSP00000377007:p.Asp334Gly	75.0	0.0		59.0	4.0	NM_001100625	A8MZE6|B3KN53|B4DJD1|B4DPY7|C9JJM5|D3DUK8|E7ES30|E7ETS3|Q9NZ83	Missense_Mutation	SNP	ENST00000393335.3	hg19	CCDS42199.1	.	.	.	.	.	.	.	.	.	.	A	7.598	0.672171	0.14776	.	.	ENSG00000166451	ENST00000393335	T	0.27256	1.68	0.559	-1.12	0.09808	.	.	.	.	.	T	0.10551	0.0258	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.24225	-1.0166	8	0.87932	D	0	.	.	.	.	.	334	A8MZE6	.	G	334	ENSP00000377007:D334G	ENSP00000377007:D334G	D	+	2	0	CENPN	79623739	0.022000	0.18835	0.002000	0.10522	0.002000	0.02628	-0.277000	0.08502	-1.216000	0.02607	-1.235000	0.01560	GAC	.	.		0.393	CENPN-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000269052.1	NM_018455	
PKD1L2	114780	hgsc.bcm.edu	37	16	81236287	81236287	+	RNA	SNP	A	A	G			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr16:81236287A>G	ENST00000525539.1	-	0	960				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						CATTCAGCAAACACGGTGAAT	0.552																																					p.F321L		Atlas-SNP	.											.	PKD1L2	361	.	0			c.T961C						.						58.0	62.0	60.0					16																	81236287		2182	4279	6461			114780	exon6			CAGCAAACACGGT	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.81236287A>G		85.0	0.0		89.0	4.0	NM_001076780	Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Missense_Mutation	SNP	ENST00000525539.1	hg19		.	.	.	.	.	.	.	.	.	.	A	19.61	3.860740	0.71834	.	.	ENSG00000166473	ENST00000337114	D	0.90444	-2.67	4.74	3.64	0.41730	.	0.328291	0.29900	N	0.010908	D	0.94275	0.8161	.	.	.	0.22851	N	0.998657	D;D	0.76494	0.999;0.983	D;P	0.75484	0.986;0.746	D	0.87774	0.2607	9	0.87932	D	0	-5.9811	10.4851	0.44717	0.9227:0.0:0.0773:0.0	.	321;321	Q7Z442-3;Q7Z442	.;PK1L2_HUMAN	L	321	ENSP00000337397:F321L	ENSP00000337397:F321L	F	-	1	0	PKD1L2	79793788	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	2.072000	0.41510	0.771000	0.33359	0.533000	0.62120	TTT	.	.		0.552	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000387972.2		
CDH13	1012	hgsc.bcm.edu	37	16	83378493	83378493	+	Silent	SNP	T	T	C			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr16:83378493T>C	ENST00000566620.1	+	6	953	c.663T>C	c.(661-663)aaT>aaC	p.N221N	CDH13_ENST00000428848.3_Silent_p.N182N|CDH13_ENST00000268613.10_Silent_p.N268N|CDH13_ENST00000569454.1_3'UTR	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	221	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|endothelial cell migration (GO:0043542)|homophilic cell adhesion (GO:0007156)|keratinocyte proliferation (GO:0043616)|lamellipodium assembly (GO:0030032)|localization within membrane (GO:0051668)|low-density lipoprotein particle mediated signaling (GO:0055096)|mitotic cell cycle (GO:0000278)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell proliferation (GO:0008285)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Rac protein signal transduction (GO:0016601)|regulation of cell growth (GO:0001558)|regulation of endocytosis (GO:0030100)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|Rho protein signal transduction (GO:0007266)|sprouting angiogenesis (GO:0002040)	anchored component of membrane (GO:0031225)|caveola (GO:0005901)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	adiponectin binding (GO:0055100)|cadherin binding (GO:0045296)|calcium ion binding (GO:0005509)|lipoprotein particle binding (GO:0071813)|low-density lipoprotein particle binding (GO:0030169)			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		CTGATGTCAATGGCAAAACTC	0.448																																					p.N268N		Atlas-SNP	.											.	CDH13	97	.	0			c.T804C						.						79.0	81.0	81.0					16																	83378493		1855	4087	5942	SO:0001819	synonymous_variant	1012	exon7			TGTCAATGGCAAA	U59288	CCDS56009.1, CCDS56010.1, CCDS58485.1, CCDS58486.1, CCDS58487.1	16q23.3	2013-08-27	2013-08-27			ENSG00000140945		"""Cadherins / Major cadherins"""	1753	protein-coding gene	gene with protein product	"""T-cadherin"", ""H-cadherin (heart)"""	601364				8673923, 9468307	Standard	NM_001257		Approved	CDHH	uc010vns.2	P55290		ENST00000566620.1:c.663T>C	chr16.hg19:g.83378493T>C		111.0	0.0		99.0	4.0	NM_001220488	A8W476|A8W477|B7Z590|C9JRI6|J3KN62|Q6GTW4|Q8TBX3	Silent	SNP	ENST00000566620.1	hg19	CCDS58486.1																																																																																			.	.		0.448	CDH13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432917.1	NM_001257	
ZNF778	197320	hgsc.bcm.edu	37	16	89293512	89293512	+	Silent	SNP	T	T	C	rs376986456		TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr16:89293512T>C	ENST00000433976.2	+	6	1064	c.732T>C	c.(730-732)gtT>gtC	p.V244V	RP11-46C24.6_ENST00000563182.1_RNA|ZNF778_ENST00000306502.6_Silent_p.V202V	NM_001201407.1|NM_182531.3	NP_001188336.1|NP_872337.2	Q96MU6	ZN778_HUMAN	zinc finger protein 778	244					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(4)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|skin(2)	24				BRCA - Breast invasive adenocarcinoma(80;0.0269)		CCACACCTGTTGAAATGCATG	0.552																																					p.V272V		Atlas-SNP	.											.	ZNF778	67	.	0			c.T816C						.						111.0	113.0	112.0					16																	89293512		2078	4206	6284	SO:0001819	synonymous_variant	197320	exon7			ACCTGTTGAAATG	AK056437	CCDS45550.1, CCDS73928.1	16q24.3	2014-09-17			ENSG00000170100	ENSG00000170100		"""Zinc fingers, C2H2-type"", ""-"""	26479	protein-coding gene	gene with protein product							Standard	NM_182531		Approved	FLJ31875	uc021tms.1	Q96MU6		ENST00000433976.2:c.732T>C	chr16.hg19:g.89293512T>C		90.0	0.0		81.0	4.0	NM_001201407	Q08AG0	Silent	SNP	ENST00000433976.2	hg19	CCDS45550.1																																																																																			.	.		0.552	ZNF778-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430383.1	NM_182531	
SPG7	6687	hgsc.bcm.edu	37	16	89598432	89598432	+	Missense_Mutation	SNP	T	T	C			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr16:89598432T>C	ENST00000268704.2	+	8	1123	c.1108T>C	c.(1108-1110)Ttc>Ctc	p.F370L	RNU7-117P_ENST00000516770.1_RNA|SPG7_ENST00000341316.2_Missense_Mutation_p.F370L	NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)	370					anterograde axon cargo transport (GO:0008089)|cell death (GO:0008219)|mitochondrion organization (GO:0007005)|nervous system development (GO:0007399)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metalloendopeptidase activity (GO:0004222)|peptidase activity (GO:0008233)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		TCAGGTGCCCTTCCTGGCGAT	0.677																																					p.F370L		Atlas-SNP	.											.	SPG7	75	.	0			c.T1108C						.						55.0	51.0	52.0					16																	89598432		2198	4300	6498	SO:0001583	missense	6687	exon8			GTGCCCTTCCTGG	Y16610	CCDS10977.1, CCDS10978.1	16q24.3	2010-04-21	2007-04-23		ENSG00000197912	ENSG00000197912		"""ATPases / AAA-type"""	11237	protein-coding gene	gene with protein product	"""paraplegin"""	602783	"""cell matrix adhesion regulator"""	CMAR		9635427, 9634528	Standard	XM_006721264		Approved	CAR, SPG5C	uc002fnj.3	Q9UQ90	OTTHUMG00000138046	ENST00000268704.2:c.1108T>C	chr16.hg19:g.89598432T>C	ENSP00000268704:p.Phe370Leu	78.0	0.0		81.0	4.0	NM_199367	O75756|Q2TB70|Q58F00|Q96IB0	Missense_Mutation	SNP	ENST00000268704.2	hg19	CCDS10977.1	.	.	.	.	.	.	.	.	.	.	T	32	5.135457	0.94517	.	.	ENSG00000197912	ENST00000268704;ENST00000341316	D;D	0.93307	-3.2;-3.2	5.85	5.85	0.93711	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);Peptidase M41, FtsH (2);	0.043726	0.85682	N	0.000000	D	0.96466	0.8847	M	0.73430	2.235	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96930	0.9680	10	0.87932	D	0	.	16.2946	0.82763	0.0:0.0:0.0:1.0	.	370;370	Q9UQ90;Q9UQ90-2	SPG7_HUMAN;.	L	370	ENSP00000268704:F370L;ENSP00000341157:F370L	ENSP00000268704:F370L	F	+	1	0	SPG7	88125933	1.000000	0.71417	1.000000	0.80357	0.605000	0.37080	7.666000	0.83877	2.253000	0.74438	0.456000	0.33151	TTC	.	.		0.677	SPG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269921.2	NM_003119	
ASGR1	432	hgsc.bcm.edu	37	17	7077757	7077757	+	Silent	SNP	G	G	A			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr17:7077757G>A	ENST00000269299.3	-	6	777	c.378C>T	c.(376-378)caC>caT	p.H126H	ASGR1_ENST00000380920.4_Silent_p.H25H|ASGR1_ENST00000574388.1_Silent_p.H87H|ASGR1_ENST00000572879.1_De_novo_Start_OutOfFrame	NM_001197216.2|NM_001671.4	NP_001184145.1|NP_001662.1	P07306	ASGR1_HUMAN	asialoglycoprotein receptor 1	126					cellular response to extracellular stimulus (GO:0031668)|receptor-mediated endocytosis (GO:0006898)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	asialoglycoprotein receptor activity (GO:0004873)|carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|urinary_tract(1)	10						ACTGCTTCACGTGGAGCAGCA	0.667																																					p.H126H		Atlas-SNP	.											.	ASGR1	20	.	0			c.C378T						.						29.0	26.0	27.0					17																	7077757		2203	4300	6503	SO:0001819	synonymous_variant	432	exon6			CTTCACGTGGAGC		CCDS11089.1, CCDS56017.1	17p13-p11	2011-08-30			ENSG00000141505	ENSG00000141505		"""C-type lectin domain containing"""	742	protein-coding gene	gene with protein product		108360					Standard	NM_001671		Approved	CLEC4H1	uc002ges.4	P07306	OTTHUMG00000102159	ENST00000269299.3:c.378C>T	chr17.hg19:g.7077757G>A		194.0	0.0		267.0	90.0	NM_001671	I3L1X1	Silent	SNP	ENST00000269299.3	hg19	CCDS11089.1																																																																																			.	.		0.667	ASGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220004.3	NM_001671	
NEURL4	84461	hgsc.bcm.edu	37	17	7219555	7219555	+	Missense_Mutation	SNP	A	A	G			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr17:7219555A>G	ENST00000399464.2	-	29	4591	c.4576T>C	c.(4576-4578)Tcc>Ccc	p.S1526P	NEURL4_ENST00000315614.7_Missense_Mutation_p.S1524P|RP11-542C16.2_ENST00000575474.1_Intron|NEURL4_ENST00000574120.1_5'Flank|GPS2_ENST00000391950.3_5'Flank|GPS2_ENST00000389167.5_5'Flank|NEURL4_ENST00000570460.1_Missense_Mutation_p.S1502P|GPS2_ENST00000380728.2_5'Flank	NM_032442.2	NP_115818.2	Q96JN8	NEUL4_HUMAN	neuralized E3 ubiquitin protein ligase 4	1526						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AGGGCAGCGGAAGGGGGTCCC	0.637																																					p.S1526P		Atlas-SNP	.											.	NEURL4	192	.	0			c.T4576C						.						49.0	56.0	54.0					17																	7219555		1971	4150	6121	SO:0001583	missense	84461	exon29			CAGCGGAAGGGGG		CCDS42251.1, CCDS42252.1	17p13	2013-10-24	2013-10-24		ENSG00000215041	ENSG00000215041			34410	protein-coding gene	gene with protein product		615865	"""neuralized homolog 4 (Drosophila)"""			22261722, 22441691	Standard	NM_001005408		Approved	KIAA1787	uc002gga.1	Q96JN8	OTTHUMG00000132319	ENST00000399464.2:c.4576T>C	chr17.hg19:g.7219555A>G	ENSP00000382390:p.Ser1526Pro	71.0	0.0		89.0	4.0	NM_032442	Q6GPI8|Q96IU9|Q9H0B0	Missense_Mutation	SNP	ENST00000399464.2	hg19	CCDS42251.1	.	.	.	.	.	.	.	.	.	.	A	15.38	2.816549	0.50633	.	.	ENSG00000215041	ENST00000315614;ENST00000399464	T;T	0.36340	1.26;1.26	4.78	2.52	0.30459	.	0.298724	0.27558	U	0.018829	T	0.32645	0.0836	M	0.69823	2.125	0.20563	N	0.999881	B;B	0.09022	0.002;0.001	B;B	0.08055	0.003;0.001	T	0.36578	-0.9742	10	0.72032	D	0.01	-12.4952	4.394	0.11355	0.7286:0.0:0.0959:0.1755	.	1524;1526	Q96JN8-2;Q96JN8	.;NEUL4_HUMAN	P	1524;1526	ENSP00000319826:S1524P;ENSP00000382390:S1526P	ENSP00000319826:S1524P	S	-	1	0	NEURL4	7160279	0.997000	0.39634	0.500000	0.27589	0.984000	0.73092	1.949000	0.40313	0.652000	0.30806	0.460000	0.39030	TCC	.	.		0.637	NEURL4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255434.2	NM_032442	
DNAH2	146754	hgsc.bcm.edu	37	17	7671282	7671282	+	Missense_Mutation	SNP	G	G	C			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr17:7671282G>C	ENST00000572933.1	+	23	5200	c.3740G>C	c.(3739-3741)tGg>tCg	p.W1247S	DNAH2_ENST00000389173.2_Missense_Mutation_p.W1247S			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1247	Stem. {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(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TGGAATGAGTGGAAGACTGGC	0.562																																					p.W1247S		Atlas-SNP	.											.	DNAH2	498	.	0			c.G3740C						.						65.0	60.0	62.0					17																	7671282		2203	4300	6503	SO:0001583	missense	146754	exon22			ATGAGTGGAAGAC	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.3740G>C	chr17.hg19:g.7671282G>C	ENSP00000458355:p.Trp1247Ser	118.0	0.0		95.0	4.0	NM_020877	A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	hg19	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.144790	0.77888	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.65732	-0.17	4.36	4.36	0.52297	Dynein heavy chain, domain-2 (1);	0.000000	0.64402	D	0.000001	D	0.85128	0.5626	H	0.96547	3.84	0.80722	D	1	D	0.71674	0.998	D	0.77004	0.989	D	0.90339	0.4358	10	0.72032	D	0.01	.	15.6686	0.77255	0.0:0.0:1.0:0.0	.	1247	Q9P225	DYH2_HUMAN	S	1247	ENSP00000373825:W1247S	ENSP00000353818:W1247S	W	+	2	0	DNAH2	7612007	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	8.218000	0.89768	1.966000	0.57179	0.491000	0.48974	TGG	.	.		0.562	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877	
DNAH2	146754	hgsc.bcm.edu	37	17	7671482	7671482	+	Splice_Site	SNP	G	G	T			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr17:7671482G>T	ENST00000572933.1	+	24	5298	c.3838G>T	c.(3838-3840)Gac>Tac	p.D1280Y	DNAH2_ENST00000389173.2_Splice_Site_p.D1280Y			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1280	Stem. {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(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TTTTGCTCAGGACCGAAACTG	0.552																																					p.D1280Y		Atlas-SNP	.											.	DNAH2	498	.	0			c.G3838T						.						127.0	133.0	131.0					17																	7671482		2203	4300	6503	SO:0001630	splice_region_variant	146754	exon23			GCTCAGGACCGAA	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.3838-1G>T	chr17.hg19:g.7671482G>T		64.0	0.0		68.0	5.0	NM_020877	A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	hg19	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	G	18.78	3.697017	0.68386	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.62364	0.03	4.26	4.26	0.50523	Dynein heavy chain, domain-2 (1);	0.302454	0.29791	N	0.011187	T	0.78861	0.4350	M	0.89414	3.03	0.80722	D	1	D	0.54964	0.969	P	0.57425	0.82	D	0.83684	0.0173	9	.	.	.	.	15.4504	0.75268	0.0:0.0:1.0:0.0	.	1280	Q9P225	DYH2_HUMAN	Y	1280	ENSP00000373825:D1280Y	.	D	+	1	0	DNAH2	7612207	1.000000	0.71417	1.000000	0.80357	0.553000	0.35397	8.129000	0.89597	1.919000	0.55581	0.561000	0.74099	GAC	.	.		0.552	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877	Missense_Mutation
ALOX12B	242	hgsc.bcm.edu	37	17	7984440	7984440	+	Missense_Mutation	SNP	T	T	C			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr17:7984440T>C	ENST00000319144.4	-	3	678	c.418A>G	c.(418-420)Aag>Gag	p.K140E	AC129492.6_ENST00000399413.3_3'UTR|ALOX12B_ENST00000577351.1_5'Flank	NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	140	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				arachidonic acid metabolic process (GO:0019369)|ceramide biosynthetic process (GO:0046513)|establishment of skin barrier (GO:0061436)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipoxygenase pathway (GO:0019372)|oxidation-reduction process (GO:0055114)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mucus secretion (GO:0070257)|protein lipidation (GO:0006497)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)	arachidonate 12-lipoxygenase activity (GO:0004052)|iron ion binding (GO:0005506)|linoleate 9S-lipoxygenase activity (GO:1990136)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						AAGTCCTGCTTGGCTCTGATC	0.627										Multiple Myeloma(8;0.094)																											p.K140E		Atlas-SNP	.											.	ALOX12B	61	.	0			c.A418G						.						79.0	64.0	69.0					17																	7984440		2203	4300	6503	SO:0001583	missense	242	exon3			CCTGCTTGGCTCT	AF038461	CCDS11129.1	17p13.1	2008-03-18			ENSG00000179477	ENSG00000179477	1.13.11.-	"""Arachidonate lipoxygenases"""	430	protein-coding gene	gene with protein product		603741				9618483	Standard	NM_001139		Approved	12R-LOX	uc002gjy.1	O75342	OTTHUMG00000108180	ENST00000319144.4:c.418A>G	chr17.hg19:g.7984440T>C	ENSP00000315167:p.Lys140Glu	78.0	0.0		83.0	4.0	NM_001139		Missense_Mutation	SNP	ENST00000319144.4	hg19	CCDS11129.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.126026	0.77436	.	.	ENSG00000179477	ENST00000319144	D	0.89810	-2.57	4.13	4.13	0.48395	Lipoxygenase, C-terminal (2);	0.160289	0.53938	D	0.000042	D	0.88288	0.6396	M	0.69358	2.11	0.37884	D	0.930471	P	0.51791	0.948	P	0.45681	0.49	D	0.90661	0.4590	10	0.87932	D	0	-28.3008	11.0749	0.48025	0.0:0.0:0.0:1.0	.	140	O75342	LX12B_HUMAN	E	140	ENSP00000315167:K140E	ENSP00000315167:K140E	K	-	1	0	ALOX12B	7925165	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	2.541000	0.45735	1.874000	0.54306	0.374000	0.22700	AAG	.	.		0.627	ALOX12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226984.3		
NCOR1	9611	hgsc.bcm.edu	37	17	15935796	15935796	+	Splice_Site	SNP	G	G	C			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr17:15935796G>C	ENST00000268712.3	-	46	7394	c.7137C>G	c.(7135-7137)ggC>ggG	p.G2379G	NCOR1_ENST00000395851.1_Splice_Site_p.G2276G|NCOR1_ENST00000395857.3_Splice_Site_p.G963G	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	2379	Interaction with C1D. {ECO:0000250}.				CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|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)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		ACTGAGTTGAGCCTGACAAAA	0.418																																					p.G2379G		Atlas-SNP	.											.	NCOR1	240	.	0			c.C7137G						.						83.0	77.0	79.0					17																	15935796		2203	4300	6503	SO:0001630	splice_region_variant	9611	exon46			AGTTGAGCCTGAC	AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.7136-1C>G	chr17.hg19:g.15935796G>C		77.0	0.0		49.0	25.0	NM_006311	B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Silent	SNP	ENST00000268712.3	hg19	CCDS11175.1																																																																																			.	.		0.418	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311	Silent
MFAP4	4239	hgsc.bcm.edu	37	17	19288768	19288768	+	Splice_Site	SNP	C	C	T			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr17:19288768C>T	ENST00000299610.4	-	4	325		c.e4-1		MFAP4_ENST00000574313.2_5'Flank|MFAP4_ENST00000497081.2_Splice_Site|MFAP4_ENST00000395592.2_Splice_Site	NM_002404.2	NP_002395.1	P55083	MFAP4_HUMAN	microfibrillar-associated protein 4						cell adhesion (GO:0007155)|cellular response to UV-B (GO:0071493)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|regulation of collagen metabolic process (GO:0010712)|UV protection (GO:0009650)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)				large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	10	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					TCTGGAAAACCTGGAGCAGAG	0.547																																					.		Atlas-SNP	.											.	MFAP4	33	.	0			c.241-1G>A						.						49.0	49.0	49.0					17																	19288768		2203	4300	6503	SO:0001630	splice_region_variant	4239	exon5			GAAAACCTGGAGC	L38486	CCDS11208.1, CCDS56023.1	17p11.2	2013-02-06			ENSG00000166482	ENSG00000166482		"""Fibrinogen C domain containing"""	7035	protein-coding gene	gene with protein product	"""microfibril-associated glycoprotein 4"""	600596				7633408	Standard	NM_001198695		Approved		uc002gvs.3	P55083	OTTHUMG00000059585	ENST00000299610.4:c.241-1G>A	chr17.hg19:g.19288768C>T		119.0	0.0		77.0	4.0	NM_002404	A8KAJ1|A8MVM2|B4E317|Q6P680	Splice_Site	SNP	ENST00000299610.4	hg19	CCDS11208.1	.	.	.	.	.	.	.	.	.	.	c	20.9	4.074187	0.76415	.	.	ENSG00000166482	ENST00000395592;ENST00000299610	.	.	.	5.26	5.26	0.73747	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4764	0.84133	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MFAP4	19229361	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	6.981000	0.76166	2.760000	0.94817	0.550000	0.68814	.	.	.		0.547	MFAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132493.2	NM_002404	Intron
KCNJ12	3768	hgsc.bcm.edu	37	17	21319654	21319654	+	Missense_Mutation	SNP	G	G	A			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr17:21319654G>A	ENST00000583088.1	+	3	1895	c.1000G>A	c.(1000-1002)Gag>Aag	p.E334K	KCNJ12_ENST00000331718.5_Missense_Mutation_p.E334K	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	334				Missing (in Ref. 2; AAC50615). {ECO:0000305}.	muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	GCTCTTCGAGGAGAAGAACCA	0.577										Prostate(3;0.18)																											p.E334K		Atlas-SNP	.											.	.	.	.	0			c.G1000A						.						153.0	154.0	154.0					17																	21319654		2203	4300	6503	SO:0001583	missense	100134444	exon3			TTCGAGGAGAAGA	L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6258	protein-coding gene	gene with protein product		602323	"""potassium inwardly-rectifying channel, subfamily J, inhibitor 1"""	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.1000G>A	chr17.hg19:g.21319654G>A	ENSP00000463778:p.Glu334Lys	172.0	0.0		152.0	15.0	NM_001194958	O43401|Q15756|Q8NG63	Missense_Mutation	SNP	ENST00000583088.1	hg19	CCDS11219.1	.	.	.	.	.	.	.	.	.	.	G	19.64	3.866216	0.71949	.	.	ENSG00000184185	ENST00000331718	D	0.91686	-2.89	5.76	5.76	0.90799	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.000000	0.85682	D	0.000000	D	0.89884	0.6844	L	0.41632	1.29	0.80722	D	1	B	0.16603	0.018	B	0.17098	0.017	D	0.85181	0.1004	10	0.66056	D	0.02	.	19.9738	0.97296	0.0:0.0:1.0:0.0	.	334	Q14500	IRK12_HUMAN	K	334	ENSP00000328150:E334K	ENSP00000328150:E334K	E	+	1	0	KCNJ12	21260247	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.698000	0.98700	2.732000	0.93576	0.655000	0.94253	GAG	.	.		0.577	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255060.2	NM_021012	
MYO18A	399687	hgsc.bcm.edu	37	17	27421007	27421007	+	Silent	SNP	A	A	G			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr17:27421007A>G	ENST00000527372.1	-	31	4992	c.4812T>C	c.(4810-4812)tgT>tgC	p.C1604C	MYO18A_ENST00000533112.1_Intron|MYO18A_ENST00000529578.1_5'Flank|TIAF1_ENST00000408971.2_5'Flank|MYO18A_ENST00000354329.4_Silent_p.C1604C|MYO18A_ENST00000531253.1_Silent_p.C1604C	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	1604					actomyosin structure organization (GO:0031032)|cell migration (GO:0016477)|DNA metabolic process (GO:0006259)|Golgi organization (GO:0007030)|Golgi vesicle budding (GO:0048194)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein secretion (GO:0050714)	actomyosin (GO:0042641)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|myosin complex (GO:0016459)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			CCTTCTTCTGACACGACTGCC	0.547																																					p.C1604C	Esophageal Squamous(182;472 2015 7001 15270 22562)	Atlas-SNP	.											.	MYO18A	217	.	0			c.T4812C						.						119.0	126.0	124.0					17																	27421007		2091	4207	6298	SO:0001819	synonymous_variant	399687	exon31			CTTCTGACACGAC	D86970	CCDS45641.1, CCDS45642.1	17q11.2	2011-09-27			ENSG00000196535	ENSG00000196535		"""Myosins / Myosin superfamily : Class XVIII"""	31104	protein-coding gene	gene with protein product		610067				12761286	Standard	NM_078471		Approved	KIAA0216, MysPDZ	uc002hdt.1	Q92614	OTTHUMG00000166360	ENST00000527372.1:c.4812T>C	chr17.hg19:g.27421007A>G		64.0	0.0		76.0	4.0	NM_078471	Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	Silent	SNP	ENST00000527372.1	hg19	CCDS45642.1																																																																																			.	.		0.547	MYO18A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389396.1	NM_078471	
C17orf75	64149	hgsc.bcm.edu	37	17	30662412	30662412	+	Missense_Mutation	SNP	T	T	C			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr17:30662412T>C	ENST00000577809.1	-	6	648	c.599A>G	c.(598-600)gAg>gGg	p.E200G	RP11-227G15.3_ENST00000581915.1_RNA|C17orf75_ENST00000225805.4_Missense_Mutation_p.E200G	NM_022344.3	NP_071739.2	Q9HAS0	NJMU_HUMAN	chromosome 17 open reading frame 75	200										ovary(1)	1		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			TACAACATCCTCAAACCAGCT	0.408																																					p.E200G		Atlas-SNP	.											.	C17orf75	23	.	0			c.A599G						.						184.0	180.0	181.0					17																	30662412		1904	4120	6024	SO:0001583	missense	64149	exon6			ACATCCTCAAACC	AB062437	CCDS58537.1	17q11.2	2013-01-21			ENSG00000108666	ENSG00000108666			30173	protein-coding gene	gene with protein product							Standard	NM_022344		Approved	NJMU-R1	uc002hhg.3	Q9HAS0		ENST00000577809.1:c.599A>G	chr17.hg19:g.30662412T>C	ENSP00000464275:p.Glu200Gly	118.0	0.0		96.0	4.0	NM_022344	Q7Z2H4	Missense_Mutation	SNP	ENST00000577809.1	hg19	CCDS58537.1	.	.	.	.	.	.	.	.	.	.	T	14.24	2.477737	0.44044	.	.	ENSG00000108666	ENST00000225805	.	.	.	5.68	4.59	0.56863	.	0.046659	0.85682	D	0.000000	T	0.57286	0.2043	M	0.61703	1.905	0.50813	D	0.999895	P	0.35575	0.51	B	0.38428	0.273	T	0.59621	-0.7420	9	0.72032	D	0.01	-19.2621	12.2269	0.54465	0.0:0.0:0.1425:0.8575	.	200	Q9HAS0	NJMU_HUMAN	G	200	.	ENSP00000225805:E200G	E	-	2	0	C17orf75	27686525	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.243000	0.65395	0.958000	0.37956	0.460000	0.39030	GAG	.	.		0.408	C17orf75-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447204.1	NM_022344	
TAF15	8148	hgsc.bcm.edu	37	17	34171800	34171800	+	Silent	SNP	A	A	G			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr17:34171800A>G	ENST00000588240.1	+	15	1612	c.1497A>G	c.(1495-1497)ggA>ggG	p.G499G	TAF15_ENST00000592237.1_Intron|TAF15_ENST00000311979.3_Silent_p.G496G	NM_003487.3|NM_139215.2	NP_003478.1|NP_631961.1	Q16514	TAF12_HUMAN	TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa	0					chromatin organization (GO:0006325)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of RNA biosynthetic process (GO:2001141)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)		TAF15/NR4A3(33)	lung(1)|ovary(1)|skin(2)|stomach(1)	5		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		gagaccgaggaggctatggag	0.602			T	"""TEC, CHN1, ZNF384"""	"""extraskeletal myxoid chondrosarcomas, ALL"""																																p.G499G		Atlas-SNP	.		Dom	yes		17	17q11.1-q11.2	8148	"""TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa"""		"""L, M"""	.	TAF15	46	.	0			c.A1497G						.																																			SO:0001819	synonymous_variant	8148	exon15			CCGAGGAGGCTAT	U51334	CCDS32623.1, CCDS59279.1	17q11.1-q11.2	2013-02-12	2002-08-29	2001-12-07		ENSG00000270647		"""RNA binding motif (RRM) containing"""	11547	protein-coding gene	gene with protein product		601574	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, N, 68kD (RNA-binding protein 56)"""	TAF2N		8954779, 9795213	Standard	NM_003487		Approved	hTAFII68, RBP56, Npl3	uc002hkd.4	Q92804		ENST00000588240.1:c.1497A>G	chr17.hg19:g.34171800A>G		74.0	0.0		66.0	5.0	NM_139215	D3DPM5|Q15775|Q5T077	Silent	SNP	ENST00000588240.1	hg19	CCDS32623.1																																																																																			.	.		0.602	TAF15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449134.1	NM_139215	
TOP2A	7153	hgsc.bcm.edu	37	17	38572733	38572733	+	Missense_Mutation	SNP	A	A	G			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr17:38572733A>G	ENST00000423485.1	-	3	367	c.209T>C	c.(208-210)aTt>aCt	p.I70T		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	70					apoptotic chromosome condensation (GO:0030263)|ATP catabolic process (GO:0006200)|cellular response to DNA damage stimulus (GO:0006974)|chromosome segregation (GO:0007059)|DNA ligation (GO:0006266)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|embryonic cleavage (GO:0040016)|hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cell cycle (GO:0000278)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|positive regulation of apoptotic process (GO:0043065)|positive regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral genome replication (GO:0045070)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|DNA-dependent ATPase activity (GO:0008094)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|magnesium ion binding (GO:0000287)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|ubiquitin binding (GO:0043130)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	CCTATAGTTAATGCCAACATC	0.308																																					p.I70T		Atlas-SNP	.											.	TOP2A	124	.	0			c.T209C						.						48.0	44.0	46.0					17																	38572733		1825	4069	5894	SO:0001583	missense	7153	exon3			TAGTTAATGCCAA		CCDS45672.1	17q21-q22	2008-08-06	2002-08-29		ENSG00000131747	ENSG00000131747	5.99.1.2		11989	protein-coding gene	gene with protein product		126430	"""topoisomerase (DNA) II alpha (170kD)"""	TOP2			Standard	NM_001067		Approved		uc002huq.3	P11388	OTTHUMG00000155008	ENST00000423485.1:c.209T>C	chr17.hg19:g.38572733A>G	ENSP00000411532:p.Ile70Thr	138.0	0.0		73.0	4.0	NM_001067	B2RTS1|Q71UN1|Q71UQ5|Q9HB24|Q9HB25|Q9HB26|Q9UP44|Q9UQP9	Missense_Mutation	SNP	ENST00000423485.1	hg19	CCDS45672.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.383077	0.82792	.	.	ENSG00000131747	ENST00000423485;ENST00000269577;ENST00000348049;ENST00000357601	T	0.23552	1.9	4.83	4.83	0.62350	ATPase-like, ATP-binding domain (2);	0.206221	0.42682	D	0.000672	T	0.38348	0.1037	L	0.52126	1.63	0.51233	D	0.999919	B	0.31351	0.32	P	0.46299	0.511	T	0.37454	-0.9705	10	0.87932	D	0	.	14.7218	0.69311	1.0:0.0:0.0:0.0	.	70	P11388	TOP2A_HUMAN	T	70;69;69;70	ENSP00000411532:I70T	ENSP00000269577:I69T	I	-	2	0	TOP2A	35826259	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.201000	0.95017	1.932000	0.55993	0.533000	0.62120	ATT	.	.		0.308	TOP2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338035.1		
KRT26	353288	hgsc.bcm.edu	37	17	38926059	38926059	+	Silent	SNP	A	A	G			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr17:38926059A>G	ENST00000335552.4	-	5	964	c.916T>C	c.(916-918)Tta>Cta	p.L306L		NM_181539.4	NP_853517.2			keratin 26											central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5)	16		Breast(137;0.00526)				TTGCGTTTTAATTCGGTCAGC	0.438																																					p.L306L		Atlas-SNP	.											.	KRT26	49	.	0			c.T916C						.						185.0	169.0	175.0					17																	38926059		2203	4300	6503	SO:0001819	synonymous_variant	353288	exon5			GTTTTAATTCGGT	AJ564205	CCDS11374.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000186393	ENSG00000186393		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	30840	protein-coding gene	gene with protein product			"""keratin 25B"""	KRT25B		16831889	Standard	NM_181539		Approved		uc002hvf.3	Q7Z3Y9	OTTHUMG00000133370	ENST00000335552.4:c.916T>C	chr17.hg19:g.38926059A>G		478.0	0.0		416.0	32.0	NM_181539		Silent	SNP	ENST00000335552.4	hg19	CCDS11374.1																																																																																			.	.		0.438	KRT26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257215.1	NM_181539	
MAPT	4137	hgsc.bcm.edu	37	17	44049306	44049306	+	Missense_Mutation	SNP	C	C	T			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr17:44049306C>T	ENST00000571987.1	+	2	215	c.215C>T	c.(214-216)gCg>gTg	p.A72V	MAPT_ENST00000344290.5_Missense_Mutation_p.A72V|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000574436.1_Missense_Mutation_p.A72V|MAPT_ENST00000535772.1_Missense_Mutation_p.A72V|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000420682.2_Missense_Mutation_p.A72V|MAPT_ENST00000340799.5_Missense_Mutation_p.A72V|MAPT_ENST00000415613.2_Missense_Mutation_p.A72V|MAPT_ENST00000262410.5_Missense_Mutation_p.A72V|MAPT_ENST00000347967.5_Missense_Mutation_p.R8W|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000576518.1_5'Flank|MAPT_ENST00000351559.5_Missense_Mutation_p.A72V|MAPT_ENST00000431008.3_Missense_Mutation_p.A72V			P10636	TAU_HUMAN	microtubule-associated protein tau	72					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)	ACTCCAACAGCGGAAGGTGGG	0.617																																					p.A72V		Atlas-SNP	.											.	MAPT	135	.	0			c.C215T						.						60.0	53.0	56.0					17																	44049306		2203	4300	6503	SO:0001583	missense	4137	exon3			CAACAGCGGAAGG	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.215C>T	chr17.hg19:g.44049306C>T	ENSP00000458742:p.Ala72Val	48.0	0.0		52.0	16.0	NM_001123066	P18518|Q14799|Q15549|Q15550|Q15551|Q1RMF6|Q53YB1|Q5CZI7|Q5XWF0|Q6QT54|Q9UDJ3|Q9UMH0|Q9UQ96	Missense_Mutation	SNP	ENST00000571987.1	hg19	CCDS11501.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.20|10.20	1.283832|1.283832	0.23392|0.23392	.|.	.|.	ENSG00000186868|ENSG00000186868	ENST00000344290;ENST00000262410;ENST00000351559;ENST00000340799;ENST00000535772;ENST00000354326;ENST00000420682;ENST00000415613|ENST00000347967	T;T;T;T;T;T;T|T	0.29142|0.19532	2.74;2.73;2.04;1.58;2.3;1.58;2.74|2.14	5.88|5.88	4.92|4.92	0.64577|0.64577	.|.	0.000000|.	0.44097|.	D|.	0.000498|.	T|T	0.20129|0.20129	0.0484|0.0484	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	1|1	B;B;B;B;B|.	0.19073|.	0.027;0.014;0.004;0.009;0.033|.	B;B;B;B;B|.	0.20767|.	0.031;0.004;0.005;0.004;0.007|.	T|T	0.15925|0.15925	-1.0420|-1.0420	10|7	0.51188|0.66056	T|D	0.08|0.02	-13.4756|-13.4756	11.2157|11.2157	0.48825|0.48825	0.0:0.9159:0.0:0.0841|0.0:0.9159:0.0:0.0841	.|.	72;72;72;72;72|.	P10636-9;P10636-7;F8WAB2;P10636-8;P10636|.	.;.;.;.;TAU_HUMAN|.	V|W	72|8	ENSP00000340820:A72V;ENSP00000262410:A72V;ENSP00000303214:A72V;ENSP00000340438:A72V;ENSP00000443028:A72V;ENSP00000413056:A72V;ENSP00000410838:A72V|ENSP00000302706:R8W	ENSP00000262410:A72V|ENSP00000302706:R8W	A|R	+|+	2|1	0|2	MAPT|MAPT	41405142|41405142	0.286000|0.286000	0.24305|0.24305	0.211000|0.211000	0.23655|0.23655	0.019000|0.019000	0.09904|0.09904	1.413000|1.413000	0.34725|0.34725	1.500000|1.500000	0.48636|0.48636	-0.263000|-0.263000	0.10527|0.10527	GCG|CGG	.	.		0.617	MAPT-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000440133.1	NM_016835	
ITGB3	3690	hgsc.bcm.edu	37	17	45384933	45384933	+	Missense_Mutation	SNP	T	T	C	rs398122374		TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr17:45384933T>C	ENST00000559488.1	+	14	2247	c.2231T>C	c.(2230-2232)cTc>cCc	p.L744P	RP11-290H9.4_ENST00000575039.1_RNA|ITGB3_ENST00000560629.1_Silent_p.P732P|RP11-290H9.4_ENST00000576345.1_RNA|ITGB3_ENST00000435993.2_Missense_Mutation_p.L697P	NM_000212.2	NP_000203.2	P05106	ITB3_HUMAN	integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	744					activation of protein kinase activity (GO:0032147)|angiogenesis involved in wound healing (GO:0060055)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|mesodermal cell differentiation (GO:0048333)|negative chemotaxis (GO:0050919)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein folding (GO:0006457)|regulation of bone resorption (GO:0045124)|smooth muscle cell migration (GO:0014909)|substrate adhesion-dependent cell spreading (GO:0034446)|tube development (GO:0035295)|viral entry into host cell (GO:0046718)|wound healing (GO:0042060)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|melanosome (GO:0042470)|microvillus membrane (GO:0031528)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|receptor complex (GO:0043235)|ruffle membrane (GO:0032587)	cell adhesion molecule binding (GO:0050839)|extracellular matrix binding (GO:0050840)|fibronectin binding (GO:0001968)|identical protein binding (GO:0042802)|platelet-derived growth factor receptor binding (GO:0005161)|protease binding (GO:0002020)|protein disulfide isomerase activity (GO:0003756)|receptor activity (GO:0004872)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Antithymocyte globulin(DB00098)|Eptifibatide(DB00063)|Tirofiban(DB00775)	TGGAAACTCCTCATCACCATC	0.542																																					p.L744P		Atlas-SNP	.											.	ITGB3	157	.	0			c.T2231C						.						84.0	67.0	73.0					17																	45384933		2203	4300	6503	SO:0001583	missense	3690	exon14			AACTCCTCATCAC		CCDS11511.1	17q21.32	2014-09-17			ENSG00000259207	ENSG00000259207		"""CD molecules"", ""Integrins"""	6156	protein-coding gene	gene with protein product	"""platelet glycoprotein IIIa"""	173470		GP3A		2454952	Standard	NM_000212		Approved	CD61, GPIIIa	uc002ilj.3	P05106	OTTHUMG00000171956	ENST00000559488.1:c.2231T>C	chr17.hg19:g.45384933T>C	ENSP00000452786:p.Leu744Pro	127.0	0.0		113.0	5.0	NM_000212	A0PJW2|D3DXJ8|O15495|Q12806|Q13413|Q14648|Q16499	Missense_Mutation	SNP	ENST00000559488.1	hg19	CCDS11511.1	.	.	.	.	.	.	.	.	.	.	T	25.0	4.592322	0.86953	.	.	ENSG00000178852	ENST00000262017;ENST00000435993	D	0.91843	-2.92	5.48	5.48	0.80851	Integrin beta subunit, cytoplasmic (2);	0.058087	0.64402	D	0.000002	D	0.97052	0.9037	H	0.94503	3.545	0.80722	D	1	D	0.71674	0.998	D	0.74348	0.983	D	0.98091	1.0409	10	0.87932	D	0	.	14.8497	0.70286	0.0:0.0:0.0:1.0	.	744	P05106	ITB3_HUMAN	P	744;697	ENSP00000407801:L697P	ENSP00000262017:L744P	L	+	2	0	C17orf57	42739932	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.182000	0.71995	2.200000	0.70718	0.460000	0.39030	CTC	.	.		0.542	ITGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416111.3	NM_000212	
HOXB13	10481	hgsc.bcm.edu	37	17	46805467	46805467	+	Silent	SNP	C	C	T	rs199561305		TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr17:46805467C>T	ENST00000290295.7	-	1	1073	c.489G>A	c.(487-489)ctG>ctA	p.L163L	PRAC2_ENST00000422730.2_RNA	NM_006361.5	NP_006352.2	Q92826	HXB13_HUMAN	homeobox B13	163					angiogenesis (GO:0001525)|epidermis development (GO:0008544)|epithelial cell maturation involved in prostate gland development (GO:0060743)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|response to testosterone (GO:0033574)|response to wounding (GO:0009611)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|kidney(2)|lung(6)|prostate(1)	11						CCACAGGCAACAGGGAGTCAT	0.582																																					p.L163L		Atlas-SNP	.											.	HOXB13	28	.	0			c.G489A						.						85.0	81.0	83.0					17																	46805467		2203	4300	6503	SO:0001819	synonymous_variant	10481	exon1			AGGCAACAGGGAG	U57052	CCDS11536.1	17q21.32	2014-09-17	2005-12-22		ENSG00000159184	ENSG00000159184		"""Homeoboxes / ANTP class : HOXL subclass"""	5112	protein-coding gene	gene with protein product		604607	"""homeo box B13"""			8756292, 9665387	Standard	NM_006361		Approved		uc002ioa.3	Q92826	OTTHUMG00000159900	ENST00000290295.7:c.489G>A	chr17.hg19:g.46805467C>T		104.0	0.0		94.0	4.0	NM_006361	B2R878|Q96QM4|Q99810	Silent	SNP	ENST00000290295.7	hg19	CCDS11536.1																																																																																			.	C|1.000;G|0.000		0.582	HOXB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358087.3	NM_006361	
SCPEP1	59342	hgsc.bcm.edu	37	17	55058493	55058493	+	Missense_Mutation	SNP	G	G	A			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr17:55058493G>A	ENST00000262288.3	+	2	182	c.127G>A	c.(127-129)Gtg>Atg	p.V43M	SCPEP1_ENST00000571898.1_3'UTR|RP5-1107A17.4_ENST00000572877.1_RNA	NM_021626.2	NP_067639.1	Q9HB40	RISC_HUMAN	serine carboxypeptidase 1	43					negative regulation of blood pressure (GO:0045776)|positive regulation of vasodilation (GO:0045909)|retinoic acid metabolic process (GO:0042573)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	serine-type carboxypeptidase activity (GO:0004185)			endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	14	Breast(9;2.86e-08)					ATGGGATTATGTGACGGTCCG	0.502																																					p.V43M		Atlas-SNP	.											.	SCPEP1	35	.	0			c.G127A						.						141.0	114.0	123.0					17																	55058493		2203	4300	6503	SO:0001583	missense	59342	exon2			GATTATGTGACGG	AF282618	CCDS11593.1	17q22	2012-09-20			ENSG00000121064	ENSG00000121064			29507	protein-coding gene	gene with protein product	"""retinoid inducible serine carboxypeptidase"""					11447226, 12975309	Standard	NM_021626		Approved	RISC	uc002iuv.4	Q9HB40	OTTHUMG00000178129	ENST00000262288.3:c.127G>A	chr17.hg19:g.55058493G>A	ENSP00000262288:p.Val43Met	218.0	0.0		168.0	49.0	NM_021626	Q96A94|Q9H3F0	Missense_Mutation	SNP	ENST00000262288.3	hg19	CCDS11593.1	.	.	.	.	.	.	.	.	.	.	G	17.65	3.441897	0.63067	.	.	ENSG00000121064	ENST00000262288	D	0.88046	-2.33	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	D	0.95446	0.8521	M	0.94021	3.485	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96075	0.9049	10	0.87932	D	0	-22.7715	18.3196	0.90232	0.0:0.0:1.0:0.0	.	43	Q9HB40	RISC_HUMAN	M	43	ENSP00000262288:V43M	ENSP00000262288:V43M	V	+	1	0	SCPEP1	52413492	1.000000	0.71417	0.998000	0.56505	0.023000	0.10783	6.016000	0.70798	2.764000	0.94973	0.655000	0.94253	GTG	.	.		0.502	SCPEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440622.1	NM_021626	
BRIP1	83990	hgsc.bcm.edu	37	17	59871069	59871069	+	Silent	SNP	T	T	C			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr17:59871069T>C	ENST00000259008.2	-	10	1629	c.1362A>G	c.(1360-1362)gaA>gaG	p.E454E	BRIP1_ENST00000577598.1_Silent_p.E454E	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	454					DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						CTACAAGATATTCAGCGTTTG	0.333			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks																													p.E454E		Atlas-SNP	.	yes	Rec		"""Fanconi anaemia J, breast cancer susceptiblity"""	17	17q22	83990	BRCA1 interacting protein C-terminal helicase 1		"""L, E"""	.	BRIP1	237	.	0			c.A1362G						.						72.0	68.0	69.0					17																	59871069		2203	4297	6500	SO:0001819	synonymous_variant	83990	exon10			AAGATATTCAGCG	AF360549	CCDS11631.1	17q22.2	2014-09-17				ENSG00000136492		"""Fanconi anemia, complementation groups"""	20473	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-associated helicase 1"""	605882				11595410, 11301010	Standard	NM_032043		Approved	OF, BACH1, FANCJ	uc002izk.2	Q9BX63		ENST00000259008.2:c.1362A>G	chr17.hg19:g.59871069T>C		68.0	0.0		64.0	5.0	NM_032043	Q3MJE2|Q8NCI5	Silent	SNP	ENST00000259008.2	hg19	CCDS11631.1																																																																																			.	.		0.333	BRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445362.1	NM_032043	
HELZ	9931	hgsc.bcm.edu	37	17	65185736	65185736	+	Missense_Mutation	SNP	T	T	A			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr17:65185736T>A	ENST00000358691.5	-	11	999	c.833A>T	c.(832-834)cAc>cTc	p.H278L	HELZ_ENST00000580168.1_Missense_Mutation_p.H278L|HELZ_ENST00000580662.1_5'Flank	NM_014877.3	NP_055692	P42694	HELZ_HUMAN	helicase with zinc finger	278						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					CCATGTCTGGTGGGATTTTTT	0.368																																					p.H278L		Atlas-SNP	.											.	HELZ	160	.	0			c.A833T						.						188.0	170.0	176.0					17																	65185736		1887	4104	5991	SO:0001583	missense	9931	exon11			GTCTGGTGGGATT	D29677	CCDS42374.1	17q24.2	2013-01-18			ENSG00000198265	ENSG00000198265		"""Zinc fingers, CCCH-type domain containing"""	16878	protein-coding gene	gene with protein product	"""down-regulated in human cancers"""	606699				10471385, 12691822	Standard	NM_014877		Approved	KIAA0054, HUMORF5, DHRC	uc002jfx.4	P42694	OTTHUMG00000179555	ENST00000358691.5:c.833A>T	chr17.hg19:g.65185736T>A	ENSP00000351524:p.His278Leu	195.0	0.0		146.0	35.0	NM_014877	I6L9H4	Missense_Mutation	SNP	ENST00000358691.5	hg19	CCDS42374.1	.	.	.	.	.	.	.	.	.	.	T	10.74	1.436808	0.25900	.	.	ENSG00000198265	ENST00000358691;ENST00000417253	D;T	0.82619	-1.63;1.52	5.06	3.98	0.46160	.	0.157358	0.56097	D	0.000021	T	0.73210	0.3558	L	0.29908	0.895	0.43399	D	0.995522	B;B	0.29481	0.245;0.075	B;B	0.29176	0.099;0.054	T	0.69053	-0.5247	10	0.45353	T	0.12	-10.7043	10.753	0.46219	0.0:0.0754:0.0:0.9246	.	278;278	B7ZLW2;P42694	.;HELZ_HUMAN	L	278	ENSP00000351524:H278L;ENSP00000411144:H278L	ENSP00000351524:H278L	H	-	2	0	HELZ	62616198	1.000000	0.71417	0.980000	0.43619	0.960000	0.62799	5.054000	0.64275	0.893000	0.36288	0.528000	0.53228	CAC	.	.		0.368	HELZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000447068.1	NM_014877	
ABCA6	23460	hgsc.bcm.edu	37	17	67085652	67085652	+	Missense_Mutation	SNP	T	T	C			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr17:67085652T>C	ENST00000284425.2	-	27	3734	c.3560A>G	c.(3559-3561)gAg>gGg	p.E1187G	ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1187					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)					AAAATTTGCCTCTGGAAATTC	0.378																																					p.E1187G		Atlas-SNP	.											.	ABCA6	210	.	0			c.A3560G						.						121.0	124.0	123.0					17																	67085652		2203	4300	6503	SO:0001583	missense	23460	exon27			TTTGCCTCTGGAA	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.3560A>G	chr17.hg19:g.67085652T>C	ENSP00000284425:p.Glu1187Gly	66.0	0.0		73.0	4.0	NM_080284	Q6NSH9|Q8N856|Q8WWZ6	Missense_Mutation	SNP	ENST00000284425.2	hg19	CCDS11683.1	.	.	.	.	.	.	.	.	.	.	T	4.336	0.061842	0.08339	.	.	ENSG00000154262	ENST00000284425;ENST00000446604	D	0.86865	-2.18	4.0	1.71	0.24356	.	1.068010	0.07406	N	0.891605	T	0.77678	0.4166	N	0.25647	0.755	0.09310	N	1	B	0.02656	0.0	B	0.10450	0.005	T	0.61931	-0.6961	10	0.36615	T	0.2	.	4.2972	0.10908	0.0:0.1075:0.2023:0.6901	.	1187	Q8N139	ABCA6_HUMAN	G	1187;47	ENSP00000284425:E1187G	ENSP00000284425:E1187G	E	-	2	0	ABCA6	64597247	0.005000	0.15991	0.000000	0.03702	0.003000	0.03518	1.750000	0.38329	0.321000	0.23259	0.533000	0.62120	GAG	.	.		0.378	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450463.1	NM_080284	
ABCA10	10349	hgsc.bcm.edu	37	17	67148261	67148261	+	Silent	SNP	T	T	C			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr17:67148261T>C	ENST00000269081.4	-	37	5229	c.4320A>G	c.(4318-4320)aaA>aaG	p.K1440K	ABCA10_ENST00000416101.2_3'UTR|ABCA10_ENST00000519732.1_5'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	1440	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					GTTCTTTCATTTTTATTTCTA	0.383																																					p.K1440K		Atlas-SNP	.											.	ABCA10	209	.	0			c.A4320G						.						87.0	92.0	90.0					17																	67148261		2203	4300	6503	SO:0001819	synonymous_variant	10349	exon37			TTTCATTTTTATT	AY247065	CCDS11684.1	17q24	2012-03-14			ENSG00000154263	ENSG00000154263		"""ATP binding cassette transporters / subfamily A"""	30	protein-coding gene	gene with protein product		612508				12821155, 11435397	Standard	NM_080282		Approved	EST698739	uc010dfa.1	Q8WWZ4	OTTHUMG00000164716	ENST00000269081.4:c.4320A>G	chr17.hg19:g.67148261T>C		93.0	0.0		78.0	4.0	NM_080282	C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	Silent	SNP	ENST00000269081.4	hg19	CCDS11684.1																																																																																			.	.		0.383	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379881.4	NM_080282	
TMC8	147138	hgsc.bcm.edu	37	17	76129494	76129494	+	Missense_Mutation	SNP	C	C	T			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr17:76129494C>T	ENST00000318430.5	+	6	913	c.539C>T	c.(538-540)aCc>aTc	p.T180I	TMC8_ENST00000589691.1_5'UTR|TMC6_ENST00000322914.3_5'Flank	NM_152468.4	NP_689681.2	Q8IU68	TMC8_HUMAN	transmembrane channel-like 8	180					ion transport (GO:0006811)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|regulation of cell growth (GO:0001558)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|zinc ion homeostasis (GO:0055069)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	receptor binding (GO:0005102)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)			CAGGCCTTCACCAACACCTAT	0.612																																					p.T180I		Atlas-SNP	.											.	TMC8	44	.	0			c.C539T						.						142.0	130.0	134.0					17																	76129494		2203	4300	6503	SO:0001583	missense	147138	exon6			CCTTCACCAACAC	AY057380	CCDS32749.1	17q25.3	2014-09-17	2005-11-10	2005-11-10	ENSG00000167895	ENSG00000167895			20474	protein-coding gene	gene with protein product		605829	"""epidermodysplasia verruciformis 2"""	EVER2		12426567	Standard	NM_152468		Approved	EVIN2	uc002jup.2	Q8IU68		ENST00000318430.5:c.539C>T	chr17.hg19:g.76129494C>T	ENSP00000325561:p.Thr180Ile	141.0	0.0		115.0	5.0	NM_152468	Q2YDC0|Q8IWU7|Q8N358|Q8NF04	Missense_Mutation	SNP	ENST00000318430.5	hg19	CCDS32749.1	.	.	.	.	.	.	.	.	.	.	C	4.165	0.029110	0.08054	.	.	ENSG00000167895	ENST00000318430;ENST00000301627	T	0.55588	0.51	4.08	-4.49	0.03504	.	0.666605	0.14835	N	0.295647	T	0.23330	0.0564	N	0.11255	0.115	0.80722	D	1	B	0.10296	0.003	B	0.04013	0.001	T	0.01844	-1.1262	10	0.37606	T	0.19	-9.2058	3.5926	0.07994	0.2071:0.1567:0.4943:0.1419	.	180	Q8IU68	TMC8_HUMAN	I	180	ENSP00000325561:T180I	ENSP00000301627:T180I	T	+	2	0	TMC8	73641089	0.001000	0.12720	0.991000	0.47740	0.443000	0.32047	-0.600000	0.05693	-0.435000	0.07264	-0.311000	0.09066	ACC	.	.		0.612	TMC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436900.3		
DLGAP1	9229	hgsc.bcm.edu	37	18	3742408	3742408	+	Missense_Mutation	SNP	G	G	T			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr18:3742408G>T	ENST00000315677.3	-	6	1872	c.1277C>A	c.(1276-1278)gCa>gAa	p.A426E	DLGAP1_ENST00000400155.1_Missense_Mutation_p.A132E|DLGAP1_ENST00000539435.1_Missense_Mutation_p.A124E|DLGAP1_ENST00000478161.1_5'UTR|DLGAP1_ENST00000400149.3_Missense_Mutation_p.A134E|DLGAP1_ENST00000534970.1_Missense_Mutation_p.A138E|DLGAP1_ENST00000584874.1_Missense_Mutation_p.A426E|DLGAP1_ENST00000515196.2_Missense_Mutation_p.A426E|DLGAP1_ENST00000400145.2_Missense_Mutation_p.A124E|DLGAP1_ENST00000581699.1_Missense_Mutation_p.A132E|DLGAP1_ENST00000400147.2_Missense_Mutation_p.A124E|DLGAP1_ENST00000400150.3_Missense_Mutation_p.A132E|DLGAP1_ENST00000581527.1_Missense_Mutation_p.A426E	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	426					synaptic transmission (GO:0007268)	cell junction (GO:0030054)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				GAGCAAGCCTGCAGGGTCCAG	0.577																																					p.A426E		Atlas-SNP	.											.	DLGAP1	201	.	0			c.C1277A						.						71.0	64.0	66.0					18																	3742408		2203	4300	6503	SO:0001583	missense	9229	exon6			AAGCCTGCAGGGT	AB000277	CCDS11836.1, CCDS42406.1, CCDS56049.1, CCDS56050.1, CCDS56051.1, CCDS56052.1, CCDS56053.1, CCDS74191.1	18p11.3	2008-07-28	2001-11-28		ENSG00000170579	ENSG00000170579			2905	protein-coding gene	gene with protein product		605445	"""discs, large (Drosophila) homolog-associated protein 1"""			9024696, 9286858	Standard	NM_004746		Approved	GKAP, SAPAP1, DAP-1	uc002kmf.3	O14490	OTTHUMG00000131537	ENST00000315677.3:c.1277C>A	chr18.hg19:g.3742408G>T	ENSP00000316377:p.Ala426Glu	148.0	0.0		125.0	42.0	NM_001242761	A8MWN8|B2RMU8|B7WPA1|B7Z2H2|B7Z2I2|B7Z9Y4|O14489|P78335	Missense_Mutation	SNP	ENST00000315677.3	hg19	CCDS11836.1	.	.	.	.	.	.	.	.	.	.	G	14.43	2.532180	0.45073	.	.	ENSG00000170579	ENST00000315677;ENST00000400147;ENST00000400150;ENST00000400149;ENST00000400155;ENST00000534970;ENST00000539435;ENST00000400145;ENST00000515196	T;T;T;T;T;T;T;T;T	0.21932	1.98;1.98;1.98;1.98;1.98;1.98;1.98;1.98;1.98	4.97	4.09	0.47781	.	0.251600	0.40385	N	0.001105	T	0.25606	0.0623	L	0.56769	1.78	0.38038	D	0.93536	B;B;B;B;B;B;B;B;B	0.28584	0.047;0.112;0.073;0.1;0.167;0.216;0.16;0.005;0.032	B;B;B;B;B;B;B;B;B	0.31337	0.024;0.024;0.028;0.036;0.028;0.079;0.128;0.017;0.062	T	0.16453	-1.0402	10	0.59425	D	0.04	-5.0623	15.125	0.72475	0.0:0.0:0.8571:0.1429	.	426;138;112;132;124;426;124;426;124	B7Z9Y4;B7Z2H2;B7Z2J5;A8MWN8;B7Z2I2;Q6IS01;O14490-3;O14490;O14490-2	.;.;.;.;.;.;.;DLGP1_HUMAN;.	E	426;124;132;134;132;138;124;124;426	ENSP00000316377:A426E;ENSP00000383011:A124E;ENSP00000383014:A132E;ENSP00000383013:A134E;ENSP00000383019:A132E;ENSP00000437817:A138E;ENSP00000446312:A124E;ENSP00000383010:A124E;ENSP00000445973:A426E	ENSP00000316377:A426E	A	-	2	0	DLGAP1	3732408	1.000000	0.71417	0.969000	0.41365	0.980000	0.70556	5.334000	0.65923	1.245000	0.43885	0.516000	0.50304	GCA	.	.		0.577	DLGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254394.4		
ANKRD30B	374860	hgsc.bcm.edu	37	18	14791433	14791433	+	Missense_Mutation	SNP	T	T	C			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr18:14791433T>C	ENST00000358984.4	+	16	1948	c.1768T>C	c.(1768-1770)Tat>Cat	p.Y590H	ANKRD30B_ENST00000447268.2_Missense_Mutation_p.Y590H|ANKRD30B_ENST00000579292.1_Intron	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	590										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						GAAGGATGTGTATTTACCCAA	0.284																																					p.Y590H		Atlas-SNP	.											.	ANKRD30B	237	.	0			c.T1768C						.						79.0	61.0	67.0					18																	14791433		692	1584	2276	SO:0001583	missense	374860	exon16			GATGTGTATTTAC	BC028407	CCDS54182.1	18p11.21	2013-01-10			ENSG00000180777	ENSG00000180777		"""Ankyrin repeat domain containing"""	24165	protein-coding gene	gene with protein product						11280766	Standard	NM_001145029		Approved	NY-BR-1.1	uc010dlo.2	Q9BXX2		ENST00000358984.4:c.1768T>C	chr18.hg19:g.14791433T>C	ENSP00000351875:p.Tyr590His	314.0	0.0		246.0	93.0	NM_001145029	B4DGP1|F8WAG3|Q4G175	Missense_Mutation	SNP	ENST00000358984.4	hg19	CCDS54182.1	.	.	.	.	.	.	.	.	.	.	N	2.726	-0.265509	0.05754	.	.	ENSG00000180777	ENST00000358984;ENST00000447268	T;T	0.05996	3.36;3.36	0.749	-1.5	0.08691	.	.	.	.	.	T	0.01800	0.0057	N	0.01576	-0.805	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.44620	-0.9316	9	0.20046	T	0.44	.	2.1247	0.03735	0.0:0.3053:0.3411:0.3536	.	590	F8WAG3	.	H	590	ENSP00000351875:Y590H;ENSP00000399031:Y590H	ENSP00000351875:Y590H	Y	+	1	0	ANKRD30B	14781433	0.102000	0.21896	0.000000	0.03702	0.002000	0.02628	0.521000	0.22893	-1.031000	0.03308	0.241000	0.17934	TAT	.	.		0.284	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443557.1	NM_001145029	
GREB1L	80000	hgsc.bcm.edu	37	18	19095498	19095498	+	Silent	SNP	C	C	T			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr18:19095498C>T	ENST00000580732.2	+	29	5403	c.5022C>T	c.(5020-5022)agC>agT	p.S1674S	GREB1L_ENST00000424526.1_Silent_p.S1674S|GREB1L_ENST00000400483.4_3'UTR|GREB1L_ENST00000269218.6_Silent_p.S1565S			Q9C091	GRB1L_HUMAN	growth regulation by estrogen in breast cancer-like	1674						integral component of membrane (GO:0016021)				breast(5)|endometrium(4)|kidney(6)|lung(1)|skin(1)	17						AATGGAGCAGCAAGCTGACTT	0.448																																					p.S1674S		Atlas-SNP	.											.	GREB1L	69	.	0			c.C5022T						.						112.0	89.0	96.0					18																	19095498		692	1591	2283	SO:0001819	synonymous_variant	80000	exon29			GAGCAGCAAGCTG	AK023749	CCDS45836.1	18q11.2	2009-09-08	2009-09-08	2009-09-08					31042	protein-coding gene	gene with protein product			"""KIAA1772"""	KIAA1772		11214970	Standard	NM_001142966		Approved	FLJ13687, C18orf6	uc010xam.2	Q9C091		ENST00000580732.2:c.5022C>T	chr18.hg19:g.19095498C>T		129.0	0.0		95.0	4.0	NM_001142966	A4QN17|Q9H8F1	Silent	SNP	ENST00000580732.2	hg19	CCDS45836.1																																																																																			.	.		0.448	GREB1L-003	KNOWN	not_organism_supported|upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443782.2	NM_024935	
TRAPPC8	22878	hgsc.bcm.edu	37	18	29446819	29446819	+	Silent	SNP	A	A	G			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr18:29446819A>G	ENST00000283351.4	-	18	2918	c.2583T>C	c.(2581-2583)tgT>tgC	p.C861C	TRAPPC8_ENST00000582539.1_Silent_p.C807C	NM_014939.3	NP_055754	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	861					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TACCTGTGTGACATCCGGGAA	0.383																																					p.C861C		Atlas-SNP	.											.	TRAPPC8	126	.	0			c.T2583C						.						145.0	141.0	143.0					18																	29446819		2203	4300	6503	SO:0001819	synonymous_variant	22878	exon18			TGTGTGACATCCG	AB023229	CCDS11901.1	18q12.1	2011-10-10	2010-06-29	2010-06-29	ENSG00000153339	ENSG00000153339		"""Trafficking protein particle complex"""	29169	protein-coding gene	gene with protein product	"""general sporulation gene 1 homolog (S. cerevisiae)"""	614136	"""KIAA1012"""	KIAA1012		10231032, 11230166	Standard	NM_014939		Approved	HsT2706, TRS85, GSG1	uc002kxc.4	Q9Y2L5	OTTHUMG00000132267	ENST00000283351.4:c.2583T>C	chr18.hg19:g.29446819A>G		62.0	0.0		59.0	4.0	NM_014939	A0JP15|B3KME5|Q9H0L2	Silent	SNP	ENST00000283351.4	hg19	CCDS11901.1																																																																																			.	.		0.383	TRAPPC8-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255355.1	NM_014939	
KATNAL2	83473	hgsc.bcm.edu	37	18	44626699	44626699	+	Silent	SNP	C	C	T			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr18:44626699C>T	ENST00000245121.5	+	14	1427	c.1233C>T	c.(1231-1233)atC>atT	p.I411I	KATNAL2_ENST00000356157.7_Silent_p.I483I	NM_031303.2	NP_112593.2			katanin p60 subunit A-like 2											central_nervous_system(2)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	27						TGAGGAAGATCTTTGATGCAC	0.493											OREG0024959	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.I411I		Atlas-SNP	.											.	KATNAL2	64	.	0			c.C1233T						.						103.0	92.0	96.0					18																	44626699		2203	4300	6503	SO:0001819	synonymous_variant	83473	exon14			GAAGATCTTTGAT	BC034999	CCDS32828.1	18q21.1	2010-04-21			ENSG00000167216	ENSG00000167216		"""ATPases / AAA-type"""	25387	protein-coding gene	gene with protein product		614697				12477932	Standard	NM_031303		Approved	MGC33211, DKFZP667C165	uc002lco.3	Q8IYT4		ENST00000245121.5:c.1233C>T	chr18.hg19:g.44626699C>T		47.0	0.0	925	36.0	7.0	NM_031303		Silent	SNP	ENST00000245121.5	hg19	CCDS32828.1																																																																																			.	.		0.493	KATNAL2-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446138.2	NM_031303	
MAPK4	5596	hgsc.bcm.edu	37	18	48190780	48190780	+	Missense_Mutation	SNP	A	A	G			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr18:48190780A>G	ENST00000400384.2	+	2	1488	c.452A>G	c.(451-453)aAg>aGg	p.K151R	MAPK4_ENST00000588540.1_Missense_Mutation_p.K151R|MAPK4_ENST00000587823.1_3'UTR|MAPK4_ENST00000540640.1_Intron|MAPK4_ENST00000592595.1_Missense_Mutation_p.K151R	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	151	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|MAPK cascade (GO:0000165)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)			lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		AGGGACCTGAAGCCCGCCAAC	0.562																																					p.K151R		Atlas-SNP	.											.	MAPK4	75	.	0			c.A452G						.						60.0	63.0	62.0					18																	48190780		2196	4296	6492	SO:0001583	missense	5596	exon2			ACCTGAAGCCCGC	X59727	CCDS42437.1	18q21.1	2012-10-02			ENSG00000141639	ENSG00000141639		"""Mitogen-activated protein kinase cascade / Kinases"""	6878	protein-coding gene	gene with protein product		176949		PRKM4		8290275	Standard	XM_005258299		Approved	Erk3-related, Erk4	uc002lev.3	P31152	OTTHUMG00000179853	ENST00000400384.2:c.452A>G	chr18.hg19:g.48190780A>G	ENSP00000383234:p.Lys151Arg	93.0	0.0		79.0	4.0	NM_002747	A1A4C4|Q0VG04	Missense_Mutation	SNP	ENST00000400384.2	hg19	CCDS42437.1	.	.	.	.	.	.	.	.	.	.	A	31	5.066309	0.93898	.	.	ENSG00000141639	ENST00000400384	D	0.90900	-2.75	5.87	5.87	0.94306	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	D	0.96244	0.8775	M	0.91406	3.205	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.96952	0.9695	10	0.72032	D	0.01	-17.6672	15.2414	0.73474	1.0:0.0:0.0:0.0	.	151;151	Q0VG04;P31152	.;MK04_HUMAN	R	151	ENSP00000383234:K151R	ENSP00000383234:K151R	K	+	2	0	MAPK4	46444778	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.243000	0.73865	0.459000	0.35465	AAG	.	.		0.562	MAPK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448631.2	NM_002747	
STARD6	147323	hgsc.bcm.edu	37	18	51880863	51880863	+	Silent	SNP	A	A	C			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr18:51880863A>C	ENST00000581310.1	-	4	454	c.81T>G	c.(79-81)gtT>gtG	p.V27V	STARD6_ENST00000580990.2_5'Flank|STARD6_ENST00000584040.1_Silent_p.V27V|STARD6_ENST00000307844.3_Silent_p.V27V|STARD6_ENST00000577499.1_Silent_p.V27V			P59095	STAR6_HUMAN	StAR-related lipid transfer (START) domain containing 6	27	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				lipid transport (GO:0006869)		lipid binding (GO:0008289)			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)	8				Colorectal(16;0.021)|READ - Rectum adenocarcinoma(59;0.188)		CTGAAGTTTTAACCACTTTCC	0.289																																					p.V27V		Atlas-SNP	.											.	STARD6	19	.	0			c.T81G						.						65.0	66.0	66.0					18																	51880863		2203	4300	6503	SO:0001819	synonymous_variant	147323	exon1			AGTTTTAACCACT	AF480305	CCDS11955.1	18q21.2	2011-09-12	2007-08-16		ENSG00000174448	ENSG00000174448		"""StAR-related lipid transfer (START) domain containing"""	18066	protein-coding gene	gene with protein product		607051	"""START domain containing 6"""			12011452	Standard	NM_139171		Approved		uc010xdt.2	P59095	OTTHUMG00000132702	ENST00000581310.1:c.81T>G	chr18.hg19:g.51880863A>C		192.0	0.0		170.0	55.0	NM_139171		Silent	SNP	ENST00000581310.1	hg19	CCDS11955.1																																																																																			.	.		0.289	STARD6-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256000.3	NM_139171	
ATP8B1	5205	hgsc.bcm.edu	37	18	55351288	55351288	+	Missense_Mutation	SNP	A	A	G			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr18:55351288A>G	ENST00000283684.4	-	14	1609	c.1610T>C	c.(1609-1611)gTc>gCc	p.V537A	RP11-35G9.5_ENST00000588925.1_RNA|RP11-35G9.3_ENST00000599199.1_RNA|ATP8B1_ENST00000536015.1_Missense_Mutation_p.V537A			O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	537					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|drug transmembrane transport (GO:0006855)|inner ear receptor cell development (GO:0060119)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|phospholipid translocation (GO:0045332)|regulation of microvillus assembly (GO:0032534)|sensory perception of sound (GO:0007605)|transmembrane transport (GO:0055085)|vestibulocochlear nerve formation (GO:0021650)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|cardiolipin binding (GO:1901612)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				ATCCACCATGACTGTGTGGCA	0.448																																					p.V537A		Atlas-SNP	.											.	ATP8B1	126	.	0			c.T1610C						.						158.0	129.0	139.0					18																	55351288		2203	4300	6503	SO:0001583	missense	5205	exon15			ACCATGACTGTGT	AF038007	CCDS11965.1	18q21	2010-04-28	2010-04-28		ENSG00000081923	ENSG00000081923		"""ATPases / P-type"""	3706	protein-coding gene	gene with protein product		602397	"""ATPase, Class I, type 8B, member 1"", ""ATPase, class I, type 8B, member 1"""	FIC1, BRIC, PFIC1		9500542, 7655458	Standard	NM_005603		Approved	ATPIC, PFIC	uc002lgw.3	O43520	OTTHUMG00000132739	ENST00000283684.4:c.1610T>C	chr18.hg19:g.55351288A>G	ENSP00000283684:p.Val537Ala	62.0	0.0		93.0	6.0	NM_005603	Q9BTP8	Missense_Mutation	SNP	ENST00000283684.4	hg19	CCDS11965.1	.	.	.	.	.	.	.	.	.	.	A	19.56	3.849782	0.71603	.	.	ENSG00000081923	ENST00000283684;ENST00000536015	T;T	0.70749	-0.51;-0.51	5.81	5.81	0.92471	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.115168	0.56097	D	0.000021	T	0.79417	0.4442	M	0.75264	2.295	0.80722	D	1	P	0.52170	0.951	P	0.53035	0.716	T	0.81304	-0.0993	10	0.54805	T	0.06	.	15.1467	0.72657	1.0:0.0:0.0:0.0	.	537	O43520	AT8B1_HUMAN	A	537	ENSP00000283684:V537A;ENSP00000445359:V537A	ENSP00000283684:V537A	V	-	2	0	ATP8B1	53502286	1.000000	0.71417	1.000000	0.80357	0.274000	0.26718	9.330000	0.96422	2.225000	0.72522	0.379000	0.24179	GTC	.	.		0.448	ATP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256097.1	NM_005603	
PTBP1	5725	hgsc.bcm.edu	37	19	810762	810762	+	Missense_Mutation	SNP	T	T	C			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr19:810762T>C	ENST00000349038.4	+	14	1605	c.1532T>C	c.(1531-1533)cTg>cCg	p.L511P	PTBP1_ENST00000350092.4_Missense_Mutation_p.L177P|MIR3187_ENST00000583431.1_RNA|PTBP1_ENST00000394601.4_Missense_Mutation_p.L530P|PTBP1_ENST00000356948.6_Missense_Mutation_p.L537P	NM_031991.3	NP_114368.1	P26599	PTBP1_HUMAN	polypyrimidine tract binding protein 1	511	RRM 4. {ECO:0000255|PROSITE- ProRule:PRU00176}.				alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|negative regulation of muscle cell differentiation (GO:0051148)|negative regulation of RNA splicing (GO:0033119)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly-pyrimidine tract binding (GO:0008187)|pre-mRNA binding (GO:0036002)|RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)	19		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;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		CTCATTGACCTGCACAACCAC	0.677																																					p.L537P		Atlas-SNP	.											.	PTBP1	43	.	0			c.T1610C						.						72.0	75.0	74.0					19																	810762		2203	4300	6503	SO:0001583	missense	5725	exon15			TTGACCTGCACAA	X60648	CCDS32859.1, CCDS42456.1, CCDS45892.1	19p13.3	2013-07-16	2002-01-25	2002-01-25	ENSG00000011304	ENSG00000011304		"""RNA binding motif (RRM) containing"""	9583	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein I"""	600693	"""polypyrimidine tract binding protein (heterogeneous nuclear ribonucleoprotein I)"""	PTB		1906036, 11024286	Standard	NM_002819		Approved	HNRPI, HNRNP-I, PTB2, PTB3, PTB-1, PTB4, pPTB	uc002lpp.2	P26599		ENST00000349038.4:c.1532T>C	chr19.hg19:g.810762T>C	ENSP00000014112:p.Leu511Pro	56.0	0.0		39.0	4.0	NM_002819	Q9BUQ0	Missense_Mutation	SNP	ENST00000349038.4	hg19	CCDS32859.1	.	.	.	.	.	.	.	.	.	.	T	25.9	4.687954	0.88639	.	.	ENSG00000011304	ENST00000356948;ENST00000394601;ENST00000349038;ENST00000350092	T;T;T;T	0.09911	2.93;2.99;2.93;2.93	5.38	5.38	0.77491	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.149797	0.47455	N	0.000239	T	0.42944	0.1225	M	0.92219	3.285	0.80722	D	1	D;D;D;D	0.89917	0.997;0.998;0.996;1.0	D;D;D;D	0.83275	0.996;0.994;0.986;0.996	T	0.55958	-0.8058	10	0.87932	D	0	-25.6391	14.5619	0.68144	0.0:0.0:0.0:1.0	.	177;511;530;537	A6NLN1;P26599;P26599-2;Q9BUQ0	.;PTBP1_HUMAN;.;.	P	537;530;511;177	ENSP00000349428:L537P;ENSP00000408096:L530P;ENSP00000014112:L511P;ENSP00000342332:L177P	ENSP00000014112:L511P	L	+	2	0	PTBP1	761762	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	5.952000	0.70282	2.027000	0.59764	0.533000	0.62120	CTG	.	.		0.677	PTBP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457605.1		
MED16	10025	hgsc.bcm.edu	37	19	868154	868154	+	Missense_Mutation	SNP	A	A	G	rs372252782		TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr19:868154A>G	ENST00000589119.1	-	15	2580	c.2581T>C	c.(2581-2583)Tct>Cct	p.S861P	MED16_ENST00000269814.4_3'UTR|MED16_ENST00000325464.1_Missense_Mutation_p.S861P|MED16_ENST00000312090.6_3'UTR|MED16_ENST00000395808.3_3'UTR			Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	861					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)		GTCCTGGGAGAGTGGTGTGTG	0.682																																					p.S861P		Atlas-SNP	.											.	MED16	61	.	0			c.T2581C						.		PRO/SER	0,4392		0,0,2196	43.0	40.0	41.0		2581	0.8	0.0	19		41	1,8593	805.8+/-407.3	0,1,4296	no	missense	MED16	NM_005481.2	74	0,1,6492	GG,GA,AA		0.0116,0.0,0.0077	benign	861/878	868154	1,12985	2196	4297	6493	SO:0001583	missense	10025	exon16			TGGGAGAGTGGTG	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.2581T>C	chr19.hg19:g.868154A>G	ENSP00000464810:p.Ser861Pro	92.0	0.0		80.0	4.0	NM_005481	Q6PJT2|Q96AD4|Q96I35|Q9Y652	Missense_Mutation	SNP	ENST00000589119.1	hg19	CCDS12047.1	.	.	.	.	.	.	.	.	.	.	g	0.007	-2.001328	0.00431	0.0	1.16E-4	ENSG00000175221	ENST00000325464	T	0.34072	1.38	0.84	0.84	0.18912	.	.	.	.	.	T	0.12902	0.0313	N	0.08118	0	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.32188	-0.9916	9	0.02654	T	1	.	3.3086	0.07009	0.3106:0.0:0.6894:0.0	.	861	Q9Y2X0	MED16_HUMAN	P	861	ENSP00000325612:S861P	ENSP00000325612:S861P	S	-	1	0	MED16	819154	0.000000	0.05858	0.002000	0.10522	0.018000	0.09664	0.115000	0.15540	-0.052000	0.13311	-0.370000	0.07254	TCT	.	.		0.682	MED16-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457902.3	NM_005481	
SBNO2	22904	hgsc.bcm.edu	37	19	1104930	1104930	+	IGR	SNP	T	T	C			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr19:1104930T>C	ENST00000361757.3	-	0	4922				GPX4_ENST00000589115.1_Intron|GPX4_ENST00000354171.8_Intron	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)						bone mineralization (GO:0030282)|bone trabecula morphogenesis (GO:0061430)|macrophage activation involved in immune response (GO:0002281)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoclast fusion (GO:0072675)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of inflammatory response (GO:0050727)|transcription, DNA-templated (GO:0006351)					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		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)		CAGGACCCGGTGCGCGCGGGG	0.682																																					.		Atlas-SNP	.											.	GPX4	9	.	0			c.195+2T>C						.						6.0	9.0	8.0					19																	1104930		1705	3878	5583	SO:0001628	intergenic_variant	2879	exon1			ACCCGGTGCGCGC	AK074102	CCDS45894.1, CCDS45895.1	19p13.3	2008-02-05	2006-10-06	2006-10-06		ENSG00000064932			29158	protein-coding gene	gene with protein product		615729	"""KIAA0963"""	KIAA0963		10231032	Standard	NM_014963		Approved	FLJ00173, Stno, Sno	uc002lrk.4	Q9Y2G9			chr19.hg19:g.1104930T>C		93.0	0.0		88.0	4.0	NM_001039848	A8K8P2|B3KWJ1|O75257|Q3KQX0|Q8TEM0	Splice_Site	SNP	ENST00000361757.3	hg19	CCDS45894.1																																																																																			.	.		0.682	SBNO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458065.2	NM_014963	
RAX2	84839	hgsc.bcm.edu	37	19	3771558	3771558	+	Silent	SNP	T	T	C			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr19:3771558T>C	ENST00000555633.1	-	2	523	c.183A>G	c.(181-183)gcA>gcG	p.A61A	RAX2_ENST00000555978.1_Silent_p.A61A			Q96IS3	RAX2_HUMAN	retina and anterior neural fold homeobox 2	61					regulation of transcription, DNA-templated (GO:0006355)|response to stimulus (GO:0050896)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			large_intestine(1)	1		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00463)|STAD - Stomach adenocarcinoma(1328;0.18)		GCACCTTGGCTGCCAGCTCCT	0.627																																					p.A61A		Atlas-SNP	.											.	RAX2	4	.	0			c.A183G						.						61.0	47.0	52.0					19																	3771558		2198	4296	6494	SO:0001819	synonymous_variant	84839	exon2			CTTGGCTGCCAGC	AY211277	CCDS12112.1	19p13.3	2013-06-06	2007-08-28	2007-08-28				"""Homeoboxes / PRD class"""	18286	protein-coding gene	gene with protein product		610362	"""retina and anterior neural fold homeobox like 1"""	RAXL1			Standard	NM_032753		Approved	MGC15631, ARMD6, CORD11	uc002lys.3	Q96IS3		ENST00000555633.1:c.183A>G	chr19.hg19:g.3771558T>C		62.0	0.0		76.0	4.0	NM_032753		Silent	SNP	ENST00000555633.1	hg19	CCDS12112.1	.	.	.	.	.	.	.	.	.	.	T	11.56	1.676507	0.29783	.	.	ENSG00000173976	ENST00000555978	.	.	.	3.52	-7.04	0.01578	.	.	.	.	.	T	0.34948	0.0915	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.36939	-0.9727	4	.	.	.	.	1.7359	0.02941	0.175:0.1269:0.2512:0.4469	.	.	.	.	G	81	.	.	S	-	1	0	RAX2	3722558	0.350000	0.24878	0.768000	0.31515	0.967000	0.64934	-0.415000	0.07106	-1.728000	0.01366	-1.067000	0.02272	AGC	.	.		0.627	RAX2-001	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411919.2	NM_032753	
PLIN4	729359	hgsc.bcm.edu	37	19	4510594	4510594	+	Silent	SNP	C	C	T	rs558381075		TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr19:4510594C>T	ENST00000301286.3	-	3	3335	c.3336G>A	c.(3334-3336)ggG>ggA	p.G1112G		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	1112						cytoplasm (GO:0005737)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						CTGGGGCGGCCCCTTGGGTGA	0.677																																					p.G1112G		Atlas-SNP	.											.	PLIN4	191	.	0			c.G3336A						.						29.0	34.0	32.0					19																	4510594		2147	4239	6386	SO:0001819	synonymous_variant	729359	exon3			GGCGGCCCCTTGG	AB067468	CCDS45927.1	19p13.3	2009-10-06	2009-08-12	2009-08-12	ENSG00000167676	ENSG00000167676		"""Perilipins"""	29393	protein-coding gene	gene with protein product		613247	"""KIAA1881"""	KIAA1881		11572484, 19638644	Standard	NM_001080400		Approved	S3-12	uc002mar.1	Q96Q06	OTTHUMG00000167571	ENST00000301286.3:c.3336G>A	chr19.hg19:g.4510594C>T		104.0	0.0		89.0	27.0	NM_001080400	A6NEI2	Silent	SNP	ENST00000301286.3	hg19	CCDS45927.1																																																																																			.	.		0.677	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395095.1	XM_170901	
EMR1	2015	hgsc.bcm.edu	37	19	6921786	6921786	+	Silent	SNP	A	A	G			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr19:6921786A>G	ENST00000312053.4	+	14	1720	c.1683A>G	c.(1681-1683)agA>agG	p.R561R	EMR1_ENST00000250572.8_Silent_p.R561R|EMR1_ENST00000381404.4_Silent_p.R509R|EMR1_ENST00000381407.5_Silent_p.R420R|EMR1_ENST00000450315.3_Silent_p.R384R	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	561	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.|Ser/Thr-rich.				cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					AGGGTGGAAGATGGACATCCT	0.443																																					p.R561R		Atlas-SNP	.											.	EMR1	153	.	0			c.A1683G						.						129.0	114.0	119.0					19																	6921786		2203	4300	6503	SO:0001819	synonymous_variant	2015	exon14			TGGAAGATGGACA	X81479	CCDS12175.1, CCDS58643.1, CCDS58644.1, CCDS58645.1, CCDS58646.1	19p13.3	2014-08-08	2003-11-26					"""-"", ""GPCR / Class B : Orphans"""	3336	protein-coding gene	gene with protein product		600493	"""egf-like module containing, mucin-like, hormone receptor-like sequence 1"""	TM7LN3		7601460, 9500513	Standard	NM_001974		Approved		uc002mfw.4	Q14246		ENST00000312053.4:c.1683A>G	chr19.hg19:g.6921786A>G		111.0	0.0		96.0	4.0	NM_001256253	A6NHV2|B7Z486|B7Z489|E7EPX9|E9PD45|H9KV79|Q2I7G5|Q6ZMN0|Q8NGA7	Silent	SNP	ENST00000312053.4	hg19	CCDS12175.1																																																																																			.	.		0.443	EMR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458485.1		
ZNF266	10781	hgsc.bcm.edu	37	19	9528560	9528560	+	Missense_Mutation	SNP	A	A	G			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr19:9528560A>G	ENST00000592904.1	-	3	2135	c.59T>C	c.(58-60)cTg>cCg	p.L20P	ZNF266_ENST00000588933.1_Missense_Mutation_p.L20P|ZNF266_ENST00000361451.2_Missense_Mutation_p.L20P|ZNF266_ENST00000590306.1_Missense_Mutation_p.L20P|ZNF266_ENST00000592292.1_Missense_Mutation_p.L20P|ZNF266_ENST00000588221.1_Missense_Mutation_p.L20P|ZNF266_ENST00000361151.1_Missense_Mutation_p.L20P			Q14584	ZN266_HUMAN	zinc finger protein 266	20	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)			NS(1)|breast(2)|endometrium(2)|large_intestine(11)|lung(8)|ovary(1)|skin(2)|stomach(1)	28						CCAAGAGATCAGACTGGGTTT	0.443																																					p.L20P		Atlas-SNP	.											.	ZNF266	65	.	0			c.T59C						.						186.0	179.0	182.0					19																	9528560		2203	4300	6503	SO:0001583	missense	10781	exon9			GAGATCAGACTGG	X78924	CCDS12213.1	19p13.2	2013-01-08				ENSG00000174652		"""Zinc fingers, C2H2-type"""	13059	protein-coding gene	gene with protein product		604751				7865130	Standard	NM_006631		Approved	HZF1	uc002mlo.4	Q14584		ENST00000592904.1:c.59T>C	chr19.hg19:g.9528560A>G	ENSP00000466714:p.Leu20Pro	96.0	0.0		91.0	4.0	NM_001271314	A0AV90|A4FU85|Q6IQ07|Q6U8A5|Q8IVG3|Q8WVX1|Q96SX9	Missense_Mutation	SNP	ENST00000592904.1	hg19	CCDS12213.1	.	.	.	.	.	.	.	.	.	.	A	18.57	3.653605	0.67472	.	.	ENSG00000174652	ENST00000361451;ENST00000361151	T;T	0.00976	5.48;5.48	2.41	2.41	0.29592	Krueppel-associated box (2);	.	.	.	.	T	0.04092	0.0114	M	0.78049	2.395	0.09310	N	0.999999	D	0.89917	1.0	D	0.71656	0.974	T	0.27905	-1.0060	9	0.72032	D	0.01	.	6.7472	0.23468	1.0:0.0:0.0:0.0	.	20	Q14584	ZN266_HUMAN	P	20	ENSP00000354680:L20P;ENSP00000355047:L20P	ENSP00000355047:L20P	L	-	2	0	ZNF266	9389560	0.024000	0.19004	0.004000	0.12327	0.978000	0.69477	2.988000	0.49386	1.357000	0.45904	0.482000	0.46254	CTG	.	.		0.443	ZNF266-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449033.1		
DNM2	1785	hgsc.bcm.edu	37	19	10906847	10906847	+	Missense_Mutation	SNP	T	T	G			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr19:10906847T>G	ENST00000355667.6	+	10	1387	c.1307T>G	c.(1306-1308)aTc>aGc	p.I436S	DNM2_ENST00000359692.6_Missense_Mutation_p.I436S|DNM2_ENST00000408974.4_Intron|DNM2_ENST00000314646.5_Intron|DNM2_ENST00000585892.1_Missense_Mutation_p.I436S|DNM2_ENST00000389253.4_Intron	NM_001005360.2|NM_001190716.1	NP_001005360.1|NP_001177645.1	P50570	DYN2_HUMAN	dynamin 2	436					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|endocytosis (GO:0006897)|G2/M transition of mitotic cell cycle (GO:0000086)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|nitric oxide metabolic process (GO:0046209)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic vesicle transport (GO:0048489)|transferrin transport (GO:0033572)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	enzyme binding (GO:0019899)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|microtubule binding (GO:0008017)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			CAGGAGCTAATCAATACAGTT	0.532			"""F, N, Splice, Mis, O"""		ETP ALL																																p.I436S		Atlas-SNP	.		Rec	yes		19	19p13.2	1785	dynamin 2		L	.	DNM2	175	.	0			c.T1307G						.						169.0	151.0	157.0					19																	10906847		2203	4300	6503	SO:0001583	missense	1785	exon10			AGCTAATCAATAC		CCDS32907.1, CCDS32908.1, CCDS45968.1, CCDS45969.1, CCDS59351.1	19p	2014-09-17						"""Pleckstrin homology (PH) domain containing"""	2974	protein-coding gene	gene with protein product	"""dynamin II"", ""cytoskeletal protein"""	602378				7590285, 9143510	Standard	NM_001190716		Approved	DYNII, DYN2, CMTDIB, CMTDI1, DI-CMTB	uc002mps.2	P50570		ENST00000355667.6:c.1307T>G	chr19.hg19:g.10906847T>G	ENSP00000347890:p.Ile436Ser	162.0	0.0		138.0	42.0	NM_004945	A8K1B6|E7EV30|E9PEQ4|K7ESI9|Q5I0Y0|Q7Z5S3|Q9UPH4	Missense_Mutation	SNP	ENST00000355667.6	hg19	CCDS45968.1	.	.	.	.	.	.	.	.	.	.	T	14.24	2.476612	0.44044	.	.	ENSG00000079805	ENST00000355667;ENST00000359692	T;T	0.72505	-0.66;-0.66	4.59	4.59	0.56863	Dynamin central domain (1);Pleckstrin homology-type (1);	.	.	.	.	T	0.68007	0.2954	L	0.42487	1.325	0.80722	D	1	B;B	0.25521	0.128;0.004	B;B	0.38378	0.272;0.026	T	0.65022	-0.6269	9	0.33141	T	0.24	.	12.9716	0.58515	0.0:0.0:0.0:1.0	.	436;436	P50570-2;P50570	.;DYN2_HUMAN	S	436	ENSP00000347890:I436S;ENSP00000352721:I436S	ENSP00000347890:I436S	I	+	2	0	DNM2	10767847	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.268000	0.72552	1.709000	0.51313	0.459000	0.35465	ATC	.	.		0.532	DNM2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452592.1	NM_004945	
PIK3R2	5296	hgsc.bcm.edu	37	19	18279290	18279290	+	Missense_Mutation	SNP	T	T	C			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr19:18279290T>C	ENST00000593731.1	+	14	2302	c.1742T>C	c.(1741-1743)cTc>cCc	p.L581P	PIK3R2_ENST00000222254.8_Missense_Mutation_p.L581P			O00459	P85B_HUMAN	phosphoinositide-3-kinase, regulatory subunit 2 (beta)	581					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)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)	phosphatidylinositol 3-kinase regulator activity (GO:0035014)|receptor tyrosine kinase binding (GO:0030971)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24					Isoprenaline(DB01064)	ctcaggtggctcacccagaaa	0.597											OREG0025359	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.L581P		Atlas-SNP	.											.	PIK3R2	48	.	0			c.T1742C						.						35.0	36.0	36.0					19																	18279290		2203	4300	6503	SO:0001583	missense	5296	exon14			GGTGGCTCACCCA		CCDS12371.1	19p13.11	2013-03-28	2008-02-04		ENSG00000105647	ENSG00000105647		"""SH2 domain containing"""	8980	protein-coding gene	gene with protein product		603157				1314371	Standard	NM_005027		Approved	P85B, p85	uc002nia.2	O00459	OTTHUMG00000183383	ENST00000593731.1:c.1742T>C	chr19.hg19:g.18279290T>C	ENSP00000471914:p.Leu581Pro	53.0	0.0	724	54.0	5.0	NM_005027	Q5EAT5|Q9UPH9	Missense_Mutation	SNP	ENST00000593731.1	hg19	CCDS12371.1	.	.	.	.	.	.	.	.	.	.	T	19.09	3.760585	0.69763	.	.	ENSG00000105647	ENST00000222254	T	0.37915	1.17	3.5	3.5	0.40072	.	0.173720	0.38778	N	0.001571	T	0.60051	0.2239	M	0.88842	2.985	0.80722	D	1	D	0.76494	0.999	D	0.63283	0.913	T	0.67654	-0.5615	10	0.87932	D	0	-26.9665	10.4366	0.44439	0.0:0.0:0.0:1.0	.	581	O00459	P85B_HUMAN	P	581	ENSP00000222254:L581P	ENSP00000222254:L581P	L	+	2	0	PIK3R2	18140290	1.000000	0.71417	0.998000	0.56505	0.821000	0.46438	6.768000	0.74980	1.555000	0.49500	0.254000	0.18369	CTC	.	.		0.597	PIK3R2-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000466386.2	NM_005027	
KMT2B	9757	hgsc.bcm.edu	37	19	36210419	36210419	+	Missense_Mutation	SNP	C	C	T	rs567944243		TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr19:36210419C>T	ENST00000222270.7	+	2	412	c.412C>T	c.(412-414)Cgc>Tgc	p.R138C	KMT2B_ENST00000341701.1_Missense_Mutation_p.R138C|KMT2B_ENST00000420124.1_Missense_Mutation_p.R138C|KMT2B_ENST00000607650.1_RNA	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	138					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)										CAGTTCCCTGCGCTCTGCGCT	0.567													C|||	1	0.000199681	0.0	0.0	5008	,	,		18239	0.001		0.0	False		,,,				2504	0.0				p.R138C		Atlas-SNP	.											.	MLL4	229	.	0			c.C412T						.						58.0	58.0	58.0					19																	36210419		1932	4135	6067	SO:0001583	missense	8085	exon2			TCCCTGCGCTCTG	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.412C>T	chr19.hg19:g.36210419C>T	ENSP00000222270:p.Arg138Cys	68.0	0.0		51.0	4.0	NM_014727	O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Missense_Mutation	SNP	ENST00000222270.7	hg19	CCDS46055.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.964494	0.74131	.	.	ENSG00000105663	ENST00000222270;ENST00000420124;ENST00000341701	D;D;T	0.90732	-2.72;-2.72;0.0	5.35	5.35	0.76521	.	0.000000	0.42548	D	0.000687	D	0.90920	0.7146	N	0.14661	0.345	0.51233	D	0.999912	D	0.89917	1.0	D	0.77557	0.99	D	0.92801	0.6256	10	0.87932	D	0	.	16.5535	0.84478	0.0:1.0:0.0:0.0	.	138	Q9UMN6	MLL4_HUMAN	C	138	ENSP00000222270:R138C;ENSP00000398837:R138C;ENSP00000345761:R138C	ENSP00000222270:R138C	R	+	1	0	AD000671.1	40902259	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.185000	0.58330	2.516000	0.84829	0.561000	0.74099	CGC	.	.		0.567	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014727	
ZNF829	374899	hgsc.bcm.edu	37	19	37383205	37383205	+	Missense_Mutation	SNP	T	T	C			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr19:37383205T>C	ENST00000391711.3	-	6	852	c.488A>G	c.(487-489)aAg>aGg	p.K163R	ZNF345_ENST00000432005.2_Intron|ZNF829_ENST00000520965.1_Missense_Mutation_p.K244R|ZNF345_ENST00000526123.1_Intron	NM_001037232.3	NP_001032309.2	Q3KNS6	ZN829_HUMAN	zinc finger protein 829	163					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(1)|large_intestine(11)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ATTAAAGGTCTTTCCACATAT	0.368																																					p.K244R		Atlas-SNP	.											.	ZNF829	70	.	0			c.A731G						.						75.0	68.0	70.0					19																	37383205		1984	4186	6170	SO:0001583	missense	374899	exon6			AAGGTCTTTCCAC	BC107131	CCDS42557.1, CCDS59380.1	19q13.12	2013-01-08			ENSG00000185869	ENSG00000185869		"""Zinc fingers, C2H2-type"", ""-"""	34032	protein-coding gene	gene with protein product							Standard	NM_001037232		Approved	DKFZp779O175	uc021utr.1	Q3KNS6	OTTHUMG00000048161	ENST00000391711.3:c.488A>G	chr19.hg19:g.37383205T>C	ENSP00000429266:p.Lys163Arg	59.0	0.0		60.0	4.0	NM_001171979	Q3KNS7|Q6ZNN0|Q7Z657	Missense_Mutation	SNP	ENST00000391711.3	hg19	CCDS42557.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.948851	0.73787	.	.	ENSG00000185869	ENST00000520965;ENST00000391711	T	0.58060	0.36	3.18	3.18	0.36537	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.52757	0.1754	L	0.46885	1.475	0.27099	N	0.962655	P	0.46621	0.881	P	0.47864	0.559	T	0.48375	-0.9041	9	0.66056	D	0.02	.	11.3524	0.49596	0.0:0.0:0.0:1.0	.	163	Q3KNS6	ZN829_HUMAN	R	163	ENSP00000429266:K163R	ENSP00000429266:K163R	K	-	2	0	ZNF829	42075045	0.306000	0.24490	0.943000	0.38184	0.993000	0.82548	2.730000	0.47335	1.693000	0.51124	0.528000	0.53228	AAG	.	.		0.368	ZNF829-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109575.3	NM_001037232	
ZNF404	342908	hgsc.bcm.edu	37	19	44384170	44384170	+	Missense_Mutation	SNP	A	A	G			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr19:44384170A>G	ENST00000587539.1	-	2	127	c.128T>C	c.(127-129)gTc>gCc	p.V43A	ZNF404_ENST00000588094.1_5'Flank|ZNF404_ENST00000324394.6_Missense_Mutation_p.V41A	NM_001033719.2	NP_001028891.2	Q494X3	ZN404_HUMAN	zinc finger protein 404	43	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)			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|stomach(2)|urinary_tract(1)	17		Prostate(69;0.0352)				ACCCAATGAGACCAAGTTAGT	0.383																																					p.V40A		Atlas-SNP	.											.	ZNF404	46	.	0			c.T119C						.						176.0	187.0	183.0					19																	44384170		2186	4293	6479	SO:0001583	missense	342908	exon1			AATGAGACCAAGT	XM_092027	CCDS59394.1	19q13.31	2013-01-08				ENSG00000176222		"""Zinc fingers, C2H2-type"", ""-"""	19417	protein-coding gene	gene with protein product							Standard	NM_001033719		Approved		uc002oxs.5	Q494X3		ENST00000587539.1:c.128T>C	chr19.hg19:g.44384170A>G	ENSP00000466051:p.Val43Ala	76.0	0.0		92.0	4.0	NM_001033719	A4FU30|K7ELF2	Missense_Mutation	SNP	ENST00000587539.1	hg19	CCDS59394.1	.	.	.	.	.	.	.	.	.	.	A	8.638	0.895377	0.17613	.	.	ENSG00000176222	ENST00000324394	T	0.02140	4.43	1.85	0.821	0.18799	Krueppel-associated box (4);	.	.	.	.	T	0.03011	0.0089	M	0.67569	2.06	0.20638	N	0.999877	B	0.12630	0.006	B	0.16289	0.015	T	0.41466	-0.9507	9	0.33940	T	0.23	.	4.1478	0.10224	0.6373:0.0:0.3627:0.0	.	43	Q494X3	ZN404_HUMAN	A	41	ENSP00000319479:V41A	ENSP00000319479:V41A	V	-	2	0	ZNF404	49076010	0.000000	0.05858	0.679000	0.29978	0.988000	0.76386	-0.075000	0.11431	0.214000	0.20742	0.410000	0.27636	GTC	.	.		0.383	ZNF404-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460019.1	NM_001033719	
ZNF112	7771	hgsc.bcm.edu	37	19	44831614	44831614	+	Missense_Mutation	SNP	T	T	C			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr19:44831614T>C	ENST00000337401.4	-	5	2802	c.2714A>G	c.(2713-2715)cAc>cGc	p.H905R	ZNF112_ENST00000354340.4_Missense_Mutation_p.H899R|ZNF112_ENST00000536500.1_Missense_Mutation_p.H922R	NM_001083335.1	NP_001076804.1	Q9UJU3	ZN112_HUMAN	zinc finger protein 112	905					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										TTCATTTCTGTGTAGATTCTC	0.343																																					p.H905R		Atlas-SNP	.											.	ZFP112	219	.	0			c.A2714G						.						51.0	50.0	51.0					19																	44831614		2203	4299	6502	SO:0001583	missense	7771	exon5			TTTCTGTGTAGAT	AF198358		19q13.2	2014-02-06	2012-11-27		ENSG00000062370	ENSG00000062370		"""Zinc fingers, C2H2-type"""	12892	protein-coding gene	gene with protein product		603994	"""zinc finger protein 112 homolog (mouse)"", ""zinc finger protein 228"""	ZFP112, ZNF228			Standard	NM_013380		Approved			Q9UJU3	OTTHUMG00000182357	ENST00000337401.4:c.2714A>G	chr19.hg19:g.44831614T>C	ENSP00000337081:p.His905Arg	79.0	0.0		58.0	4.0	NM_001083335	A4FU53|Q9HCA7	Missense_Mutation	SNP	ENST00000337401.4	hg19	CCDS54276.1	.	.	.	.	.	.	.	.	.	.	T	3.556	-0.090586	0.07053	.	.	ENSG00000062370	ENST00000337401;ENST00000412927;ENST00000354340;ENST00000536500;ENST00000253426	T;T;T	0.05199	3.48;3.48;3.49	4.74	1.15	0.20763	.	0.473653	0.15676	N	0.250140	T	0.02380	0.0073	N	0.03967	-0.31	0.09310	N	1	B;B;B	0.18741	0.017;0.03;0.017	B;B;B	0.10450	0.002;0.005;0.002	T	0.45789	-0.9237	10	0.25106	T	0.35	0.0431	4.3488	0.11146	0.1489:0.1949:0.0:0.6563	.	904;922;905	B4DYT4;F5GWS7;Q9UJU3	.;.;ZF112_HUMAN	R	905;905;899;922;904	ENSP00000337081:H905R;ENSP00000346305:H899R;ENSP00000441990:H922R	ENSP00000253426:H904R	H	-	2	0	ZNF285	49523454	0.005000	0.15991	0.022000	0.16811	0.979000	0.70002	1.614000	0.36911	0.410000	0.25675	0.460000	0.39030	CAC	.	.		0.343	ZNF112-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460744.1	NM_013380	
CLPTM1	1209	hgsc.bcm.edu	37	19	45488528	45488528	+	Silent	SNP	A	A	G			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr19:45488528A>G	ENST00000337392.5	+	6	789	c.639A>G	c.(637-639)acA>acG	p.T213T	CLPTM1_ENST00000541297.2_Silent_p.T199T|CLPTM1_ENST00000546079.1_Silent_p.T111T|CLPTM1_ENST00000589158.1_3'UTR	NM_001282175.1|NM_001282176.1|NM_001294.2	NP_001269104.1|NP_001269105.1|NP_001285.1	O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane protein 1	213					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of T cell differentiation in thymus (GO:0033081)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		ACCTGCTGACAGGAGAGACAG	0.537																																					p.T213T		Atlas-SNP	.											.	CLPTM1	109	.	0			c.A639G						.						102.0	96.0	98.0					19																	45488528		2203	4300	6503	SO:0001819	synonymous_variant	1209	exon6			GCTGACAGGAGAG	AF037339	CCDS12651.1, CCDS74394.1, CCDS74395.1	19q13.3	2008-02-05				ENSG00000104853			2087	protein-coding gene	gene with protein product		604783				9828125	Standard	NM_001294		Approved		uc002pai.3	O96005		ENST00000337392.5:c.639A>G	chr19.hg19:g.45488528A>G		80.0	0.0		75.0	34.0	NM_001294	B3KQH2|B4DDS3|B4E2X9|B7Z9X9|F5H8J3|Q53ET6|Q9BSS5	Silent	SNP	ENST00000337392.5	hg19	CCDS12651.1																																																																																			.	.		0.537	CLPTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453267.1	NM_001294	
CD3EAP	10849	hgsc.bcm.edu	37	19	45912491	45912492	+	Missense_Mutation	DNP	AG	AG	CC	rs374686338|rs35729377		TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A|G	A|G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr19:45912491_45912492AG>CC	ENST00000309424.3	+	3	1753_1754	c.1265_1266AG>CC	c.(1264-1266)aAG>aCC	p.K422T	PPP1R13L_ENST00000418234.2_5'Flank|ERCC1_ENST00000423698.2_3'UTR|ERCC1_ENST00000300853.3_3'UTR|CD3EAP_ENST00000589804.1_Missense_Mutation_p.K424T|ERCC1_ENST00000588738.1_5'Flank	NM_012099.1	NP_036231.1	O15446	RPA34_HUMAN	CD3e molecule, epsilon associated protein	422	Poly-Lys.			Missing (in Ref. 3; AAI08890). {ECO:0000305}.	rRNA transcription (GO:0009303)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|RNA polymerase I transcription factor complex (GO:0000120)	DNA-directed RNA polymerase activity (GO:0003899)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0251)		ACATCCACCaagaagaagaaga	0.554																																					p.K422T|p.K422N		Atlas-SNP	.											.	CD3EAP	27	.	0			c.A1265C|c.G1266C						.																																			SO:0001583	missense	10849	exon3			CCACCAAGAAGAA|CACCAAGAAGAAG	U86751	CCDS12661.1, CCDS74397.1	19q13.3	2008-02-05	2006-03-28			ENSG00000117877			24219	protein-coding gene	gene with protein product	"""CD3 epsilon associated protein"", ""antisense to ERCC 1"""	107325	"""CD3e antigen, epsilon polypeptide associated protein"""			10373416, 9426281, 15226435	Standard	XM_005258425		Approved	ASE-1, CAST, PAF49	uc002pbq.1	O15446		Exception_encountered	chr19.hg19:g.45912491_45912492delinsCC	ENSP00000310966:p.Lys422Thr	51.0	0.0		47.0|50.0	4.0|6.0	NM_012099	Q32N11|Q7Z5U2|Q9UPF6	Missense_Mutation	SNP	ENST00000309424.3	hg19	CCDS12661.1																																																																																			.	.		0.554	CD3EAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459538.1	NM_012099	
SYMPK	8189	hgsc.bcm.edu	37	19	46319817	46319817	+	Missense_Mutation	SNP	A	A	G			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr19:46319817A>G	ENST00000245934.7	-	25	3521	c.3277T>C	c.(3277-3279)Tcc>Ccc	p.S1093P	RSPH6A_ENST00000597055.1_5'Flank|SYMPK_ENST00000598155.1_5'UTR|RSPH6A_ENST00000221538.3_5'Flank	NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	1093					cell adhesion (GO:0007155)|mRNA polyadenylation (GO:0006378)|positive regulation of protein dephosphorylation (GO:0035307)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		GTCATGATGGAGTTAGGGATG	0.667																																					p.S1093P		Atlas-SNP	.											.	SYMPK	104	.	0			c.T3277C						.						37.0	41.0	40.0					19																	46319817		2203	4300	6503	SO:0001583	missense	8189	exon25			TGATGGAGTTAGG	U49240	CCDS12676.2	19q13.3	2008-02-05			ENSG00000125755	ENSG00000125755			22935	protein-coding gene	gene with protein product		602388				9330635	Standard	NM_004819		Approved	SYM, SPK	uc002pdn.3	Q92797	OTTHUMG00000150151	ENST00000245934.7:c.3277T>C	chr19.hg19:g.46319817A>G	ENSP00000245934:p.Ser1093Pro	108.0	0.0		106.0	5.0	NM_004819	O00521|O00689|O00733|Q59GT5|Q8N2U5	Missense_Mutation	SNP	ENST00000245934.7	hg19	CCDS12676.2	.	.	.	.	.	.	.	.	.	.	A	17.35	3.368723	0.61624	.	.	ENSG00000125755	ENST00000245934	.	.	.	4.4	4.4	0.53042	.	0.000000	0.85682	D	0.000000	T	0.39462	0.1079	L	0.27053	0.805	0.53688	D	0.999979	P	0.39044	0.656	B	0.39339	0.297	T	0.32561	-0.9902	9	0.45353	T	0.12	.	9.9684	0.41738	1.0:0.0:0.0:0.0	.	1093	Q92797	SYMPK_HUMAN	P	1093	.	ENSP00000245934:S1093P	S	-	1	0	SYMPK	51011657	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.675000	0.84002	1.853000	0.53794	0.454000	0.30748	TCC	.	.		0.667	SYMPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316581.1	NM_004819	
IGFL1	374918	hgsc.bcm.edu	37	19	46733725	46733725	+	Missense_Mutation	SNP	A	A	G			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr19:46733725A>G	ENST00000437936.1	+	3	297	c.274A>G	c.(274-276)Aac>Gac	p.N92D	AC006262.10_ENST00000597337.1_RNA	NM_198541.1	NP_940943.1	Q6UW32	IGFL1_HUMAN	IGF-like family member 1	92						extracellular space (GO:0005615)				lung(5)	5		Ovarian(192;0.0731)|all_neural(266;0.196)		OV - Ovarian serous cystadenocarcinoma(262;0.00242)|all cancers(93;0.0132)|GBM - Glioblastoma multiforme(486;0.0294)|Epithelial(262;0.201)		GAAGCTGATAAACCAGAACTG	0.597																																					p.N92D		Atlas-SNP	.											.	IGFL1	10	.	0			c.A274G						.						115.0	116.0	116.0					19																	46733725		2049	4212	6261	SO:0001583	missense	374918	exon3			CTGATAAACCAGA	AY359013	CCDS46123.1	19q13.32	2010-06-15			ENSG00000188293	ENSG00000188293			24093	protein-coding gene	gene with protein product		610544				12975309	Standard	NM_198541		Approved	UNQ644	uc002pee.3	Q6UW32		ENST00000437936.1:c.274A>G	chr19.hg19:g.46733725A>G	ENSP00000415823:p.Asn92Asp	82.0	0.0		65.0	4.0	NM_198541		Missense_Mutation	SNP	ENST00000437936.1	hg19	CCDS46123.1	.	.	.	.	.	.	.	.	.	.	A	1.364	-0.587895	0.03799	.	.	ENSG00000188293	ENST00000437936	T	0.23348	1.91	2.61	-1.13	0.09775	.	2.589850	0.02370	N	0.077809	T	0.09069	0.0224	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.23511	-1.0186	10	0.09590	T	0.72	-6.8682	5.3976	0.16278	0.4223:0.0:0.5777:0.0	.	92	Q6UW32	IGFL1_HUMAN	D	92	ENSP00000415823:N92D	ENSP00000415823:N92D	N	+	1	0	IGFL1	51425565	0.001000	0.12720	0.000000	0.03702	0.059000	0.15707	0.076000	0.14712	-0.114000	0.11936	-0.609000	0.04063	AAC	.	.		0.597	IGFL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461724.1	NM_198541	
CALM3	808	hgsc.bcm.edu	37	19	47111479	47111479	+	Silent	SNP	T	T	C			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr19:47111479T>C	ENST00000291295.9	+	3	259	c.60T>C	c.(58-60)ttT>ttC	p.F20F	CALM3_ENST00000597743.1_Silent_p.F20F|CALM3_ENST00000594523.1_5'UTR|CALM3_ENST00000477244.1_3'UTR|CALM3_ENST00000599839.1_5'UTR|CTB-12A17.3_ENST00000597609.1_RNA|CALM3_ENST00000391918.2_5'UTR|CALM3_ENST00000596362.1_Silent_p.F20F|CALM3_ENST00000598871.1_5'UTR	NM_005184.2	NP_005175.2	P62158	CALM_HUMAN	calmodulin 3 (phosphorylase kinase, delta)	20	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				activation of adenylate cyclase activity (GO:0007190)|activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|carbohydrate metabolic process (GO:0005975)|detection of calcium ion (GO:0005513)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nitric oxide metabolic process (GO:0046209)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cyclic nucleotide metabolic process (GO:0030801)|positive regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051343)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|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 cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of cytokinesis (GO:0032465)|regulation of heart rate (GO:0002027)|regulation of high voltage-gated calcium channel activity (GO:1901841)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to amphetamine (GO:0001975)|response to calcium ion (GO:0051592)|response to corticosterone (GO:0051412)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)|synaptic transmission (GO:0007268)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcomere (GO:0030017)|spindle microtubule (GO:0005876)|spindle pole (GO:0000922)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|N-terminal myristoylation domain binding (GO:0031997)|nitric-oxide synthase regulator activity (GO:0030235)|phospholipase binding (GO:0043274)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|protein phosphatase activator activity (GO:0072542)|protein serine/threonine kinase activator activity (GO:0043539)|thioesterase binding (GO:0031996)|titin binding (GO:0031432)			breast(1)|cervix(2)|endometrium(1)|lung(1)|ovary(1)	6		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000683)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0341)	Aprindine(DB01429)|Bepridil(DB01244)|Chlorpromazine(DB00477)|Cinchocaine(DB00527)|Felodipine(DB01023)|Flunarizine(DB04841)|Fluphenazine(DB00623)|Isoflurane(DB00753)|Loperamide(DB00836)|Melatonin(DB01065)|Nicardipine(DB00622)|Nifedipine(DB01115)|Perphenazine(DB00850)|Phenoxybenzamine(DB00925)|Pimozide(DB01100)|Promethazine(DB01069)|Trifluoperazine(DB00831)	TCTCCCTCTTTGACAAGGATG	0.542																																					p.F20F		Atlas-SNP	.											.	CALM3	9	.	0			c.T60C						.						82.0	70.0	74.0					19																	47111479		2203	4300	6503	SO:0001819	synonymous_variant	808	exon3			CCTCTTTGACAAG		CCDS33061.1	19q13.2-q13.3	2013-02-25			ENSG00000160014	ENSG00000160014		"""EF-hand domain containing"", ""Endogenous ligands"""	1449	protein-coding gene	gene with protein product	"""prepro-calmodulin 3"""	114183					Standard	NM_005184		Approved	PHKD	uc002pew.3	P62158	OTTHUMG00000133517	ENST00000291295.9:c.60T>C	chr19.hg19:g.47111479T>C		87.0	0.0		63.0	4.0	NM_005184	P02593|P70667|P99014|Q13942|Q53S29|Q61379|Q61380|Q96HK3	Silent	SNP	ENST00000291295.9	hg19	CCDS33061.1																																																																																			.	.		0.542	CALM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257483.2		
EHD2	30846	hgsc.bcm.edu	37	19	48219967	48219967	+	Missense_Mutation	SNP	T	T	A			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr19:48219967T>A	ENST00000263277.3	+	2	349	c.98T>A	c.(97-99)cTg>cAg	p.L33Q	CTD-2571L23.8_ENST00000599924.1_lincRNA|EHD2_ENST00000538399.1_Intron	NM_014601.3	NP_055416.2	Q9NZN4	EHD2_HUMAN	EH-domain containing 2	33					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)		CGCACGAAGCTGCTGCCGCTG	0.697																																					p.L33Q		Atlas-SNP	.											.	EHD2	59	.	0			c.T98A						.						29.0	24.0	26.0					19																	48219967		2202	4298	6500	SO:0001583	missense	30846	exon2			CGAAGCTGCTGCC	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.98T>A	chr19.hg19:g.48219967T>A	ENSP00000263277:p.Leu33Gln	178.0	0.0		135.0	37.0	NM_014601	B2RDH9|B4DNU6|Q96CB6	Missense_Mutation	SNP	ENST00000263277.3	hg19	CCDS12704.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.197260	0.79015	.	.	ENSG00000024422	ENST00000263277;ENST00000539439;ENST00000540364	T	0.25085	1.82	3.88	3.88	0.44766	.	0.000000	0.64402	D	0.000005	T	0.54208	0.1844	M	0.91612	3.225	0.80722	D	1	D	0.69078	0.997	D	0.64687	0.928	T	0.64487	-0.6396	10	0.87932	D	0	-22.9802	10.947	0.47306	0.0:0.0:0.0:1.0	.	33	Q9NZN4	EHD2_HUMAN	Q	33	ENSP00000263277:L33Q	ENSP00000263277:L33Q	L	+	2	0	EHD2	52911779	1.000000	0.71417	1.000000	0.80357	0.822000	0.46500	7.706000	0.84615	1.772000	0.52199	0.418000	0.28097	CTG	.	.		0.697	EHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465851.1		
SPHK2	56848	hgsc.bcm.edu	37	19	49132828	49132828	+	Missense_Mutation	SNP	A	A	G			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr19:49132828A>G	ENST00000245222.4	+	7	2129	c.1763A>G	c.(1762-1764)gAg>gGg	p.E588G	SPHK2_ENST00000598088.1_Missense_Mutation_p.E588G|SPHK2_ENST00000599029.1_Missense_Mutation_p.E552G|SPHK2_ENST00000443164.1_Missense_Mutation_p.E650G|SPHK2_ENST00000340932.3_Missense_Mutation_p.E550G|SPHK2_ENST00000599748.1_Missense_Mutation_p.E552G|SPHK2_ENST00000600537.1_Missense_Mutation_p.E529G	NM_001204158.2|NM_001243876.1|NM_020126.4	NP_001191087.1|NP_001230805.1|NP_064511.2	Q9NRA0	SPHK2_HUMAN	sphingosine kinase 2	588					blood vessel development (GO:0001568)|brain development (GO:0007420)|cell proliferation (GO:0008283)|lipid phosphorylation (GO:0046834)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|small molecule metabolic process (GO:0044281)|sphinganine-1-phosphate biosynthetic process (GO:0006669)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine metabolic process (GO:0006670)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	ATP binding (GO:0005524)|D-erythro-sphingosine kinase activity (GO:0017050)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)|Ras GTPase binding (GO:0017016)|sphinganine kinase activity (GO:0008481)			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		TTGGCCATGGAGCGTGGTAGC	0.697																																					p.E588G		Atlas-SNP	.											.	SPHK2	62	.	0			c.A1763G						.						18.0	16.0	17.0					19																	49132828		2192	4292	6484	SO:0001583	missense	56848	exon7			CCATGGAGCGTGG	AF245447	CCDS12727.1, CCDS59404.1, CCDS59405.1, CCDS74414.1	19q13.33	2013-09-20			ENSG00000063176	ENSG00000063176			18859	protein-coding gene	gene with protein product		607092				10751414, 17895250	Standard	NM_020126		Approved		uc002pjs.3	Q9NRA0	OTTHUMG00000183318	ENST00000245222.4:c.1763A>G	chr19.hg19:g.49132828A>G	ENSP00000245222:p.Glu588Gly	46.0	0.0		62.0	4.0	NM_020126	A0T4C8|B4DU87|Q9BRN1|Q9H0Q2|Q9NWU7	Missense_Mutation	SNP	ENST00000245222.4	hg19	CCDS12727.1	.	.	.	.	.	.	.	.	.	.	A	15.56	2.868940	0.51588	.	.	ENSG00000063176	ENST00000245222;ENST00000406269;ENST00000340932;ENST00000443164	T;T;T	0.13901	2.55;2.55;2.55	4.68	4.68	0.58851	.	0.000000	0.85682	D	0.000000	T	0.32255	0.0823	M	0.62016	1.91	0.44388	D	0.997294	D;B;B	0.89917	1.0;0.009;0.018	D;B;B	0.80764	0.994;0.006;0.01	T	0.01776	-1.1276	10	0.45353	T	0.12	-25.7613	12.3792	0.55297	1.0:0.0:0.0:0.0	.	529;650;588	B4DU87;A0T4C8;Q9NRA0	.;.;SPHK2_HUMAN	G	588;561;550;650	ENSP00000245222:E588G;ENSP00000341091:E550G;ENSP00000413369:E650G	ENSP00000245222:E588G	E	+	2	0	SPHK2	53824640	1.000000	0.71417	0.985000	0.45067	0.954000	0.61252	5.472000	0.66768	2.095000	0.63458	0.454000	0.30748	GAG	.	.		0.697	SPHK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466153.1		
HRC	3270	hgsc.bcm.edu	37	19	49657920	49657920	+	Missense_Mutation	SNP	C	C	T	rs200730671		TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr19:49657920C>T	ENST00000252825.4	-	1	761	c.575G>A	c.(574-576)gGa>gAa	p.G192E	HRC_ENST00000595625.1_Missense_Mutation_p.G192E	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	192	4 X tandem repeats, acidic.|6 X approximate tandem repeats.				cytosolic calcium ion homeostasis (GO:0051480)|muscle contraction (GO:0006936)|positive regulation of heart contraction (GO:0045823)|positive regulation of heart rate (GO:0010460)|positive regulation of relaxation of cardiac muscle (GO:1901899)|regulation of calcium ion transmembrane transport (GO:1903169)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		ctcctcttcTCCTTCATCATC	0.562																																					p.G192E	Melanoma(37;75 1097 24567 25669 30645)	Atlas-SNP	.											.	HRC	85	.	0			c.G575A						.						124.0	98.0	107.0					19																	49657920		2203	4300	6503	SO:0001583	missense	3270	exon1			TCTTCTCCTTCAT		CCDS12759.1	19q13.3	2008-07-16	2001-11-28			ENSG00000130528			5178	protein-coding gene	gene with protein product		142705	"""histidine-rich calcium-binding protein"""			2037293	Standard	XR_243928		Approved	MGC133236	uc002pmv.3	P23327		ENST00000252825.4:c.575G>A	chr19.hg19:g.49657920C>T	ENSP00000252825:p.Gly192Glu	150.0	0.0		137.0	7.0	NM_002152	Q504Y6	Missense_Mutation	SNP	ENST00000252825.4	hg19	CCDS12759.1	.	.	.	.	.	.	.	.	.	.	c	0.009	-1.835792	0.00579	.	.	ENSG00000130528	ENST00000252825;ENST00000434964	T	0.05717	3.4	2.59	-1.01	0.10169	.	.	.	.	.	T	0.02156	0.0067	N	0.03608	-0.345	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.46289	-0.9202	9	0.02654	T	1	4.5523	7.8184	0.29274	0.0:0.7009:0.0:0.2991	.	192	P23327	SRCH_HUMAN	E	192;162	ENSP00000252825:G192E	ENSP00000252825:G192E	G	-	2	0	HRC	54349732	0.005000	0.15991	0.001000	0.08648	0.082000	0.17680	-0.740000	0.04861	-0.145000	0.11294	-0.389000	0.06534	GGA	.	.		0.562	HRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465649.1	NM_002152	
ZNF320	162967	hgsc.bcm.edu	37	19	53384894	53384894	+	Missense_Mutation	SNP	T	T	C			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr19:53384894T>C	ENST00000595635.1	-	8	986	c.485A>G	c.(484-486)aAa>aGa	p.K162R	ZNF320_ENST00000597909.1_Intron|ZNF320_ENST00000600930.1_Intron|ZNF320_ENST00000391781.2_Missense_Mutation_p.K162R	NM_207333.2	NP_997216.2	A2RRD8	ZN320_HUMAN	zinc finger protein 320	162					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)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(134;0.0534)		TTCTTCACATTTGTAAGGTTT	0.363																																					p.K162R		Atlas-SNP	.											.	ZNF320	67	.	0			c.A485G						.						74.0	72.0	73.0					19																	53384894		2203	4300	6503	SO:0001583	missense	162967	exon4			TCACATTTGTAAG	AF086262	CCDS33095.1	19q13.41	2014-09-04			ENSG00000182986	ENSG00000182986		"""Zinc fingers, C2H2-type"", ""-"""	13842	protein-coding gene	gene with protein product		606427				11536051	Standard	XM_006723059		Approved	ZFPL, DKFZp686G16228	uc002qag.3	A2RRD8	OTTHUMG00000182797	ENST00000595635.1:c.485A>G	chr19.hg19:g.53384894T>C	ENSP00000473091:p.Lys162Arg	96.0	0.0		68.0	4.0	NM_207333	Q8NDR6	Missense_Mutation	SNP	ENST00000595635.1	hg19	CCDS33095.1	.	.	.	.	.	.	.	.	.	.	-	8.068	0.769560	0.15983	.	.	ENSG00000182986	ENST00000391781	T	0.03831	3.79	1.75	0.657	0.17850	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06416	0.0165	L	0.59436	1.845	0.09310	N	1	B	0.29432	0.244	B	0.35727	0.209	T	0.39440	-0.9614	9	0.46703	T	0.11	.	2.9814	0.05954	0.0:0.1661:0.2545:0.5794	.	162	A2RRD8	ZN320_HUMAN	R	162	ENSP00000375660:K162R	ENSP00000375660:K162R	K	-	2	0	ZNF320	58076706	0.000000	0.05858	0.000000	0.03702	0.120000	0.20174	-0.442000	0.06871	-0.011000	0.14247	0.165000	0.16767	AAA	.	.		0.363	ZNF320-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463771.1	NM_207333	
EPS8L1	54869	hgsc.bcm.edu	37	19	55591536	55591536	+	Missense_Mutation	SNP	T	T	C			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr19:55591536T>C	ENST00000201647.6	+	6	375	c.319T>C	c.(319-321)Tgt>Cgt	p.C107R	EPS8L1_ENST00000588359.1_5'Flank|EPS8L1_ENST00000540810.1_Missense_Mutation_p.C43R|EPS8L1_ENST00000586329.1_Missense_Mutation_p.C89R|EPS8L1_ENST00000592824.1_3'UTR|EPS8L1_ENST00000245618.5_5'Flank	NM_133180.2	NP_573441.2	Q8TE68	ES8L1_HUMAN	EPS8-like 1	107					positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of ruffle assembly (GO:1900029)|regulation of Rho protein signal transduction (GO:0035023)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|T cell receptor binding (GO:0042608)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		CATCGTGCGCTGTGACGCGGT	0.657																																					p.C107R	Ovarian(149;255 1863 3636 27051 29647)	Atlas-SNP	.											.	EPS8L1	122	.	0			c.T319C						.						11.0	9.0	10.0					19																	55591536		2111	4132	6243	SO:0001583	missense	54869	exon6			GTGCGCTGTGACG	AK057052	CCDS12914.1, CCDS12915.1	19q13.42	2008-02-05				ENSG00000131037			21295	protein-coding gene	gene with protein product		614987				12620401	Standard	NM_133180		Approved	FLJ20258, DRC3, MGC23164, MGC4642	uc002qis.4	Q8TE68		ENST00000201647.6:c.319T>C	chr19.hg19:g.55591536T>C	ENSP00000201647:p.Cys107Arg	55.0	0.0		70.0	4.0	NM_133180	Q71RE2|Q8NC10|Q96BB7|Q9BSQ2|Q9GZQ2|Q9NXH0	Missense_Mutation	SNP	ENST00000201647.6	hg19	CCDS12914.1	.	.	.	.	.	.	.	.	.	.	T	15.55	2.867061	0.51588	.	.	ENSG00000131037	ENST00000310075;ENST00000201647;ENST00000540810	T;T	0.34072	1.38;1.38	3.87	3.87	0.44632	Pleckstrin homology-type (1);Tensin phosphotyrosine-binding domain (1);	0.127967	0.53938	D	0.000060	T	0.55114	0.1900	M	0.68317	2.08	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;0.999;1.0	T	0.57596	-0.7784	10	0.59425	D	0.04	-28.4198	10.935	0.47241	0.0:0.0:0.0:1.0	.	43;89;107	B4DKV7;Q8TE68-3;Q8TE68	.;.;ES8L1_HUMAN	R	89;107;43	ENSP00000201647:C107R;ENSP00000437541:C43R	ENSP00000201647:C107R	C	+	1	0	EPS8L1	60283348	1.000000	0.71417	0.988000	0.46212	0.132000	0.20833	4.870000	0.63035	1.535000	0.49220	0.397000	0.26171	TGT	.	.		0.657	EPS8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451713.1	NM_017729	
EPS8L1	54869	hgsc.bcm.edu	37	19	55592800	55592800	+	Silent	SNP	C	C	A	rs146217963		TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr19:55592800C>A	ENST00000201647.6	+	8	770	c.714C>A	c.(712-714)gcC>gcA	p.A238A	EPS8L1_ENST00000588359.1_Intron|EPS8L1_ENST00000540810.1_Silent_p.A174A|EPS8L1_ENST00000586329.1_Silent_p.A220A|EPS8L1_ENST00000592824.1_3'UTR|EPS8L1_ENST00000245618.5_Silent_p.A111A	NM_133180.2	NP_573441.2	Q8TE68	ES8L1_HUMAN	EPS8-like 1	238					positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of ruffle assembly (GO:1900029)|regulation of Rho protein signal transduction (GO:0035023)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|T cell receptor binding (GO:0042608)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		CTGACTCGGCCTCCCCGGACC	0.741																																					p.A238A	Ovarian(149;255 1863 3636 27051 29647)	Atlas-SNP	.											.	EPS8L1	122	.	0			c.C714A						.						12.0	13.0	12.0					19																	55592800		2189	4283	6472	SO:0001819	synonymous_variant	54869	exon8			CTCGGCCTCCCCG	AK057052	CCDS12914.1, CCDS12915.1	19q13.42	2008-02-05				ENSG00000131037			21295	protein-coding gene	gene with protein product		614987				12620401	Standard	NM_133180		Approved	FLJ20258, DRC3, MGC23164, MGC4642	uc002qis.4	Q8TE68		ENST00000201647.6:c.714C>A	chr19.hg19:g.55592800C>A		88.0	0.0		95.0	38.0	NM_133180	Q71RE2|Q8NC10|Q96BB7|Q9BSQ2|Q9GZQ2|Q9NXH0	Silent	SNP	ENST00000201647.6	hg19	CCDS12914.1																																																																																			.	C|1.000;G|0.000		0.741	EPS8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451713.1	NM_017729	
HSPBP1	23640	hgsc.bcm.edu	37	19	55790905	55790905	+	Silent	SNP	T	T	G			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr19:55790905T>G	ENST00000255631.5	-	3	382	c.72A>C	c.(70-72)tcA>tcC	p.S24S	BRSK1_ENST00000590333.1_5'Flank|HSPBP1_ENST00000587922.1_Silent_p.S24S|HSPBP1_ENST00000376343.3_Silent_p.S24S|HSPBP1_ENST00000433386.2_Silent_p.S24S	NM_001130106.1|NM_012267.4	NP_001123578.1|NP_036399.3	Q9NZL4	HPBP1_HUMAN	HSPA (heat shock 70kDa) binding protein, cytoplasmic cochaperone 1	24	Gly-rich.				negative regulation of catalytic activity (GO:0043086)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein folding (GO:0006457)		enzyme inhibitor activity (GO:0004857)			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	8			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		CGCCGCCCCCTGAAGAGCAAC	0.697																																					p.S24S		Atlas-SNP	.											HSPBP1,NS,carcinoma,0,1	HSPBP1	24	.	0			c.A72C						.						7.0	10.0	9.0					19																	55790905		1698	3669	5367	SO:0001819	synonymous_variant	23640	exon2			GCCCCCTGAAGAG		CCDS33111.1	19q13.42	2008-12-16			ENSG00000133265	ENSG00000133265			24989	protein-coding gene	gene with protein product	"""hsp70 interacting protein"", ""Hsp70 binding protein 1"""	612939				10786638, 9830037	Standard	NM_001130106		Approved	HspBP1, FES1	uc002qkd.3	Q9NZL4		ENST00000255631.5:c.72A>C	chr19.hg19:g.55790905T>G		8.0	0.0		7.0	3.0	NM_012267	B3KQP0|B4DG11|O95351|Q6ZNU5	Silent	SNP	ENST00000255631.5	hg19	CCDS33111.1																																																																																			.	.		0.697	HSPBP1-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452670.1	NM_012267	
ZNF787	126208	hgsc.bcm.edu	37	19	56599440	56599440	+	Missense_Mutation	SNP	G	G	C	rs5828672|rs71696054	byFrequency	TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr19:56599440G>C	ENST00000270459.3	-	3	1219	c.1101C>G	c.(1099-1101)gaC>gaG	p.D367E		NM_001002836.2	NP_001002836	Q6DD87	ZN787_HUMAN	zinc finger protein 787	367					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(1)|lung(2)|pancreas(1)	5		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0559)		CCGCGGCCTCGTCGTCGTCGT	0.781																																					p.D367E		Atlas-SNP	.											.	ZNF787	20	.	0			c.C1101G						.						1.0	1.0	1.0					19																	56599440		975	2269	3244	SO:0001583	missense	126208	exon3			GGCCTCGTCGTCG	BC077728, AF000560	CCDS42634.1	19q13.42	2013-01-08				ENSG00000142409		"""Zinc fingers, C2H2-type"""	26998	protein-coding gene	gene with protein product							Standard	NM_001002836		Approved		uc010eth.1	Q6DD87		ENST00000270459.3:c.1101C>G	chr19.hg19:g.56599440G>C	ENSP00000270459:p.Asp367Glu	2.0	0.0		5.0	5.0	NM_001002836	O00455	Missense_Mutation	SNP	ENST00000270459.3	hg19	CCDS42634.1	.	.	.	.	.	.	.	.	.	.	g	0.250	-1.007020	0.02112	.	.	ENSG00000142409	ENST00000270459	T	0.06687	3.27	3.12	-3.97	0.04094	.	.	.	.	.	T	0.05868	0.0153	N	0.19112	0.55	0.09310	N	0.999997	.	.	.	.	.	.	T	0.42103	-0.9471	7	0.59425	D	0.04	-5.5942	6.3674	0.21463	0.2259:0.5191:0.2551:0.0	.	.	.	.	E	367	ENSP00000270459:D367E	ENSP00000270459:D367E	D	-	3	2	ZNF787	61291252	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-4.144000	0.00286	-0.645000	0.05458	-0.742000	0.03525	GAC	.	.		0.781	ZNF787-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457498.1	NM_001002836	
ZNF582	147948	hgsc.bcm.edu	37	19	56896375	56896375	+	Silent	SNP	T	T	C			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr19:56896375T>C	ENST00000301310.4	-	5	569	c.411A>G	c.(409-411)agA>agG	p.R137R	AC006116.12_ENST00000589671.1_RNA|ZNF582_ENST00000586929.1_Silent_p.R137R	NM_144690.1	NP_653291.1	Q96NG8	ZN582_HUMAN	zinc finger protein 582	137					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)		GATGGAAATGTCTGTCTGGAT	0.383																																					p.R137R	Ovarian(183;1887 2032 4349 30507 51343)	Atlas-SNP	.											.	ZNF582	56	.	0			c.A411G						.						163.0	161.0	162.0					19																	56896375		2203	4300	6503	SO:0001819	synonymous_variant	147948	exon5			GAAATGTCTGTCT	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.411A>G	chr19.hg19:g.56896375T>C		112.0	0.0		96.0	4.0	NM_144690	B4DQZ9|B7Z9R3|Q6PJT6	Silent	SNP	ENST00000301310.4	hg19	CCDS33121.1																																																																																			.	.		0.383	ZNF582-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458387.2	NM_144690	
TASP1	55617	hgsc.bcm.edu	37	20	13539657	13539657	+	Missense_Mutation	SNP	T	T	C			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr20:13539657T>C	ENST00000337743.4	-	8	793	c.673A>G	c.(673-675)Aag>Gag	p.K225E	TASP1_ENST00000539805.1_Intron|TASP1_ENST00000480436.1_5'UTR	NM_017714.2	NP_060184.2	Q9H6P5	TASP1_HUMAN	taspase, threonine aspartase, 1	225					positive regulation of transcription, DNA-templated (GO:0045893)		threonine-type endopeptidase activity (GO:0004298)			NS(1)|breast(1)|endometrium(2)|large_intestine(11)|liver(1)|lung(11)|stomach(2)|urinary_tract(2)	31						CACCTGACCTTCTCACTTGAT	0.343																																					p.K225E		Atlas-SNP	.											.	TASP1	52	.	0			c.A673G						.						173.0	164.0	167.0					20																	13539657		2203	4298	6501	SO:0001583	missense	55617	exon8			TGACCTTCTCACT	AK000219	CCDS13116.1	20p12	2005-10-15	2005-10-15	2005-10-15	ENSG00000089123	ENSG00000089123	3.4.25.-		15859	protein-coding gene	gene with protein product		608270	"""chromosome 20 open reading frame 13"""	C20orf13		14636557	Standard	XR_430268		Approved	FLJ20212, dJ585I14.2	uc002woi.3	Q9H6P5	OTTHUMG00000031904	ENST00000337743.4:c.673A>G	chr20.hg19:g.13539657T>C	ENSP00000338624:p.Lys225Glu	100.0	0.0		95.0	4.0	NM_017714	B7Z690|B7Z963|Q5TDU9|Q9BQN0|Q9NQ08|Q9NTS6|Q9NXJ2	Missense_Mutation	SNP	ENST00000337743.4	hg19	CCDS13116.1	.	.	.	.	.	.	.	.	.	.	T	11.19	1.566176	0.27915	.	.	ENSG00000089123	ENST00000378157;ENST00000337743;ENST00000455532	D;D	0.86956	-2.19;-2.19	5.54	5.54	0.83059	.	0.142108	0.64402	D	0.000008	T	0.77198	0.4095	N	0.25647	0.755	0.80722	D	1	B;B	0.18610	0.029;0.017	B;B	0.15870	0.014;0.006	T	0.70726	-0.4793	10	0.06236	T	0.91	-11.8352	13.6177	0.62120	0.0:0.0:0.0:1.0	.	225;202	Q9H6P5;Q5JWM4	TASP1_HUMAN;.	E	202;225;202	ENSP00000338624:K225E;ENSP00000400580:K202E	ENSP00000338624:K225E	K	-	1	0	TASP1	13487657	1.000000	0.71417	1.000000	0.80357	0.558000	0.35554	6.485000	0.73625	2.105000	0.64084	0.482000	0.46254	AAG	.	.		0.343	TASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078041.2	NM_017714	
CST5	1473	hgsc.bcm.edu	37	20	23860147	23860147	+	Missense_Mutation	SNP	T	T	C			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr20:23860147T>C	ENST00000304710.4	-	1	240	c.167A>G	c.(166-168)aAc>aGc	p.N56S		NM_001900.4	NP_001891.2	P28325	CYTD_HUMAN	cystatin D	56					negative regulation of endopeptidase activity (GO:0010951)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1)	11						AATGACCTTGTTGTACTCGCT	0.577																																					p.N56S		Atlas-SNP	.											.	CST5	24	.	0			c.A167G						.						230.0	211.0	217.0					20																	23860147		2203	4300	6503	SO:0001583	missense	1473	exon1			ACCTTGTTGTACT		CCDS13162.1	20p11.21	2008-04-15			ENSG00000170367	ENSG00000170367			2477	protein-coding gene	gene with protein product		123858				1939105	Standard	NM_001900		Approved		uc002wtr.1	P28325	OTTHUMG00000032089	ENST00000304710.4:c.167A>G	chr20.hg19:g.23860147T>C	ENSP00000307132:p.Asn56Ser	96.0	0.0		89.0	4.0	NM_001900	Q5JRF5|Q9UCA0	Missense_Mutation	SNP	ENST00000304710.4	hg19	CCDS13162.1	.	.	.	.	.	.	.	.	.	.	t	12.26	1.885247	0.33255	.	.	ENSG00000170367	ENST00000304710	T	0.55234	0.53	1.99	1.99	0.26369	Proteinase inhibitor I25, cystatin (2);	0.000000	0.85682	D	0.000000	T	0.72755	0.3500	M	0.92268	3.29	0.09310	N	1	D	0.89917	1.0	D	0.80764	0.994	T	0.60939	-0.7163	10	0.66056	D	0.02	.	5.9639	0.19315	0.0:0.0:0.0:1.0	.	56	P28325	CYTD_HUMAN	S	56	ENSP00000307132:N56S	ENSP00000307132:N56S	N	-	2	0	CST5	23808147	0.962000	0.33011	0.004000	0.12327	0.001000	0.01503	2.037000	0.41174	1.163000	0.42636	0.368000	0.22195	AAC	.	.		0.577	CST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078355.2	NM_001900	
ACSS1	84532	hgsc.bcm.edu	37	20	25004120	25004120	+	Silent	SNP	C	C	T			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr20:25004120C>T	ENST00000323482.4	-	4	868	c.789G>A	c.(787-789)ctG>ctA	p.L263L	ACSS1_ENST00000537502.1_Silent_p.L180L|ACSS1_ENST00000432802.2_Silent_p.L263L|ACSS1_ENST00000542618.1_Silent_p.L142L	NM_001252675.1|NM_032501.3	NP_001239604.1|NP_115890.2	Q9NUB1	ACS2L_HUMAN	acyl-CoA synthetase short-chain family member 1	263					acetate biosynthetic process (GO:0019413)|acetyl-CoA biosynthetic process (GO:0006085)|acetyl-CoA biosynthetic process from acetate (GO:0019427)|ethanol oxidation (GO:0006069)|propionate biosynthetic process (GO:0019542)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)	acetate-CoA ligase activity (GO:0003987)|AMP binding (GO:0016208)|ATP binding (GO:0005524)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GCGGGACGTCCAGATCCCCCA	0.557																																					p.L263L		Atlas-SNP	.											.	ACSS1	46	.	0			c.G789A						.						117.0	87.0	97.0					20																	25004120		2203	4300	6503	SO:0001819	synonymous_variant	84532	exon4			GACGTCCAGATCC		CCDS13167.1, CCDS58764.1, CCDS58765.1	20p11.23-p11.21	2012-07-13	2005-09-08	2005-09-08	ENSG00000154930	ENSG00000154930	6.2.1.1	"""Acyl-CoA synthetase family"""	16091	protein-coding gene	gene with protein product		614355	"""acetyl-Coenzyme A synthetase 2 (AMP forming)-like"""	ACAS2L			Standard	NM_032501		Approved	dJ568C11.3, AceCS2L, MGC33843	uc002wub.3	Q9NUB1	OTTHUMG00000032112	ENST00000323482.4:c.789G>A	chr20.hg19:g.25004120C>T		80.0	0.0		66.0	4.0	NM_001252677	B3KXL2|B4DJZ3|D3DW48|F5H6F4|F8W7Y1|Q5TF42|Q8IV99|Q8N234|Q96JI1|Q96JX6|Q9NU28	Silent	SNP	ENST00000323482.4	hg19	CCDS13167.1																																																																																			.	.		0.557	ACSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078386.2	NM_032501	
NINL	22981	hgsc.bcm.edu	37	20	25434263	25434263	+	Missense_Mutation	SNP	T	T	C			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr20:25434263T>C	ENST00000278886.6	-	24	4046	c.3973A>G	c.(3973-3975)Aag>Gag	p.K1325E	NINL_ENST00000422516.1_Missense_Mutation_p.K976E|NINL_ENST00000464285.1_5'UTR	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	1325					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	cytosol (GO:0005829)|microtubule (GO:0005874)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						AGGTCGGACTTCGTGTTCTTT	0.557																																					p.K1325E		Atlas-SNP	.											.	NINL	148	.	0			c.A3973G						.						74.0	64.0	67.0					20																	25434263		2203	4300	6503	SO:0001583	missense	22981	exon24			CGGACTTCGTGTT		CCDS33452.1	20p11.22-p11.1	2013-01-10			ENSG00000101004	ENSG00000101004		"""EF-hand domain containing"""	29163	protein-coding gene	gene with protein product	"""ninein-like protein"""	609580				10231032	Standard	XM_005260678		Approved	KIAA0980, NLP	uc002wux.1	Q9Y2I6	OTTHUMG00000032127	ENST00000278886.6:c.3973A>G	chr20.hg19:g.25434263T>C	ENSP00000278886:p.Lys1325Glu	122.0	0.0		95.0	4.0	NM_025176	A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	Missense_Mutation	SNP	ENST00000278886.6	hg19	CCDS33452.1	.	.	.	.	.	.	.	.	.	.	T	14.49	2.551679	0.45487	.	.	ENSG00000101004	ENST00000278886;ENST00000422516	T;T	0.39229	1.09;1.09	4.89	3.78	0.43462	.	0.233607	0.33916	N	0.004429	T	0.47746	0.1462	L	0.57536	1.79	0.19300	N	0.999974	D;P;P	0.55385	0.971;0.593;0.952	P;B;P	0.50860	0.651;0.29;0.652	T	0.42396	-0.9454	10	0.72032	D	0.01	-14.3263	11.0363	0.47802	0.0:0.0:0.1671:0.8329	.	976;1325;116	Q9Y2I6-2;Q9Y2I6;Q9HAD5	.;NINL_HUMAN;.	E	1325;976	ENSP00000278886:K1325E;ENSP00000410431:K976E	ENSP00000278886:K1325E	K	-	1	0	NINL	25382263	0.887000	0.30362	0.001000	0.08648	0.123000	0.20343	2.010000	0.40913	0.881000	0.35993	0.533000	0.62120	AAG	.	.		0.557	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078445.3	NM_025176	
RALGAPB	57148	hgsc.bcm.edu	37	20	37202799	37202799	+	Silent	SNP	A	A	G			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr20:37202799A>G	ENST00000262879.6	+	29	4433	c.4149A>G	c.(4147-4149)acA>acG	p.T1383T	RALGAPB_ENST00000397042.3_Silent_p.T1380T|RALGAPB_ENST00000490114.1_3'UTR|RALGAPB_ENST00000397038.1_Silent_p.T1162T|RALGAPB_ENST00000397040.1_Silent_p.T1383T			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	1383	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)|Ral protein signal transduction (GO:0032484)|regulation of exocyst localization (GO:0060178)		protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TAAGATCTACAACTCTTGAAA	0.388																																					p.T1383T		Atlas-SNP	.											.	RALGAPB	134	.	0			c.A4149G						.						58.0	66.0	63.0					20																	37202799		2203	4300	6503	SO:0001819	synonymous_variant	57148	exon29			ATCTACAACTCTT	AB033045	CCDS13305.1, CCDS63272.1	20q11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000170471	ENSG00000170471			29221	protein-coding gene	gene with protein product			"""KIAA1219"""	KIAA1219		19520869	Standard	XM_005260462		Approved	DKFZp781M2411, RalGAPbeta	uc002xiw.3	Q86X10	OTTHUMG00000140270	ENST00000262879.6:c.4149A>G	chr20.hg19:g.37202799A>G		126.0	0.0		81.0	4.0	NM_020336	A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Silent	SNP	ENST00000262879.6	hg19	CCDS13305.1																																																																																			.	.		0.388	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079191.1	NM_020336	
FAM65C	140876	hgsc.bcm.edu	37	20	49221180	49221180	+	Splice_Site	SNP	A	A	G			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr20:49221180A>G	ENST00000327979.2	-	12	1486		c.e12+1		FAM65C_ENST00000535356.1_Splice_Site|FAM65C_ENST00000045083.2_Splice_Site			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C											endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AGGCTCACTCACCAGGTAGTA	0.657																																					.		Atlas-SNP	.											.	FAM65C	87	.	0			c.1074+2T>C						.						41.0	43.0	43.0					20																	49221180		2203	4300	6503	SO:0001630	splice_region_variant	140876	exon13			TCACTCACCAGGT	AL133230	CCDS13431.2	20q13.13	2011-11-24	2008-06-13	2008-06-13	ENSG00000042062	ENSG00000042062			16168	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 175"", ""chromosome 20 open reading frame 176"""	C20orf175, C20orf176			Standard	XM_005260294		Approved	dJ530I15.2, dJ530I15.3	uc002xvm.3	Q96MK2	OTTHUMG00000032724	ENST00000327979.2:c.1074+1T>C	chr20.hg19:g.49221180A>G		66.0	0.0		58.0	4.0	NM_080829	Q5QPB6|Q9NQQ2	Splice_Site	SNP	ENST00000327979.2	hg19	CCDS13431.2	.	.	.	.	.	.	.	.	.	.	A	17.61	3.432285	0.62844	.	.	ENSG00000042062	ENST00000327979;ENST00000045083;ENST00000535356	.	.	.	4.33	4.33	0.51752	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.7827	0.57487	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FAM65C	48654587	1.000000	0.71417	1.000000	0.80357	0.704000	0.40688	7.861000	0.87004	1.727000	0.51537	0.459000	0.35465	.	.	.		0.657	FAM65C-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257962.1		Intron
HSPA13	6782	hgsc.bcm.edu	37	21	15748106	15748106	+	Silent	SNP	T	T	C			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr21:15748106T>C	ENST00000285667.3	-	4	682	c.615A>G	c.(613-615)acA>acG	p.T205T	HSPA13_ENST00000478035.1_5'Flank|HSPA13_ENST00000544452.1_5'UTR	NM_006948.4	NP_008879.3	P48723	HSP13_HUMAN	heat shock protein 70kDa family, member 13	205						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	ATP binding (GO:0005524)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						TAGCTGCTGCTGTGGGTTCAT	0.438																																					p.T205T		Atlas-SNP	.											.	HSPA13	44	.	0			c.A615G						.						118.0	110.0	113.0					21																	15748106		2203	4300	6503	SO:0001819	synonymous_variant	6782	exon4			TGCTGCTGTGGGT		CCDS13567.1	21q11.1	2011-09-02	2008-06-17	2008-06-17	ENSG00000155304	ENSG00000155304		"""Heat shock proteins / HSP70"""	11375	protein-coding gene	gene with protein product		601100	"""stress 70 protein chaperone, microsome-associated, 60kD"", ""stress 70 protein chaperone, microsome-associated, 60kDa"""	STCH		8825657	Standard	NM_006948		Approved		uc002yjt.3	P48723	OTTHUMG00000074261	ENST00000285667.3:c.615A>G	chr21.hg19:g.15748106T>C		104.0	0.0		91.0	4.0	NM_006948	B2R616|Q8NE40	Silent	SNP	ENST00000285667.3	hg19	CCDS13567.1																																																																																			.	.		0.438	HSPA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157815.1		
N6AMT1	29104	hgsc.bcm.edu	37	21	30248785	30248785	+	Silent	SNP	T	T	C			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr21:30248785T>C	ENST00000303775.5	-	6	592	c.567A>G	c.(565-567)aaA>aaG	p.K189K	N6AMT1_ENST00000351429.3_Silent_p.K161K	NM_013240.4	NP_037372	Q9Y5N5	HEMK2_HUMAN	N-6 adenine-specific DNA methyltransferase 1 (putative)	189					positive regulation of cell growth (GO:0030307)|protein methylation (GO:0006479)	protein complex (GO:0043234)	nucleic acid binding (GO:0003676)|protein methyltransferase activity (GO:0008276)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)	12						CTTGCAGACCTTTTGTCTTCA	0.363																																					p.K189K		Atlas-SNP	.											.	N6AMT1	31	.	0			c.A567G						.						147.0	130.0	136.0					21																	30248785		2203	4300	6503	SO:0001819	synonymous_variant	29104	exon6			CAGACCTTTTGTC	AF139682	CCDS33525.1, CCDS33526.1	21q21.3	2006-12-14	2006-12-14	2006-12-14	ENSG00000156239	ENSG00000156239	2.1.1.72		16021	protein-coding gene	gene with protein product		614553	"""chromosome 21 open reading frame 127"", ""HemK methyltransferase family member 2"""	C21orf127, HEMK2			Standard	NM_013240		Approved	PRED28, N6AMT, MTQ2	uc002ymo.2	Q9Y5N5	OTTHUMG00000078750	ENST00000303775.5:c.567A>G	chr21.hg19:g.30248785T>C		67.0	0.0		90.0	4.0	NM_013240	Q96F73	Silent	SNP	ENST00000303775.5	hg19	CCDS33526.1																																																																																			.	.		0.363	N6AMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171738.1	NM_013240	
GRIK1	2897	hgsc.bcm.edu	37	21	31015285	31015285	+	Missense_Mutation	SNP	T	T	C			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr21:31015285T>C	ENST00000399907.1	-	7	1370	c.959A>G	c.(958-960)gAa>gGa	p.E320G	GRIK1_ENST00000535441.1_Missense_Mutation_p.E320G|GRIK1_ENST00000399909.1_Missense_Mutation_p.E320G|GRIK1_ENST00000389124.2_Missense_Mutation_p.E320G|GRIK1_ENST00000399914.1_Missense_Mutation_p.E320G|GRIK1_ENST00000327783.4_Missense_Mutation_p.E320G|GRIK1_ENST00000389125.3_Missense_Mutation_p.E320G|GRIK1_ENST00000309434.7_Missense_Mutation_p.E320G|GRIK1_ENST00000472429.1_5'UTR|GRIK1_ENST00000399913.1_Missense_Mutation_p.E320G	NM_000830.3	NP_000821.1	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	320					adult behavior (GO:0030534)|behavioral response to pain (GO:0048266)|central nervous system development (GO:0007417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|nervous system development (GO:0007399)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					Topiramate(DB00273)	CAGAGCCGCTTCAGTCTGTGG	0.507																																					p.E320G		Atlas-SNP	.											.	GRIK1	293	.	0			c.A959G						.						111.0	98.0	103.0					21																	31015285		2203	4300	6503	SO:0001583	missense	2897	exon7			GCCGCTTCAGTCT		CCDS33530.1, CCDS42913.1	21q22	2012-08-29			ENSG00000171189	ENSG00000171189		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4579	protein-coding gene	gene with protein product		138245		GLUR5		8468067	Standard	XM_005260942		Approved	GluK1	uc002yno.1	P39086	OTTHUMG00000078879	ENST00000399907.1:c.959A>G	chr21.hg19:g.31015285T>C	ENSP00000382791:p.Glu320Gly	91.0	0.0		97.0	4.0	NM_175611	Q13001|Q86SU9	Missense_Mutation	SNP	ENST00000399907.1	hg19	CCDS42913.1	.	.	.	.	.	.	.	.	.	.	T	17.92	3.507044	0.64410	.	.	ENSG00000171189	ENST00000327783;ENST00000389125;ENST00000399913;ENST00000399914;ENST00000535441;ENST00000541508;ENST00000389124;ENST00000399907;ENST00000399909;ENST00000309434	T;T;T;T;T;T;T;T;T	0.23754	1.89;1.89;1.89;1.89;1.89;1.89;1.89;1.89;1.89	5.33	4.16	0.48862	Extracellular ligand-binding receptor (1);	0.048109	0.85682	D	0.000000	T	0.36690	0.0976	M	0.62723	1.935	0.58432	D	0.999996	B;B;P;B;B;B	0.42620	0.318;0.155;0.785;0.318;0.155;0.234	B;B;P;B;B;B	0.49012	0.297;0.297;0.598;0.297;0.297;0.197	T	0.15122	-1.0448	10	0.62326	D	0.03	.	12.2112	0.54381	0.0:0.0:0.1427:0.8573	.	320;320;320;320;320;320	E7EPY9;E9PD61;E7EPZ0;B7Z3V7;P39086;P39086-2	.;.;.;.;GRIK1_HUMAN;.	G	320;320;320;320;320;264;320;320;320;320	ENSP00000327687:E320G;ENSP00000373777:E320G;ENSP00000382797:E320G;ENSP00000382798:E320G;ENSP00000446326:E320G;ENSP00000373776:E320G;ENSP00000382791:E320G;ENSP00000382793:E320G;ENSP00000311646:E320G	ENSP00000311646:E320G	E	-	2	0	GRIK1	29937156	1.000000	0.71417	0.914000	0.36105	0.970000	0.65996	4.585000	0.60977	1.011000	0.39340	0.533000	0.62120	GAA	.	.		0.507	GRIK1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171979.1		
DNAJC28	54943	hgsc.bcm.edu	37	21	34860754	34860754	+	Nonsense_Mutation	SNP	A	A	C	rs139852262|rs3834674	byFrequency	TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr21:34860754A>C	ENST00000314399.3	-	2	1385	c.947T>G	c.(946-948)tTa>tGa	p.L316*	DNAJC28_ENST00000402202.1_Nonsense_Mutation_p.L316*|DNAJC28_ENST00000381947.3_Nonsense_Mutation_p.L316*	NM_017833.3	NP_060303.2	Q9NX36	DJC28_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 28	316				LIVPILTRQKVHFDAQKEIVRAQKIYETLIKTKEVTDRNPN NLDQGEGEKTPEIKKGFLNWMNLWKFIKIRSF -> CSHPD QAKSPF (in Ref. 2; BAA91185). {ECO:0000305}.				p.L316*(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(5)|skin(1)|urinary_tract(1)	18						GGGAACAATTAAATTAAAATC	0.338																																					p.L316X		Atlas-SNP	.											DNAJC28,NS,carcinoma,0,2	DNAJC28	47	.	2	Substitution - Nonsense(2)	lung(2)	c.T947G						.						78.0	64.0	69.0					21																	34860754		2203	4291	6494	SO:0001587	stop_gained	54943	exon2			ACAATTAAATTAA	AK000468	CCDS13626.1	21q22.11	2011-09-02	2008-06-17	2008-06-17	ENSG00000177692	ENSG00000177692		"""Heat shock proteins / DNAJ (HSP40)"""	1297	protein-coding gene	gene with protein product	"""Orf28"""		"""chromosome 21 open reading frame 55"""	C21orf55			Standard	NM_017833		Approved	C21orf78	uc002yrw.3	Q9NX36	OTTHUMG00000065531	ENST00000314399.3:c.947T>G	chr21.hg19:g.34860754A>C	ENSP00000320303:p.Leu316*	9.0	1.0		19.0	4.0	NM_001040192	D3DSF2	Nonsense_Mutation	SNP	ENST00000314399.3	hg19	CCDS13626.1	.	.	.	.	.	.	.	.	.	.	A	38	7.162118	0.98107	.	.	ENSG00000177692	ENST00000381947;ENST00000314399;ENST00000402202	.	.	.	5.09	5.09	0.68999	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.8259	14.8401	0.70217	1.0:0.0:0.0:0.0	.	.	.	.	X	316	.	ENSP00000320303:L316X	L	-	2	0	DNAJC28	33782624	1.000000	0.71417	0.993000	0.49108	0.986000	0.74619	8.254000	0.89844	2.050000	0.60909	0.528000	0.53228	TTA	.	.		0.338	DNAJC28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140454.3		
DNAJC28	54943	hgsc.bcm.edu	37	21	34860757	34860757	+	Missense_Mutation	SNP	T	T	A			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr21:34860757T>A	ENST00000314399.3	-	2	1382	c.944A>T	c.(943-945)aAt>aTt	p.N315I	DNAJC28_ENST00000402202.1_Missense_Mutation_p.N315I|DNAJC28_ENST00000381947.3_Missense_Mutation_p.N315I	NM_017833.3	NP_060303.2	Q9NX36	DJC28_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 28	315										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(5)|skin(1)|urinary_tract(1)	18						AACAATTAAATTAAAATCATT	0.348																																					p.N315I		Atlas-SNP	.											.	DNAJC28	47	.	0			c.A944T						.						83.0	79.0	80.0					21																	34860757		2203	4300	6503	SO:0001583	missense	54943	exon2			ATTAAATTAAAAT	AK000468	CCDS13626.1	21q22.11	2011-09-02	2008-06-17	2008-06-17	ENSG00000177692	ENSG00000177692		"""Heat shock proteins / DNAJ (HSP40)"""	1297	protein-coding gene	gene with protein product	"""Orf28"""		"""chromosome 21 open reading frame 55"""	C21orf55			Standard	NM_017833		Approved	C21orf78	uc002yrw.3	Q9NX36	OTTHUMG00000065531	ENST00000314399.3:c.944A>T	chr21.hg19:g.34860757T>A	ENSP00000320303:p.Asn315Ile	145.0	0.0		97.0	9.0	NM_001040192	D3DSF2	Missense_Mutation	SNP	ENST00000314399.3	hg19	CCDS13626.1	.	.	.	.	.	.	.	.	.	.	T	19.95	3.921477	0.73213	.	.	ENSG00000177692	ENST00000381947;ENST00000314399;ENST00000402202	.	.	.	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.79816	0.4511	M	0.80183	2.485	0.53688	D	0.999979	D	0.89917	1.0	D	0.87578	0.998	T	0.83136	-0.0111	9	0.87932	D	0	-25.7443	14.8401	0.70217	0.0:0.0:0.0:1.0	.	315	Q9NX36	DJC28_HUMAN	I	315	.	ENSP00000320303:N315I	N	-	2	0	DNAJC28	33782627	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.094000	0.76944	2.050000	0.60909	0.528000	0.53228	AAT	.	.		0.348	DNAJC28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140454.3		
MYO18B	84700	hgsc.bcm.edu	37	22	26157091	26157091	+	Missense_Mutation	SNP	A	A	G			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr22:26157091A>G	ENST00000407587.2	+	2	201	c.32A>G	c.(31-33)gAg>gGg	p.E11G	MYO18B_ENST00000335473.7_Missense_Mutation_p.E11G|MYO18B_ENST00000536101.1_Missense_Mutation_p.E11G			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	11						cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GCCCTGTGGGAGCAGAAGGAA	0.597																																					p.E11G		Atlas-SNP	.											.	MYO18B	322	.	0			c.A32G						.						98.0	100.0	99.0					22																	26157091		2188	4276	6464	SO:0001583	missense	84700	exon2			TGTGGGAGCAGAA	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.32A>G	chr22.hg19:g.26157091A>G	ENSP00000386096:p.Glu11Gly	75.0	0.0		107.0	5.0	NM_032608	B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	hg19		.	.	.	.	.	.	.	.	.	.	A	22.5	4.299248	0.81025	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;D	0.91996	-2.93;-2.93;-2.95	5.3	5.3	0.74995	.	0.000000	0.36665	N	0.002474	D	0.94532	0.8239	L	0.59436	1.845	0.33699	D	0.614359	D	0.89917	1.0	D	0.87578	0.998	D	0.96838	0.9616	10	0.87932	D	0	.	11.635	0.51198	1.0:0.0:0.0:0.0	.	11	F5GYU7	.	G	11	ENSP00000441229:E11G;ENSP00000334563:E11G;ENSP00000386096:E11G	ENSP00000334563:E11G	E	+	2	0	MYO18B	24487091	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.910000	0.63321	2.012000	0.59069	0.482000	0.46254	GAG	.	.		0.597	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608	
BAIAP2L2	80115	hgsc.bcm.edu	37	22	38482394	38482394	+	Missense_Mutation	SNP	A	A	G	rs371997714|rs66500630	byFrequency	TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr22:38482394A>G	ENST00000381669.3	-	12	1466	c.1322T>C	c.(1321-1323)aTa>aCa	p.I441T	SLC16A8_ENST00000469516.1_5'Flank	NM_025045.4	NP_079321.3	Q6UXY1	BI2L2_HUMAN	BAI1-associated protein 2-like 2	441					filopodium assembly (GO:0046847)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|signal transduction (GO:0007165)	cell-cell contact zone (GO:0044291)|cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	phospholipid binding (GO:0005543)			large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	8	Melanoma(58;0.045)					CGAGGGTGCTATGGAGTTGCC	0.677																																					p.I441T		Atlas-SNP	.											.	BAIAP2L2	39	.	0			c.T1322C						.						16.0	17.0	17.0					22																	38482394		2030	3883	5913	SO:0001583	missense	80115	exon12			GGTGCTATGGAGT	BC015619	CCDS43018.1	22q13.1	2005-02-09			ENSG00000128298	ENSG00000128298			26203	protein-coding gene	gene with protein product							Standard	NM_025045		Approved	FLJ22582	uc003auw.3	Q6UXY1	OTTHUMG00000151197	ENST00000381669.3:c.1322T>C	chr22.hg19:g.38482394A>G	ENSP00000371085:p.Ile441Thr	88.0	0.0		87.0	10.0	NM_025045	B0QYE2|Q96BG7	Missense_Mutation	SNP	ENST00000381669.3	hg19	CCDS43018.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	0.203|0.203	-1.043386|-1.043386	0.01997|0.01997	.|.	.|.	ENSG00000128298|ENSG00000128298	ENST00000402500|ENST00000381669;ENST00000428572	.|T	.|0.43688	.|0.94	4.42|4.42	1.07|1.07	0.20283|0.20283	.|.	.|1.241170	.|0.05585	.|N	.|0.573669	.|T	.|0.21103	.|0.0508	N|N	0.03084|0.03084	-0.415|-0.415	0.09310|0.09310	N|N	1|1	.|B	.|0.02656	.|0.0	.|B	.|0.01281	.|0.0	.|T	.|0.20806	.|-1.0264	.|10	.|0.25106	.|T	.|0.35	.|-17.1778	8.3981|8.3981	0.32570|0.32570	0.2569:0.0:0.7431:0.0|0.2569:0.0:0.7431:0.0	.|.	.|441	.|Q6UXY1	.|BI2L2_HUMAN	.|T	-1|441;132	.|ENSP00000410074:I132T	.|ENSP00000371085:I441T	.|I	-|-	.|2	.|0	BAIAP2L2|BAIAP2L2	36812340|36812340	0.001000|0.001000	0.12720|0.12720	0.292000|0.292000	0.24919|0.24919	0.859000|0.859000	0.49053|0.49053	1.072000|1.072000	0.30678|0.30678	0.322000|0.322000	0.23283|0.23283	-0.414000|-0.414000	0.06135|0.06135	.|ATA	.	.		0.677	BAIAP2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321727.1	NM_025045	
PACSIN2	11252	hgsc.bcm.edu	37	22	43308052	43308052	+	Missense_Mutation	SNP	T	T	C			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr22:43308052T>C	ENST00000263246.3	-	2	236	c.35A>G	c.(34-36)gAa>gGa	p.E12G	PACSIN2_ENST00000407585.1_Missense_Mutation_p.E12G|PACSIN2_ENST00000402229.1_Missense_Mutation_p.E12G|PACSIN2_ENST00000337959.4_Missense_Mutation_p.E12G|PACSIN2_ENST00000403744.3_Missense_Mutation_p.E12G	NM_001184970.1	NP_001171899.1	Q9UNF0	PACN2_HUMAN	protein kinase C and casein kinase substrate in neurons 2	12	F-BAR domain.|FCH. {ECO:0000255|PROSITE- ProRule:PRU00083}.				actin cytoskeleton organization (GO:0030036)|caveola assembly (GO:0070836)|caveolin-mediated endocytosis (GO:0072584)|cell projection morphogenesis (GO:0048858)|membrane tubulation (GO:0097320)|negative regulation of endocytosis (GO:0045806)|protein localization to endosome (GO:0036010)	caveola (GO:0005901)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|recycling endosome membrane (GO:0055038)	identical protein binding (GO:0042802)|phosphatidic acid binding (GO:0070300)|transporter activity (GO:0005215)			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)	19		Glioma(61;0.222)				GCTGGACACTTCTACTCCAAC	0.473																																					p.E12G		Atlas-SNP	.											.	PACSIN2	48	.	0			c.A35G						.						81.0	80.0	80.0					22																	43308052		1903	4108	6011	SO:0001583	missense	11252	exon2			GACACTTCTACTC	AF128536	CCDS43023.1, CCDS54536.1	22q13.2-q13.33	2009-05-08			ENSG00000100266	ENSG00000100266			8571	protein-coding gene	gene with protein product	"""syndapin II"""	604960				10431838, 11082044	Standard	NM_007229		Approved	SDPII	uc003bdg.4	Q9UNF0	OTTHUMG00000150701	ENST00000263246.3:c.35A>G	chr22.hg19:g.43308052T>C	ENSP00000263246:p.Glu12Gly	54.0	0.0		63.0	4.0	NM_007229	O95921|Q96HV9|Q9H0D3|Q9NPN1|Q9Y4V2	Missense_Mutation	SNP	ENST00000263246.3	hg19	CCDS43023.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.441397	0.83993	.	.	ENSG00000100266	ENST00000263246;ENST00000337959;ENST00000407585;ENST00000403744;ENST00000402229;ENST00000453643;ENST00000418133;ENST00000422336;ENST00000453079	T;T;T;T;T;T;T;T	0.50277	1.41;1.36;1.36;1.41;1.41;0.75;0.75;0.75	5.65	5.65	0.86999	Fps/Fes/Fer/CIP4 homology (1);	0.049079	0.85682	D	0.000000	T	0.46795	0.1411	L	0.47716	1.5	0.51767	D	0.99993	P;P	0.45348	0.682;0.856	B;P	0.45639	0.307;0.488	T	0.45056	-0.9287	10	0.48119	T	0.1	-1.1225	12.1892	0.54261	0.0:0.0:0.0:1.0	.	12;12	Q6FIA3;Q9UNF0	.;PACN2_HUMAN	G	12	ENSP00000263246:E12G;ENSP00000338379:E12G;ENSP00000385952:E12G;ENSP00000385372:E12G;ENSP00000385040:E12G;ENSP00000398573:E12G;ENSP00000396816:E12G;ENSP00000403435:E12G	ENSP00000263246:E12G	E	-	2	0	PACSIN2	41637996	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.083000	0.57643	2.371000	0.80710	0.533000	0.62120	GAA	.	.		0.473	PACSIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319665.1	NM_007229	
PNPLA5	150379	hgsc.bcm.edu	37	22	44283472	44283472	+	Splice_Site	SNP	A	A	G			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr22:44283472A>G	ENST00000597664.1	-	5	891	c.762T>C	c.(760-762)cgT>cgC	p.R254R	PNPLA5_ENST00000381198.2_Splice_Site_p.R140R|PNPLA5_ENST00000216177.4_Splice_Site_p.R254R|PNPLA5_ENST00000593866.1_Splice_Site_p.R140R			Q7Z6Z6	PLPL5_HUMAN	patatin-like phospholipase domain containing 5	254					lipid catabolic process (GO:0016042)		hydrolase activity (GO:0016787)			endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	16		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				GCCACCTACCACGTCTCTCCA	0.602																																					p.R254R		Atlas-SNP	.											.	PNPLA5	46	.	0			c.T762C						.						133.0	82.0	99.0					22																	44283472		2203	4300	6503	SO:0001630	splice_region_variant	150379	exon5			CCTACCACGTCTC	Z97055	CCDS14053.1, CCDS54537.1	22q13.31	2009-01-12			ENSG00000100341	ENSG00000100341		"""Patatin-like phospholipase domain containing"""	24888	protein-coding gene	gene with protein product		611589				16799181, 19029121	Standard	NM_138814		Approved	dJ388M5.4, GS2L	uc003beg.3	Q7Z6Z6	OTTHUMG00000030779	ENST00000597664.1:c.763+1T>C	chr22.hg19:g.44283472A>G		64.0	0.0		94.0	4.0	NM_138814	B1AHL8|B3KPR1|Q6ZST0	Silent	SNP	ENST00000597664.1	hg19																																																																																				.	.		0.602	PNPLA5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000075667.4	NM_138814	Silent
PKDREJ	10343	hgsc.bcm.edu	37	22	46654318	46654318	+	Silent	SNP	T	T	C			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr22:46654318T>C	ENST00000253255.5	-	1	4901	c.4902A>G	c.(4900-4902)tcA>tcG	p.S1634S		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1634					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)		TTCTGAAGCCTGACAGGAGTA	0.398																																					p.S1634S		Atlas-SNP	.											.	PKDREJ	195	.	0			c.A4902G						.						84.0	82.0	82.0					22																	46654318		2203	4300	6503	SO:0001819	synonymous_variant	10343	exon1			GAAGCCTGACAGG	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.4902A>G	chr22.hg19:g.46654318T>C		105.0	0.0		90.0	4.0	NM_006071	B1AJY3|O95850	Silent	SNP	ENST00000253255.5	hg19	CCDS14073.1																																																																																			.	.		0.398	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071	
PPP6R2	9701	hgsc.bcm.edu	37	22	50854528	50854528	+	Missense_Mutation	SNP	A	A	G			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr22:50854528A>G	ENST00000216061.5	+	7	930	c.560A>G	c.(559-561)aAt>aGt	p.N187S	PPP6R2_ENST00000395744.3_Missense_Mutation_p.N187S|PPP6R2_ENST00000395741.3_Missense_Mutation_p.N187S|PPP6R2_ENST00000359139.3_Missense_Mutation_p.N187S			O75170	PP6R2_HUMAN	protein phosphatase 6, regulatory subunit 2	187						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						CAGTGGCTGAATGAAGAGAAG	0.512																																					p.N187S		Atlas-SNP	.											.	PPP6R2	71	.	0			c.A560G						.						135.0	119.0	125.0					22																	50854528		2203	4300	6503	SO:0001583	missense	9701	exon6			GGCTGAATGAAGA	AB014585	CCDS33681.1, CCDS56235.1, CCDS56236.1, CCDS74881.1	22q13.33	2012-04-17	2010-06-28	2010-06-28	ENSG00000100239	ENSG00000100239		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"""	19253	protein-coding gene	gene with protein product		610877	"""KIAA0685"", ""SAPS domain family, member 2"""	KIAA0685, SAPS2		16769727	Standard	NM_014678		Approved	dJ579N16.1, SAP190	uc003blc.3	O75170	OTTHUMG00000150199	ENST00000216061.5:c.560A>G	chr22.hg19:g.50854528A>G	ENSP00000216061:p.Asn187Ser	103.0	0.0		100.0	27.0	NM_001242898	A6PVG3|B7Z7T3|Q5U5P3|Q7Z2L2|Q7Z5G5|Q7Z731|Q9UGB9	Missense_Mutation	SNP	ENST00000216061.5	hg19		.	.	.	.	.	.	.	.	.	.	A	20.4	3.990861	0.74703	.	.	ENSG00000100239	ENST00000359139;ENST00000395741;ENST00000395744;ENST00000216061	T;T;T;T	0.28666	1.6;1.6;1.6;1.6	5.5	5.5	0.81552	.	0.084250	0.85682	D	0.000000	T	0.58395	0.2119	M	0.85197	2.74	0.54753	D	0.999986	D;D;D;D;D	0.69078	0.997;0.997;0.984;0.997;0.984	D;D;D;D;P	0.68483	0.93;0.958;0.92;0.93;0.891	T	0.65660	-0.6114	10	0.87932	D	0	-10.9755	13.5452	0.61699	1.0:0.0:0.0:0.0	.	187;187;187;187;187	O75170-5;O75170;O75170-3;O75170-4;O75170-2	.;PP6R2_HUMAN;.;.;.	S	187	ENSP00000352051:N187S;ENSP00000379090:N187S;ENSP00000379093:N187S;ENSP00000216061:N187S	ENSP00000216061:N187S	N	+	2	0	PPP6R2	49201394	1.000000	0.71417	0.995000	0.50966	0.522000	0.34438	6.908000	0.75730	2.093000	0.63338	0.374000	0.22700	AAT	.	.		0.512	PPP6R2-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000316809.1	NM_014678	
ODF3B	440836	hgsc.bcm.edu	37	22	50969184	50969184	+	Missense_Mutation	SNP	T	T	C			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr22:50969184T>C	ENST00000428989.2	-	5	637	c.638A>G	c.(637-639)gAc>gGc	p.D213G	TYMP_ENST00000395678.3_5'Flank|TYMP_ENST00000252029.3_5'Flank|ODF3B_ENST00000329363.4_Missense_Mutation_p.D213G|ODF3B_ENST00000403326.1_Missense_Mutation_p.D145G|TYMP_ENST00000395681.1_5'Flank|TYMP_ENST00000395680.1_5'Flank|ODF3B_ENST00000401779.1_Silent_p.R189R|ODF3B_ENST00000405135.1_Silent_p.R228R			A8MYP8	ODF3B_HUMAN	outer dense fiber of sperm tails 3B	213										lung(2)	2						CCGAGTGTTGTCTTGGGGGAG	0.667																																					p.D213G		Atlas-SNP	.											.	ODF3B	6	.	0			c.A638G						.						16.0	19.0	18.0					22																	50969184		1923	4109	6032	SO:0001583	missense	440836	exon6			GTGTTGTCTTGGG		CCDS43039.1	22q13.33	2008-10-24			ENSG00000177989	ENSG00000177989			34388	protein-coding gene	gene with protein product							Standard	NM_001014440		Approved		uc003bmh.2	A8MYP8	OTTHUMG00000150334	ENST00000428989.2:c.638A>G	chr22.hg19:g.50969184T>C	ENSP00000390712:p.Asp213Gly	54.0	0.0		86.0	4.0	NM_001014440	A0PK18	Missense_Mutation	SNP	ENST00000428989.2	hg19	CCDS43039.1	.	.	.	.	.	.	.	.	.	.	T	10.22	1.291132	0.23564	.	.	ENSG00000177989	ENST00000329363;ENST00000403326;ENST00000428989	T;T;T	0.34275	1.37;1.37;1.37	5.14	4.1	0.47936	.	.	.	.	.	T	0.32912	0.0845	M	0.64630	1.985	0.26183	N	0.979709	B	0.06786	0.001	B	0.08055	0.003	T	0.23762	-1.0179	9	0.28530	T	0.3	-1.0048	6.9715	0.24652	0.0:0.1055:0.0:0.8945	.	213	A8MYP8	ODF3B_HUMAN	G	213;145;213	ENSP00000382804:D213G;ENSP00000385123:D145G;ENSP00000390712:D213G	ENSP00000382804:D213G	D	-	2	0	ODF3B	49316050	0.658000	0.27402	0.162000	0.22713	0.120000	0.20174	1.333000	0.33816	0.986000	0.38683	0.459000	0.35465	GAC	.	.		0.667	ODF3B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317626.2		
PHEX	5251	hgsc.bcm.edu	37	X	22237189	22237189	+	Silent	SNP	A	A	G			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chrX:22237189A>G	ENST00000379374.4	+	17	2302	c.1737A>G	c.(1735-1737)ggA>ggG	p.G579G	PHEX_ENST00000535894.1_Silent_p.G482G|PHEX_ENST00000537599.1_Silent_p.G579G|PHEX_ENST00000418858.3_Silent_p.G282G	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN	phosphate regulating endopeptidase homolog, X-linked	579			G -> R (in XLHR). {ECO:0000269|PubMed:9097956, ECO:0000269|PubMed:9199930, ECO:0000269|PubMed:9768674}.|G -> V (in XLHR). {ECO:0000269|PubMed:9106524}.		bone mineralization (GO:0030282)|cell-cell signaling (GO:0007267)|cellular protein modification process (GO:0006464)|organophosphate metabolic process (GO:0019637)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						TAATTGTCGGACATGAATTTA	0.313																																					p.G579G		Atlas-SNP	.											.	PHEX	95	.	0			c.A1737G						.						165.0	145.0	152.0					X																	22237189		2203	4299	6502	SO:0001819	synonymous_variant	5251	exon17			TGTCGGACATGAA	U82970	CCDS14204.1	Xp22.2-p22.1	2008-07-31	2008-07-31		ENSG00000102174	ENSG00000102174			8918	protein-coding gene	gene with protein product		300550	"""phosphate regulating gene with homologies to endopeptidases on the X chromosome (hypophosphatemia, vitamin D resistant rickets)"""	HYP, HPDR		7550339, 9070861	Standard	NM_000444		Approved	PEX, HPDR1, HYP1, XLH	uc004dah.3	P78562	OTTHUMG00000021241	ENST00000379374.4:c.1737A>G	chrX.hg19:g.22237189A>G		48.0	0.0		72.0	4.0	NM_000444	O00678|Q13646|Q2M325|Q93032|Q99827	Silent	SNP	ENST00000379374.4	hg19	CCDS14204.1																																																																																			.	.		0.313	PHEX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056035.1	NM_000444	
PHEX	5251	hgsc.bcm.edu	37	X	22265970	22265970	+	Missense_Mutation	SNP	T	T	C			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chrX:22265970T>C	ENST00000379374.4	+	22	2715	c.2150T>C	c.(2149-2151)gTc>gCc	p.V717A	PHEX_ENST00000535894.1_Missense_Mutation_p.V620A|PHEX_ENST00000537599.1_Silent_p.G691G|PHEX_ENST00000418858.3_Missense_Mutation_p.V420A	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN	phosphate regulating endopeptidase homolog, X-linked	717					bone mineralization (GO:0030282)|cell-cell signaling (GO:0007267)|cellular protein modification process (GO:0006464)|organophosphate metabolic process (GO:0019637)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						TTTTTCAGGGTCAATGGTGCA	0.403																																					p.V717A		Atlas-SNP	.											.	PHEX	95	.	0			c.T2150C						.						91.0	79.0	83.0					X																	22265970		2203	4300	6503	SO:0001583	missense	5251	exon22			TCAGGGTCAATGG	U82970	CCDS14204.1	Xp22.2-p22.1	2008-07-31	2008-07-31		ENSG00000102174	ENSG00000102174			8918	protein-coding gene	gene with protein product		300550	"""phosphate regulating gene with homologies to endopeptidases on the X chromosome (hypophosphatemia, vitamin D resistant rickets)"""	HYP, HPDR		7550339, 9070861	Standard	NM_000444		Approved	PEX, HPDR1, HYP1, XLH	uc004dah.3	P78562	OTTHUMG00000021241	ENST00000379374.4:c.2150T>C	chrX.hg19:g.22265970T>C	ENSP00000368682:p.Val717Ala	67.0	0.0		96.0	4.0	NM_000444	O00678|Q13646|Q2M325|Q93032|Q99827	Missense_Mutation	SNP	ENST00000379374.4	hg19	CCDS14204.1	.	.	.	.	.	.	.	.	.	.	T	24.8	4.573189	0.86542	.	.	ENSG00000102174	ENST00000379374;ENST00000535894;ENST00000418858	D;D;D	0.87571	-2.27;-2.27;-2.27	5.59	5.59	0.84812	Peptidase M13, neprilysin, C-terminal (1);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.89093	0.6617	L	0.53780	1.695	0.80722	D	1	D	0.56968	0.978	P	0.54815	0.761	D	0.89316	0.3636	10	0.52906	T	0.07	.	13.0096	0.58724	0.0:0.0:0.0:1.0	.	717	P78562	PHEX_HUMAN	A	717;620;420	ENSP00000368682:V717A;ENSP00000439418:V620A;ENSP00000443531:V420A	ENSP00000368682:V717A	V	+	2	0	PHEX	22175891	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	6.220000	0.72237	1.873000	0.54277	0.486000	0.48141	GTC	.	.		0.403	PHEX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056035.1	NM_000444	
TAB3	257397	hgsc.bcm.edu	37	X	30864763	30864763	+	Splice_Site	SNP	T	T	C			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chrX:30864763T>C	ENST00000378933.1	-	5	1888		c.e5-2		TAB3_ENST00000288422.2_Splice_Site|TAB3_ENST00000378930.3_Splice_Site|TAB3_ENST00000378932.2_Splice_Site|TAB3_ENST00000378928.1_Splice_Site	NM_152787.3	NP_690000.2	Q8N5C8	TAB3_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 3						activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|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)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|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)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1)	27						TTCCTCAGGCTAGTAAGAAAG	0.373																																					.	Pancreas(164;1598 1985 29022 43301 49529)	Atlas-SNP	.											.	TAB3	82	.	0			c.1711-2A>G						.						160.0	133.0	142.0					X																	30864763		2202	4300	6502	SO:0001630	splice_region_variant	257397	exon9			TCAGGCTAGTAAG	AY331591	CCDS14226.1	Xp21.2	2010-02-05	2010-02-05	2010-02-05	ENSG00000157625	ENSG00000157625			30681	protein-coding gene	gene with protein product	"""TAK1 binding protein 3"""	300480	"""mitogen-activated protein kinase kinase kinase 7 interacting protein 3"""	MAP3K7IP3		14633987, 14670075	Standard	XM_005274482		Approved		uc004dcj.3	Q8N5C8	OTTHUMG00000021329	ENST00000378933.1:c.1711-2A>G	chrX.hg19:g.30864763T>C		64.0	0.0		72.0	4.0	NM_152787	A6NDD9|Q6VQR0	Splice_Site	SNP	ENST00000378933.1	hg19	CCDS14226.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.980496	0.74474	.	.	ENSG00000157625	ENST00000378933;ENST00000378930;ENST00000288422;ENST00000378932;ENST00000378928	.	.	.	5.14	5.14	0.70334	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.1015	0.65059	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	TAB3	30774684	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.678000	0.84035	1.707000	0.51288	0.437000	0.28790	.	.	.		0.373	TAB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056173.1	NM_152787	Intron
RP2	6102	hgsc.bcm.edu	37	X	46713254	46713254	+	Missense_Mutation	SNP	A	A	G			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chrX:46713254A>G	ENST00000218340.3	+	2	607	c.446A>G	c.(445-447)cAa>cGa	p.Q149R		NM_006915.2	NP_008846.2	O75695	XRP2_HUMAN	retinitis pigmentosa 2 (X-linked recessive)	149	C-CAP/cofactor C-like. {ECO:0000255|PROSITE-ProRule:PRU00659}.				cell morphogenesis (GO:0000902)|CTP biosynthetic process (GO:0006241)|cytoskeleton organization (GO:0007010)|GTP biosynthetic process (GO:0006183)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|protein folding (GO:0006457)|protein transport (GO:0015031)|UTP biosynthetic process (GO:0006228)|visual perception (GO:0007601)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|periciliary membrane compartment (GO:1990075)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|GTPase activator activity (GO:0005096)|nucleoside diphosphate kinase activity (GO:0004550)|unfolded protein binding (GO:0051082)			NS(1)|large_intestine(4)|lung(5)|stomach(1)	11						GGATGTTTTCAATGGTACTAT	0.388																																					p.Q149R		Atlas-SNP	.											.	RP2	37	.	0			c.A446G						.						109.0	100.0	103.0					X																	46713254		2203	4300	6503	SO:0001583	missense	6102	exon2			GTTTTCAATGGTA	AJ007590	CCDS14270.1	Xp11.3	2013-01-08			ENSG00000102218	ENSG00000102218			10274	protein-coding gene	gene with protein product		300757				6325945, 9697692, 19852809	Standard	NM_006915		Approved	TBCCD2, NME10, NM23-H10	uc004dgw.4	O75695	OTTHUMG00000021430	ENST00000218340.3:c.446A>G	chrX.hg19:g.46713254A>G	ENSP00000218340:p.Gln149Arg	57.0	0.0		77.0	4.0	NM_006915	Q86XJ7|Q9NU67	Missense_Mutation	SNP	ENST00000218340.3	hg19	CCDS14270.1	.	.	.	.	.	.	.	.	.	.	A	14.00	2.404954	0.42613	.	.	ENSG00000102218	ENST00000218340	D	0.86366	-2.11	5.62	5.62	0.85841	Tubulin binding cofactor C (1);C-CAP/cofactor C-like domain (1);	0.050000	0.85682	D	0.000000	T	0.79941	0.4533	L	0.28014	0.82	0.58432	D	0.999999	P	0.40032	0.699	B	0.38378	0.272	T	0.78216	-0.2290	10	0.23302	T	0.38	-20.1065	14.8103	0.69989	1.0:0.0:0.0:0.0	.	149	O75695	XRP2_HUMAN	R	149	ENSP00000218340:Q149R	ENSP00000218340:Q149R	Q	+	2	0	RP2	46598198	1.000000	0.71417	0.958000	0.39756	0.991000	0.79684	8.820000	0.92003	1.879000	0.54435	0.417000	0.27973	CAA	.	.		0.388	RP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056375.1	NM_006915	
HDAC6	10013	hgsc.bcm.edu	37	X	48661291	48661291	+	Missense_Mutation	SNP	A	A	G			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chrX:48661291A>G	ENST00000334136.5	+	3	285	c.107A>G	c.(106-108)aAa>aGa	p.K36R	HDAC6_ENST00000444343.2_Missense_Mutation_p.K50R|HDAC6_ENST00000413163.2_5'UTR|HDAC6_ENST00000469223.1_3'UTR|HDAC6_ENST00000376619.2_Missense_Mutation_p.K36R			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	36					aggresome assembly (GO:0070842)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to misfolded protein (GO:0071218)|cellular response to topologically incorrect protein (GO:0035967)|histone deacetylation (GO:0016575)|Hsp90 deacetylation (GO:0070846)|intracellular protein transport (GO:0006886)|lysosome localization (GO:0032418)|macroautophagy (GO:0016236)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|negative regulation of hydrogen peroxide metabolic process (GO:0010727)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of oxidoreductase activity (GO:0051354)|negative regulation of protein complex disassembly (GO:0043242)|negative regulation of proteolysis (GO:0045861)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine deacetylation (GO:0034983)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of chaperone-mediated protein complex assembly (GO:0090035)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of hydrogen peroxide-mediated programmed cell death (GO:1901300)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of signal transduction (GO:0009967)|protein complex disassembly (GO:0043241)|protein deacetylation (GO:0006476)|protein polyubiquitination (GO:0000209)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of establishment of protein localization (GO:0070201)|regulation of gene expression, epigenetic (GO:0040029)|regulation of microtubule-based movement (GO:0060632)|regulation of receptor activity (GO:0010469)|response to growth factor (GO:0070848)|response to misfolded protein (GO:0051788)|response to organic substance (GO:0010033)|response to toxic substance (GO:0009636)|transcription, DNA-templated (GO:0006351)|tubulin deacetylation (GO:0090042)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	aggresome (GO:0016235)|axon (GO:0030424)|caveola (GO:0005901)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|dendrite (GO:0030425)|histone deacetylase complex (GO:0000118)|inclusion body (GO:0016234)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)	alpha-tubulin binding (GO:0043014)|beta-catenin binding (GO:0008013)|core promoter binding (GO:0001047)|dynein complex binding (GO:0070840)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|Hsp90 protein binding (GO:0051879)|microtubule binding (GO:0008017)|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)|polyubiquitin binding (GO:0031593)|tau protein binding (GO:0048156)|tubulin deacetylase activity (GO:0042903)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	CGAAATATTAAAAAGGGAGCC	0.527																																					p.K36R	Pancreas(112;205 1675 2305 8976 15959)	Atlas-SNP	.											.	HDAC6	111	.	0			c.A107G						.						40.0	36.0	37.0					X																	48661291		2202	4300	6502	SO:0001583	missense	10013	exon3			ATATTAAAAAGGG	AF132609	CCDS14306.1	Xp11.23	2014-06-12			ENSG00000094631	ENSG00000094631			14064	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 90"""	300272				10220385, 10048485	Standard	NM_006044		Approved	KIAA0901, JM21, HD6, FLJ16239, PPP1R90	uc004dks.1	Q9UBN7	OTTHUMG00000034496	ENST00000334136.5:c.107A>G	chrX.hg19:g.48661291A>G	ENSP00000334061:p.Lys36Arg	57.0	0.0		85.0	57.0	NM_006044	O94975|Q6NT75|Q7L3E5|Q96CY0	Missense_Mutation	SNP	ENST00000334136.5	hg19	CCDS14306.1	.	.	.	.	.	.	.	.	.	.	A	13.22	2.170859	0.38315	.	.	ENSG00000094631	ENST00000423941;ENST00000438518;ENST00000376643;ENST00000444343;ENST00000376610;ENST00000334136;ENST00000376619;ENST00000436813;ENST00000441703;ENST00000426196;ENST00000443563;ENST00000440653	T;T;T	0.60548	0.18;0.2;0.2	4.42	3.28	0.37604	.	0.335207	0.25469	N	0.030452	T	0.55816	0.1944	N	0.24115	0.695	0.40731	D	0.982747	B;D;B	0.69078	0.057;0.997;0.27	B;D;B	0.75020	0.023;0.985;0.147	T	0.52313	-0.8592	10	0.26408	T	0.33	-18.528	6.9838	0.24718	0.8855:0.0:0.1145:0.0	.	26;36;36	B4DZN1;Q9UBN7;Q9BRX7	.;HDAC6_HUMAN;.	R	36;36;36;50;36;36;36;36;36;36;36;36	ENSP00000398566:K50R;ENSP00000334061:K36R;ENSP00000365804:K36R	ENSP00000334061:K36R	K	+	2	0	HDAC6	48546235	0.997000	0.39634	0.648000	0.29521	0.765000	0.43378	2.972000	0.49256	1.744000	0.51775	0.486000	0.48141	AAA	.	.		0.527	HDAC6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083394.2	NM_006044	
HUWE1	10075	hgsc.bcm.edu	37	X	53591670	53591670	+	Silent	SNP	T	T	C			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chrX:53591670T>C	ENST00000342160.3	-	50	7351	c.6894A>G	c.(6892-6894)gaA>gaG	p.E2298E	HUWE1_ENST00000262854.6_Silent_p.E2298E			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	2298	Glu-rich.				base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						GCACTTCTGCTTCCCCAGGCT	0.517																																					p.E2298E		Atlas-SNP	.											.	HUWE1	724	.	0			c.A6894G						.						149.0	105.0	120.0					X																	53591670		2203	4300	6503	SO:0001819	synonymous_variant	10075	exon51			TTCTGCTTCCCCA	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.6894A>G	chrX.hg19:g.53591670T>C		70.0	0.0		97.0	4.0	NM_031407	O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Silent	SNP	ENST00000342160.3	hg19	CCDS35301.1	.	.	.	.	.	.	.	.	.	.	T	6.323	0.427651	0.11987	.	.	ENSG00000086758	ENST00000427052	.	.	.	5.44	1.88	0.25563	.	.	.	.	.	T	0.56108	0.1963	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50048	-0.8873	4	.	.	.	.	8.2131	0.31494	0.0:0.244:0.0:0.756	.	.	.	.	G	1332	.	.	S	-	1	0	HUWE1	53608395	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.038000	0.30254	0.712000	0.32039	0.417000	0.27973	AGC	.	.		0.517	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119	
ACRC	93953	hgsc.bcm.edu	37	X	70823976	70823976	+	Silent	SNP	A	A	G			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chrX:70823976A>G	ENST00000373695.1	+	7	1386	c.849A>G	c.(847-849)gaA>gaG	p.E283E	ACRC_ENST00000373696.3_Silent_p.E283E			Q96QF7	ACRC_HUMAN	acidic repeat containing	283	Asp/Ser-rich.					nucleus (GO:0005634)				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					ATGATTCGGAAGCTTCCGACG	0.542																																					p.E283E		Atlas-SNP	.											.	ACRC	110	.	0			c.A849G						.						106.0	103.0	104.0					X																	70823976		2203	4300	6503	SO:0001819	synonymous_variant	93953	exon8			TTCGGAAGCTTCC	AJ311392	CCDS35326.1	Xq13.1	2010-08-05			ENSG00000147174	ENSG00000147174			15805	protein-coding gene	gene with protein product		300369					Standard	NM_052957		Approved		uc004eae.2	Q96QF7	OTTHUMG00000033327	ENST00000373695.1:c.849A>G	chrX.hg19:g.70823976A>G		39.0	0.0		90.0	4.0	NM_052957	B9EG62	Silent	SNP	ENST00000373695.1	hg19	CCDS35326.1																																																																																			.	.		0.542	ACRC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081856.1		
NKAP	79576	hgsc.bcm.edu	37	X	119059318	119059318	+	Missense_Mutation	SNP	G	G	T			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chrX:119059318G>T	ENST00000371410.3	-	9	1279	c.1113C>A	c.(1111-1113)aaC>aaA	p.N371K	RP3-327A19.5_ENST00000455986.1_RNA|AC002477.1_ENST00000581061.1_RNA|NKAP_ENST00000477789.1_5'UTR	NM_024528.3	NP_078804.2	Q8N5F7	NKAP_HUMAN	NFKB activating protein	371	Necessary for interaction with HDAC3 and transcriptional repression.				granulocyte differentiation (GO:0030851)|hematopoietic stem cell proliferation (GO:0071425)|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 alpha-beta T cell differentiation (GO:0046638)|stem cell maintenance (GO:0019827)|T cell differentiation in thymus (GO:0033077)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	20						TGTAGATCTGGTTCTCTTTTC	0.418																																					p.N371K		Atlas-SNP	.											.	NKAP	53	.	0			c.C1113A						.						138.0	125.0	129.0					X																	119059318		2203	4300	6503	SO:0001583	missense	79576	exon9			GATCTGGTTCTCT	BC012770	CCDS14592.1	Xq24	2010-07-20			ENSG00000101882	ENSG00000101882			29873	protein-coding gene	gene with protein product	"""NF kappaB activating protein"""	300766				14550261	Standard	NM_024528		Approved	FLJ22626	uc004esh.3	Q8N5F7	OTTHUMG00000022284	ENST00000371410.3:c.1113C>A	chrX.hg19:g.119059318G>T	ENSP00000360464:p.Asn371Lys	60.0	0.0		103.0	81.0	NM_024528	Q6IPW6|Q96BQ2|Q9H638	Missense_Mutation	SNP	ENST00000371410.3	hg19	CCDS14592.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.030201	0.93575	.	.	ENSG00000101882	ENST00000371410	T	0.24538	1.85	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.56863	0.2014	M	0.83384	2.64	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.62455	-0.6851	10	0.87932	D	0	-26.6892	17.8402	0.88713	0.0:0.0:1.0:0.0	.	371	Q8N5F7	NKAP_HUMAN	K	371	ENSP00000360464:N371K	ENSP00000360464:N371K	N	-	3	2	NKAP	118943346	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.792000	0.99085	2.432000	0.82394	0.600000	0.82982	AAC	.	.		0.418	NKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058072.1	NM_024528	
MCF2	4168	hgsc.bcm.edu	37	X	138699701	138699701	+	Missense_Mutation	SNP	T	T	C			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chrX:138699701T>C	ENST00000370576.4	-	8	1179	c.970A>G	c.(970-972)Acc>Gcc	p.T324A	MCF2_ENST00000414978.1_Missense_Mutation_p.T384A|MCF2_ENST00000370578.4_Missense_Mutation_p.T469A|MCF2_ENST00000519895.1_Missense_Mutation_p.T384A|MCF2_ENST00000370573.4_Missense_Mutation_p.T324A|MCF2_ENST00000536274.1_Missense_Mutation_p.T285A|MCF2_ENST00000338585.6_Missense_Mutation_p.T324A|MCF2_ENST00000483690.1_5'Flank|MCF2_ENST00000520602.1_Missense_Mutation_p.T384A	NM_001171879.1|NM_005369.4	NP_001165350.1|NP_005360.3	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	324					apoptotic signaling pathway (GO:0097190)|dendrite development (GO:0016358)|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)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					ATTTTGAAGGTCCTGCTGAGT	0.393																																					p.T384A		Atlas-SNP	.											.	MCF2	432	.	0			c.A1150G						.						202.0	160.0	174.0					X																	138699701		2203	4300	6503	SO:0001583	missense	4168	exon11			TGAAGGTCCTGCT		CCDS14667.1, CCDS48175.1, CCDS55514.1, CCDS55515.1, CCDS55516.1, CCDS55517.1	Xq26.3-q27.1	2012-07-24			ENSG00000101977	ENSG00000101977		"""Rho guanine nucleotide exchange factors"""	6940	protein-coding gene	gene with protein product	"""Oncogene MCF2 (oncogene DBL)"""	311030				2577874, 1611909	Standard	NM_001099855		Approved	DBL, ARHGEF21	uc011mwo.1	P10911	OTTHUMG00000022537	ENST00000370576.4:c.970A>G	chrX.hg19:g.138699701T>C	ENSP00000359608:p.Thr324Ala	78.0	0.0		105.0	5.0	NM_001171876	B7Z3Y5|B7Z869|B7ZAV1|E9PH77|F5H091|P14919|Q5JYJ2|Q5JYJ3|Q5JYJ4|Q8IUF3|Q8IUF4|Q9UJB3	Missense_Mutation	SNP	ENST00000370576.4	hg19	CCDS14667.1	.	.	.	.	.	.	.	.	.	.	T	12.19	1.862957	0.32884	.	.	ENSG00000101977	ENST00000520602;ENST00000370576;ENST00000536274;ENST00000370578;ENST00000414978;ENST00000519895;ENST00000370573;ENST00000338585	T;T;T;T;T;T;T;T	0.36340	1.44;1.34;1.26;1.41;1.44;1.49;1.38;1.41	5.98	4.83	0.62350	.	0.235047	0.50627	D	0.000118	T	0.27594	0.0678	L	0.35414	1.06	0.27522	N	0.951357	B;B;B;B;B;B;B;B	0.20052	0.0;0.024;0.0;0.0;0.001;0.0;0.041;0.0	B;B;B;B;B;B;B;B	0.25987	0.004;0.029;0.004;0.003;0.004;0.005;0.065;0.004	T	0.19516	-1.0303	10	0.23302	T	0.38	.	10.1445	0.42755	0.0:0.078:0.0:0.922	.	384;469;285;324;324;469;324;324	E9PH77;B7Z3Z2;F5H091;B2R9S6;P10911-2;Q5JYJ7;P10911-4;P10911	.;.;.;.;.;.;.;MCF2_HUMAN	A	384;324;285;469;384;384;324;324	ENSP00000427745:T384A;ENSP00000359608:T324A;ENSP00000438155:T285A;ENSP00000359610:T469A;ENSP00000397055:T384A;ENSP00000430276:T384A;ENSP00000359605:T324A;ENSP00000342204:T324A	ENSP00000342204:T324A	T	-	1	0	MCF2	138527367	1.000000	0.71417	0.998000	0.56505	0.978000	0.69477	1.987000	0.40687	0.873000	0.35799	0.441000	0.28932	ACC	.	.		0.393	MCF2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058560.1	NM_005369	
SLITRK4	139065	hgsc.bcm.edu	37	X	142716432	142716432	+	Silent	SNP	T	T	C			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chrX:142716432T>C	ENST00000381779.4	-	2	2718	c.2493A>G	c.(2491-2493)caA>caG	p.Q831Q	SLITRK4_ENST00000338017.4_Silent_p.Q831Q|SLITRK4_ENST00000356928.1_Silent_p.Q831Q	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	831						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					TCAAAGCTGTTTGCTCCTCAA	0.388																																					p.Q831Q		Atlas-SNP	.											.	SLITRK4	162	.	0			c.A2493G						.						101.0	89.0	93.0					X																	142716432		2203	4300	6503	SO:0001819	synonymous_variant	139065	exon2			AGCTGTTTGCTCC	BC040986	CCDS14679.1	Xq27.3	2004-06-23			ENSG00000179542	ENSG00000179542			23502	protein-coding gene	gene with protein product		300562				14557068	Standard	NM_001184749		Approved	DKFZp547M2010	uc004fby.3	Q8IW52	OTTHUMG00000022580	ENST00000381779.4:c.2493A>G	chrX.hg19:g.142716432T>C		67.0	0.0		75.0	4.0	NM_001184750	Q5JXG3|Q8TCM8|Q96DL3	Silent	SNP	ENST00000381779.4	hg19	CCDS14679.1																																																																																			.	.		0.388	SLITRK4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058617.1	NM_173078	
ZNF185	7739	hgsc.bcm.edu	37	X	152113989	152113989	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chrX:152113989C>T	ENST00000370268.4	+	16	1424	c.1387C>T	c.(1387-1389)Cga>Tga	p.R463*	ZNF185_ENST00000324823.6_Nonsense_Mutation_p.R231*|ZNF185_ENST00000318504.7_Nonsense_Mutation_p.R404*|ZNF185_ENST00000535861.1_Nonsense_Mutation_p.R495*|ZNF185_ENST00000449285.2_Nonsense_Mutation_p.R464*|ZNF185_ENST00000370270.2_Nonsense_Mutation_p.R495*|ZNF185_ENST00000454925.1_Nonsense_Mutation_p.R101*|ZNF185_ENST00000318529.8_Nonsense_Mutation_p.R242*|ZNF185_ENST00000539731.1_Nonsense_Mutation_p.R466*			O15231	ZN185_HUMAN	zinc finger protein 185 (LIM domain)	463						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3)	12	Acute lymphoblastic leukemia(192;6.56e-05)					ACTTGTCAGACGAGAGAGTTG	0.607																																					p.R495X		Atlas-SNP	.											.	ZNF185	92	.	0			c.C1483T						.						27.0	31.0	30.0					X																	152113989		2062	4176	6238	SO:0001587	stop_gained	7739	exon17			GTCAGACGAGAGA	AK056517	CCDS48184.1, CCDS55528.1, CCDS55529.1, CCDS55530.1, CCDS55531.1, CCDS55532.1, CCDS69832.1	Xq28	2012-08-08			ENSG00000147394	ENSG00000147394		"""Zinc fingers, C2H2-type"""	12976	protein-coding gene	gene with protein product		300381				9268636	Standard	NM_001178106		Approved		uc011myg.2	O15231	OTTHUMG00000024187	ENST00000370268.4:c.1387C>T	chrX.hg19:g.152113989C>T	ENSP00000359291:p.Arg463*	42.0	0.0		93.0	5.0	NM_001178106	A4FTV3|A6NME5|B4DLE9|B7Z771|B8K2L9|B8K2M0|B8K2M1|B8K2M2|E9PFR6|F5GXF7|F5GZL4|F8W8V7|H0Y4M8|O00345|Q8N1R8|Q9NSD2	Nonsense_Mutation	SNP	ENST00000370268.4	hg19	CCDS48184.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.84|12.84	2.057940|2.057940	0.36277|0.36277	.|.	.|.	ENSG00000147394|ENSG00000147394	ENST00000535861;ENST00000539731;ENST00000449285;ENST00000318504;ENST00000535156;ENST00000324823;ENST00000433245;ENST00000370268;ENST00000318529;ENST00000370270;ENST00000436731|ENST00000426821	.|.	.|.	.|.	2.54|2.54	-2.02|-2.02	0.07388|0.07388	.|.	572.326000|.	0.01289|.	U|.	0.009945|.	.|T	.|0.30230	.|0.0758	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.39563	.|-0.9608	.|3	0.27785|.	T|.	0.31|.	.|.	6.2702|6.2702	0.20951|0.20951	0.0:0.3018:0.5631:0.1352|0.0:0.3018:0.5631:0.1352	.|.	.|.	.|.	.|.	X|M	495;466;464;404;298;231;329;463;242;226;168|248	.|.	ENSP00000312782:R404X|.	R|T	+|+	1|2	2|0	ZNF185|ZNF185	151864645|151864645	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-1.372000|-1.372000	0.02570|0.02570	-0.660000|-0.660000	0.05352|0.05352	-0.435000|-0.435000	0.05868|0.05868	CGA|ACG	.	.		0.607	ZNF185-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000377480.1	NM_007150	
UTY	7404	hgsc.bcm.edu	37	Y	15448106	15448106	+	Missense_Mutation	SNP	T	T	C			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chrY:15448106T>C	ENST00000331397.4	-	16	2887	c.1880A>G	c.(1879-1881)aAg>aGg	p.K627R	UTY_ENST00000538878.1_Missense_Mutation_p.K594R|UTY_ENST00000545955.1_Missense_Mutation_p.K702R|UTY_ENST00000537580.1_Missense_Mutation_p.K548R|UTY_ENST00000382896.4_Missense_Mutation_p.K672R|UTY_ENST00000540140.1_Missense_Mutation_p.K624R|UTY_ENST00000329134.5_Missense_Mutation_p.K627R|UTY_ENST00000362096.4_Missense_Mutation_p.K627R	NM_001258267.1|NM_007125.4	NP_001245196.1|NP_009056.3	O14607	UTY_HUMAN	ubiquitously transcribed tetratricopeptide repeat containing, Y-linked	627					regulation of gene expression (GO:0010468)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)			kidney(1)|lung(6)	7						TTCATTCGCCTTCTTAATACC	0.478																																					p.K724R	Colon(103;1740 2135 40732 45171)	Atlas-SNP	.											.	UTY	45	.	0			c.A2171G						.						99.0	91.0	93.0					Y																	15448106		607	1974	2581	SO:0001583	missense	7404	exon18			TTCGCCTTCTTAA	AF000994	CCDS14783.1, CCDS14784.1, CCDS14785.1, CCDS59184.1, CCDS76073.1, CCDS76074.1, CCDS76075.1, CCDS76076.1, CCDS76077.1, CCDS76078.1, CCDS76079.1	Yq11.221	2013-11-04	2012-11-15		ENSG00000183878	ENSG00000183878		"""Tetratricopeptide (TTC) repeat domain containing"""	12638	protein-coding gene	gene with protein product		400009	"""ubiquitously transcribed tetratricopeptide repeat gene, Y chromosome"", ""ubiquitously transcribed tetratricopeptide repeat gene, Y-linked"""			8944031, 9499428	Standard	NM_182659		Approved	KDM6AL	uc022ckf.2	O14607	OTTHUMG00000036319	ENST00000331397.4:c.1880A>G	chrY.hg19:g.15448106T>C	ENSP00000328939:p.Lys627Arg	113.0	0.0		93.0	4.0	NM_001258249	A8K9Z3|E1U199|E1U1A0|F5H4V7|F8W8R7|O14608	Missense_Mutation	SNP	ENST00000331397.4	hg19	CCDS14783.1																																																																																			.	.		0.478	UTY-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000088394.1	NM_182660	
KIFC2	90990	hgsc.bcm.edu	37	8	145697525	145697526	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	CT	CT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr8:145697525_145697526delCT	ENST00000301332.2	+	14	1867_1868	c.1490_1491delCT	c.(1489-1491)cctfs	p.P498fs	FOXH1_ENST00000525197.1_5'Flank|KIFC2_ENST00000531423.1_3'UTR|KIFC2_ENST00000301331.5_Frame_Shift_Del_p.P246fs	NM_145754.2	NP_665697.1	Q96AC6	KIFC2_HUMAN	kinesin family member C2	498	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)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(3)|prostate(3)|skin(2)|urinary_tract(1)	19	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-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;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			CCTCAGGGCCCTCCTGAGGACC	0.678																																					p.497_497del		Atlas-Indel,Pindel	.											.	KIFC2	53	.	0			c.1489_1490del						.																																			SO:0001589	frameshift_variant	90990	exon14			.	AY007121	CCDS6427.1	8q24.3	2007-02-13			ENSG00000167702	ENSG00000167702		"""Kinesins"""	29530	protein-coding gene	gene with protein product						9115737	Standard	NM_145754		Approved		uc003zcz.3	Q96AC6	OTTHUMG00000165133	ENST00000301332.2:c.1490_1491delCT	chr8.hg19:g.145697525_145697526delCT	ENSP00000301332:p.Pro498fs	98.0	0.0		120.0	31.0	NM_145754	E9PHB2|Q96NN6	Frame_Shift_Del	DEL	ENST00000301332.2	hg19	CCDS6427.1																																																																																			.	.		0.678	KIFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382052.2	NM_145754	
MLH3	27030	hgsc.bcm.edu	37	14	75513956	75513957	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	AG	AG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr14:75513956_75513957delAG	ENST00000556740.1	-	1	2437_2438	c.2402_2403delCT	c.(2401-2403)tctfs	p.S801fs	MLH3_ENST00000544985.1_5'Flank|MLH3_ENST00000556257.1_Frame_Shift_Del_p.S801fs|MLH3_ENST00000355774.2_Frame_Shift_Del_p.S801fs|MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000238662.7_Frame_Shift_Del_p.S801fs|MLH3_ENST00000555671.1_5'Flank			Q9UHC1	MLH3_HUMAN	mutL homolog 3	801					ATP catabolic process (GO:0006200)|female meiosis I (GO:0007144)|male meiosis (GO:0007140)|mismatch repair (GO:0006298)|protein localization (GO:0008104)|reciprocal meiotic recombination (GO:0007131)|synaptonemal complex assembly (GO:0007130)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|mismatch repair complex (GO:0032300)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|chromatin binding (GO:0003682)|mismatched DNA binding (GO:0030983)|satellite DNA binding (GO:0003696)|single-stranded DNA binding (GO:0003697)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		TACAAACATCAGAGTTCTCTAA	0.416								Mismatch excision repair (MMR)																													p.801_802del		Atlas-Indel,Pindel	.											.	MLH3	200	.	0			c.2403_2404del						.																																			SO:0001589	frameshift_variant	27030	exon2			.	AF195657	CCDS9837.1, CCDS32123.1	14q24.3	2014-09-17	2013-09-12			ENSG00000119684			7128	protein-coding gene	gene with protein product		604395	"""mutL (E. coli) homolog 3"", ""mutL homolog 3 (E. coli)"""			10615123	Standard	XR_245681		Approved		uc001xrd.1	Q9UHC1		ENST00000556740.1:c.2402_2403delCT	chr14.hg19:g.75513958_75513959delAG	ENSP00000452316:p.Ser801fs	175.0	0.0		125.0	20.0	NM_014381	P49751|Q56DK9|Q9P292|Q9UHC0	Frame_Shift_Del	DEL	ENST00000556740.1	hg19	CCDS32123.1																																																																																			.	.		0.416	MLH3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415006.1	NM_014381	
PLEKHN1	84069	hgsc.bcm.edu	37	1	909846	909855	+	Frame_Shift_Del	DEL	GGGACCCCGG	GGGACCCCGG	-	rs142252262	byFrequency	TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	GGGACCCCGG	GGGACCCCGG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr1:909846_909855delGGGACCCCGG	ENST00000379409.2	+	15	1913_1922	c.1883_1892delGGGACCCCGG	c.(1882-1893)cgggaccccggcfs	p.RDPG628fs	PLEKHN1_ENST00000379407.3_Frame_Shift_Del_p.RDPG541fs|PLEKHN1_ENST00000379410.3_Frame_Shift_Del_p.RDPG576fs			Q494U1	PKHN1_HUMAN	pleckstrin homology domain containing, family N member 1	628										central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	9	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		AGGAGGAGCCGGGACCCCGGCTACGACCAC	0.629																																					p.576_579del		Atlas-Indel,Pindel	.											.	PLEKHN1	49	.	0			c.1726_1735del						.																																			SO:0001589	frameshift_variant	84069	exon16			.	AL136730	CCDS4.1, CCDS53256.1	1p36.33	2013-01-11			ENSG00000187583	ENSG00000187583		"""Pleckstrin homology (PH) domain containing"""	25284	protein-coding gene	gene with protein product						11230166	Standard	NM_032129		Approved	DKFZP434H2010	uc001acd.3	Q494U1	OTTHUMG00000040756	ENST00000379409.2:c.1883_1892delGGGACCCCGG	chr1.hg19:g.909846_909855delGGGACCCCGG	ENSP00000368719:p.Arg628fs	75.0	0.0		62.0	16.0	NM_032129	Q494U2|Q5SV98|Q9H0M7	Frame_Shift_Del	DEL	ENST00000379409.2	hg19																																																																																				.	.		0.629	PLEKHN1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000473256.1	NM_032129	
THBS3	7059	hgsc.bcm.edu	37	1	155167449	155167450	+	Splice_Site	INS	-	-	A	rs376682256		TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr1:155167449_155167450insA	ENST00000368378.3	-	20	2323_2324	c.2303_2304insT	c.(2302-2304)gga>ggTa	p.G768fs	RP11-263K19.4_ENST00000454348.1_RNA|THBS3_ENST00000541576.1_Splice_Site_p.G165fs|THBS3_ENST00000486260.1_5'Flank|RP11-263K19.4_ENST00000453136.1_RNA|RP11-263K19.4_ENST00000447623.1_RNA|RP11-263K19.4_ENST00000436772.1_RNA|THBS3_ENST00000541990.1_Splice_Site_p.G297fs|MIR92B_ENST00000607575.1_RNA|RP11-263K19.4_ENST00000422665.1_RNA|THBS3_ENST00000457183.2_Splice_Site_p.G648fs	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	thrombospondin 3	768	TSP C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00635}.				bone trabecula formation (GO:0060346)|cell-matrix adhesion (GO:0007160)|growth plate cartilage development (GO:0003417)|ossification involved in bone maturation (GO:0043931)	extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			AGGCCGTGTATCCTGGGGTGGG	0.53																																					p.G768fs		Atlas-INDEL	.											.	THBS3	70	.	0			c.2304_2305insT						.																																			SO:0001630	splice_region_variant	7059	exon20			.	L38969	CCDS1099.1, CCDS58034.1, CCDS72937.1	1q21	2008-02-05			ENSG00000169231	ENSG00000169231			11787	protein-coding gene	gene with protein product		188062				1601886	Standard	NM_007112		Approved		uc001fix.3	P49746	OTTHUMG00000035710	ENST00000368378.3:c.2303-1->T	chr1.hg19:g.155167449_155167450insA		109.0	0.0		158.0	17.0	NM_007112	B1AVR8|B4DQ20|Q8WV34	Frame_Shift_Ins	INS	ENST00000368378.3	hg19	CCDS1099.1																																																																																			.	.		0.530	THBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086856.1	NM_007112	Frame_Shift_Ins
DNAH14	127602	hgsc.bcm.edu	37	1	225273418	225273419	+	Frame_Shift_Ins	INS	-	-	A			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr1:225273418_225273419insA	ENST00000445597.2	+	16	2978_2979	c.2978_2979insA	c.(2977-2982)atatcafs	p.S994fs	DNAH14_ENST00000430092.1_Frame_Shift_Ins_p.S1168fs|DNAH14_ENST00000439375.2_Frame_Shift_Ins_p.S1168fs			Q0VDD8	DYH14_HUMAN	dynein, axonemal, heavy chain 14	994					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(2)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(2)|lung(2)|skin(2)|stomach(1)	27						ATAGATGACATATCAGCTCAGT	0.347																																					p.I1167fs		Atlas-Indel,Pindel	.											.	DNAH14	300	.	0			c.3500_3501insA						.																																			SO:0001589	frameshift_variant	127602	exon21			.	U61741	CCDS41472.1, CCDS44322.1	1q42.13	2009-02-12	2006-09-04		ENSG00000185842	ENSG00000185842		"""Axonemal dyneins"""	2945	protein-coding gene	gene with protein product		603341	"""dynein, axonemal, heavy polypeptide 14"", ""chromosome 1 open reading frame 67"""	C1orf67		8812413	Standard	NM_144989		Approved	Dnahc14, HL-18, HL18, DKFZp781B1548, MGC27277	uc001how.2	Q0VDD8	OTTHUMG00000037447	ENST00000445597.2:c.2979dupA	chr1.hg19:g.225273419_225273419dupA	ENSP00000409472:p.Ser994fs	232.0	0.0		321.0	53.0	NM_001373	A6NG62|A6NNL2|Q0VDD9|Q4VXC7|Q4VXG4|Q4VXG5|Q5VU33|Q5VU34	Frame_Shift_Ins	INS	ENST00000445597.2	hg19																																																																																				.	.		0.347	DNAH14-007	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000331217.3	XM_059166	
LAMB2	3913	hgsc.bcm.edu	37	3	49167709	49167711	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	AGA	AGA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr3:49167709_49167711delAGA	ENST00000418109.1	-	10	1342_1344	c.1178_1180delTCT	c.(1177-1182)ttctac>tac	p.F393del	LAMB2_ENST00000305544.4_In_Frame_Del_p.F393del	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	393	Laminin EGF-like 2. {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)		GGGTCACGGTAGAAGAAGGGCCG	0.596																																					p.393_394del		Atlas-Indel,Pindel	.											.	LAMB2	156	.	0			c.1179_1181del						.																																			SO:0001651	inframe_deletion	3913	exon9			.		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.1178_1180delTCT	chr3.hg19:g.49167712_49167714delAGA	ENSP00000388325:p.Phe393del	151.0	0.0		147.0	33.0	NM_002292	Q16321	In_Frame_Del	DEL	ENST00000418109.1	hg19	CCDS2789.1																																																																																			.	.		0.596	LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345939.1	NM_002292	
NCOR1	9611	hgsc.bcm.edu	37	17	15971227	15971227	+	Frame_Shift_Del	DEL	A	A	-			TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr17:15971227delA	ENST00000268712.3	-	32	4979	c.4722delT	c.(4720-4722)tttfs	p.F1574fs	NCOR1_ENST00000395851.1_Frame_Shift_Del_p.F1590fs|NCOR1_ENST00000395857.3_Frame_Shift_Del_p.F158fs	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1574	Interaction with C1D. {ECO:0000250}.|Interaction with ETO.				CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|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)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		AAGCCCTGTGAAAAGGCATGG	0.468																																					p.H1591fs		Atlas-Indel,Pindel	.											.	NCOR1	240	.	0			c.4771delC						.						60.0	60.0	60.0					17																	15971227		2203	4300	6503	SO:0001589	frameshift_variant	9611	exon31			.	AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.4722delT	chr17.hg19:g.15971227delA	ENSP00000268712:p.Phe1574fs	108.0	0.0		43.0	18.0	NM_001190440	B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Frame_Shift_Del	DEL	ENST00000268712.3	hg19	CCDS11175.1																																																																																			.	.		0.468	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311	
NCAM1	4684	hgsc.bcm.edu	37	11	112832332	112832363	+	5'UTR	DEL	CATCCCTCCCAGCCAGCAGATTACAATGCTGC	CATCCCTCCCAGCCAGCAGATTACAATGCTGC	-	rs6589347|rs11284059|rs559828324|rs201772924|rs563686839|rs7105734|rs112306738		TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	CATCCCTCCCAGCCAGCAGATTACAATGCTGC	CATCCCTCCCAGCCAGCAGATTACAATGCTGC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr11:112832332_112832363delCATCCCTCCCAGCCAGCAGATTACAATGCTGC	ENST00000533760.1	+	0	243_274				RP11-629G13.1_ENST00000500537.2_RNA|NCAM1_ENST00000397957.4_3'UTR|RP11-629G13.1_ENST00000532002.1_RNA	NM_001242608.1	NP_001229537.1	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1						axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|interferon-gamma-mediated signaling pathway (GO:0060333)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		CAGCAGATTACAATGCTGCCAAACTAAGGATTTCATTTGGACTTTGTTTTTC	0.491																																					.		Pindel	.											.	NCAM1	372	.	0			.						.																																			SO:0001623	5_prime_UTR_variant	4684	wholegene			.		CCDS73384.1, CCDS73385.1, CCDS73386.1, CCDS73387.1, CCDS73388.1	11q23.2	2013-02-11			ENSG00000149294	ENSG00000149294		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7656	protein-coding gene	gene with protein product		116930					Standard	NM_000615		Approved	NCAM, CD56	uc021qqp.1	P13591	OTTHUMG00000167196	ENST00000533760.1:c.-326CATCCCTCCCAGCCAGCAGATTACAATGCTGC>-	chr11.hg19:g.112832332_112832363delCATCCCTCCCAGCCAGCAGATTACAATGCTGC		0.0	0.0		110.0	33.0	NM_001242607	A8K8T8|P13592|P13593|Q05C58|Q15829|Q16180|Q16209|Q59FL7|Q86X47|Q96CJ3	Frame_Shift_Del	DEL	ENST00000533760.1	hg19																																																																																				.	.		0.491	NCAM1-003	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000394068.2	NM_000615	
ABLIM1	3983	hgsc.bcm.edu	37	10	116232776	116232804	+	Frame_Shift_Del	DEL	GAAGTGTAGAAAGGCTCATAGGTAATAAG	GAAGTGTAGAAAGGCTCATAGGTAATAAG	-	rs369821107		TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	GAAGTGTAGAAAGGCTCATAGGTAATAAG	GAAGTGTAGAAAGGCTCATAGGTAATAAG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr10:116232776_116232804delGAAGTGTAGAAAGGCTCATAGGTAATAAG	ENST00000277895.5	-	10	1304_1332	c.1207_1235delCTTATTACCTATGAGCCTTTCTACACTTC	c.(1207-1236)cttattacctatgagcctttctacacttcgfs	p.LITYEPFYTS403fs	ABLIM1_ENST00000369266.3_Frame_Shift_Del_p.LITYEPFYTS115fs|ABLIM1_ENST00000369252.4_Frame_Shift_Del_p.LITYEPFYTS343fs|ABLIM1_ENST00000392952.3_Frame_Shift_Del_p.LITYEPFYTS115fs|ABLIM1_ENST00000533213.2_Frame_Shift_Del_p.LITYEPFYTS343fs|ABLIM1_ENST00000369253.2_Frame_Shift_Del_p.LITYEPFYTS61fs	NM_002313.5	NP_002304.3	O14639	ABLM1_HUMAN	actin binding LIM protein 1	403					axon guidance (GO:0007411)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|visual perception (GO:0007601)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		ATCATAGCCCGAAGTGTAGAAAGGCTCATAGGTAATAAGATCTGGACGT	0.41																																					p.403_412del		Pindel	.											.	ABLIM1	131	.	0			c.1208_1236del						.																																			SO:0001589	frameshift_variant	3983	exon10			.	AF005654	CCDS7590.1, CCDS31289.1	10q25	2008-07-07		2002-09-13	ENSG00000099204	ENSG00000099204			78	protein-coding gene	gene with protein product		602330		LIMAB1, ABLIM		9245787	Standard	NM_002313		Approved	abLIM, limatin	uc021pyw.1	O14639	OTTHUMG00000019088	ENST00000277895.5:c.1207_1235delCTTATTACCTATGAGCCTTTCTACACTTC	chr10.hg19:g.116232776_116232804delGAAGTGTAGAAAGGCTCATAGGTAATAAG	ENSP00000277895:p.Leu403fs	0.0	0.0		53.0	10.0	NM_002313	A6NI16|A6NJ06|A8MXA9|B3KVH2|Q15039|Q5JVV1|Q5JVV2|Q5T6N2|Q5T6N3|Q5T6N5|Q68CQ9|Q9BUP1	Frame_Shift_Del	DEL	ENST00000277895.5	hg19	CCDS7590.1																																																																																			.	.		0.410	ABLIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050469.3		
HIST1H2AC	8334	hgsc.bcm.edu	37	6	26124631	26124692	+	Frame_Shift_Del	DEL	GTACCTGACCGCCGAGATCCTGGAGCTGGCCGGCAACGCGGCTCGCGACAACAAGAAGACTC	GTACCTGACCGCCGAGATCCTGGAGCTGGCCGGCAACGCGGCTCGCGACAACAAGAAGACTC	-	rs4645|rs148705455|rs144227315	byFrequency	TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	GTACCTGACCGCCGAGATCCTGGAGCTGGCCGGCAACGCGGCTCGCGACAACAAGAAGACTC	GTACCTGACCGCCGAGATCCTGGAGCTGGCCGGCAACGCGGCTCGCGACAACAAGAAGACTC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr6:26124631_26124692delGTACCTGACCGCCGAGATCCTGGAGCTGGCCGGCAACGCGGCTCGCGACAACAAGAAGACTC	ENST00000602637.1	+	1	201_262	c.171_232delGTACCTGACCGCCGAGATCCTGGAGCTGGCCGGCAACGCGGCTCGCGACAACAAGAAGACTC	c.(169-234)gagtacctgaccgccgagatcctggagctggccggcaacgcggctcgcgacaacaagaagactcgcfs	p.YLTAEILELAGNAARDNKKTR58fs	HIST1H2BC_ENST00000314332.5_5'Flank|HIST1H2AC_ENST00000377791.2_Frame_Shift_Del_p.YLTAEILELAGNAARDNKKTR58fs|HIST1H2BC_ENST00000396984.1_5'Flank			Q93077	H2A1C_HUMAN	histone cluster 1, H2ac	58						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.A71T(1)		NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(5)	12						CGGTGTTAGAGTACCTGACCGCCGAGATCCTGGAGCTGGCCGGCAACGCGGCTCGCGACAACAAGAAGACTCGCATCATCCC	0.649																																					p.57_77del		Pindel	.											HIST1H2AC,NS,carcinoma,0,1	HIST1H2AC	29	.	1	Substitution - Missense(1)	lung(1)	c.170_231del						.																																			SO:0001589	frameshift_variant	8334	exon1			.	Z80778	CCDS4585.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000180573	ENSG00000180573		"""Histones / Replication-dependent"""	4733	protein-coding gene	gene with protein product		602794	"""H2A histone family, member L"", ""histone 1, H2ac"""	H2AFL		9119399, 12408966	Standard	NM_003512		Approved		uc003ngm.3	Q93077	OTTHUMG00000014428	ENST00000602637.1:c.171_232delGTACCTGACCGCCGAGATCCTGGAGCTGGCCGGCAACGCGGCTCGCGACAACAAGAAGACTC	chr6.hg19:g.26124631_26124692delGTACCTGACCGCCGAGATCCTGGAGCTGGCCGGCAACGCGGCTCGCGACAACAAGAAGACTC	ENSP00000473534:p.Tyr58fs	0.0	0.0		210.0	14.0	NM_003512	B2R4F7|O00775|O00776|O00777|O00778|Q540R1	Frame_Shift_Del	DEL	ENST00000602637.1	hg19	CCDS4585.1																																																																																			.	.		0.649	HIST1H2AC-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000468023.1	NM_003512	
ARID1A	8289	hgsc.bcm.edu	37	1	27102114	27102139	+	Frame_Shift_Del	DEL	CCTGGCAGAGAGCACATGGGCATTAG	CCTGGCAGAGAGCACATGGGCATTAG	-	rs577286634		TCGA-G3-A3CG-01A-11D-A20W-10	TCGA-G3-A3CG-10A-01D-A20W-10	CCTGGCAGAGAGCACATGGGCATTAG	CCTGGCAGAGAGCACATGGGCATTAG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe8bcb2-95a5-43cc-97e1-ee6c7ed87731	d9577f26-985f-433d-becb-50301258d4d6	g.chr1:27102114_27102139delCCTGGCAGAGAGCACATGGGCATTAG	ENST00000324856.7	+	19	5411_5436	c.5040_5065delCCTGGCAGAGAGCACATGGGCATTAG	c.(5038-5067)ctcctggcagagagcacatgggcattagatfs	p.LAESTWALD1681fs	ARID1A_ENST00000457599.2_Frame_Shift_Del_p.LAESTWALD1464fs|ARID1A_ENST00000540690.1_Frame_Shift_Del_p.LAESTWALD9fs|ARID1A_ENST00000374152.2_Frame_Shift_Del_p.LAESTWALD1298fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1681					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)	p.E1683Q(1)	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)		AGTCTGGTCTCCTGGCAGAGAGCACATGGGCATTAGATACCATCAA	0.522			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																p.1680_1688del		Pindel	.		Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	.	ARID1A	842	.	1	Substitution - Missense(1)	urinary_tract(1)	c.5039_5064del						.																																			SO:0001589	frameshift_variant	8289	exon19			.	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.5040_5065delCCTGGCAGAGAGCACATGGGCATTAG	chr1.hg19:g.27102114_27102139delCCTGGCAGAGAGCACATGGGCATTAG	ENSP00000320485:p.Leu1681fs	0.0	0.0		134.0	10.0	NM_006015	D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Frame_Shift_Del	DEL	ENST00000324856.7	hg19	CCDS285.1																																																																																			.	.		0.522	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135	
